“Life ended as we know it that moment. Our wonderfully happy, strong, and independent girl had a fatal disease. I'm not sure how long we sat there or how many questions we asked... that part is a blur. I just know we left the office with the news that Haley was dying and there wasn't anything the medical community could do to save her.”
Haley’s Mom and Advocate
I do tend to repeat myself frequently as I write these stories. Phrases like “a love that is profound and undying” come to mind with each story that I write. I’ve used the phrase over and over now because it just seems to fit so well with the stories that concern kids that battle Batten. Certainly, it is true that most any parent would do whatever it takes to help one of their children when they become ill. However, parents who have children that battle a rare disease will go through more than most. There will be more appointments and more demands. Especially if the disease is one for which there is no cure and the disease progresses as it takes its course. Feelings will be felt that are not experienced by many. This all happens after the news is received and the initial process of grieving begins. The actions taken on behalf of the children and the sweet details of love that is felt for these kids are the object of my attention. And then, there is the resilient nature of the kids themselves. The way that they take life’s difficulties in stride. This as they experience the changes that take place within themselves physically. These young warriors find a reason to smile on the most difficult of days and they bounce back from the challenges that come their way. This, for as long as they can do so. They are able to teach us much about the things that are important. We tend to worry about the little things that occur in life and we sometimes need to be reminded not to. This by those who face major challenges. I think that we all have different ideas of what is important in life.
Knowing a child that battles a rare disease may cause us to consider what our priorities should be. Perhaps, we shouldn’t “sweat the small stuff”. Greater Awareness was not my first thought when I started to write about families that battle Batten alongside their children. One thing just led to another and the months have now turned into years. I first had to be made aware of the children that battle rare diseases and that happened through learning about the plight of one little girl who battled Batten disease. Everything has come out of the opportunity to meet her and the opportunity to follow her journey. The love that I had for my youngest son who has special needs, had lent itself to a love which would be developed for kids in that battle. Looking through the details of what is faced plus meeting these families online and in person has only served to strengthen my desire to continue. These kids are so very special. You only have to give a small piece of your heart to them and they will come close to taking every bit of it. This is absolutely true. I am definitely no expert in the area of medical science but it has been fascinating to learn a little bit about how the human body functions at a cellular level. I have also learned a little bit about what takes place when the cells that make up the human body do not function the way that they should. Looking beyond the science to look at how lives are affected by the failure of the cells to perform their function normally ... These are children that we are talking about.
People’s lives are impacted by the circumstances in which they find themselves when this happens. It’s knowing the plight of these kids that makes our hearts ache. Especially when we look at their faces and we look into their eyes. You may know what I am talking about. A person can be moved by these stories. I have been told that there are some 7,000 rare diseases that affect children. Many are fatal. How do we possibly draw attention to all of them? It can only be done by the efforts of many as they do what they are able. Sadly, there is much that is not being done. The majority of those that make up the number of rare disease advocates are the parents of these kids themselves. That is for good reason. For them, this is personal. These are their children that we are talking about. To me, any person that stands alongside these kids as they battle are special individuals. Many have been through the process. Many are in the middle of it. I am talking about the process of going from a state of shock as the diagnosis is received to a condition of grief and despair. Both of these remain but the individual pushes through the feelings that can’t be denied. This is in order to do their very best for their own child, or one who is under their care. Most all will do whatever they are able to do. Some are able to do more than provide basic care. Some will become champions for the community that they find themselves being a part of. This may come as a result of being able to spread massive amounts of awareness concerning the disease that their child is affected by.
Being an advocate for a child with a rare disease often makes ordinary people do things that are extraordinary. This happens no matter what the level of help they are able to give to their particular rare disease community. Some are able to do more. Some are equipped to help in a bigger way. This is where nonprofit organizations come from. Some of these people have a larger impact in advocating towards a cure for the disease that they are fighting against. I am inspired to love my son with special needs more fully as I look at the actions of those who care for kids that battle. Out of the community of those who care for kids that battle Batten will come those who inspire others by their actions. There are a few different names that come to mind and every opportunity given to talk about these people is greatly appreciated. Thanks for staying with me as I work my way towards that end. I remember attending my first Batten conference in Nashville, Tennessee and the very first night of being there. I ran into a young couple at the meet and greet that BDSRA has at the beginning of the conference and we struck up a short conversation. I soon realized that Dean and Melissa Pollman were from the same area within the state of Oregon that I was from. There we were together in Nashville and that is where I learned that their daughter Haley had begun her battle with CLN1 Batten disease. Melissa asked about where my interest in kids that battle Batten had originated from and I explained.
Anyone that has been to one of these conferences knows that they are crazy busy and that they can be a little overwhelming. My time with the Pollmans was brief but they definitely caught my attention with my being from the town that neighbors theirs. The conference was seemingly over in a blink of the eye and we all returned home. In addition to learning more about their daughter Haley, I also would soon learn that the Pollmans had started a nonprofit named Haley’s Heroes. Through the nonprofit they were raising an impressive amount of money for research towards a cure for CLN1. One of the means by which they raised money is through charitable events of all types. I had thought about attending one but had put it off for sometime. I suppose it was because of all the busyness of life. The time would come in which I would decide to bring myself and my two tagalongs to one of the events and I am glad that we went. I had a chance to meet Haley and her older brother Cole and also check out a Haley’s heroes event. I bet Haley was wondering who the old guy was that was staring at her until the time in which her mom introduced me to Haley. Up to that time, she had been running here and there with her friends. It was too cute because she looked at me when we were introduced and then looked back at her friends. She was quickly, off and running with the pack again. I was in no way offended by this, thinking that Haley was just busy being a kid. To me, she hadn’t even looked like a child that was affected by Batten. Haley is yet another beautiful little person that battles and that battle has continued since the time that I attended that event.
A Road Traveled Together
I guess I assumed that the Pollmans were too busy with life and their own work to consider working with me in telling their story. I found out that I was very wrong when I approached Melissa. She was more than willing to work with me and this is another opportunity that I am honored to have. So here it is. I hope that I can, as one might say, “do the story justice”. Like it is with a lot of stories that I’ve done, this one starts with two people that meet and fall in love. In this case though, it took a little while. Melissa Loring grew up in Salem, Oregon and like all of us, her life was a story in the making. It would take this part of her story a while to get started but it would all begin to take shape in 1984 as she reached the 7th grade. That is where she would meet her lifelong friend, Jennifer Pollman. Just like it is with most young girls who become best friends, Melissa and Jennifer would spend countless hours together. Much of that time would be spent at Jennifer’s house with her family. Among those that were members of the Pollman family was Jennifer’s younger brother Dean. At that time, Dean seemed like just an annoyance to Melissa. I mean, what else would you expect at that age and time in a girl’s life? She had no idea at that time that Dean would one day become more to her than Jennifer’s little brother. Much more. Each of their lives would head in different directions, but unknown to both of them at that time, their futures would include each other.
All of the usual things would take place for the two of them. That would include high school graduations and the achievement of career goals. Melissa had a desire to work in the business world and would one day in the future receive her Master’s degree in Business Administration. Melissa would be married for the first time and she would give birth to a beautiful little girl named Audrey. Her marriage however, would not last and it would wind up being an abusive situation for her. Melissa’s struggle would include working to keep her daughter in a safe situation and that no doubt, would provide a great deal of stress. In the process, Melissa’s strength of character was growing. As well, Dean’s life continued on but as Melissa put it to me, they both “battled demons”. They each had to grow as individuals before the time that they would be able to come together. Looking back on things, much of what happened for them separately had a part in bringing them together. Like Melissa, Dean had parented a little girl. She was beautiful and would be given the name Madison. Having Madison in his life, caused Dean to realize that his position was of great importance and the experience would cause him to grow as an individual. Seventeen years would pass from the time that they would meet as kids and after much had taken place, Dean and Melissa would fall in love. Melissa stated that they would still not come together until a little more than three years had passed. They however, stayed in touch during that time until the day that their separate journeys would become one traveled together.
