I remember like yesterday the day she was born. It was June 16, 2001. We were driving to the hospital in the middle of the night so I could be with Jennifer for the birth of her first baby. It was going to be a girl and we were so excited!
Most people, if not all, have heard the term “Gold Star family”. These are the families that have lost a son or daughter that was serving in the military during a time of war. They have lost their loved ones in battle or as a result of enemy aggression. I have written on more than one occasion about the amount of respect that I have for those who have placed themselves in harm's way for the service of our country. I am an advocate for children that face rare diseases but I am also very much a supporter of our military. Although free time is scarce these days, I enjoy reading war stories. I suppose that I always will.
I know that it is risky to draw a comparison using Gold Star families but I don’t think that it will be disrespectful in this case. Parents that see their children go into battle live with the stress that comes with uncertainty and the possibility of great loss. The sacrifice is given by those who have died in service to country, but it becomes the sacrifice of the families once the battle is over. Yes, a comparison can be drawn. There is another type of family that has “Gold Star” status with me. That is the families that face having a child with a rare and fatal disease. The battle with Batten Disease, of course, comes to mind. The journey that these families take together becomes a battle in many ways. It requires the courage to carry on under very trying circumstances. With me, these families have a certain status. Yes, it is never one that would be sought after. It is not a status that would be wished on anyone. Having this status always results in having a broken heart that can’t be completely mended. Not on this side of eternity.
What my special guy Benjamin has is not necessarily fatal. We just don’t know what his longevity will be. While most people our age are enjoying the benefits of being Empty Nesters, we are still parenting. We care for a person that will never be able to completely care for himself. There are sacrifices that we have made in order to have this teddy bear of a guy in our house. There are financial sacrifices, as well as, others. I’m not bragging and I am not complaining. You know what? Benjamin is an awesome human being and he brings us so much joy. There is absolutely no way that I would do things differently. The love that we have for this guy constrains us and we will do for him whatever it takes for as long as we are able to. Likewise, the parents of children and young adults with Batten Disease are constrained by the love that they have for their children. For the parent of a child with a Batten Disease, the sacrifices are so much greater than what we have faced.
Batten families all have Gold Star status with me. I mean, what is it like to be told that your child has a disease that is fatal and for which there is no cure, no treatment? The way that you all care for your kids through all the stages that can be so devastating. Yes, in some cases, there is room for optimism but change is too slow in coming. Upon being given the news of the diagnoses you are completely devastated. You then pick yourselves up and begin to provide your child the best possible care. You provide them with everything that is needed to make their lives as normal as possible and you make sure that they experience everything that makes life worth living. You are there with them, every step along the way. Undying love is demonstrated through your actions. Throughout the journey, and as the difficulty increases, you take whatever action is necessary. The respect and admiration that I have for you grows with each story that I am allowed to tell. I get drawn into the details and I do the best that I can to feel what you feel. Just like with any book that one might read, a person tries to place themselves at the scene. I don’t mean to be overly dramatic here. I am just saying that I try to relate to what you as Batten families go through as you travel down the road you have to travel. It doesn’t matter if you have a child that is still in the battle, or one that has gained their reward. Either way, you have Gold Star status with me. This blog has become, in large part, my way to honor children and young adults that face Batten Disease. I want to honor their families as well for the sacrifices they make.
This next story is meant to honor a young lady named Montanna and her family as well. The first time that I saw Montanna was in a short video that her grandmother Joan had posted on Facebook. It was taken at Montanna’s Sweet 16 Birthday party. The video portrayed a picture of quiet beauty and grace of the rarest kind. That video had the awe factor for me. It was at that point that I felt I would love to have Montanna in this blog, and I am so happy that it has come about! I am no expert on having a teenage daughter as we are parents to three boys (grown men actually). I do, however, have an idea what it would be like to have a daughter who has just turned Sweet 16. She is her parents pride and joy. She is that and much more. She is the apple of her daddy’s eye and his prized possession. She is also a source of anxiety for dad as it is at this time that the boys start knocking at the front door. Hello Mr. Kaiser! Is Montanna home? Some of the adolescent tendencies are starting to disappear as she is on her way to maturity. Her and mom are starting to see eye to eye on some things and they look together at what might be achieved. The relationship deepens and mom is given access to her daughter’s goals and aspirations which are her dreams for the future. High school graduation and college are not that far away. This story is a little different in some respects although it is every bit as sweet, If not sweeter. This is Montanna’s story.
Montanna Marie Kaiser was born at River Falls Hospital in River Falls, Wisconsin. The big event took place on June 16, 2001 at exactly 7:03 am. Montanna would not be the first of her generation born to this proud family from the “Badger State”. Her grandmother, Joan Avery, told me that at the time she was born, there were already three grand-kids in the family. They were, however, all boys and the family looked forward to having a new baby girl in their midst. Nick and Jennifer Kaiser were so happy to be starting their family. They took turns holding their new baby girl in their arms and they were so excited. They had achieved many of their goals for starting their careers and life together. They wanted a family as well and the beginning of their dreams came true in a tiny package. She was so perfect. So complete. She had all her fingers and toes and she was covered in brand new pink baby skin. Oh, my gosh!
The young couple brought their new baby girl home to their little house in Hammond, Wisconsin. They were ready for her and she had her own, special place in the family’s home. Their excitement was felt and shared by an entire family. They would join them in making a lot of memories with Montanna as she continued to grow. That’s what families do. Jennifer would tell me that Montanna was a “pretty good baby overall”. Every new person brings their own little challenges and Montanna would be no exception. She was a very busy toddler and was given the nickname “Houdini” by her parents. This “because she was there one minute and gone the next”. Mom said that Montanna had met most of her milestones on time as she continued to develop. She even began to take flight at ten and a half months. You know what I mean, right?
