“We were given hope that day. We were given a community of people who understood us and validated how we were feeling and we have now all become like family.”
Reagan’s Mom and Advocate
It happens throughout the generations. People meet and they decide that their future will include one another. We were meant for this. By this I mean getting married and having a family. There are exceptions of course but family life is the center of the goals that most people set for themselves. If you have the love of a family, then you have something that money and possessions can’t give you. Finding the right career is important but having one is meant for being a support to the ones that you love. There are struggles that are associated with parenting a child but those are accepted as part of the process. The pride and the joy that one has in seeing their children grow and prosper is a big part of the cycle of life that we experience. What is there that we wouldn’t do for our children along the way? Some sacrifice time and resources but for most, parenting is simply a labor of love. Little league games and soccer matches, perhaps gymnastic or swim meets. Family life revolves around activities such as these. Then there are all of the family gatherings and graduations at the various levels of education. Time moves so quickly and much of life ends up being about the memories that we all have made together.
Parents naturally do whatever is needed to be done for their kids. Help with homework and being taken here or there. Doctors appointments and well, you name it. Those things happen under normal circumstances but what if things occur that are out of the norm? Children sometimes get sick and I am not talking about just a cold or the flu bug. The possibility of a life threatening illness taking place is part of the human condition. Sometimes children will have special needs. It could just be a learning disability that can be overcome. Maybe something more severe. Something like epilepsy or autism. One can be overcome with medication while the other could be a lifelong obstacle that requires a parent’s help. Being a parent of a child with special needs is to me, a special position in life. The things that are required in this role are, in many ways, very much more challenging. As a parent of someone with special needs, you may have been signed up for a lifelong commitment to your child. At least in some form. This writer is a parent to a 30 year adult with special needs. There have been challenges along the way but we have taken each one in stride because we love our son so much. He is a very special human being and most of the time, he is a joy to be around. We knew why things weren’t right with him when he was born because of family medical history. We’ve just accepted the challenges as they have come our way.
What if there is no indication that your child will inherit a condition that is transferred genetically? What if it all comes unexpectedly as things begin to go wrong with your child’s health? Your search for answers leads to the realization that your child has a rare disease. A disease that you have never heard of. Never before did the possibility of something like that happening ever cross your mind. What’s worse is that you find out that there is no cure and the diagnosis is one that tells you that your child is terminal. There is no news more difficult for a parent to receive than that. The shock and dismay leads to a grieving process for someone who is still in your presence. The grief doesn’t leave but it is pushed to the side as a resolve to help your child takes over. The feelings of being alone to deal with the situation dissipate as you discover that you are now part of a community that exists worldwide. There are others that have experienced the same things that you are going through. The existence of organizations that can help and potential clinical trials that have been promised give you hope. Social media was once just a distraction from everyday life. Now, it’s a way of connecting with those who share in your struggles.
For me, it was first the kids that battle Batten disease that caught my attention. Now, I have added to those whose journeys I follow, kids that battle Sanfilippo Syndrome, as well as, other MPS disorders. At the beginning, I was just so taken by the details of these stories. The parents display a type of love that is profound and undying. These kids and the way that they battle so innocently. All of their stories are ones that stir the emotions. These are children that we are talking about. I am taken by the resilient way in which they handle adversity and the way that they bounce back from everything that life throws their way. I think that it is a combination of knowing their plight while looking in at their innocent ways. It all seems so unfair, and yet, they handle the adversity that they face so gracefully. I know that these kids have their bad days but they always seem to bounce back. Having to face these types of circumstances will often produce people that are considered to be extraordinary. A parent’s way of dealing with the grief of such a situation will often result in them taking up the role of being an advocate. They may be an advocate for their own child but sometimes, they end up advocating for the entire community that they find themselves being a part of. This is the way that nonprofits get formed.
Whatever the case may be, parents will generally do whatever it takes to help their child to battle a rare disease. They search for any available treatment and would travel any distance necessary to get results. This is what helping a child to battle a rare disease does to parents. It takes ordinary people and turns them into people that will take extraordinary measures to help their child battle. They will go any distance, at whatever cost, to help their little warriors. If a parent could say, “My child had a rare disease for which there was no cure but then, there was this clinical trial that was available.” Would that not be wonderful? And with that, the disease which was terminal, was stopped in its tracks. That is what we would all wish could happen. That is the type of thing that brings hope and that is why parent advocates do what they do. This next story touches on many of the details that I have just shared and it is taking place in the great state of Georgia, here in the USA. Just like with many of the stories that I have done, this one starts with two people that meet and fall in love. This is another small town story and it began to happen in the city of Fairburn, Georgia. Let's get started!
