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Austin's Story

Austin

We didn't find out about Austin's Syndrome until he was born. I think some of our new CLOVES friends are being diagnosed in utero. For us I think both technology and the size/nature of his anomalies prevented it. I was 18 when I found out I was pregnant with Austin and my life had completely changed directions on me but I was still very excited. My pregnancy was...well no other way to say it but...awful. Just awful. I had "morning" sickness ALL day for the first 6-7 months. I developed toxemia about the 7 month, I was gaining massive amounts of water weight and my blood pressure was steadily rising. I was placed on bed rest, an extreme low sodium diet and was in and out of the hospital 9 times before I actually delivered for everything from the blood pressure concerns to early labor contractions to an allergic reaction from medication to stop the early labor pains. Still we had no idea that there were any concerns for Austin. The doctors were mostly concerned for me with the toxemia. My BP was dangerously high and that can lead to seizures. This eventually lead to me being induced, leaving immediately from a routine check-up straight to the hospital about 2-1/2 weeks early (still considered full term). I was placed on magnesium sulfate to prevent me from having seizures. At 10:07 pm on June 15 after 24 hours of labor (no epidural, sick from the all the meds, a migraine the size of Texas) Austin Tyler made his way into the World. My doctor was very calm. So calm. He quietly said "mom we're noticing some things we need to look at before we hand him to you". Those words, words I'll never forget changed me. It was the first time I felt that "fear"...the feeling that something is wrong with my child. As a new mom, especially a very young new mom, you worry... "will I know how to protect him"..."will I love him enough"..."love him the right way"..."will I be good at this"...so many "will I's"...And then the doctor says there may be some complications with your son. All of those "will I's" disappear and you immediately want to grab him hold him and you would fight the most dangerous of situations to keep him safe. But then the next words come..."we don't know what this is or what it means for him". Then instead of "will I's" I now have all these "will he's". The only one that mattered "will he be okay"... at the time they didn't know. 

At first glance you could tell that his body wasn't symmetrical and there were deep purple port wine stains covering his body. His vitals were all pretty stable; lungs seemed to be fully mature/functional. Then his oxygen levels began to drop while eating so they decided to go ahead and transfer by ambulance to St. Louis Children's Hospital to address that concern as well as to run tests to figure out what condition he had. He was transferred very early the morning after he was born and they were able to wake me just long enough to hold him briefly (for only the 2nd time). Not long after they woke me and said they would release me early so that I could go be with him. 15 hours after I delivered him I left to go downtown. They ran a series of tests: Blood work, CT, MRI. The original diagnosis came back as Sturge Weber Syndrome (SWS) but within a year or so they changed it to Klippel-Trenaunay Syndrome (KTS). With either diagnosis we were told that it was the "best fit" for his anomalies/symptoms. There wasn't a one test that could give us definitive answers. CLOVES Syndrome wouldn't be discovered for 9 years or so. Austin is followed by Dermatology, Neurology, Orthopedic and Plastics on a regular basis. On a semi-regular basis he visits what's called a Cranio-Facial Clinic. This appointment is unique in that we can see many different specialists at one very long visit. ENT, Neurosurgery, Pediatric Oral Surgeon, Ophthalmology, Plastics just to name a few. At a dermatology follow up we were told about CLOVES. A fellow working for Austin's dermatologist was aware of CLOVES and asked that we come in to see them. They explained that it was just recently discovered and that genetic testing was available through the research lab at Boston's Children's Hospital. They would take a biopsy at an upcoming orthopedic surgery and send it off along with all of his records, old labs, notes, scans etc. to Boston. January 15th 2014 we received word that they detected the mutation of PIK3CA in his cells, that along with the entire group of documents confirmed that he did indeed have CLOVES Syndrome. It took 13-1/2 years to get an accurate diagnosis. CLOVES was originally characterized by Boston Children's Hospital Dr. Ahmed Alomari and then later a team lead by Dr. Matthew Warman and Dr. Kyle Kurek discovered the gene mutation on PIK3CA. Dr. Warman's lab at Boston Children's continues to do research on the gene sequencing as well as researching possible therapies to stop, slow or reverse the mutation. To say we are grateful for those doctors involved is a vast understatement. They determined that it was a sporadic non-hereditary mutation. The same mutation is also found in cancer cells. This doesn't mean it will cause cancer however if CLOVES affected individuals developed cancer it could be very aggressive because they are already predisposed to the mutation. Mutations on the same gene has been linked to KTS and SWS. What makes them separate and different is when the gene mutation happens in embryonic development. Patients with CLOVES had the mutation happen early in development thus the affected areas are all over the body as the whole body is still developing. Whereas the KTS/SWS patients may only have affected limbs or their face meaning the body was all developed but the portions that were affected when the mutation happened. We were told the mutation for CLOVES happens roughly one-in-40 MILLION. There are currently ONLY 150-200 people diagnosed in the world. 