Melissa would tell me that the song by the group Rascal Flatts, titled “Bless the Broken Road”, describes hers and Dean’s journey to find one another. I have to say that I did what any good writer would do after reading this. I went and searched for the lyrics and watched a video of the song being performed live. I have to admit that doing so caused me to get a little work up. This, as I realized that the song matched their story perfectly (perhaps minus the acoustic guitar, piano, and screaming girls on the side of the stage). So it was in 2005 that Dean and Melissa’s “broken roads” came together. They became engaged to be married. Dean and Melissa would become man and wife in March of 2006. Whatever the road that they traveled brought their way, they would now handle it together. The newly married couple, all at once, became a family of four. Dean would even adopt Audrey legally soon after. As Melissa would put it to me, “She (Audrey) is his and Maddie is mine.” They wouldn’t stop there, nor would they wait to have more children. Melissa would soon give birth to a baby boy. Dean loved both of his daughters but he now had a son who they named Cole. He was born on March the 11th, in 2007. It wasn’t quite time to quit increasing the size of their family as Cole came along. Dean and Melissa wanted another and this soon would take place. Just as was the case in times passed, Melissa would conceive and carry her baby without a major incident taking place.
The time would arrive in which Dean and Melissa would welcome their fourth child into the world and she was someone that would be very special. That’s right! Melissa would give birth to their third daughter. The guys in the family were now outnumbered but they wouldn’t mind one bit. Everyone welcomed Haley June Ruth Pollman into their family and they were now a family of six. That number seemed perfect to them! The day was August the 23rd, of 2009 that baby Haley was delivered. This would take place at Salem Hospital, named after the city she was born in, Salem, Oregon. Haley was perfect and she was a perfectly beautiful baby girl. She came to the Pollmans weighing in at 6 pounds and 11 ounces and to Melissa, the experience of holding Haley for the first time was “magical”. At this point in time, everything seemed so perfect and who could argue that it was not? The Pollmans were a blended family but they would have to tell you that in order for you to know it. Regardless of the difference in ages with the siblings, they would draw very close to one another. They were just three sisters and a brother. Dean and Melissa were parents to four wonderful children. All four were loved and everyone loved being together. Haley was the baby and she was a girl. That should be a position of honor, times two, in any family. Heaven help you if you were to bring Dean’s baby girl home late from date night, or mess with Cole’s little sister. Haley was always to be the baby of this family but don’t let me jump too far ahead.
Just like it would be with the rest of us, there was no way that the Dean and Melissa could see what the future held for them. There was no way that they could know the special circumstances that would surround Haley or, how all of their lives would be impacted by this beautiful little girl. They only knew that they had someone special in their midst. There was another reason, in the immediate, why Haley would be viewed as an extra special addition to the family. Unlike it was with Cole, the Pollmans had sought to find out the gender of their fourth child prior to the delivery. You see, Dean’s sister Jennifer and Melissa had both been pregnant at the time when Melissa had been carrying Cole. They both were excited to be pregnant together. The babies would be born three months apart and Jennifer had given birth to a little girl. She named her newborn daughter Lola Jolie. The very sad part is that Jennifer would lose her daughter to Sudden Infant Death Syndrome (SIDS). This would take place in September of 2007. You can only imagine that Jennifer and those who are close to her were devastated by this. That is why Dean and Melissa felt that they needed to find out the gender of their fourth child. They would actually call Jennifer from the ultrasound to tell her that Melissa’s baby was a girl. Jennifer would be the first person to know! This is one reason why, until this very day, Jennifer and Haley have a very special relationship. Melissa further explains, “Haley, in a way, helped heal Jennifer's heart. I believe with all that I am that Lola is Haley's guardian angel.” This is, no doubt, a very close knit family.
The Complete Lifestyle
Everything had come together for Dean and Melissa. They had found love for a lifetime and had formed a family together. Things were seemingly perfect. Melissa was able to stop working outside the home as the Pollmans grew businesses of their own. Dean and Melissa would grow in the business world to the point that they would own a construction company, a storage company, and two manufactured home parks. They had found success by anyone’s measure. The kids were healthy and thriving and things were as they should be. The Pollmans had built a firm foundation within the Willamette Valley here in Oregon. They had both grown up in Salem, gaining many friendships over the years. This was in addition to having extended family in the area. There would also be many new acquaintances that would come through their business ventures. They had no idea at the time but all these people put together would become a network of support for a major challenge that was yet, not seen. Life was busy but life was just the way that this family had hoped that it would be. The Pollmans would work hard in order to have the life that they wanted and that included lots of opportunity to make memories together. There were fun times and time spent together on the weekends. Everybody loved little Haley. She was the youngest and so full of energy. She did and said the cutest things, just as you would expect.
According to Melissa, Haley was super independent and very active from the start. She was quick to walk and to start talking. Haley loved to climb. Melissa would find little Haley at the top of heights that showed she had no fear. Climbing to the top of appliances was not an issue for her. No matter how high up they were. Melissa explains, “My washer and dryer sit on storage drawers so the tops are about 5 feet up in the air. One day I walked into my laundry room and Haley was sitting on top of the washing machine singing and playing.” Kids are the picture of innocence and that is one of the reasons that we so enjoy being around them. Their inquisitive little minds and the joy that they have for living is a cause for joy in our own lives. You know, we rarely mind answering all of those innocent questions that are asked as their minds soak up new information. This is part of what we were put on this planet to do! Speaking about singing, Melissa said that Haley “lived life with a song”. As soon as Haley started to talk, she also started to sing and I just bet that she sounded sweet with each song that she sang. Haley loves music and she makes her own songs. In the back of each parents mind is the question, what can I expect from this child as he or she continues to grow? What might they be one day? Whatever the case might be for Haley, she had gotten off to a great start. She had met or exceeded all of her early milestones and she even started school early. Haley was ready for school!
Every parent can expect issues to come along as their children grow and develop. We handle things as they come to us. It is just part of parenting children. Learning disabilities or medical issues can show themselves but most often, the things that come along can be dealt with. There is usually a resolution to problems that kids face as they are growing. Sometimes, there are bigger challenges but even those are challenges that can be resolved. Haley’s growth and development would continue and she would remain right on track.This, as she reached the first grade. Everything looked to be going great with her. It was now June of 2016 and Haley was reading and writing by the end of the school year. As summer arrived, something began to change with Haley. Her parents noticed that she was beginning to sit closer to the television set and this was an indication to them that something wasn’t right with her eyesight. On top of the of what was being noticed as she watched TV was also the fact that she wasn’t seeing as well at night. As the new school year began, Haley’s teacher started to see a change in Haley as well. Haley was beginning to have an issue with her reading and writing. She had regressed in her abilities in this area. The obvious conclusion was that Haley needed glasses. Her poor vision had to be the cause of these issues.
It makes perfect sense that Dean and Melissa would start their search for answers by taking Haley to an eye doctor. Everyone had to be hopeful that helping Haley was as simple as finding the right prescription for corrective lenses. There is no way that anyone could expect there to be a problem with anything beyond her eyesight at this point. Haley would get fitted for glasses but that would not seem to help as her vision would only continue to get worse. Melissa said that they would be in and out of various eye doctors offices for about twelve months. This had to be very frustrating and even more so as one doctor even claimed that Haley was just acting out in order to gain attention. What an outrageous comment for any medical professional to make. Melissa stated that Dean knew better. He knew that this was just not true and he would tell the doctor that she was wrong. He had been watching Haley when she wasn’t paying attention and it was obvious that something was not right with Haley’s vision. Dean’s insistence that there was more going on with Haley would pay off as this doctor would listen and then refer them to the Casey Eye Institute at the Oregon Health and Science University (OHSU). OHSU in Portland is a very fine medical facility and it would be there that the Pollman’s would meet Dr. Mark Pennisi. The doctor would end up ordering an entire battery of tests and like a champion, Haley would endure all that came her way. There have been so many stories that have been written of families having to endure a long search for answers.