Montanna’s grandma Joan looks back to the day that Montanna first came into the world. She stated all that she felt at the time in this way, “when she finally made her appearance we began to dream....big dreams. Not just the normal walking, talking, going to school dreams but things like Gymnastics (like her mom), grade school, middle school, high school sports. Also, things like cheer leading, dances, youth groups, Homecoming and football games. And eventually, prom and dress shopping, graduation, then, on to college, engagement, Bridal showers and Wedding, baby showers. It just goes on.” Those are big dreams, but why not dream big. After-all Montanna’s mom had achieved much in life. She had competed in Gymnastics from age 5 all the way through college as she attended the University of Wisconsin Stout. In fact Jennifer would go on to coach at the competitive level for all of her adult life. Why would you not expect that the same could be possible for little Montanna?
Things continued to move ahead and Montanna would begin to go to preschool. She absolutely loved going there and her parents were so proud. Montanna could not wait to go each morning as she awaked from her sleep. She did very well for the first year. The second year things began to change. Montanna would become more withdrawn and she no longer wanted to go at all. According to Jennifer, she literally had to be held onto as they went out the door. Jennifer felt at the time that perhaps she was just suffering from separation anxiety. Maybe there was someone that Montanna didn’t like. The family didn’t know at the time but this was the beginning of further challenges that lay ahead.
It was in Kindergarten that Montanna’s teacher noticed that she was having a problem that was affecting her learning. She thought that Montanna was possibly having an issue with tracking from the overhead back to her desk. She also felt that a trip to the eye doctor was a good idea. The Kaiser's would bring her to two different doctors. Jennifer stated that the first doctor felt that there was nothing wrong with Montanna’s eyes. He thought that there may just be a problem with her attention span. The second doctor was another story altogether. Jennifer said that seeing this doctor turned out to be the worst experience to date. She spoke about the entire incident in this way, “The doctor did all the necessary tests needed that they could do at their clinic. He then proceeded to tell me that she wanted attention and I needed to wake up because she was pulling the wool right over my eyes and she was very disobedient! She was naughty...because she was trying to tell us something but didn't know how!” Jennifer had walked into the appointment feeling confident that they may find an answer but instead left defeated and in tears. It is just my opinion but this doctor was completely out of line. He had no business making these assumptions. Just DO YOUR JOB and do it with compassion!
The details in this family's story may be different than in the others in some respects.There are, however, always similar frustrations for any parent seeking answers from the medical community. These are Jennifer’s exact words after her experience with the second eye doctor, “I walked out of there so defeated and feeling like I didn't know my child at all. I felt like how could two educated parents be so UNeducated about their 5 year old!”
As already stated, This is a different story about another family from a different place. This is the Avery/Kaiser family’s story. Although different in many of the details, there are so many things that they share in common with the other families as they looked for answers. Things like doctors who do not have an answer, misdiagnoses, and long periods of waiting for answers. Yes, in fact they shared much in common with many other families. More time would pass and the difficulties continued. According to Jennifer, Montanna was at that time very hyper and hard to handle. She continued to have difficulties at school. A small amount of progress would be made as a result of a recommendation. Someone had suggested that Montanna be brought to an eye clinic in Hudson, Wisconsin. Jennifer told me that they specialized in “just a bit more than most eye clinics”. The couple took this advice, and this time, Nick and Jennifer both went to the appointment with Montana. She received a lot of different tests and the family received a referral to see a retinal specialist at the University of Minnesota. They left feeling that at least they had a plan in place and this, I am sure, gave them some sense of relief. Jennifer would tell me that this led to many different appointments to the university hospital. In the end, Montanna would be diagnosed with Rod/Cone Dystrophy. This condition affects the rod and cone photoreceptors in the eyes. The disease most always leads to blindness in a child. This news would account for the difficulties stemming from Montanna’s eyesight issue. It would not, however, be the complete answer. While they were there, testing was performed for Batten Disease. I have to say that I applaud the staff for just knowing that was a possibility for her. The family would have to wait all summer long between Montanna’s kindergarten and first grade year to receive the results. In the end, they got the word that everything was negative. No Batten Disease.
I don’t pretend to be an expert on the testing that is performed for Battens. I do know that it can be difficult to diagnose and I have read about false negative findings before. Can you imagine the difficulty of dealing with a disease in a child when there is not a true diagnoses? The symptoms continue to develop, but you are left with not knowing what you are dealing with!
Jennifer said that the family was thrilled that it was only Montanna’s eyes that were affected, however, their optimism was based on incomplete information. In fact, those responsible for the testing never finished doing all the tests needed for determining the right diagnoses.
Montanna’s eyesight would continue to decline. Jennifer told me that other than Montanna’s vision, there was not a lot of other things that declined with her health over the next few years. She did, however, continue to have difficulties in her learning as she attended school. It was there that she would work with a few vision specialists. They were part of Montanna’s journey, but according to her mom, they were not a good fit for her. Montanna’s treatment would have to include medication for ADHD as her behavior was too crazy and impulsive. Jennifer said that without the meds she wouldn’t have gotten a thing done. Perhaps if her parents and the school staff knew what they were dealing with, they could have taken some different measures for Montanna’s education. They could, however, only act on what they knew at the time. The constant attention required and all the decision making had to have an impact on this family. One of my own sons had similar difficulties while in school. In fact he was also on meds for ADHD. Although we couldn’t have done things much differently at the time, there were many distractions. I personally had to attend a lot of meetings and doctor appointments.
I have to believe the dreams that Grandma Joan originally had for Montanna’s future really represented the feelings shared by the entire family. With the diagnoses of Rod/Cone Dystrophy and all subsequent issues taking place, a lot of those dreams must have seemed out of reach at that point. I am sure that the new emphasis was to just figure out what would work the best for Montanna in helping her to be successful at school and in life. There was, however, more challenging things to come.