While many CLOVES patients share similar symptoms/anomalies - everyone is unique. For Austin: One half of his body is bigger than the other. The right side of his head is bigger than the left and then at the neck it crosses and the left side is bigger than the right. Right down the center of his body. His brain, mouth, tongue, kidneys, legs and chest...everything on opposite sides of his body are different in size. The opposite sides have always grown at the same rate. Many struggle with affected portions continually growing larger. Austin's asymmetry has always been the same. He is covered in port wine stains which are both on the outside and inside of his body. At birth they were a very deep red/purple color. He had several laser treatments when he was a baby to lighten the ones that were prominent on his head/hands/legs (visible marks). As he's grown older they have also lightened quite a bit as his skin grows. His body is roughly 80 % covered in the marks. His left leg is almost a complete birthmark. The differences in his brain along with the birthmarks that are on his brain cause developmental delays and seizures. As a toddler he required speech therapy to learn to speak with his tongue being asymmetrical the sounds wouldn't come out as they would with you or I. He has both enlarged vessels and prominent veins. He doesn't have the AVM's but the enlarged vessels as well as the birthmarks make him very high risk for hemorrhaging during surgery or any major injury. Even placing an airway during surgery can be dangerous. He was also diagnosed with a Chiari Malformation which is when the cerebellum and parts of the brain stem sit in an indented space at the base of the skull near the opening of the spinal canal. This can cause major problems depending on the severity of the defect. Austin saw Neurosurgeon years ago and we didn't proceed with corrective surgery because his level of defect was more towards the mild side and hasn't caused him any problems. His body is full of extra fatty fluids and not enough muscle mass. Making it hard to walk or stand for long distances. Running...hasn't happened since he was very young and even then it was very short amounts. 

There is NO cure for CLOVES. Currently the only drug available to treat CLOVES is called Sirolimus it is an mTOR inhibitor meaning it can slow growth. It is used to treat those with a large amount of lymphatic/lipomatous involvement. It is part of a clinical trial for complex vascular anomalies, CLOVES being just one of syndromes treated in the trial. This drug is now being prescribed by some doctors off label and off trial. Austin doesn't have the continually growing lipomas so he hasn't been treated with that drug. Otherwise doctors can only treat the symptoms/issues as they arise. Seizure meds are common. Debulking surgeries to keep the growing lipomas or vascular anomalies are necessary to keep them from overtaking the body. Thankfully Austin has never needed this as it is a very painful procedure and the recovery is very hard. Many orthopedic surgeries are required. 

Austin's had 14 surgeries so far all but 1 at St. Louis Children's Hospital I CANNOT praise this place enough we love them. Not including the laser treatments to lighten the birthmarks or the number of scans/tests needed. Those alone were traumatic as a child. Any CT/MRI would require sedation which required an IV and the drugs necessary to make that happen. Austin is filled with extra blood vessels but is the HARDEST stick when it comes to an IV. It was to the point that for surgery they would give him gas to initially sedate him and place the IV in the OR so that we didn't have to stick him time and time again. The gas used for sedation will "awaken the veins" making it easier to place the IV. Now days they have a fancy IV ultrasound that works wonders finding the perfect IV spot. The majority of his surgeries were Orthopedic. Muscle mass in the legs is vital for keeping them together and he has very little. Because of this the ligaments and tendons were very lax in his knees and the kneecaps would just shift all over. Both knee caps were operated on to hold them in place. In addition his legs weren't growing straight for the same reasons...doctor use growth plates to help correct this. If the knees are knocking his surgeon would put the plates in the bone on the inside of his legs to push the legs out. Once they are straight they have to take the plates out so the opposite problem doesn't occur (bowlegged). As Austin grew the legs were constantly changing. Plates in Plates Out...Repeat. He's had his hamstring loosened because 10-12 surgeries on your legs alone can stress them out and it was so tight he couldn't straighten his leg. He's had liposuction on left leg (bigger one) to help remove what mom has dubbed "the ick". Trust me I've seen pictures. Ick is the PG term. This wasn't cosmetic by any means. We pulled 8 lbs or so out of that leg alone trying to reduce dead weight that he lugs around. By far the hardest surgery on both Austin and myself was his hip surgery. His left hip socket stopped forming so the femur bone would pop out of his hip socket as he walked. The plan was to repair the socket. Whilst in there he would go ahead and shave down his femur bone so that his leg lengths were more even. With the knee surgeries tourniquets were in place to reduce bleeding. We knew that this surgery wouldn't allow for that so we had blood on standby. They were able to begin the hip socket repair but when they made the incision to work on the femur bone he hemorrhaged and they had to abandon the rest of the surgery. His surgeon was able to screw the femur into the hip socket to keep it in place. Austin required a blood transfusion for that surgery. We spent 5 days in the hospital that time. 