Destined to Meet
How many times had Kirk McKenzie looked out the kitchen window of his family’s home and not known? In plain view as he frequently dropped off dishes after a meal, was a house belonging to the Power family. Inside that home was the person that he was meant to spend his life with. There had been other intriguing coincidences that would exist. Kirk’s best friend had gone to church with Erica Power and yet, Kirk and Erica had never met. Kirk’s brother had even been taught his kindergarten year by the grandmother of Erica. This is a small town that we are talking about and people knew each other. Even so, Kirk and Erica had lived on the same street for fifteen years and had never met one another. That is until they both met while working at the same local store, that being Jernigan’s Hardware and Gifts. This had taken place the year after Erica had graduated from high school and they both would begin to date in November of 2004. Kirk and Erica dated for six years prior to becoming engaged. It would be on Christmas Eve of 2010 that Kirk would ask Erica to become his wife. The young couple would wait nine months to be married for a very special reason. A date of significance would arrive on 9/10/11 and that is the day that they picked to get married. You see, Erica was part of a close knit family and she was very close to her grandparents.
The date that they picked for their wedding was actually the date that her grandparents had been married. That day would have been their 51st wedding anniversary. This, except for the fact that Erica had lost her grandfather to Leukemia when she was in the 11th grade. The day chosen was a special one and it was a day not easily forgotten. Especially with it being 9/10/11. Erica joked that Kirk should never forget an anniversary date like that. Well, to be honest, I don’t think that any of us could! The plans that Kirk and Erica had for their future were typical for what many young couples long for. A life of relative peace spent together in small town America. Raising a family in love while looking forward to all of the events that couples and future parents look forward to. Kirk and Erica wanted children, at least two. I suppose that what they wanted most was that their kids would be healthy but each had a minor preference for gender in the back of their minds. You see, Erica had grown to be very close to both her mother and her grandmother. So we are talking about a bond that existed between three generations of women. Erica would hope to one day have a daughter. Wouldn’t it be special to add a fourth generation to the bond that existed already with the women of the family? Kirk on the other hand had hoped to have a son one day and he had his reasons. Certainly, there is a bond between father and son that is special. Bringing up a son while training him in everything that living life requires is a special task for a dad. Sharing the love for activities that men enjoy doing together helps to create a bond between father and son that will last a lifetime.
And then, there is baseball! We’re talking about America’s pastime. There are so many of us that have fond memories of growing up around the sport of baseball. Some of us played for fun and the love of the sport, while others had talent and excelled at playing. So many kids in America learn about competition and fair play on the baseball diamond and so many of our childhood heroes are the great players of the game. Kirk loved baseball growing up and he still does. He was a standout player in high school and like many people his age, he had hoped to have a chance to play professionally. Kirk’s skill at his level on the baseball field would gain him an invite to a baseball camp as he attended high school. This was a big deal as the camp was put on by Major League Baseball. In attendance at the camp would be scouts and other representatives from many different major league teams. This would be Kirk’s big chance at a future in professional baseball but as it turned out, it was not meant to be. It would be about a week or so before the camp began that he injured his elbow and this left him unable to compete. Disappointed for sure, Kirk pressed on with life. He would actually play some semi-professional baseball but it would not lead to a career in the sport. What this all left him with however, was a love for the sport of baseball and a lot of knowledge that he could pass on to a son. Kirk wanted a son!
It wouldn’t take long for Erica to become pregnant. The happy news would be received four months after Kirk and Erica married. Their first child was to be a boy. Kirk would have the son that he had wanted. All would go well with Erica’s first pregnancy and her baby boy would be delivered on October the 14th of 2012. They would name their new little man Garrett and both mom and dad were so happy to say hello to him. Garrett came into this world ready to play ball! He had all of his fingers and toes and that was important because dad now had his future little leaguer. This is the best of times for a new family. Mom and dad are not far removed from their honeymoon and they are falling more in love with each other with each passing day. Now, the bond that they share with one another is shared with this new life. The joy of parenting a little person is shared between both the parents and that joy is shared with extended family. This is a beautiful thing as generations of people are sharing life together. Both Kirk and Erica got established in their work life while they began to raise little Garrett in the usual way. Garrett was the center of this couple’s attention and family life was to their liking. Why would it not be? The McKenzies didn’t rush into having another child but rather, they would wait a couple of years until the time was right. This makes perfect sense and the time would arrive for them to try for another child. Again, Erica would have no problem conceiving and soon, Garrett’s future sibling would be on the way.