Jennifer would tell me that it was sometime during Montanna’s 5th or 6th School year that things really started to decline for her. By this time she had completely lost her sight. The way that Montanna walked became more like a foot slide or shuffle instead of an actual step. By the 7th grade her speech had become greatly affected and she was difficult to understand. In Jennifer’s words, “We had to work hard at learning her new way of saying things.” By the 8th grade the family decided that there were just too many things that were changing with Montanna’s health. It was at that time that they decided to take her back to the University of Minnesota. There was a new Retinal Specialist on staff at that time. The doctor examined her eyes but also asked her to do some other things in addition. I personally would want to applaud this doctor for knowing what to do but that doesn’t make what Jennifer heard any less alarming. Jennifer put it to me like this, “He rolled his chair right over to me and looked me straight in the eyes and said, “I think we need to make an appointment with the Geneticist. I think we are dealing with something like Battens Disease.” There it was. That words we heard so very many years before! REALLY! SERIOUSLY! We went down this road once before and now, here we go again!”
It is difficult to get a timely appointment to see a Geneticist but the Kaiser’s found themselves with Montanna at the appointment just two weeks later. Jennifer told me that the same concerns that were voiced by the Retinal Specialist also came from the Geneticist. In fact Jennifer said that she heard “the same words.” The doctor made an appointment for Montanna to see the Neurologist and again they would all go together. The Neurologist felt that, for sure, that they were dealing with Batten Disease in Montanna’s case. An EEG of Montanna’s brain was ordered and the results came back showing that her brain was not normal.
In the midst of all this, the Kaiser’s would have to deal with an insurance change. They found out that they would no longer be covered where Montanna was being seen. At the University of Minnesota. What may have been a large and untimely inconvenience actually turned out to be a good thing for Montanna. The family received all the necessary referrals for new doctors at the Rochester Mayo Clinic in Minnesota. According to Jennifer, it was there that things really started to move forward. It is no wonder. When you look at their website it will tell you that the Mayo Clinic is rated number one in the nation. The neurologist that Montanna saw at the Mayo Clinic is still the doctor that sees her today. The Kaiser’s really like this doctor. He ordered an MRI for Montanna and, unfortunately, it revealed what is normally seen in patients with Batten Disease. It showed that in Montanna’s brain, there were areas that were shrinking. Jennifer would say that it was definitely not a normal 15 year old brain.
I have to believe that at this point, there was a mixture of feelings. There is no more guessing as to why her health was declining. Montanna had a degenerative disease that was causing all these issues. I am certain that as the family started to get the answers that they sought, they were overwhelmed with the reality of what the future would hold. Batten Disease is a battle and it is not one that is fought quickly.
The blessing of having Montanna with them was almost cut short by one event on a sunny August day a little over a year ago. It happened at the family swimming pool. The kids were all swimming and the moms were by the side of the pool. Montanna looked to be busy doing one of her favorite moves. You see, she enjoyed floating face down with her goggles on and her hair flowing down at her side. This is something that she did all the time. Jennifer continued to visit and a minute or so later, she looked back at Montanna who had not changed positions. Jennifer told Montanna’s sister Alexia to poke her and so she did. She said that Montanna then flipped over and as she did, she was completely blue in color! I thought that I would let Jennifer take over the story at this point by quoting her for the rest of the account,
“Alexia screamed and both my friend and I jumped in the pool and frantically pulled her out of the pool and onto the deck. The kids were all crying and I screamed for Alexia to call 911. Montanna had NO pulse. My friend and I started CPR. It felt like soooo long but we got her breathing. My friend held her because she was kicking and screaming and moaning when she came to. I got onto the phone with the 911 operator and talked everything over with her until the ambulance got there. While I was on the phone with 911 my daughter Alexia facetimed her dad at Football practice. He never usually had his phone on him at practice but that day for some reason he did and felt like he should answer it. He dropped everything and sprinted to his car all while hearing the sirens starting and he knew that it was going to his home. Montanna went by ambulance to the Menomonie ER. They checked her over and did a chest x-ray etc. She never coughed up water at any time during this. She was breathing fine and talking and looked to be just fine but the ER Doctor just felt for some reason they should have her stay over. He couldn't really give us a complete reason why, but just didn't feel quite right about letting her go home. We were admitted into the Hospital and we stayed the night.”
“The next morning they came and got Montanna to bring her to x-ray to check her lungs. While bringing her down to x-ray her heart rate dropped to almost nothing and she started to pass out. The doctor on call had an EKG ordered to see why this happened. He came in and explained to us that even though he was not a heart specialist he knew enough to know that her EKG was not normal and he had already sent it to Rochester Mayo. They had gotten back to him within 5 minutes and said this patient needed to be transferred there! Holy cow, what a turn of events. My husband went home to try and gather up clothes for us and her and followed the ambulance to Rochester Mayo in Rochester MN. We spent a week in the hospital there and Montanna ended up having an ICD (Implantable Cardioverter Defibrillator) put in for her heart.”
According to Jennifer, it was a scary experience and not one that she would want to repeat. I really can’t blame her there! She would also include the fact that having to give CPR to your own child is not something that she would wish on anyone. I am so happy that Montanna was okay and that she was able to return home with her family.
Jennifer said that they have seen a lot of decline in Montanna’s mobility over the last year. Although she is still walking, she has become unsteady on her feet at times. As if the challenges brought on by Montanna’s condition are not enough, the Kaiser’s have had to fight with their insurance company over something as simple as covering blood tests. It took eight months but Montanna, as well as Nick and Jennifer received the testing they had been seeking. It was finally determined that Montanna in fact has CLN3, or Juvenile Batten Disease. The mystery has been taken out of the journey, but the journey continues and it can be a battle at times. Jennifer referred to this disease, which many are fighting, as “cruel and unfair”. Who could argue that is, in fact, the case.