That surgery. Was Hell. It was also the ONLY time Austin has ever complained of being in pain after surgery. And it was one time. He was weak, pale, vomiting and disoriented and said "mom it hurts" and that was all it said about it. He is the strongest person I know. He never whines. He never complains. The only fits he's ever thrown were after multiple IV attempts. Well who wouldn't... I don't know where he gets this amazing amount of strength from but it really is a sight to see. Once after being told he was having another surgery he shrugged his shoulders and said "what's new". 

All of this and yet we still consider ourselves very lucky. There are many other CLOVES friends that have awful surgery stories. Many more in numbers than us and much more serious. Since Austin's diagnosis we've also had two CLOVES kiddos gain their angel wings. 

Austin can manage his daily personal care himself. He requires lots of reminders about what needs to be done and post-surgery requires even more assistance. Understanding why he needs things like showers/deodorant/brushing teeth aren't really imbedded in his comprehension. He can be very forgetful about what's he's done or already done. Telling him to take a shower he may say "but I just took one yesterday". Dude your 15, it turns out you need a shower every day :-). His brain anomaly can be blamed for most of this. Being a teenage boy takes care of the rest. 

At school as well as other short distances he can walk unassisted. Sometimes it's painful for me watching him walk, it's very uneven and sort of bumble-ly (yeah I totally made that word up). Any sort of long distance (mall, zoo, school field trip) he would need a walker or wheel chair. Long amounts of walking make the legs and feet swell. A long day can result in a day or two with his feet up trying to reduce the fluids. He is in full Special Ed classes with the exception of his electives. Adaptive PE is given for those who need it and Austin has just finally been able to participate the last two years since his surgeries have been mostly liposuction and he's able to get on his feet after those. Until then with all the surgeries being orthopedic he would go back to school non weight baring and therefore stuck in a wheelchair for a while. PE has been a huge help building leg strength, he'll typically just walk a few laps on the track and then play for a few minutes in a group game with other adaptive PE kids. 

Comprehension is his biggest struggle in school and well life in general. Understanding things as basic as time frames - that a certain event happened last month not last week etc. This basic thought process causes problems with all vocabulary and has quite the ripple effect for his learning capabilities. Austin tests in the below average to low range for IQ. At 15 he is reading on a 3-4th grade level. During the 5th grade school year I had to battle a particular teacher about homework etc. The principal at his school (who was FABULOUS) suggested some additional testing for Austin. We went to Children's hospital for a full day of tests geared to determine what Austin's capabilities were. This was the turning point for us. Their report was able to show the school that Austin's delays were not just "misunderstanding the vocabulary" that they went much deeper than that. And were not going to change. This unleashed a plethora of options available. He can now receive shortened tests, note taking help, the tests can be given verbally if he needs it, basic math keys can be used during tests and many more changes if needed. We sat down with his team of teachers/caseworker/principal after the testing and I was very resolved. My words were simple. "LIFE SKILLS". Do not make my son come home with homework about the different types of rocks on Planet Earth (I fought that teacher the week prior on this assignment after Austin cried in frustration) when he doesn't understand that his doctor’s appointment was last week. At the time everything he did happened "yesterday". Yesterday at Christmas... Yesterday when we went to the zoo remember we saw monkeys? Anything he did, it happened yesterday. Clearly we need to reprioritize. I want my son to be able to live independently one day, get job, make a meal, shower without my reminders and those things aren't easy for him to learn. So please don't teach him about rocks. He hates rocks. Finally everyone agreed. One teacher breathed a sigh of relief (I assumed she thought I was "that" crazy mom) and she said I'm so happy to hear this. So many parents want their kids to be "normal". Sit in the "normal" class. Be with the "normal" kids. I said A) and B) and well C) too "I hate the word normal". I don't want you to give my son a pass. This isn't giving up on him. I want you to push him. Help him achieve the very best. But the very best for him. Not for the guy or gal next to him. We are crushing him right now. He's constantly failing and doesn't know why. School became fun. It became was all about life skills and he THRIVED. Honor roll student. 