Wouldn’t it be wonderful if this time around, Erica would get to have the little girl that she wanted. Having one of each, both a boy and a girl, would be special. In fact, that is what Erica would hope for as she states the following, “I prayed to God for it to be a girl. I wanted a little girl so bad. I loved my son so much but there is nothing like having a little girl.” Her second pregnancy would prove to be more difficult than the first one was. Erica said that she felt extremely sick for the entire nine months. What expectant moms often go through in order to bring a new life into the family! What would make it all worth the trouble was to hear the news that they would be welcoming a little girl into the family and that would in fact, be the case. Kirk and Erica would receive this news as the results of a sonogram were revealed. They would soon have a little girl to go with their little man and everyone was excited to know this. One thing that generally happens is that people start to think of names once the baby's gender is revealed. In this case, Erica already knew the baby’s name would be that of her grandmother. She would be given the name Rebecca. Kirk and Erica also had a middle name in mind and that was the name Reagan. This was a name that they really liked and it fit so well with the first name that they had picked. They couldn’t wait to meet their little girl and to give her this name.
The entrance of Rebecca Reagan into the world would not come without increased difficulty. This had already been a challenging pregnancy for Erica but she was so excited to be having a little girl. The challenge of carrying this baby increased as the time would draw near. It was two weeks before the delivery date that Erica started to have issues with dehydration. This would require several trips to the emergency room in order to get more fluids into Erica. Because she was getting sick, the doctor decided to induce labor a week early. The time for the delivery of this baby had come but again, another added challenge would arise. When it came time to induce labor, the doctors had found that the baby had flipped and had become breech. This was not a good decision on the baby’s part and this would give her the label of being an Unstable Lie baby. This, according to Erica, means that a baby can flip at “the drop of a hat”. It would seem that this little girl couldn't make up her mind, or perhaps she could and just knew that she was making things difficult for her mamma. The doctor had been prepared to deliver the McKenzie’s new baby via cesarean section but that would end up not being necessary. Erica explains with this, “They prepared me for a C-section and right before they were wheeling me back decided to check her one more time with an ultrasound. Well guess what? She was back head down. She knew mama didn’t want to go through all that. LOL.”
According to Erica even the doctor referred to baby Rebecca as “trouble”. I can only imagine that this would make him a little nervous, thinking that this baby better stay in the correct position for her exit from mom’s tummy. All of this was taking place at Piedmont Fayette Hospital in Fayetteville, Georgia and this is where the McKenzie’s new addition to their little family would make her entrance. Named in honor of her great grandmother Rebecca, It is the name Reagan that she would become known by. After a few hours of additional labor, baby Reagan would be born and oh, was everyone so happy to see her. Especially her mom! She had her little girl and she was so beautiful and special. With the exception of some jaundice, she was perfect in every way. She had all of her fingers and toes and she was covered in brand new baby skin. Not only that but baby Regan was born with a full head of dark brown hair. She was a perfect size and weight. She was 20 inches long and her little self weighed 7.1 pounds. Reagan would pass all of her newborn screenings and the family of four would be on their way home together in a few days. The experience of delivering her baby and getting to hold her for the first time was “everything” that Erica had hoped for. The big day was February the 28th of 2015. Dad had his future little leaguer and now, mom had her baby girl. It was all wonderful beyond belief. Things were at this point, perfect in every way. A perfect size little family and everyone was in great health. Family life was now even more to Kirk and Erica’s liking as things continued to come together for this young family. They had a boy and a girl, and they had each other. Their entire family was overjoyed with the addition of little Reagan. It seemed like the perfect situation and who could argue against the fact that it was?
Garrett was not yet three years old and now, his life was complimented with having a little sister. How perfect is that? He and baby Reagan were both close enough in age that they would grow close to one another as they continued to grow as little people. This young family was establishing themselves in life and in the community that they were a part of. Reagan was growing and she was growing to be prettier by the day. Being a mom to this little girl was everything that Erica had hoped for. She looked forward, each day, to seeing what Reagan would do next as she continued to develop into the little lady that she had dreamed of having. This was truly a special experience. As Reagan reached the 4-6 month age range, Erica looked for all of the normal milestones to be met in her daughter. At this point, the McKenzies had moved to Palmetto, Georgia. Garrett was a preschooler at that time and he was growing fast. Kirk was working for the city of South Fulton and Erica had just started working at the Eye Consultants in Atlanta. Not knowing, at this point, what the future would hold, Erica’s choice of vocation would prove to be useful to the family in more ways than just providing additional income. There was so much more to come as a family. In most cases, early development might include a child’s little limbs beginning to move with more purpose and there should be an increase in the quality of hand-eye coordination. There would be a lot of babbling taking place and an increase in new sounds should be noticed by mom and dad. Whatever the case may have been with Reagan at this point, Erica was noticing that her daughter was not achieving the milestones that she had seen with little Garrett at this age. The most notable thing was that Reagan was not sitting up yet.