When it comes to dealing with Batten Disease, it is easy for me to tell you what I think it would be like. I try to convey the thoughts and feelings of those who trust me in doing so while doing the best that I can to understand. When I think about families from places like the state of Wisconsin, some things come to mind. I think about tradition and hard work. I think about family values and togetherness. I could picture the entire family together at a high school football game on Friday night and then in front of the television on Sunday, watching the Green Bay Packers play. Holidays and the sharing of milestone events come to mind. Events like the time your daughter won big for the first time at a gymnastics competition. And yes, If there are teenage girls in the house, a “Sweet 16” Birthday party.
As I was searching through photo albums for pictures of Montanna, I was able to confirm what I had already suspected about this family. At least I can safely assume some things. These folks all appear to be very closely knit together. They go through successes and failures together. In good times and in times of struggle they share with each other and hold one another up. They are a family of which a young lady named Montanna will always be a part. Regardless of the time she spends on this planet, her presence will always be felt. She will always be there, even if only in spirit, and in the hearts of those who adore her. She will always be part of what makes them whole. Her life will impact this family like no one else’s will. This because of all she has given, even though much was taken away from her.
Joan says that the family is thankful for “every minute of every day” that they have Montanna present with them. The family takes lots of pictures and they even journal about Montanna’s life. You see, there really is something special about these folks.
In regards to their warrior princess and how she views her situation, Joan has this to say, “We see how happy she is every day with what she has. Montanna doesn't question what life has given her, she makes the most of it! She loves going to school, being with friends, going to football games and other school activities. She gets excited when Birthday and Christmas presents are given to her even though she can't see the gift, the wrappings or the people around her. She has taught us what is really important and that is being family. We love her to the moon and back and yes, we do thank God everyday for her in our lives.”
Joan has expressed to me that for them, their faith is what is carrying them through. As she put it, “It is only by our strong faith in God that we have been able to move past this awful diagnosis.” Her comments and actions, along with Jennifer’s remarks, lead me to think that Joan is the matriarch of this family. I bet that the strength that her and her husband Paul receive is transmitted to the everyone else. They are a family! Concerning the dreams that they had for Montanna, Joan had this to say, “we had to face the reality of the loss of all those dreams and face the stark truth that most of them were not to be. But again our faith helped us to realize that sometimes you have to put the old dreams aside and take a look at the new ones before you.”
Whether here or over there, Montana will be beautiful for all of eternity. My hope and prayer would be that she would fight this Batten Disease with everything that she has and that she would be with her family for years to come. I have no doubt that she will do so with the beauty and grace that she now displays. After all, she is a warrior princess of a rare kind. Along with that, we hope and pray for a cure to this and all rare childhood diseases for that matter. Perhaps that is wishful thinking but we can dream and also take action while we do. In the meantime, there will be more Gold Star families along with their heroic children. I will never forget the warriors who have given their lives in the name of freedom. I will also never forget the rare children and young adults who fight or have fought like the warriors that they are. Together, they all have Gold Star status with me!
“I have been helped and I have helped others. I have learned so much, and not just about Austin's condition but so many other conditions I never knew about. It has changed me for good and bad. Good because I don't take the simple things for granted. I also have learned to stand up for what I believe and not to back down or feel threatened even by people who are more professional than I am.”
I am almost positive that I sound like a broken record to some at this point. All the blogging that I am doing is centered around children and young adults with Batten Disease. Yes there are other rare diseases out there that need greater awareness. Awareness is a key factor in bringing about change. Many of the points that are brought up from one blog to the next are repeated for a reason. The details of the journey are moving to me. When I talk to the parents, it is, for them, business as usual. There is a combination of sadness for what lies ahead, and love that can’t be explained through words. Okay, I am a little bit on the sensitive side. A lot of it has to do with being the parent of a special needs person. When it comes to people with special needs, it is the right thing to do as you give them greater attention. As a person does, the bond between the caregiver and that person is increased. As that happens there are sacrifices that are made in the giving of time and attention. Other less important things are left alone and done as time allows. This is true for anyone that cares for someone with special needs. For the parent or guardian of someone with Batten Disease the sacrifices are so much greater. As the disease progresses, so does the need for increased care. It is my hope and prayer that this all changes for the better some day. Good things are happening. However, for the families, the changes are too slow in coming about.
I hadn’t known myself what Batten Disease was, and may have never known, except for a series of events that changed me. Life isn’t just about me so much anymore. Now, it has become my passion to tell the stories of these children's lives. I may write about other things one day, but I don’t see that happening soon. Doing this has become so important to me. It is the details that move me to write. To some, it might seem like an over dramatization. Not to me though. I think that much of why I feel the way I do stems from raising my special needs son, Benjamin. Much of it though, comes simply from knowing the details of what these families go through.
Benjamin is the most wonderful human being. Yes, just like his dad, he can get his grouch on pretty good. By nature though, he has a very sweet disposition. He loves to laugh, just like dad. He loves to be silly, um, just like dad. He loves to smile. He is the only one that is left at home now and so the bond between us has grown extra tight. There are many days when he gets excited when I get home from work. As I write this, I am working out in the field. I always miss Benjamin and my sweet wife when I am gone. When I get home I always walk up behind him as he plays at his desk. I wrap my arms around him and plant one right on his beard. He often times will move his face in the direction of mine as if to say, “give me another dad.” The feelings go both ways! I like to post pictures of Benjamin on Facebook. I like to be his voice. I want people to know who he is. His personality is just wonderful. He is so easy going and he is so happy. Well, most of the time. He is content with the simple things. I try to capture that in the pictures that I post. Although getting a good picture of him is like herding cats at times, I like to try to capture his smile. Benjamin has a great smile and there are several people in our small group of followers that enjoy seeing it! There is someone else I know who loves to smile. His name is Austin. Austin’s smiles.