Many times, the search will include visits to various doctors and the family will receive incorrect diagnoses’ in route to finding the truth. Generally, the diagnosis gets worse with time. Things have seemed to have gotten better as people in the medical profession have become more aware. Regardless of the length of time it takes, there is no way that one can be prepared for the eventual outcome when the diagnosis is Batten disease. One of the tests that Haley would undergo is called Electroretinography (or an ERG). The test measures the electrical response of light-sensitive cells in a person’s eyes. These cells are known as rods and cones. Something like Cone-rod Dystrophy could have been the suspected culprit in Haley’s case but there was more to this diagnosis. The knowledge possessed by Dr. Pennisi in combination with the results of the ERG and other testing brought the doctor to a conclusion. It would be in the Fall of 2017 that the Pollmans would receive the worst possible news that any person could concerning their child. Here it is in Melissa’s own words, “That day is burned into my brain. Dean and I were huddled in a small dark exam room at Kasey. In walks Dr. Pennisi and several other doctors in training. It was white lab coat overload. Dr. Pennisi did not mince words. He said "It's not good. Based on my experience, Haley's rapid sight loss, and her test results ... I believe Haley has Batten disease. Batten disease is a rare disease that gets progressively worse over time. There are not cures and it is fatal"’
More Than Expected
No doubt, the Pollmans were completely shocked by the severity of the news that they were given. Based on Haley’s age, the doctor had initially felt that she had CLN3, Juvenile Batten disease. However, a genetic panel would be ordered for gaining a verified diagnosis. Bloodwork would be drawn and the testing would be performed which would soon reveal that Haley had CLN1 Batten disease. She never cried, not even once during all of the testing. She never complained. Life, as Dean and Melissa had known it, had ended at the moment that they received the news concerning the Batten diagnosis. This little girl was that special person to everyone in her family. She was Dean and Melissa’s youngest child and the little sister to all of her siblings. She was the one that was always singing a song because she was so full of life. She meant so much to so many. The Pollmans now knew that they were on a journey with Haley. They would leave the doctor’s office feeling that there was no hope. There was nothing that the medical community could do for Haley. It was difficult for them to know at that time but Dean and Melissa had been spared a long road to a diagnosis for Haley. This was due to the training and experience of Dr. Pennisi and the fact that they had been referred to him for Haley to be seen. It was about a year from the time that Dean and Melissa had first started noticing symptoms until she was diagnosed.
There is never a good time to receive the news that your child has something like Batten disease. However, I would think that knowing the truth allows you to process the information and take whatever action is available sooner. The Pollmans would take action but there were some things that they had to take care of in the immediate. An important and very difficult thing to do was to break the news to Audrey, Maddie, and Cole. How do you break this kind of news to kids? This has to be a most difficult thing to do but it is something that has to be done. Kids are internet savvy these days and answering their questions is the right thing to do. Melissa described the experience of having to break the news to Haley’s siblings in this way, “Watching them crushed under the weight of the news was heart wrenching. We encourage them to ask us questions. We are committed to answering them honestly no matter how hard.” Melissa admitted that it would be so easy to focus solely on Haley and their own pain but they are both intelligent people. They know that checking on each of Haley’s siblings is important. They do not want Audrey, Maddie, and Cole to become “invisible children.” Furthermore, they want them to develop as individuals. All of them developing in lives that are separate from Batten disease. Those of us that follow the Pollmans on social media can see that they do a great job of balancing everything that life has brought their way.
They have to balance Haley’s needs and their fight against Batten disease with the rest of family life and their business ventures. All of this is part of the whole and all of it requires their attention. The Pollmans quickly grew to be a close knit family and this was fostered by doing lots of activities together. Work has always had as a purpose, the ability to do fun and fulfilling activities together as a family during hours away from work. Batten disease would not take this away from them. With Batten, the grief is ever present and the awareness that life is not guaranteed is in the forefront of a person’s thinking. Living in the present time becomes even more important and enjoying what you have now is something to focus on. Enjoy every moment! I think that Dean and Melissa have done a good thing to have each person get involved with a counselor. This, in order to discuss their grief with someone that is qualified to listen. While this could be seen as a sign of weakness to some, it is really a show of commitment to being as healthy of a family as is possible. It really just helps to talk things through sometimes. The kids do counseling and Dean and Melissa also do couples counseling. Melissa explains the need for this, “Grief is so individual and personal. In order to lead our family through this and not allow Batten disease to steal everything from us, Dean and I realized it starts with our bond. Counseling has helped us extend grace to each other and our children.”
Melissa does feel that Batten disease is responsible for causing personal growth to occur in her. This does make sense although this writer would think that there was already a great deal of strength of character there. Melissa believes that because of Batten, she doesn’t sweat the small stuff as much as she once did. As a family, they don’t completely know what the future holds. This lady, who by nature is a planner, says that she tries to not look too far ahead. This is not to say that the Pollmans are not people of action. They truly are that. Like several other families in the Batten community have done, the Pollmans created a nonprofit foundation in hopes of creating change. They wanted to do everything that they can to help find a cure for Haley and the others that battle CLN1 Batten disease. With the advent of therapies like Gene Replacement comes hope towards a cure. Researchers have created a reason for hope and optimism and helping to fund this is of the greatest importance. This is why Dean and Melissa Pollman formed the nonprofit foundation which they would name Haley’s Heroes. The network of support that they needed would, in large part, already be in place. The people that I had written about earlier, who were already acquaintances or friends and family, became Haley’s Heroes. There are a lot of people that love this little girl and at the same time, admire her parents!
What the Pollmans have already accomplished through Haley’s Heroes has been of the greatest importance. Research leads to treatments and a cure. There is no other way. It all begins with raising the funds that are needed for researchers to do their work. It is also important that the funds are given to worthwhile projects. Through Haley’s heroes, the Pollmans have been able to fund several research grants. Important research, like that which is done using sheep, has already taken place because of the contributions made by Haley’s Heroes. As I have continued to write and have branched out a bit to other rare disease communities, I have found that gene replacement has become a reality for them. Those who follow kids that battle Batten know that Gene Replacement Therapy has also become a reality for some of the kids that battle CLN6 Batten disease. There is room for optimism. However, for the parents of kids that currently battle CLN1, and other variants of Batten, new therapies cannot come soon enough. For them, it is personal! Dean and Melissa understand this in a big way and they are giving this effort their very best. Melissa makes comment on their continued goal for Haley and what has already taken place, “Although none of the research we have funded will immediately result in therapies it is critical to shaping future therapies. Our goal is still to fund a cure or therapy to save Haley and children like her.”
The Pollmans understand that the work that they are doing may not bring about the therapy that is needed right now for Haley. Many might just step back, believing the situation to be hopeless. That is not the approach that this couple is taking. Melissa explains, “It hasn't stopped our resolve! It hasn't hampered our hope. We will continue to fight Batten disease for Haley, because of Haley, and in honor of Haley. In a phrase, she is worth it.” Whereas the Pollmans had sought a normal type of lifestyle through hard work and family involvement, life has taken on a new dimension. Yes, Dean and Melissa are parents to four special kids. They have been successful in their business ventures. Now, however, they are rare disease advocates and more specifically, advocates for kids that battle CLN1 Batten. They are working hard for Haley and all the others that battle like she does. Melissa explains in part, the vision that they have for Haley’s Heroes with this, “My vision for the Haley's Heroes Foundation is to unite the CLN1 community and unite the Batten community as a whole. We are stronger together. I want people to know about Batten disease. I want more rare disease awareness. Knowledge leads to change. Change leads to lives saved.” There are a number of families that come to mind when I look at the Pollmans. I think about how Dean and Melissa’s pursuits in life have, in large part, been redirected. Yes, there are more memories to be made as a family and there is more fun to be had.