Something was different and it was concerning enough that Erica would mention it to others. Once she did, Erica would be assured that Reagan would catch up and she was told to not worry just yet. Reagan was under the care of an amazing nurse practitioner named Jacquelyn McDowell. She is not only Reagan’s primary physician but also a family friend. Erica had great confidence in her as she offered words of encouragement. Even so, a flag had been raised by Reagan’s lack of progress and everyone would be keeping an eye on her. A mom’s intuition is like no one else’s and you just know that Erica would be watching with each passing day. The weeks and months would move forward as did life as a family. Life together was still a beautiful thing but Reagan would stay behind where she should be as she continued to grow. It would normally be between nine and fifteen months of age that a child would learn to walk. This had not been the case for Reagan. She was not yet walking at 18 months of age and again, her parents were concerned. On top of this, Reagan’s speech was not where it should be. Erica stated that Reagan was “just talking a lot of gibberish”. She had a lot to say but nothing that came out of her mouth made any sense. Reagan, like a lot of kids her age, had a chronic problem with ear infections. She would finish a round of medication only to have her ears infected again soon thereafter. Could this be part of the problem? Was her hearing impaired and causing an issue with the development of her speech? Reagan’s Nurse Practitioner would suggest that she be seen by an ear, nose, and throat doctor and she would set up the referral.
At this point, Reagan’s NP was concerned enough that she also recommended that Reagan be tested genetically. She had to be seeing enough in Reagan that there was concern about the possibility of an underlying condition. Concern about something outside of what would be considered normal. Kirk and Erica would make a reasonable decision and that was that they would first pursue getting answers in relationship to the issues with Reagan’s ears. So, the appointment with the ENT doctor would be attended and Reagan would soon have tubes placed in her ears. A hearing test would also be ordered and it would be in the form of an Auditory Brainstem Response (ABR) Evaluation. This is a test to measure how well each ear can pick up sound. This test also tells the physician how well the hearing nerve sends information that is received to the child’s brain. The test is normally done under sedation. The ABR would reveal that Reagan had mild to moderate hearing loss and this led everyone to believe that they had found the problem. It would be on September the 11th of 2017 that Reagan received her first pair of hearing aids. It is not unreasonable to think that any child would make it through to adulthood without some form of difficulty. So be it if that was all there was that had been taking place with this little princess. An issue with her hearing was certainly something that could be dealt with and overcome over a lifetime.
The next step was to get Reagan into therapy in order to deal with the effect that the hearing loss had on her speech. It would have been wonderful if the therapy had been completely effective but that would not be the case. Erica said that they would see progress initially but then Reagan would regress in that area. On top of the issue with Reagan’s hearing and speech, Erica would notice that there was something not right with her daughter’s vision. Reagan had been seen by Dr. Sethi, one of the doctors that Erica was working for in the past. This was because of an issue with her tear ducts. Blocked tear ducts are common in infants and in Reagan’s case, it caused her to tear excessively. Her tear ducts had never fully developed and the problem had been dealt with by the ophthalmologist. Dr. Sethi was another physician that was trusted completely by Erica. The doctor had dealt with Reagan’s vision exams in the past and she was now in for a routine check-up. Upon examining Reagan’s vision, Dr. Sethi noted that Reagan’s vision had appeared to have gotten worse. She wasn’t too worried about that at the time but the doctor had another concern and that had to do with Reagan’s facial features. Although Reagan was a very darling little girl, there was something noted in her appearance that caused the doctor to be concerned. She would ask Erica if she had ever considered having Reagan tested genetically. Could the issues with little Reagan be associated with a genetic disorder?
This was the second mention of having such a test done and Erica knew, she needed to take this type of action. Here it is in her own words, “I knew at that moment we had to do it. I had just had two doctors whom I trusted greatly tell me we should get this done. I called immediately and set up the appointment.” Erica would make that appointment and it would be at the genetics clinic associated with Emory University in Atlanta that little Reagan would be seen. It took about a month to get into an appointment once the call was made and the day would come for them to attend the appointment. Kirk would travel that day with Erica and Reagan to the appointment and while there, Reagan would be seen by two doctors. The first physician, Doctor Black, was involved in a fellowship at the clinic as she was in training. She was very kind and would be the first to spend time with the family as they all discussed Reagan’s medical history. The next person would be Doctor Li, who was an experienced geneticist. Her first remarks upon entering the room had to do with the fact that Reagan’s facial features were coarse in appearance. Kirk and Erica had not yet heard the term and neither knew what that meant. This would, of course, take them by surprise and Erica felt a little put off by the comment. This was her daughter after all. Dr. Li had recognized something in Reagan that had caused her to draw a preliminary conclusion. She started asking questions and then asked Erica if she could take Reagan’s picture. Of course they consented and so, Dr. Li took the picture and then turned it around so that Kirk and Erica could look at it.