There are many things that amaze me as I write about these families. They are, by and large, regular people. Their only desire was to have and be a regular family. Sure, there are always problems that come with raising children. Sometimes, they include medical issues that have to be overcome. Every experience in life changes us in some way. Batten Disease is not the only enemy out there when it comes to a child’s health. However, the details of this particular journey grip me. The more time that goes by in these children’s lives, the greater the sacrifices and need for care required on behalf of their caregivers. In many, if not all of these stories, the details of what these children teach people is either told or inferred. I have some observations. These kids teach us things about the indomitable human spirit. Knowing what is required of these families teaches us how to live for others. They also teach us how to keep going even when we feel that we no longer have the strength to do so. Do you feel that you are having a hard day? I know that even my worst day can’t compare to what a Batten warrior or parent may experience at any given time. Often times, these little warriors forge ahead while keeping a smile on their face.
I was prompted by a prominent member of the Batten community to contact Wendy Weaver about including her and her son Austin in this blog. This is their story. Right from the start, I have to tell you how much respect that I have for Wendy. With her help, I will try to capture the impact this entire experience has had on her.
Austin Mitchell Kirk was born on September the 24th in 2001 at Utlaut Hospital, in Greenville Illinois. That was just 13 days after 9/11. Wendy said that Austin’s original due date was supposed to be October the 24th. He decided that he was going to show up early. As Wendy would put it to me, Austin “decided to come on his own terms.” Wendy had found out that she was pregnant with Austin the previous Valentine’s Day. As with is the case with all of the stories in this blog, her life as Austin’s mommy would become a real love story.
Even though Austin made his entrance into this world a month early, he was overall healthy except for some jaundice. He also had some feeding issues. He was brought back to the hospital with jaundice after six days and was experiencing a 95 degree temperature, dehydration, and poor suck reflex. Austin was released after two days and Wendy voiced her concern. The medical staff did not feel that additional care was required from them, however, he was brought to the ER after things went from bad to worse. It was told by the staff that Austin would have died if he had not been seen by a doctor. He would spend a little over a week at Children’s Hospital as a result. What a scare this must have been for this young mother. This, however, was just a precursor for what would lie ahead for Mom and Austin.
Austin was fairly quick at picking up new skills. At five months old he was scoring at the 7th and 8th month level for problem solving. He was using single syllable words, like Ma and Da, at 8 months old. By a year old he would say two and three word sentences. Austin was up and on the move at ten months when he learned to walk. Yes, he was quick to pick things up. Wendy gave an excellent example and puts it to me like this, “My friend was amazed. At a year he would come in the house take his shoes and socks off at the door. He would put his socks in his shoes and put them by the door neatly. She couldn't get her 3 year old to even do that.” Austin even picked out three outfits for his first Birthday. They had all his favorite things. A plane, a train, and a truck. Guy things you know!
By age two, Austin had a baby brother. Wendy told me that on some days Austin liked having a brother, but on other days he would just keep to himself. He had his bad days and by age three would even have these melt downs. At times, he would get bored and would cause trouble for his mom. Austin, though, loved his mom so much. Wendy described a cute little incident that occurred one morning, “One time he tried to make me breakfast at three years of age. I awoke to the sound of eggs dropping. There, Austin was hands on the floor mixing around milk, sugar, and eggs he had dumped together. As I asked what he was doing, he told me “I'm making you breakfast mommy, see.” He did so with a huge smile on his face as he continued to mix it.
Wendy would go on to tell me how advanced Austin was as he developed new skills. She said that he could whistle by age three and snap his fingers at age four. She said that Austin was ambidextrous. At the age of four Austin gave Wendy a scare. This is the way she put it to me, “He decided to go on an adventure in the toy room and dig for earth with a dagger from my collection. To this day I do not know how he got it out and down from the closet.” She would go on to tell me that he had known how to climb since before he was a year old. In fact, “No height was to great as he got older.”
By age four and five Austin had developed a big vocabulary for his age. He could use some large words correctly in full sentences. Wendy said that he loved to play outside at the park. Austin had friends his own age but he also enjoyed talking to adults. He was just a bundle of energy and he was always busy doing something. Why waste a perfectly good day sitting around. Right Austin? There is often something about kids and water, and Austin’s favorite activity was swimming. He was not afraid of the deep end, and drowning never entered his mind. As a matter of fact, Austin knew no fear, and was afraid of nothing. According to Wendy, Austin has “supersonic hearing”, and he could listen and respond to more than one conversation at a time. He always was intrigued by cause and effect. Wendy’s example made me chuckle and so I will quote her here, “Press this button and this makes a noise. Do or say something and mom or dad yell, or come after me cause I know I am doing wrong. I just want to be a spit fire and get them all fired up.”
For the most part, Austin was always so happy and alert. Even when he had gotten pneumonia and RSV illness, he still continued to smile. Austin loved attention from anyone, at anytime. I think that he still does and yes, he has his mommy's full attention. Austin loved life and he still does. Wendy told me, “There was this joy in his face like none other I've seen.” She included the fact that Austin loved his friends and family. He would talk to anyone about anything at anytime. He even loved strangers. He loved people. Something tells me that Austin always had a smile on his face.