There are all of the normal kinds of things to be done together as a family but there is also this mission. A clinical trial could come at anytime now and that is what we hope and pray for. Whatever the case may be, the Pollmans have a vision for Haley’s Heroes. They will continue to work towards the things that they want to achieve for the CLN1 community and kids that battle Batten as a whole. They are looking to expand the work of the foundation while Melissa also gives Haley and the rest of the family her very best. She explains how she plans to do this, “I can not do it alone. We need support. We decided to grow the foundation and plan to hire a donor relations manager who can work full time to execute the vision and mission.” Something tells me that this couple will continue to give this cause their all while also maintaining a firm foundation for their children. Just like many of the other couples who have battled alongside their children, the Pollmans have become very well connected to the rest of the Batten community. Melissa has caught the attention of many of the other Batten moms, and mums in the UK, one of which is my friend Gail Rich. She, of course, has two beautiful girls that battle CLN2 Batten. Gail had many great things to say about Melissa and I will share a little bit of that with you here, “Melissa is a very inspiring person, from the focus and importance of family life to how Melissa connects with Batten families who are going through similar struggles. Optimistic, encouraging and supportive ... Melissa has always been so kind. This, in messages in response to posts and events we have shared to help raise awareness of Batten disease.”
So many people have now viewed the TED talk that Melissa presented to an audience not that long ago. TED is simply a nonprofit whose goal is to facilitate the spread of new ideas. It has gone from having the convergence of technology, entertainment, and design as its root to hosting talks about all types of issues. This forum gave Melissa an opportunity to tell many about their battle with Batten while inspiring people to think outside themselves for the good of others. She did a magnificent job during her TED talk and she has inspired a lot of people through it. Again, one of those people is my friend Gail Rich and I will share here what she had to say about it, “I was once directed to Melissa’s ‘Ted Talk’. I had no idea what a ‘Ted Talk’ was, but I researched and then watched Melissa talk. I connected so much when Melissa talked about life before Batten disease and then, how they received the news of Haley’s diagnosis. It was not only interesting to find out more about Melissa and her family but it was very inspiring to listen to. This, in how they took the news of their beautiful daughter Haley and applied a practical approach to searching for answers ... making a difference to the BD community through Haley’s Heroes.” Melissa has inspired many through her actions and this includes her TED talk which was very inspiring. I know that any person whose life has been changed by something like Batten disease will never be the same. It’s just a fact that going through something like helping your child fight a rare disease changes a person. Many families will continue to stay involved until the day that there is a cure.
The Pollmans fit into this group because they are committed to helping their daughter and other kids who battle CLN1. And still, they would rather just have their daughter to be healthy and whole. They would rather trade any pats on the back that they might receive because of the contribution they are making for Haley’s to have good health. This is a family that is in a battle with Batten disease and they just want their daughter to have a chance at life. Haley is one very special and brave young lady. The Pollmans have always been a very active family. There are all the usual types of things going on. There are school sports and activities taking place. Family get togethers and special events happen frequently. Snow and water skiing and fishing and hunting trips and you name it. They do things together and that all increases the strength of bond that they have with one another. Haley has always been a part of that and the family has not let Batten get in the way of them doing these activities together. They have watched Haley decline over the last three years with the last seven months being the worst. Melissa feels that the restrictions related to COVID-19 have been a big contributor. Haley has been home-bound much of the time that she would have otherwise been attending school. Regression has taken place in Haley. There have been struggles and disappointments that have come with the regression and advancement of the disease.
Living to the Fullest
Just like it was with her siblings, Haley was being taught to do all of the fun things that the family enjoys doing together. One of those was wakeboarding. Haley loved it but sadly, she was unable to wake board this summer. This is because of the progression of Batten disease. One of the things that is so amazing about these kids is the resilient spirit that they display through their actions and attitudes. They show disappointment when they are unable to do the things that they once could but they almost always bounce back. That is what resiliency is. I’ll let Melissa speak for herself as she describes with her own words what happened on a day in June of this year, “This June was the first time she was unable to get up wakeboarding. That was hard to watch because she was sad and frustrated. Hearing her cry ‘I couldn't do it’ broke our hearts. Haley is one of the most positive and sweet people I've met. True to her personality, she didn't let it upset her for too long. About 10 mins after she cried about not being able to wake board she looked at me and said ‘Mom I did it! I wakeboarded’. Yes, sweet Haley you did. She continued to try the following days. That is Haley to a T! She is fearless and tenacious. She doesn't let failure keep her down. She remains positive.” Melissa shared that Haley is not unaware of her disease. She stated that Haley once told them that “her brain is fuzzy”. Haley knows that she has Batten and has asked if it will take her life. Is there anything that would be more difficult to talk about with your child? Melissa said that Dean and herself both believe in being “age appropriate honest”.
Haley has to be one strong little lady. I think that is apparent. To have limitations that once weren’t there and to have knowledge concerning the fact that she has crippling disease. All the while, she deals with it in strength, modeling the resilient attitude that we have talked about. I repeat myself a lot because prevailing thoughts come to mind frequently. These kids are amazing. They always find a reason to be happy, bouncing back from the disappointments that come as the disease progresses. For instance, I don’t know how I personally would deal with losing my eyesight. I hope that I will never have to find that out for myself. However, if I do, I hope that I can deal with it in the way that these kids do. The way that they model the ability to bounce back after that kind of a loss is profound. These are children that we are talking about. Melissa says that she and Dean take direction from Haley. They encourage her to try new things and to stay active. Things that are noticeable are dementia and short term memory loss. Those are the kinds of things that should only happen to the aging. This, in itself, would be heartbreaking but Haley also hallucinates. Melissa gave me an example to share, “She hallucinates about a spider/butterfly named Hannah. Hannah causes her grief so we as a family always tell Hannah to "go away". Sometimes we feed Hannah to our dogs. Haley thinks that's hilarious!” Perhaps kids that battle aren’t the only ones that are resilient in a Batten family home.
Those that care for kids that battle batten have my deepest respect and admiration. I know the parents are just doing what needs to be done but what is required is much more than what most of us will ever see. It is a good thing that the Pollmans have done with their business ventures because it allows Melissa to be home for Haley. This, because Haley is needing increased assistance with everything as time continues. I am certain that as the level of care for Haley increases that the bond between her and Melissa (and family) has increased as well. A love that is profound and undying. Sleep has become an issue for Haley and she also experiences night terrors. These kinds of things are hard to write about but they are part of what a Batten warrior like Haley experiences. Melissa often lays down with Haley in order to help her settle at bedtime. She is not as independent as she once was. Haley needs Melissa’s help with her daily activities but she is worth every bit of extra effort that it takes. Dean often steps in when he gets home at night, just like a great father would. The Pollman’s extended family is very involved in their efforts and they step in to help whenever possible.
Melissa said that Haley has several therapies that she goes to and members of their extended family often take Haley to those. She is so worth the time and added effort. Haley is another one to melt your heart, just as these kids usually are. The term comes to mind frequently. Haley loves riding horses through an organization named Horses for Hope. Her Aunt Jen takes her to this particular therapy and they really enjoy that time together. Every bit of time that Haley and Jennifer get together is time that is enjoyed. Jennifer shared with me that next to her husband, Haley is her most favorite person to spend time with. This even though Jennifer loves all of her nieces and nephews. As we talked about earlier, Haley came into Jennifer’s life as a newborn at a time that she really needed her to. During the time frame that she had lost her infant daughter to SIDS. As Haley made her entrance into Jennifer’s life, the bond was instantaneous and it has remained strong. Do you think Haley was an angel that was sent to Jennifer? As it turns out, they both share a zany type of personality and both of them love to pull innocent pranks on family members. Jennifer shared a few things about her love for Haley and here is some of it in her own words, “Everything about Haley brought, and still does, bring me joy. She doesn't say much anymore but she likes to sneak up on people like a little ninja with her cute grin. The family gives me a hard time because Haley can do no wrong in my eyes …. and it's true.”