For Dr. Li, what she was seeing was obvious to her although Kirk and Erica were, at this point, completely unaware. Erica recounted the doctor's words in this way and then shares what her response was. The doctor said, “I don’t know what kind but more than likely your daughter has a form of Mucopolysaccharidosis also known as MPS.” Erica was at that point mystified. Neither her nor Kirk knew all of the details or what this meant concerning Reagan’s future. Here is how Erica described her initial reaction and what she was told to be the next step, “I had no clue what to think. She spoke with us and explained everything and how we would go through testing to see what kind she had.” It always takes time to process information and the McKenzies would have that time as they waited on the test results to come back. For Erica, the wait for the results was “absolutely excruciating”. The wait for the findings would be seven weeks and that would, understandably, make the wait all the more difficult. Dr. Li had used a computer based application to compare Reagan’s facial features to known children having the disease, so there was a certain amount of assurance that Reagan had a form of MPS. Even so, there would be no conclusion to the search for answers until the results returned and this would be a most difficult thing to face as a family. Kirk remained hopeful for something positive to come from this and Erica would tell me that Kirk was her rock during the wait. Even with this, she admitted that she was “extremely depressed” during the time that they were in waiting. Who could not understand how this would be the case?
So very slowly, the time would go by and the day would approach for the results of the tests to be revealed. Is there ever a good time for bad news to be received? Usually not but something seems wrong when bad news or trying events happen around Christmas time. That time is supposed to be a time of joy and celebration but for the McKenzies, it would be anything but that in the year of 2018. It was five days before Christmas that Erica would receive the call that she probably expected and dreaded. Her reaction was exactly what one would expect. Here it is, stated in Erica’s own words, “On December 20th 2018 our world was completely shattered. I was at work and got the phone call from Dr. Li. She told me the results showed Reagan had MPS IIIa. I absolutely fell apart. My best friend Misty came in the office because she had answered the phone and knew who the call was from. She just sat and held me as I sobbed.” Erica stated that at a certain point, she was able to pull herself together enough to contact her family. She called her husband while her friend Misty called Erica’s mother. They then all met together at home and headed to the clinic at Emory. Erica wanted to be with Dr. Li in person to discuss the findings. She described what took place as they arrived at Emory, “When we arrived we were greeted with hugs and I’m sorries. Both Dr. Li and Dr. Black we’re ready to start fighting with us and for us. They had already been doing research that day trying to find any clinical trial they could get their hands on.”
The staff at the clinic had to know that this was a terrible time for such a diagnosis to be revealed. They also knew that it would take a little time to deal with the grief and for the family to process their feelings. Erica stated that the doctors at the genetics clinic said that they would help in any way that they could and to call them after New Years. Doctors Black and Li could not have been more caring than they were and that left Kirk and Erica with a positive impression of them. This is how Erica would describe her feelings about the two of them to me, “They both sat and shed tears with us and I couldn’t have asked for any better doctors than the both of them.” Even with this, Sanfilippo had become an unwelcomed guest at the McKenzie house over the holidays. For Kirk and Erica, and everyone in their extended family, “Christmas was not the same”. It would be impossible to set your feelings to the side during that time and it would leave even more idle time to sit and think about what the future may hold. At that point, there was nothing positive to take away from what was happening but it was Christmas and this young family knew that they were loved. I am positive that Reagan felt the love that was shared for her by those that surrounded her but did she know how enormous that amount of love was? She was diagnosed five days before Christmas. Beyond the passing of a loved one, I can’t imagine a more difficult thing to have to go through. Especially during the Christmas season. There would be a cause for hope in this family’s future but at this point, they had to feel like there wasn’t any.
For the McKenzies, Christmas of 2018 would be of a different type for obvious reasons. It would be filled with grief but that would not paralyze Erica. Just like it would be with so many people, Erica would want to learn as much as she could about Sanfilippo Syndrome. She would turn to the internet for finding information and that would lead to her viewing a video on YouTube. The video was about a little girl named Eliza O’Neill, and her family. It would be a few days before New Years that Erica would get the courage to reach out to Eliza’s father, Glenn O’Neill and when she did, it would make all the difference in the world. Any parent or family member that fights alongside a child with a rare condition is special in my eyes. Working past the grief over what the future holds in order to do the best that they can for their rare child is a difficult task. A love that is that is like none other, I’ve mentioned this over and over. I believe that it is that type of love that drives people to do their best at whatever level they are able to. Sometimes, people are in a position that allows them to do things that are beyond what most of us are able to. While trying to accomplish their best for their own child, they also accomplish things for others. This is how non-profit foundations come about. Some make a big difference and others have a profound impact on the community that they represent. Supporting families that have children afflicted with a rare disease is so important. Giving families hope, when it is there to give, is the greatest thing that can be done for them. That is what Glenn and Cara O’Neill have done for the families that battle Sanfilippo Syndrome. It started with the diagnosis of their daughter Eliza in the year 2013.