He had a love for animals and bugs as well. Wendy said that he really liked Spiders and Caterpillars. Austin knew that his mommy loved Butterflies and Cats. He loved to play with bugs and show them to his mom when playing outside. Wendy remembers receiving a special gift from her special little guy, “He was in kindergarten and he made a butterfly ring out of paper. He had cut it out and colored it. He came home and gave it to me and said look mommy I made you a butterfly, your favorite butterfly. He was so proud and happy to give it to me.”
Wendy would also tell me that in all the great moments Austin has had some bad times as well. She would tell me, “He would be happy then mad in a flash of a moment. He would become the hulk. I use to call him Bam Bam (the Flintstones character). He had that blond hair and was so small and mighty just like Bam Bam.”
You get the idea from all of this that Austin had a bright future ahead of him in spite of a few obstacles. His inquisitive little mind and his ability to pick up new skills quickly. His level of energy tells you that he would be a person that would get things done for you. He was the kind of child that you might mold into an important figure if all that energy was channeled into positive things. Austin was, and still is Wendy’s Mini-me. He is Wendy’s first born son and you can feel the love that exists between them.
I still remember my first born son Daniel and how we felt about him as he played. Everything was with purpose for him. He use to complete these elaborate projects with legos without the aide of instructions. Our thought at the time was that he would be an engineer. In fact, he became an IT professional and he is just brilliant. So proud of him! The possibilities for Austin could be endless. Who knows how many lives would be impacted by Austin’s life if he reached his full potential into adulthood.
When Austin was close to the age of six years old, Wendy started to notice the beginning symptoms of a disease that, at that time, she knew nothing about. Finding the help she needed and getting answers would take her down a difficult road. There were issues with Austin’s health as he was growing up. He appeared to have ADHD near the age of three and OCD a little later. He was seen as having Sensory Intergration Disorder at age four and High Functioning Autism at age five. The medical professionals felt that Austin would grow out of all of these except the Autism. These things were concerns to Wendy but as she would put it to me, “Before he had regression at six years of age, I thought he could overcome everything. I thought that he may need medicine, a strong solid routine, and lot’s or little guidance to stay on track and function like everyone else.”
As already stated, Wendy really became concerned as Austin approached his 6th Birthday. That is when he began to regress with his skills. Austin started developing motion sickness when on swings. He would get headaches and throw up. School started to become an issue. He was no longer keeping up and was forgetting what he had already learned. In general, he was experiencing short term memory loss.
Austin had learned to walk when he was 10 months old. He was climbing some things at one year of age and his climbing skills just improved from there. Remember, he was pretty fearless when it came to heights. By age two he could climb just about anything on the playground at McDonald’s. Now, all of a sudden, things were changing. As Wendy put it, “He was losing his balance from time to time outside on different levels of things. Like the ground, while climbing play equipment, and so on.” Austin had learned how to peddle a bike at age two, and now he couldn’t at age six. Wendy would say, “We even showed him and reminded him. Still no luck, he could not relearn it.”
Wendy detailed all the concerns that she had to me at the time in this way, “At age 6 when he began to forget stuff and was having trouble physically (which I didn't realize was regression). I thought maybe this is something bigger than the doctors say. I worried mostly about MS since he had similar symptoms. He had loved ones from each side of his family with it. But I also worried that it was something simple making this happen, or something that had happened that may have caused (or was causing) it. Also, that if we didn't figure it out he would get worse.What if we didn’t figure it out before it did. If we didn't, and it was, for example a brain tumor, Pikes, or medicine he was on for asthma attacks he had. Maybe he just needed to get it checked before it became much worse. I worried it was something simple.”
Wendy, of course, would continue to seek the help of the medical community in figuring things out. In all the stories that I have done so far, there have been varying degrees of difficulty in finding a diagnoses. In my blog titled Little John and The Reason, Battens was suspected because it had already existed in the extended families. The diagnoses, though, often comes after an extensive search coupled with a lot of frustration on the part of the parents. Regardless, once revealed it brings with it shock and devastation. There is no cure to date and the disease is fatal. Wendy’s search would take her through many difficult days.
She told me that the medical team was “a mess”. The first few people said that Austin was immature for his age and that he would probably grow out of it. They thought that he was just ADHD and had OCD. They felt that he would just grow out of things if Wendy kept him in a routine and rewarded good behavior. Wendy stated that the primary care doctor had never seen anything like what Austin was doing, and he actually had no idea where to refer them to next. He would, however, write referrals to anyone that she chose to take Austin to. Really? Wendy chose to take Austin to a behavioral doctor and a geneticist. The behavior doctor is the one that felt Austin had High Functioning Autism and he prescribed a medication for ADHD to calm Austin down. This took place at age five. Wendy felt that the medication was possibly causing some of the symptoms, and she had a lack of confidence in this doctor. She felt that it was not autism that they were dealing with, and she wanted her son off of the medication. Wendy felt that kids with autism do not forget how to do things as simple as peddling a bicycle. As Wendy questioned him, the doctor pointed to all the degrees and certificates on his office wall and told her how highly educated he was. Apparently, he had missed a few days at medical school. Sorry! He went on to tell her that any parent would be happy to have his help and that he was trying to make her life easier. In her reply Wendy stated that she was not there to make her life easier, she was there because she wanted him to help her son and to figure out why he was changing. She wanted him off of the medication. The entire thing escalated into an argument and in the end Wendy no longer required his services. She felt that “in her book, he is not a real doctor!”