Everything that you could imagine, Jennifer and Haley love doing together. From something like a simple trip to the grocery store to snow skiing together. Haley always had a cause to sing a song when she was around her Aunt Jen. Haley would take every opportunity to make the most out of life and that still stands true. Haley cares deeply about people and she still shows it in ways in which words are not needed. You can only imagine what watching Haley’s plight unfold is like. In finishing one comment to me, Jennifer stated, “My heart is so broken.” Somehow, I am unable to respond to this, using words that are adequate. For Melissa’s part, she just wanted to be a mom and to find success in all of the facets of life. Parenting, work, and enjoying time with family. Now, however, both she and Dean have found themselves in a battle for their daughter. This one is called by her family, their “Haley Bug”. Sometimes her pet name is shortened to just “Bug”. It just seems so unfair that her life would be slipping away from all who love her. Haley truly does battle Batten and she is giving this a very valiant effort. Melissa says that Haley still interacts with friends that she has had since preschool. She will leave an impression on all who meet her. I know that she did on me, even during such a brief encounter. Then again, I love kids that battle Batten. There are two companies that had potential for beginning a clinical trial involving gene therapy. One is a company named Abeona and the other is Amicus. Abeona has since, sold their gene therapy platform. It was purchased by a company named Taysha Gene Therapies.
Hoping for Hope
It would be our hope that one of these companies would come through soon for kids that battle CLN1. Melissa is praying that they will soon open up the trial and also that Haley will remain a candidate. I’m praying for the same thing. Melissa has been in contact with Amicus and they are helping her to feel hopeful. She feels that they have a great team of researchers but whatever the case may be, the trial could not come soon enough. We so need this for Haley and the others that battle with CLN1 Batten. Melissa stated that it is imperative that the clinical trial move forward so that those involved can learn from it. There is no doubt that once a parent is given a diagnosis like Batten for one of their children, they will never be the same. These kids change us, in one way or another. They change people’s perspective and way of thinking. They teach us the things that are important in life as the trivial matters in our existence fade away. Haley is a very special young lady and knowing what she is going through is heart wrenching. Nobody knows the experience of being close to one that battles like the parents themselves. Especially when we are talking about a mom. Melissa shares a little bit about the changes that have taken places with her personally, “I hate Batten disease. I wish I had never heard of such a disease but I do think I'm a better person for it. I'm more patient. I extend grace more often. I take more time to slow down. I hope it's made me a better parent. Weirdly, I think it's helped me during this pandemic. We do our best to keep our family safe while balancing living.”
It may sound as if I have written much of this story in a matter of fact kind of manner. I don’t mean to give you the impression that I am thinking in those terms. This is such a difficult thing for any family to go through together. Although I have not spent a lot of time around Haley personally, I did have the opportunity to meet her and I know how much she means to her family. Remember, this is the baby in the family and everybody’s baby girl has Batten disease. She is her family’s Haley Bug! These stories are beautiful because of the details concerning the love that exists between kids that battle Batten and those that care for them. It is a kind love that to me is like none other. The depth of feeling that is felt for someone like Haley is obvious. She is so innocent and yet she is going through something that just tears us apart inside. Haley is a beautiful young girl. Her life will affect the lives of her family members like no one elses possible could (It already has in a big way). More kindness and more affection will no doubt be poured out. Along with the broken hearted state that exists is every sweet memory that is being formed. There is hope, and Haley continues to battle, but we do need a cure and it can’t come soon enough. How will the work that is being done by Haley’s Heroes affect the rest of the CLN1 Batten community? I agree with Jennifer Palermo who is a mom to a darling little girl named Amelia. Amelia is another little warrior who battles CLN1 Batten. Jennifer stated that Melissa is a fierce advocate for Haley. She is aware of the fact that the work that is being done by Haley’s Heroes is helping to bring about progress. Every amount of effort that is put forth is part of the solution.
I have now heard several different Batten parents state that they do not look too far ahead. They take life as it comes to them, trying to live for that day, taking each day one moment at a time. This makes sense because I think that looking too far down the road brings about worry concerning things that you cannot control. I think that the Pollmans have the right philosophy concerning how you go about handling something like what they are facing. They are giving this battle everything that they have while maintaining a home life that is very family orientated. With the following, Melissa shares a little bit concerning their approach to their situation, “We have lived for the past three years with the unknown and will continue to do so. We have no idea what tomorrow holds for our family. For this reason, we have chosen to not live in fear but to live to the fullest. Don't get me wrong, we aren't taking unnecessary risks but we aren't putting our lives on hold either.” Melissa made the statement that “loving Haley is easy.” This writer believes you Melissa. I absolutely do! Melissa explains a little further as to why Haley is so special and so loved by her family, “She is sensitive to others feelings. She is sweet natured and full of life. She is fearless. She LOVES big, especially her sisters and her brother. Haley is a jokester. She has a great sense of humor ... There is nothing better than being with my family. Watching our four kids interact and how they love each other fills my heart. The love I feel for Haley and all my children is more than I can put into words.” And yet, there is one that battles and that one is a princess, affectionately known as the Haley Bug. Keep fighting Haley. That’s a pretty special you have there! Thanks for taking the time,
Blogger and Advocate
“We’ve decided that, rather than spending the rest of the time we have with him being sad, we’re going to enjoy our time with him and his siblings as much as we can. We’re going on adventures, spending more time playing together, snuggling more…doing the things we have always done but with less wasted time.”
Kiernan’s Mom and Advocate
I hope that my readers do not mind me drawing from my experience of being a father to someone who has special needs. That is from the things experienced by being Benjamin’s father. Some things we can draw from to create comparisons. That being with the things that we share in common with those who have children with rare diseases. I am always careful to draw a definite line that needs to be placed between our circumstances and theirs. Parents that receive a diagnosis that says that their child is fatal will experience things that are beyond anything that we have been through. The story that I am headed towards as I write these words will detail the journey of a family that will experience more than we have seen. This is because rare circumstances create an experience that is not seen by many. Being a parent to someone with special needs never crossed my mind as we began to raise our first two boys. Perhaps we should have left things there but our family did not yet seem complete. We wanted a little girl but that was not to be. Instead, we were given the opportunity to be parents to one very special human being. This, being our son Benjamin. Life seemed so normal up to the point that we had him. It was a normal go to work to raise a family kind of an experience. Things changed after we had him and we had to learn to adapt. Certainly, my life revolved around providing for my family but the extra needs that existed were never far away in my thinking. Much was left to my wife as I had to work to support my young family but I stayed involved as much as I could.
Our son was sick a lot and that required more time at the doctor’s office. There were battles over insurance coverage for things like durable medical equipment and things they would not cover. There were trips to the hospital and surgeries that otherwise would not have been needed. Getting him services that were needed required a lot of work. There were days that my wife’s frustration boiled over after dealing with various people over the phone. Everything from getting a handle on constant ear infections to controlling seizures were dealt with. We were never told that our son’s condition was fatal, although we were once told that it appeared to be degenerative in nature. This was after genetic testing was performed at a young age. Here it is, 30 years later. We have seen some of his skills start to deteriorate but he is still with us and we are happy to have had him in our presence. He is a special guy! While there are some ways in which our circumstances have been similar, there is nothing like having doctors reveal to you the fact that your child has a fatal disease for which there is no treatment and no cure. I think that being the parent to someone with special needs is a special experience. For a long time, I have felt that being a parent to one like our Benjamin is a special calling in life. Those who have children with a rare and fatal disease would love to have been dealt the same hand that we were. Many start their journeys believing that their child has a condition that they can live with. However, as the search for answers progresses, the news worsens.
Sometimes, more than one diagnosis is received with each one being progressively worse. Whatever the case may be, I believe that being a parent to one of these rare kids is a special calling as well. This, even though there may be much sadness involved. You have never loved to the degree that a person does, until you have loved a child with a rare disease. Call me naive, but I do believe that these kids produce in us a type of love that is like none other. Working through the heartache in order to care for a rare child like this produces in people a type of love that is profound and undying. There is a bond formed that is stronger than any other. Knowing the plight of a child that is on a rare journey and seeing how hard they work at just living a child’s life does something inside of a person. There are feelings produced that can’t necessarily be described in detail. It’s the type of love that can overwhelm a person. These kids can change people and also the direction of a person’s life. They often do that! There is always hope as awareness is raised and the promise of clinical trials come about. In some cases, positive results occur. What may happen for one family in the way of progress towards a cure can often bring hope to others. A breakthrough in research for one type of disease can happen for another. I have mentioned this previously and the thought comes to mind once again. This, as we begin a story about another child that has embarked on a journey with Sanfilippo Syndrome. Would it not be wonderful if the parents of a rare child could say, “My child was found to have a rare and fatal disease for which there is no cure, but then, there was this clinical trial ... “?
