“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!!!
Highlighting a previous blog that might interest you:
Journey Unexpected - The Rich Family
One child in a family with a rare disease is a challenge. What if there is two? Heartbreak multiplied you pick up the pieces and will yourself to do your very best. A love that is profound and a bond that is stronger than any other is formed. Two little beauties in one family is two, too many but you seek to make a difference! A journey unexpected...