Wendy ended up consulting with her biology teacher. She asked, “If your child was doing these things what would you do, where would you go?” Her teacher gave her several words to look up that were related to genetic disorders. Wendy still had not ruled out Multiple Sclerosis. She brought all her findings and questions with her as she consulted with the Geneticist who ran chromosomal tests on Austin. They also discussed what Wendy had found on the internet during her own research. Wendy pointed out the changes to the appearance of Austin’s face. The pupils in his eyes were enlarged. She stated that he seemed to be absent at times when she was talking to Austin. As Wendy told me, “I said sometimes it's like he isn't even in there while I am talking to him or he is doing things. I explained I thought the medicine he had been on did it but he had been off it for 6 months and was getting worse.” Wendy said that the genetic tests all came back negative and she was advised to seek the help of a pediatric neurologist.
The trip to see the first neurologist took an hour and a half of driving. One way. It is easy to see how Wendy’s frustration would continue to intensify. I will let Wendy describe the appointment, “We went back to his office room. Not even an exam room. He asked why we were here and then cut me off and proceeded to watch Austin walk down and back in the hallway. He opened up Austin's chart and told me to look. He said, “see his chromosomes are fine. He is autistic. He walked down the hallway just fine. I don't see anything wrong. He is autistic (the doctor said), what do you want me to do about that I can't grow a brain. I have no further need to see him unless you feel you need to bring him back.” I told him he wasn't just autistic. That I felt something else was going on, and his attitude basically was trying to tell me I was in denial and needed to except that he was autistic.”
Wendy would return to Austin’s primary physician in tears as soon as an appointment was available. She was nowhere near satisfied with the way things were going so she started looking for a second opinion. By this time, Austin was closing in on his seventh Birthday. She finally got Austin into a second pediatric neurologists but had to travel an hour each way to get to and from the appointment. It turned out to be worth the trip because Wendy really liked this doctor. His name was Dr. Geller. He listened to her and watched Austin. He also felt that Austin had Autism but he was much more helpful. He stated that four out of five children with Autism have seizures. That would explain the memory loss, the balance issues, and the motion sickness. He wanted an EEG done. He also wanted to put Austin on seizure meds if his suspicions were correct. He felt that if this was the case that it would help Austin get back on track. I am sure that this must have left Wendy feeling guardedly optimistic.
Six months past and there was no improvement. This prompted Doctor Geller to ordered an MRI for Austin. The results would begin to reveal the true cause of Austin’s problems. Austin had an MRI performed on him at age five. It had come back clean. The second MRI, performed at this stage, revealed changes in Austin’s brain. It showed gray matter on his cerebellum and in the back as well. The doctor said that the changes were not seizure related. He ordered more blood tests, one being for Batten Disease. Wendy said that, at the time, he suspected Juvenile Batten Disease but he was stumped because Austin’s vision was good overall. The ophthalmologist would concur, stating that Austin just had a slight Stigmatism in both eyes. He felt that Austin would grow out of it.
I can only imagine the amount of concern that Wendy had at this point. In fact this brave but heartbroken momma would put things this way, “Dr. Geller was stumped since Austin didn't have signs of Battens in his eyes and then his blood test was negative for it (Battens) as well. He said he may not find the exact diagnosis but he would find the category it fell under. And, he would not stop looking for an answer. But at that moment he said “I also can't promise I can cure or treat what ever this may be.” I was worried, my once energetic, smart, own little personality son was now changing and nobody knew why. The damage on his brain was Permanent and it might not ever be known why it happened in the first place. I worried so much.”
Within a short time a phone call would come. Wendy would be told that the results of the test for Batten Disease may be a false negative. The medical team wanted to a have skin and muscle biopsy done to which Wendy gave her consent. There were other tests run on Prince Austin as well. He has a 23 hour EEG performed to see exactly how many seizures were taking place. Wendy spoke of the results in this way, “The EEG showed he was having several and they lasted for no more than a minute. He was basically in and out of his mind all day long.”
Wendy said that it was around Austin’s 8th Birthday that all the results from the testing came in. She and Austin went to the appointment and the news would leave Wendy devastated. “We went to the appointment and found out he had Batten Disease. We had no idea why he wasn't going blind. It was so hard to take that news. No cure. No treatment. Me as a mother could not stop what was about to happen. A slow regression. They even said he had from 8 to 12 years of age to live, and he was 8 at that moment. I said you can't do this to me, just tell me and then me lose him. Then they said my other kids could have it. I had Richard just 2 years after Austin. He was 6. I thought no you can’t give me bad news for both my kids in one day.”
Ausin’s younger brother Richard lacked all of the symptoms for the disease, and Wendy opted to not have him tested at that time. He was, however, tested for being a carrier at age nine. Richard was given the all clear! Austin was later tested to find the exact variant of Batten Disease that he had. It was found that he has Late Infantile Finnish form.”
The journey which had begun as a mystery would continue as Austin continued to Battle Battens. What a warrior he has been. Even though he is afflicted, he continues to love life. Every chance that he gets, Austin smiles. Wendy shares some precious details with us, “As he became weaker he tried so hard to still get up, to still talk, to still play with his toys but now a days he can't, but he can smile and listen to the TV or his music. He likes to be read to and for his cousin to sing to him. He likes sponge Bob and Shrek, and he still lights up when he’s watching them. He likes to hear videos of himself talking and playing. He really lights up when he hears the video with him and Eric Petersen who played SHREK in the SHREK musical.”
So much like a lot of other parents that are placed in Wendy’s position she became an instant advocate for children with Batten Disease. She is known in Batten circles as someone who is very knowledgeable on the subject. Wendy has done her research and has learned much. She is connected to people in the United States, and in other parts of the world, who have children with the same variant of Battens. She found that while this variant is very rare here in the U.S., it is much more common in Finland. Like families with children who have other variants of Battens, they communicate constantly with one another through social media. They share information about what has transpired and when. Other subjects discussed are what to expect and what medications their children are on. Wendy stated that there was not that much information over the internet, and so the interaction with these other families is extremely valuable. Wendy receives a lot of support from these other families, however, she is a big support to many others. Wendy put it this way so perfectly, “I am working through my passion every day even if it is not for money and not in person. I have always been a person who wants to help however I can, and now I do that the best I can. Even if just by being a listening ear or a shoulder to cry on.” Wendy, even though I am not a part of the Batten community, I can somehow relate to the passion that you have for what you do!