The O’Neill’s question as to why their beautiful little three year old was falling behind in her early development would lead them on a search for answers. After a lot of testing and an early diagnosis of Autism, they would learn that Eliza had a disease that was fatal and for which there was no cure. Eliza, had Sanfilippo Syndrome. The O’Neills would form a 501(c)3 non-profit organization which they named Cure Sanfilippo Foundation. A search of their website, curesanfilippofoundation.org, reveals that their purpose for creating Cure Sanfilippo was to “turn hope into action”. They do this by helping to bring about an increase in fundraising and through the elevation of awareness concerning Sanfilippo Syndrome. Also of the greatest importance is the support that they offer the families that battle Sanfilippo alongside their special children. Helping to bring about a cure for this dreadful disease will be done through accelerating research projects and promoting clinical trials that show promise. Helping to point families of children with Sanfilippo Syndrome in the direction of promising clinical trials is a big part of providing hope. Erica’s impression was that Cure Sanfilippo would be a big organization and she wasn’t sure that she would hear back from Glenn. It is a fact that the Cure Sanfilippo Foundation has gathered together an impressive group of individuals. This would include Glenn’s wife Cara, who is a Pediatrician who has served in both private practice, as well as in academic settings. As President of the foundation, Glenn is a busy guy but he would in fact reach out to Erica, even though they were in the middle of the holidays.
Here is how Erica described her reaction. “I was so shocked when Glenn immediately emailed me back and said he wanted to speak with Kirk and I. He wanted to know if we could talk New Year’s Day while they were headed back home from a vacation.” Like so many families that find themselves in the McKenzies shoes, they would soon find out that they were not alone. They were given the hope that would lift them up. They discovered that they were part of a community that existed worldwide. Part of Cure Sanfilippo’s goal is to join families together and to show them that they are part of an extended family of people that are there to support one another. The McKenzies would find out that there were others who understood what they were going through. Their feelings had been validated by others who were going through the same thing. As the weeks and months passed by, the McKenzies' understanding of what the Sanfilippo community meant to them would grow as they continued to connect with others. A huge part of that can be attributed to the work that Cure Sanfilippo does and Erica would give the organization their due credit with this, “The Cure Sanfilippo Foundation has been nothing but amazing and so supportive in this journey so far. I can’t help but thank them for everything they have done for us.” The goal for the McKenzies was, of course, to find some form of treatment that would help Reagan to overcome the symptoms of the disease. The O’Neills would have a big part in pointing the McKenzies in the direction of looking towards a clinical trial. Cure Sanfilippo Foundation has now raised ten million dollars through grass root efforts and has funded twenty-five research projects. They are helping to fund three different clinical trials that are treating over forty children. This is amazing!
Hoping for Hope
The O’Neill’s daughter was herself the recipient of a clinical trial performed here in the United States and Cure Sanfilippo would certainly encourage other families that battle Sanfilippo to get involved if at all possible. That is with the trials that provide hope for improvement in their children. It would in fact be in 2019 that an opportunity would become available for Reagan and the McKenzies and it would be a game changer. The McKenzies would find a clinical trial for Reagan that was different from the one that the O’Neills had participated in for Eliza. Even so, the O’Neills would be a great source of encouragement for them as they had led by example. It wouldn’t take place overnight and the family would have to wait a while into the new year but it would happen. Reagan would be accepted into a clinical trial that was taking place in a part of Europe and it would involve Gene Replacement Therapy. Traveling for the trial would bring with it a certain amount of difficulty but Kirk and Erica would do anything for Reagan with the help of those who would lend them support. They would travel any distance to help their daughter. Princess Reagan means the world to this family and they would do anything to fight for her “every step of the way”. Would it not be something if the trial was to stop Sanfilippo in its tracks? There are so many different rare diseases that affect kids. There are a lot of families that look for a clinical trial that would bring them hope and the possibility of their child overcoming the effects of a rare disease. So many different families in the Batten community come to mind as I write this. Erica would, in fact, feel very blessed to have had Reagan accepted into a trial of this type.
As parents to our son Benjamin, there have been challenges along the way. However, we feel that our lives have been made richer by having our son with us for all of these years. It would be wonderful if a parent with a child like Reagan could say something like, “My daughter had Sanfilippo Syndrome but there was this treatment that she received when she was much younger. Her condition was fatal but here she is, with us until this day!” Would that not be extremely special? This is the type of thing that I hope and pray to happen for people in the Batten disease community and all MPS communities. We cannot remove our attention from something like this, even with all that is taking place in this world right now! Reagan had her surgery on September the 18th of last year. There are so many parents of rare kids that hope for Gene Replacement Therapy to become a reality and for Reagan, it did happen! The trip overseas was crazy hectic but the procedure was performed. The good copy of the affected gene was placed in a virus that was injected into Reagan’s brain. The hope is that the virus traveled through the cerebral spinal fluid in order to be delivered to where the gene would do it’s work. The McKenzies stay overseas would be three weeks and it had to be quite an adventure for this family. They would have to make that trip four different times during the months of September through December of last year. What an amazing commitment but then, this is Reagan that we are talking about. The McKenzies would travel any distance, as many times as is necessary. They were actually supposed to go back in March of this year but were unable to travel because of restrictions related to the COVID-19 pandemic. Even so, Erica sees signs in Reagan that the good copy of the mutated gene has done it’s thing. How exciting!