Two People Meet
This next story takes place in the great state of Tennessee, here in the USA. Like so many of the stories that I have done about rare children, this one starts with two people that meet and fall in love. This is that type of story and it’s time to get started. The story began in 1995 when Shaun O’Neal and Amanda Ogle met while attending high school. It was no accident that they both had French class together and that is where they caught each other’s eye. Shaun was a junior at that time and Amanda was a Sophomore. They didn’t begin to date right away as that began to take place starting in 1996. Shaun was at that time, 18 years old and Amanda was 16. It was as they started dating that they quickly realized that they were something special together. Shaun and Amanda knew that they were meant for one another. They would however, take their time and they did not rush into things. Shaun and Amanda would date for three and a half years and in the course of time, they would make plans to marry. It would happen in March of the year 2000 that this couple would become man and wife. During this time together, they would talk about their plans for the future. Amanda had a desire to teach and would pursue a Masters degree in education. Shaun wanted to have a career in law enforcement and that he would do. He began to serve his community, working at a local police department the same year that they were married. This couple’s plans for their future also included having a family after they were established in a career. Amanda would continue with her education, earning her degree and beginning to teach. It was during Amanda’s first year of teaching that her and Shaun would receive some very welcomed news. They were going to have their first child.
Things were coming together for this young couple and they were so excited as the time arrived for Amanda to deliver her baby. Both her and Shaun had met their goals for entering a career field of their choice and now, they would be parents. It would be in July of 2005 that they would welcome a little girl into their world. Nothing could be more special. They would name their newborn daughter Lierin and you just know that everyone that laid eyes on Lierin would adore her. She was born with all of her fingers and toes and she was so perfect in every way. Life was good and it was getting better by the day. Parenting their new daughter and anticipating new additions to the family led Shaun and Amanda to make a difficult decision. That being that it was best for Amanda to stay home and be a full time mom. She would do that after working in the teaching profession for a year and the couple felt good about their decision. They so enjoyed their time with little Lierin as they watched her grow and family life was to mom and dad’s liking. After adjusting to their new role as parents and enjoying their firstborn daughter for a time, the time seemed right to add to their family. Amanda would soon after be expecting their second child and the anticipation of their family growing was exciting. It would be in April of 2008 that Shaun and Amanda would welcome a baby boy into the family. This child they would name Kellen and just like his big sister had been three years before, baby Kellen was born healthy and whole. Shaun and Amanda now had one of each, a girl and a boy. Their little family was certainly coming together and the joy of having children was now multiplied by two.
Time would continue, just as it always does. Shaun was busy with work and growing as a law enforcement officer. He loved what he was doing for a career and he was especially pleased that he could provide for a growing family. Shaun loved being a dad and spending time with his family during off duty hours. That is a huge part of why we all work. That being to provide for the ones we love. For Amanda’s part, she loved the days spent with her two children, as well as, being a supportive companion to Shaun. As the two children continued to grow, the question as to how the O’Neals would handle their kid’s education would be at the forefront of their thinking. After discussing things among themselves, Shaun and Amanda would make the decision to have their children home school. This important decision was made in 2010, right before Lierin was to be starting kindergarten. There is some great curriculum out there for sure for home schooling but the O’Neals had something else going for them. That was the fact that Amanda was a trained educator. Why would they not take advantage of her training while providing a structured environment for their kids? Speaking of children, the O’Neal family was not yet complete and they would work on that! It would be the following spring that the O’Neals would welcome their next bundle of joy into the family. Lierin and Kellen would soon say hello to their new baby brother as Amanda would give Shaun another son. This little guy they would name Rory. Of course, just like his older siblings, Rory was a healthy and complete baby boy. He was loved instantly upon his delivery and the O’Neals were now a family of five.
Having two kids was wonderful but having three children made things feel complete. A family of five has a nice ring to it and a parent’s attention is certainly divided enough with three children. There was however, more for this family to experience together and they felt like something was missing. They did not yet know what that was but Shaun and Amanda did feel that something was missing for them as parents. Amanda explains that there was this urge to have yet another child and she talks about where it came from with the following, “After Rory was born, we thought we were done having babies, but all throughout 2013, Shaun and I kept feeling like someone was missing. We even accidentally ordered an extra kid’s meal at a restaurant more than once! We fought the feeling for a whole year before we decided to give in.” Someone very special would soon be on the way as Shaun and Amanda made the decision to have yet another child. There was someone who would enter their lives that would cause them to experience something that as parents, they had not yet known. They would experience things related to this child that would not be seen in the others. Shaun and Amanda would love this one as they did the other three. The only thing is that child number four would require more. Much more in the way of time and attention. Feelings that had not yet been felt would also be experienced. So it was in October of 2014 that Amanda would give birth to her fourth child. She would deliver to the family another baby boy and they would name him Kiernan. According to Amanda, Kiernan was in a hurry to get here. He was born at 37 weeks of gestation.
The Complete Family
While not being premature, Kiernan would come to this family a little early. This, while at the beginning of what would be considered the normal range of time (around 40 weeks). In addition to that, Amanda stated that Kiernan was born just seventeen minutes after the time that they would reach the hospital. Kiernan was born at Blount Memorial Hospital in Maryville, Tennessee, here in the USA. There was no trauma associated with his delivery but he did have a little bit of a problem with his breathing at first. The staff at the hospital would monitor this and Kiernan’s lungs would soon correct themselves without any time in NICU. You just know that he was a flawless looking little baby. He had all his fingers and toes and just like his sister and brothers had, Kiernan came to the showroom floor covered in brand new baby skin! Amanda felt nothing but “pure love” as she held Kiernan for the first time and who could not understand that? She held the person that would forever be the baby of the family in her arms. Not only that but she held the little person that was the missing piece to the O’Neal family. Shaun was a proud father for the fourth time and he was overjoyed with the experience. A love like none other would be experienced by everyone that Kiernan would meet and that would all begin as Kiernan met his parents for the first time. This writer knows from experience what it is like to be a parent to someone with special needs. However, the O’Neals would soon experience feelings beyond what I have felt. Kiernan was special in a very special way!
It is amazing how time flies and how quickly life passes by. It was now fourteen years since Shaun and Amanda had married. They were now the proud parents of four children and life as a family had really taken shape. They were active in life and in their community. Shaun was serving his community through his work and serving his family as well by providing for them. Amanda was now a full time mom that had her hands full. She was not only responsible for caring for her kids but she was also responsible for educating them. She was learning things along the way herself because as the old adage says, “You learn something new every day”. There were however, new challenges that were not yet expected but that would be revealed as Kiernan continued to grow. In the beginning, Kiernan would grow and excel in meeting his developmental milestones. His early development was normal and he would actually achieve his early milestones at a faster pace than his siblings had. Kiernan would begin to use his words about the same time that his brothers had but he didn’t start speaking in sentences as early as they did. Moms are generally pretty observant when it comes to the development of their child’s skills. Amanda also had the experience of teaching her other children using her education as a foundation. As time moved forward, it was apparent that Kiernan was having a difficult time in certain areas. For example, he was having problems with his alphabet and with learning to count.
It is true that children do develop their skills at different rates of speed so Shaun and Amanda were not too worried in the beginning of things. They assumed that Kiernan would catch up when he was ready. It made sense at that time that they had no idea. There were special circumstances that surrounded their youngest son. There was something else more obvious and very concerning that was taking place with Kiernan. That was that he was unwilling to potty train. Every parent looks forward to the time that their child becomes independent in this way. Changing a child or supervising them in the bathroom can, of course, be very time consuming. Amanda would tell me that they had friends whose children were also late in potty training and so, they thought that Kiernan would catch up in this area as well. They had no idea at this time that there was something significant developing with Kiernan but more would soon be revealed. It was in March of 2019 that Kiernan was brought to the doctor for his 4 year old wellness check. While there, the doctor did take notice concerning Kiernan’s speech delay and she stated at that time that Kiernan would benefit from having speech therapy. The O’Neals were referred to their local school system which offered the therapy free of charge. Once the school office was contacted, the testing required for Kiernan was set up and this is where more would be revealed concerning Shaun and Amanda’s youngest child. They would test Kiernan in all of the key areas of his development and would find that he had significant delays. There were special circumstances surrounding Kiernan.