I can’t completely put into words the amount of respect that I have for a parent that has dealt with Batten Disease. Wendy has shared with me in detail the impact that this all has had on her personally. Her feelings have ranged from sadness to anger. She has battled anxiety and depression. She is a mom and has felt powerless to protect her son from this monster. Denial as to the diseases power was something that was a issue for her. She put it to me like this, “I thought he will prove them wrong as he is a strong boy. But as he started to lose abilities I was crushed. I knew it was going to win and I had no control.”
Wendy has dealt with her own health issues but she has let them go in order to give Austin everything that he needs to make it through each day. Seclusion and isolation are part of the sacrifices. The doubters have always been quick to give Wendy what they thought was the sober truth about Austin’s longevity. Austin, however, has continued to battle and has proven them all wrong. He is, to date, the longest living young person with the particular variant that he battles. You go Austin!!
As a matter of fact I am posting this blog on the weekend that includes Austin’s Birthday. That is September the 24th! Not just any Birthday, although for him they are all special. On this Sunday, he turns 16 years old. How sweet is that? Austin that is something to smile about. I wish I was there to give you a big man hug but posting your story will have to do!
Austin is a warrior of a rare kind. In addition to Batten Disease, he has battled through other health issues which include Crohn's Colitis. Pneumonia is an ongoing issue.
As for Wendy, she is a warrior of a mom who has given up much for one special guy named Austin. In her words, “In my own head I have given up a lot. I have had trouble knowing who I am or what I want because I don't have time to even worry about those things. But I also have met some great people” In the end she is simply driven by love, plain and simple. In Wendy’s words, “The connection with Austin. He was always like a mini-me. He acted and looked so much like me growing up. Even if he didn't tell me how he has felt, he lets me know in other ways. The bond we have is so strong. He loves me and I love him.”
There is no doubt in my mind that Batten kids have a profound impact on their families. They also have a huge impact on the people who follow their journeys. People like me! Yes, the journey is filled with heartbreak but they also provide a ton of sweet memories that can never be taken away. Some things in life are difficult to see as having a silver lining. These precious human beings change us and I know that Wendy can testify to that fact. She will never be the same and a lot of people will continue to benefit from who she has become. My hope and prayer would be that Austin continues to surprise people as he battles on. I so enjoy watching the videos that his mom will post of him on occasion. It is so easy to see the joy that exists inside of Austin as his smile continues to beam in the midst of the most difficult of circumstances. He is a prince and a true warrior. A very huggable one! Whether here or one day over yonder, his presence will always be felt by those that love him. I so appreciate Wendy’s help with her’s and Austin’s story.
Did I mention that it is Austin’s 16th Birthday? I did, but it is worth mentioning again. Happy Birthday Austin! That is something to smile about!!!
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. Let it happen!
I would like to welcome to my blog Sanfilippo families, as well as, families in other MPS communities. I am grateful for every opportunity to write about those who battle an MPS disorder. This, of course, alongside their special children. This is a labor of love that is extended to each one of you! Scroll down to see MPS family titles.
Highlighting a previous blog that might interest you:
Forever Royal - The Final Version
One child in a family with a rare disease is a challenge. What if there is two? Heartbreak multiplied you pick up the cause and do your very best to make a difference. That is how a normal family becomes Forever Royal ...
Take the titles listed below and go to month and year listed in the archives.
January 2017 -
*The Story Between The Lines
February 2017 -
*I Know Just Where You Are
*My Kind Of Royalty
March 2017 -
*The Caring Type
*Face to face: A Fairy-tale
April 2017 -
*No Ordinary Love
*A Rare Friendship
May 2017 -
*Tyrell and The Rare Love Story
June 2017 -
*Seth and The Healing
July 2017 -
*Little John and The Reason
*Sands and The Scottish Princess
August 2017 -
*A Rare Kind of Devotion
*The Giggle Box
September 2017 -
*Sweet Montanna and The Status
October 2017 -
*The Blog About My Blog
November 2017 -
*Lydia, I Love You!
*Kayden And The Change In Plans
December 2017 -
*Those That Are Like Them
January 2018 -
*Nora Skye - I Know Just Where You Are
*Brock and The Priceless Memories
*Jamesy Boy and The Treatment
*The Priceless Princess From Beyond
*Forever Royal - Part One
*Forever Royal - Part Two
*That Kind of Love - Conner's Story
*What I See (She is a Butterfly)
*No Longer Alone - Kristiina's Story
*Things We've Talked About - Oscar's Story
*The Reason Why - Hannah's Story
*Kayla's Perfect Princess - Breanna's Story
*Where Do I Go From Here? - An information only blog
*Warriors Unaware - Mia and Kaleb
*Her Little Story
*Someone Like Raelynn
*Forever Royal - The Final Version
*Awfully Beautiful - The Life of Noah and Laine
*A Lifetime of Love - Tegen's Destiny
*Forever Beautiful - Gabi's Story
*The Miracle Baby - Amelia's Story
*Dylan's Life - A Small Town Story
*Princess Grace and the Challenges
*Anything for Tessa - Her Story
*Haley Bug's Battle - A Family Story
Sanfilippo Syndrome and other MPS family titles -
*The Beautiful Light of Haidyn Grace
*Any Distance Traveled - Reagan's Story
*The Missing Someone - Kiernan's Story
Archives - Use title listed above with the applicable month and year.
Highlights from the beginning of 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