Life continues for the McKenzie family although in some ways, life has had more twists and turns than they would have expected. Having a child with special circumstances of any type will affect the rest of the family for sure. This may be even more true when we are talking about a child with a rare disease like Sanfilippo. A condition that involves childhood dementia is so difficult to watch happen and it most definitely will have an affect on a child’s behavior. This, in turn, can affect everyone in the house. Erica has had bouts with anxiety and depression but she continues to fight her way through it. She has Reagan counting on her. Erica is not able to work at this time because of the extra demands that come with having a child like Reagan. Being her mamma is a special calling and Erica is up to the task. As far as Kirk is concerned, it hurts to see his baby girl being affected by Sanfilippo Syndrome but he is a fighter who will continue to fight for Reagan, as well as, his entire family. Once a winner on the baseball field, he’ll continue to compete in life while doing his very best. Together, they are a family living a family kind of life there in the state Georgia here in the USA. This writer is a tad bit jealous because he loves what he has witnessed concerning the positives that surround the culture in the Southern United States. Togetherness with each other and time spent with extended family and friends, life is often very sweet. Oh, and let's not forget little league baseball. Just as Kirk had hope for, he is continuing to pass on his love for baseball to Garrett who is now 7 years old. Much of the family’s off time during baseball season involves Garrett’s play on the baseball diamond.
Kirk feels that Garrett is more advanced at his age than he was when he was young. Kirk will tell you what his thoughts about Garrett are in his own words with this, “I honestly think he will be a great pitcher with him being left handed. I’ve been working with him on that and he’s very accurate and throws very fast for a 7 year old. I’ve never clocked him but I would guess he’s throwing somewhere in the ballpark around the 40 mph range.” That’s pretty fast for a kid that is only 7 years old. Not only is Garrett a great little leaguer but he is a great big brother. He loves Reagan and is very mature in giving help to her whenever it is needed. As for Reagan, Erica refers to her daughter as their “sour patch girl”. Here is what Erica has to say concerning that label for little Reagan, “First she’s sour and will hit you and then in a split second she wants to love on you and tell you she loves you and give you the biggest kiss. I couldn’t imagine my life without her.” I couldn’t imagine them being without Reagan either. Gosh, she is such a little doll and my hope and prayer is that they will have many successes with Reagan. This, because of going the distance for her to be involved in the clinical trial she is a part of. Reagan apparently has a guardian angel and that would be her great grandmother who passed into eternity on July the 25th of 2019. This was two weeks after the family got back from the screening visit for the trial.
Before her passing, Erica told her grandmother that she would need to watch out for little Reagan during all that they would go through. Especially if she were accepted into the trial. The McKenzies would end up getting the news that Reagan had been accepted into the trial on August 31st of 2019. I wonder if Reagan’s Nana was looking out for her! It’s very sweet what Erica had to say about the relationship between Reagan and Erica’s grandmother. Here is what she had to say, “Reagan still says Nana all the time. Even if there is nothing around she will look up and say “that’s Nana”. I swear she can see her and I find so much comfort in knowing she is with her.” There aren’t too many things that are worth more than being a close knit family. Even in one’s absense. One step at a time, we take each day as it comes to us. The McKenzies had no idea what the future held for them as they decided that their futures included each other. I am sure that they envisioned themselves spending time with family and with a community of friends. However, they had no idea, at the time, that they would be a part of a community that they had no knowledge of. That being the Sanfilippo Syndrome community and the community of those who care for kids with rare diseases. You all have so much in common with one another! The McKenzies are no longer new to this but are rather of the group that is able to come alongside those who are just receiving the news. They are also able to make others aware. These kids are so special!
Erica had this to say about their role in the community that they are a part of, “We aren’t afraid to talk about it now. Awareness is key. I also have been in contact with new families that are going through what we went through a year and a half ago. I love helping these new families understand they are not alone and understand that what they are feeling is valid.” I guess that this writer would have to say that he also feels that making people aware is important. But like I’ve said before, awareness yes but that wasn’t my first thought. It was that I was so taken by the details of these stories. Yes, a love that is profound and undying. That is what I see in each of these stories and that is why I take the time to put them into writing. I am so thankful for every opportunity that I am given and I am thankful for the McKenzies helping me to put their story into this blog. Reagan is a very special little girl and I wish her and her family all the best. Thanks for taking the time to read the Reagan’s story!