There are oftentimes situations in which children are just a little bit slower at learning. These situations can be turned around by providing the child with additional help but sometimes, difficulties like this can be an indication of a larger issue. Kiernan would be accepted into a developmental pre-k class at a local school and that seemed to be a good fit for his individual needs. The special type of attention that Kiernan would get in the program seemed to pay off as the O’Neals would see growth in Kiernan after he started school. This was noticed by Shaun and Amanda who also noticed that Kiernan would backslide a bit after breaks from the classroom. Kiernan would love going to school and doing so seemed to be a good thing for him. Although encouraged by what they were seeing, Shaun and Amanda had begun to resign themselves to the fact that something was “wrong” with Kiernan. They just did not yet know what that was. Child number four had special needs and he was bringing to the family special circumstances that would have to be dealt with. What appeared to be the problem at the time was that Kiernan had something like autism or Tourette’s Syndrome. Maybe it wasn’t one of those specifically but Shaun and Amanda thought that it was something along those lines. They began to do research on their own and while they did see similarities between what they suspected and what they were seeing in Kiernan, there just wasn’t a complete fit.
A Life with Kiernan
Whatever the case concerning Kiernan would turn out to be, Shaun and Amanda were in the process of preparing themselves. They knew that Kiernan’s special needs were going to require extra attention and help for perhaps his entire lifetime. Here is what Amanda had to say about the realization concerning Kiernan’s situation, “We had discussed the fact that he was unlikely to ever be able to live independently, and we were okay with that because we didn’t think that he would feel or realize that he was missing out on something.” There is a time in which parents of a child with special needs start to understand that caring for their special child may be a lifelong commitment. Some might see this as a burden while others see it as an opportunity to experience love in a special kind of way. People with special needs often evoke feelings in a person that may not otherwise be drawn to the surface. The extra care and attention that is required can create a bond that is strong and unbreakable. The bond that was being created between Kiernan and his family was one that was just that. Their love for Kiernan was growing by the day and there was nothing that would change that. They did know at the time that the love that they had for this little guy would be stretched to the degree that it was about to be. There are not many people that would tie the symptoms that Shaun and Amanda were seeing to a rare disease. Most would not even think to consider it at this point. Perhaps, only if there was a known case within the family’s history. It was actually what Amanda would refer to as “a bit of a fluke” that the events leading to Kiernan’s diagnosis would take place. This would all happen as Kiernan would receive medical attention for something completely unrelated.
Amanda explained that Kiernan was a chewer, meaning that he would chew on random objects that he would come across. In this particular case, he had chosen to chew on the end of a bungee cord and would end up getting it hooked in his mouth. As a result, he would develop an infection and that was why he needed to be seen by a medical professional. This would take place in April of this year (2020) and it would be at that time Kiernan would be seen by a nurse practitioner. The NP would deal with the infection but as he did, he noticed something about Kiernan. That was that his facial features were “coarse” in appearance and this led him to believe that Kiernan may have had a form of MPS (Mucopolysaccharidoses). He suspected either Hurler or Hunter Syndrome (MPS I and MPS II) and he wanted Kiernan to be tested genetically. Like with many things in the year 2020, COVID-19 would interfere with Kiernan being seen in person by a genetic counselor but an appointment would take place regardless. It would take a few weeks but a telemedicine appointment would take place on May the 12th of this year. Several questions would be asked by the genetic counselor at that time and she would look at Kiernan through the webcam. Amanda said that the counselor was sufficiently convinced that Kiernan could have a genetic disorder and she would have Kiernan brought in to have blood drawn the following day.
Having the suspicion that Kiernan had a form of MPS made the testing more simple to perform. They would do testing specifically for an MPS related disorder using a kit provided by the company BioMarin. It would take about three weeks to get the results of the testing and once they were received, the O’Neal family would be changed forever. There are not many families that would ever suspect that their child has a rare disease as symptoms start to appear. We would usually suspect that whatever the problem, the issues surrounding a child can be resolved through treatment. When a diagnosis for a rare disease is given, life takes on a different dimension. A family experiences things that the majority of people will never see in a lifetime. There are feelings felt that are impossible to feel unless you have experienced something similar. The families go on a journey with their child and that journey will take them down a road less traveled. It would, in fact, be revealed that Kiernan did have a form of MPS but it was not one of the forms that had been suggested. I’ll let Amanda’s own words explain while giving us her and Shaun’s reaction, “On June 8, we received the phone call that would forever change our lives. The nurse told us that the test was negative for both Hunter and Hurler, but that it showed that he had a condition called Sanfilippo Syndrome. That completely knocked the breath out of us.” There is no doubt that the O’Neals would have been completely dismayed had Kiernan been found to have either Hunter or Hurler Syndrome. However, there was a reason that the news concerning the Sanfilippo diagnosis was especially hard to be informed about.
You see, it was just a little while ago, this year at the end of April, that a friend of Shaun and Amanda had lost a son to Sanfilippo type A. It seems cruelly ironic that their own son would receive a similar diagnosis. How devastating it would be to receive this news concerning their Kiernan. This special little man who had made their family complete also had Sanfilippo Syndrome. Right away, Shaun and Amanda knew what this meant. Amanda talks about what their immediate response was and what the days that have followed have been like for them, “We were, as is to be expected, absolutely devastated. We didn’t know how we were going to go on with our everyday lives when our world was just upended. There were several days of crying followed by weeks (so far) of feeling completely physically, mentally, and emotionally exhausted.” Shaun and Amanda are, at this point, not that far removed from having received the diagnosis. Not far at all! Amanda stated that they would meet with the geneticist, Dr. Hamm, the day after receiving the diagnosis over the phone. This would take place at East Tennessee Children’s Hospital in Knoxville. They would receive more details about the disease and would be told that Kiernan has Sanfilippo type B. The doctor discussed what additional testing was needed and also what the possibilities for clinical trials might be. Amanda would tell me that her dealings with all of the doctors that they have come in contact with has been positive. They have all shown her family an attitude of compassion and all of them have been helpful. Many of the phone calls that they have received have been from the doctors directly and not nurses or other staff members only.
Having doctors that care and who are empathetic makes a tremendous difference. There are not many things worse than to be given the news concerning your child’s diagnosis in a careless fashion. I have done stories in which this had been the case. The parents are just left alone to deal with things on their own. All, while being despondent and heartbroken. This was not the case for the O’Neals. Not only did the doctors deal caringly with the O’Neal family but they communicated well with each other. Here is what Amanda had to say about this, “Our pediatrician has been very supportive, and she knew about the diagnosis before we told her. We were shocked because that was the first time we’ve experienced such good communication between doctors’ offices. Dr. Hamm has been amazing!” For his part, the geneticist has not only made mention of a clinical trial that Kiernan may qualify for but he is actively helping with trying to get Kiernan placed in the trial. Not just any trial will do for mister Kiernan. He has Sanfilippo type B. There are four types of Sanfilippo Syndrome. They have been given the designations Sanfilippo type A, type B, type C, and type D. These trials are never a one size fits all since each one is specific to the enzyme that is affected. The very good news is that there is a clinical trial that is available at Nationwide Children’s Hospital that may become available to Kiernan. It involves Gene Replacement Therapy.