Blogger and Advocate
Concerning kids who battle Batten disease (neuronal ceroid lipofuscinoses or NCLs), “Is it them or is it us? Is it the feelings that they produce in us or is it that there is something truly special about them? I think that the answer has to be all of the above. It is them, but they also do something to us. Once you give a little piece of your heart to these kids and their families, they come close to taking all of it.” That is what happened to me!
Hello Everyone. These kids changed my life to a large degree as I was taken over the plight of one little girl. Through these kids, I have learned that it is important to look beyond ourselves and take notice. I've stated that Kids that battle are the most special and the most amazing and I believe that this is true. They are strong and resilient, even if unaware of the plight that they are involved with. I first became aware of kids that battle Batten disease as I learned of a little girl who fought the disorder. She really caught my attention and I began to write through a series of events …. never looking back. Hidden in between the titles of all of the stories is my own. These kids taught me how much I love to write. I’ll never win an award but the kids that battle taught me that I have a passion for sharing their stories with others. They are stories that are full of heartache and grief. From a distance though, you can observe a love that is profound and undying.
I have now branched out a bit to include some of the families whose lives have been changed by having a child who battles MPS (mucopolysaccharidoses).
The science behind how the cells of the human body work is fascinating. That being said, the result of what takes place when those cells don’t function correctly is devastating. Lysosmal Storage Disorders are my area of focus and these two groups of diseases are both LSDs. Perhaps I will add another lysosomal storage disorder community as time continues. Whatever the case may be, this all started because I was made aware of the plight of one little girl who changed me. I hope that you will take the time to look within. Thanks for doing so.
Blogger and Advocate
HOW THIS BLOG WORKS -
Take the titles listed below and go to month and year listed in the archives below (way below).
January 2017 -
*The Story Between The Lines
February 2017 -
*My Kind Of Royalty - CLN2
March 2017 -
*The Caring Type - CLN2
*Face to face: A Fairy-tale -CLN3
April 2017 -
*No Ordinary Love - CLN2
*A Rare Friendship
May 2017 -
*Tyrell and The Rare Love Story -CLN2
June 2017 -
*Seth and The Healing - CLN2
July 2017 -
*Little John and The Reason - CLN2
*Sands and The Scottish Princess - CLN3
August 2017 -
*A Rare Kind of Devotion -CLN2
*The Giggle Box - CLN2
September 2017 -
*Sweet Montanna and the Status - CLN3
October 2017 -
*The Blog about my Blog
*Sebastian's Story - CLN8
November 2017 -
*Kayden And The Change In Plans - CLN3
December 2017 -
*Those That Are Like Them
January 2018 -
*Nora Skye - I Know Just Where You Are - CLN2
*Brock and The Priceless Memories - CLN8
*Jamesy Boy and The Treatment - CLN2
*The Priceless Princess From Beyond - CLN2
*That Kind of Love - Conner's Story - CLN2
*What I See (She is a Butterfly) - CLN1
*No Longer Alone - Kristiina's Story - CLN2
*Things We've Talked About - Oscar's Story - CLN7
*The Reason Why - Hannah's Story - CLN3
*Kayla's Perfect Princess - Breanna's Story - CLN2
*Warriors Unaware - Mia and Kaleb - CLN2
*Her Little Story - CLN1
*Someone Like Raelynn
*Forever Royal - The Final Version - CLN2
*Awfully Beautiful - The Life of Noah and Laine - CLN2
*A Lifetime of Love - Tegen's Destiny CLN1
*Forever Beautiful - Gabi's Story - CLN7
*The Miracle Baby - Amelia's Story - CLN1
*Dylan's Life - A Small Town Story - CLN2
*Princess Grace and the Challenges - CLN2
*Anything for Tessa - Her Story - CLN2
*Haley Bug's Battle - A Family Story - CLN1
*Journey Unexpected - The Rich Family - CLN2
*My Life, My Everything - Lydia Rose - CLN2
*A Love That Hurts - Shashka's Story - CLN2
*The Things Looked Forward to - Addy’s Story - CLN3
*Love Complicated - Bailey Rae's Story - CLN3
*So Many Questions - Evelyn's Story - CLN2
*The Feelings They Produce - Violet's Story - CLN2
*Because of Love - Frankie's Story - CLN2
*The Need to Breathe - Scarlett's Story - CLN2
*The Beautiful Light of Haidyn Grace - MPS3
*Any Distance Traveled - Reagan's Story - MPS3
*The Missing Someone - Kiernan's Story - MPS3
*The Transformation - Victoria's Story - MPS3
*Not by Accident - The Charlie Grace Story - MPS1
*The Difference They Make - Harvy's Story - MPS6
*Love Profound - Veda Rae's Story - MPS3
Highlights from the beginning. When the blog was named gregster60.com -
Benjamin's Daddy - March and June of 2016 - Revised May 2017, titled Benjamin's Daddy Revised.
My Fearless Adventure - April and May of 2016
A Different Type of Warrior - January 2017
Larry - February 2017