To explain things in the general sense, this is how Gene Replacement Therapy works. It starts with having a scientist create a good copy of the non-working or missing gene. The gene is then placed in what is called a vector. That acts as an envelope that will hopefully carry the gene to places it needs to go within the body. The vector is a naturally occurring virus that is chosen to do the job and it is used after it has had changes made to it. Interesting for sure, using a virus to perform such an important function. It sounds simple but the task is complex. This is a one time treatment and not a recurring type of therapy, such as Enzyme Replacement. The hope is that the cells within the body that are being affected by the missing enzyme will soon begin to function normally after GRT. This is amazing stuff and it is something so many parents with rare children hope to see happen in time to help their child (or children). The scientists that work on these projects are to me, another group of heroic individuals. As this is being written, Kiernan is in the process of being evaluated for eligibility to gain entrance into the program. So far, it seems as though he is a likely candidate and both Shaun and Amanda are guardedly optimistic. Maybe excited at the possibility is a better way to put it! Would it not be wonderful if this family could tell people about how their lives were changed by a clinical trial for Kiernan? This, as his life, and the quality of it, had been extended into adulthood. Remember, there was a time when the O’Neals thought that they perhaps had a child with something like autism on their hands. They gladly accepted the fact that they may have a son that would need help for a lifetime. They were okay with that and this, I completely understand!
I have asked the question so many times now. What is it about these kids? What is different about a child that has a disease that is rare and fatal? Is it the fact that they have to work so hard at just being a kid? Is it that they display a type of innocent resilience that is not seen in others? Is it being aware of the plight that is created by their condition? Is it the fact that we know, they are only here for a time? Is it the way that we see them battle, all the while, doing so with a smile? This, for as long as their bodies will allow them to? Is it the things that they teach us about what is important in life? Perhaps it is all of these things put together and so much more. The importance of Kiernan’s life to this family cannot be overstated. He is a very special little man. Here is what his mom, Amanda, had to say about him, “Even before we knew his diagnosis, even before his developmental delays became obvious, we all knew that Kiernan was a very special spirit, an absolutely integral part of our family. Our love for him is as potent and life-sustaining as the breath in our lungs and the blood in our veins. Kiernan’s diagnosis has really brought home to us that none of us is promised tomorrow.” Knowing this has caused this family to enjoy each and every day that they have with Kiernan and each other. Spending time with family is more important than any material pleasure that can gain our attention. The hope and prayer of Kiernan’s parents is that he will be accepted into the clinical trial that they are applying for. They are so close at this point. It would be so wonderful to have Kiernan’s life extended into adulthood but the O’Neals will take nothing for granted. They are grateful for each day that they have with him.
This family has decided that they will do their best to give their best to Kiernan. This, by trying to be as upbeat as possible while enjoying the time that they have with him. That may be a very long time, especially if Kiernan is accepted into the trial. The families that have gained access to these trials have often seen positive results and one would expect the same for the Kiernan and the O’Neal family. I know of so many other rare families that are just hoping that a trial for their child may become available soon. Just like the O’Neals, these others are giving their children the best life that they possibly can. A love that is profound and undying. That is what I see when I look at the details for each one of these stories. All you have to do is to look into the faces of these children to know why that type of love exists. This is what the heart is capable of when love is involved. Regardless of what happens, they will make Kiernan’s life as amazing as possible. Kiernan’s siblings along with his mom and dad will give him the attention that he so richly deserves while dealing with difficulties that his condition brings with it. This is not always an easy task. Repeating a part of our opening quote, Amanda explains their method of dealing with the challenge before them, “We’re going on adventures, spending more time playing together, snuggling more…doing the things we have always done but with less wasted time.” They do not know in complete form what the future will hold but Shaun and Amanda will make the best of the present that they are capable of.
Kids that Amaze
Have you ever been charmed by a little person? By their actions and the cute things that they do? Kids in general are special and that is why we enjoy having them around. Rare kids, however, are the most special and the most amazing. This even though there are challenges associated with the conditions that they battle. Their presence fills any space that they find themselves in. Amanda explained the experience of having Kiernan at their house in this way, “He brings all of us so much joy, so much laughter, and, admittedly, a bit of frustration (though, we try hard to keep that at bay since we know he can’t help some of the things that frustrate us). He is one of the sweetest, happiest children we’ve ever met, and he spreads his joy to all around him. Everyone who is blessed to get to know Kiernan can’t help but fall in love with him.” And you know what Shaun and Amanda? I believe you completely! The O’Neals are not alone in this. Not by a long shot. In addition to family and friends who are very supportive, they have discovered the community that they are a part of through social media. Receiving the insights of families that have faced the same challenges has been a great help. I know that they will be able to make themselves available to new families that come on board as their children are diagnosed. Their friend Chester was previously mentioned as having lost his son Lucas to Sanfilippo just prior to Kiernan’s diagnosis. Chester has been a true friend who has provided tremendous help to Shaun and Amanda at a local level.
The O’Neals are very new to Kiernan’s diagnosis and I so appreciate their willingness to tell others about their experience. They are trying to stay in the present time while not dwelling too much on what the future may hold. This, while also trying their best to get Kiernan all of the help that he needs. Although it is difficult, they try their best not to let worry and negative thinking consume their days. The time that they have to spend as a family is too precious but still, they do have their challenges. I know that Shaun and Amanda have worked at building a positive family foundation for themselves. This writer knows how important to our communities the men and women of law enforcement are and we, at this house, thank Shaun for his service. I know that he is every bit as good at fulfilling the requirements of his profession as he is at being a husband and a father. You just know that Amanda is exceptionally qualified to be the Mamma Bear of the house. Shaun not only does the work of a police officer but he also works part time with cattle at a ranch operation. This helps give Kiernan exposure to horses, cattle, and life in the country. The family keeps egg laying chickens and other messy little critters at their modest homestead. Mister Kiernan also does therapeutic horse riding and all of this together, makes him a real cowboy. Kiernan’s older sister and brothers are involved in TaeKwonDo and have been for the last two years. Lierin, who is the oldest, has just earned her probationary black belt and she instructs. You go girl! You get the picture, right? This is one really neat family!
There are people at the O’Neals church, and from their community, that have fasted on Kiernan’s behalf and prayers are continuously being said for him and his family. There have been GoFundMe accounts set up to help with Kiernan’s medical expenses and other people have found creative methods for raising funds. This includes things like selling baked goods and providing window decals free of charge to sell. The help for this family from others is ongoing and so appreciated. I think that show of support means as much to them as the funds that are being raised. Amanda explains while mentioning a big and upcoming event and it doesn’t end there. Here is what she had to say, “One of Shaun’s lifelong friends is organizing a benefit for Kiernan on Halloween with raffles, food, and activities for kids during the day and then a more adult-oriented party at night. We’ve even received money, prayers, and well-wishes from complete strangers. I think the biggest and most important effect of all of this is spreading awareness of this devastating disorder to others in our community.” Just showing that a person cares means so much to families like the O’Neals. Especially in this age where a “Me first” mentality seems to exist.
I sometimes think about what it would be like to be free of the responsibility, but I don’t think about it for very long. My experience of being a parent to someone with special needs was, I feel, meant to be. The experience of being Benjamin’s father is part of who I am. He is part of my identity as a person. Life would have been so much more simple had we not tried for that little girl that never came. I am so glad that he is part our lives. So you must know where I am going with this. I am going to ask, was this family meant to have someone like Kiernan in their lives? Was he sent to them? Kiernan would end up being the “something” that was missing. Whatever the outcome may be, will their lives have been made richer. This by having Kiernan come into their midst so that they can experience the type of love that they have for him? This may be a bigger question than people would want to entertain but I thought that it was worth asking. Regardless, Shaun and Amanda will do everything in their power to help their son win the battle that is Sanfilippo Syndrome. This they will do while the entire family enjoys each day with Kiernan. I’ll end with one final quote from Amanda, “We won’t stop advocating for him or making sure he gets all the treatment he needs, of course, but we want to make sure that’s not all his life is about…that he can still live a fun, joy-filled childhood, knowing how very much he is loved.” This is exactly what one would expect from a set of loving parents. A person couldn’t expect them to be anything but that when we are talking about a little guy like Kiernan. Thanks for taking the time to read his story!
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Highlighting a previous blog that might interest you:
Journey Unexpected - The Rich Family
One child in a family with a rare disease is a challenge. What if there is two? Heartbreak multiplied you pick up the pieces and will yourself to do your very best. A love that is profound and a bond that is stronger than any other is formed. Two little beauties in one family is two, too many but you seek to make a difference! A journey unexpected...