Austin has a heart of gold. An old soul who loves helping others. Per one of his teachers this year "He's a joy in class to everyone around, both students and adults"... He will help the kids who need more than he does. He always wears a smile on his face. Even when he has a bad day he has it with a smile on. His laughter is infectious. He's never met a stranger. Man, woman, child, adult, special ed or not he is your friend and you are his. I've never ever heard him utter a hateful word about anyone. And by God that child has so many reasons to want to...he has many limitations. He doesn't like amusement park rides, being on a boat or anything that makes him off balance. I think that his brain anomaly affects his equilibrium and as a toddler we took him on a pontoon boat. He laid on the floor of the boat and cried until we could get him off of it. I realized it was making him dizzy to be rocking on the boat. No 3D movies (he had a seizure watching one). Sports are out. Although I think one of our silver linings is that he could care less about sports. His younger brother Zack plays football, select baseball, speed and agility training, basketball, wrestling - you name it he plays it. He is a natural athlete. I always worried that Austin would feel left out. But I didn't want to keep Zack from doing what he loved and what he was so clearly made for. Austin would come to the games and laugh and play with the younger siblings. He would sweet talk funnel cakes at the concession stand from all the parents. But hell if he could tell you who won the game. His love is for cars. From the time he could hold a toy he had a hotwheel car in his hand. He would collect every car he could. Old cars, new cars...cars all over the place. Even when it comes to TV/Movies...the only ones he wants to watch will have some sort of fast moving vehicle in it. Fast and Furious all day...

One of the biggest struggles throughout the years...that may seem trivial but we take for granted...Shoes. We cannot now nor will we ever find shoes to fit his feet. This is a HUGE problem for many CLOVES patients. Their feet are so wide and thick that shoes will not fit. Sandals during the summer? Nope. Flip Flops? Nope. Dress shoes? HA! Tennis shoes? Nope. Slippers? Nada. Crocks? Not so much. Around 10 years old he was in a 17 men’s wide. And that was a struggle shoving the shoe on his bigger foot. Eventually his heel would just sit on the back of the shoe. Shriners Hospital St. Louis eventually made a brace that was attached to a handmade leather shoe. After a few years that stopped fitting. He now wears an orthopedic boot on his left foot. Like you would see on someone with a broken or sprained ankle. The right foot will just barely squeeze in the biggest shoe found in stores. I wish I would have grown up wanting to be a shoe designer for a living. Someone out there needs to be the leader in fun shoes for odd sizes.

Austin is your typical almost 16 year old guy. Attached to his Xbox. Excited for the day he can drive. I know he will get there one day. His life is always several steps behind. Crawling, walking, talking, potty training, reading, writing, driving, moving out, getting a job...every mile stone in life he has or will achieve he just doesn’t get to them when most others do. We do not stress push or worry about the timeline. 

The boys’ dad and I separated many years ago when they were 5 and 3 roughly but we have remained friends throughout the years for them. We even travel to out of town baseball tournaments together. New people who meet us are shocked at how “adult” we behave around them. We knew that it would be even more important to do this because of Austin’s condition. There are too many decisions that need to be made as a team for that not to happen. One of the biggest decisions we made early on was that we wouldn’t make his syndrome a large focus in our lives. In fact it was many years before he really even knew he had a specific disease. We would discuss what was happening and why for each test/surgery and answer any questions he had and then move on. We taught him how to answer questions that people would ask. My biggest concern was that he would become “This is Austin, he is special needs” or “This is Austin he has KTS/CLOVES” "This is Austin, he is handicapped". That would be my personal tip to any parent of a special needs child. Try as hard as you can to NOT make them a special needs child. We’ve also been really lucky that he’s gone to school with mostly the same group of kids since Kindergarten. Everyone knows who Austin is there aren’t many questions anymore about why he looks different. Bullying has never been a factor like I feared it would. One occasion on a playground after his brothers football practice a girl called him broken legs. Zack, finished with practice happened to be there when this happened. I should state that this girl was picking on everyone – she used Austin’s brace as her ammunition on him. Zack began yelling at the girl and the last thing I heard him say before coming to get me was “you are lucky you’re a girl”. Zack is his big brothers protector. His friend. His helper with homework. His champion after surgery. I’ve always preached tolerance to my boys. Not just because of Austin’s differences but because I want my children to grow to be respected, kind and humble human beings. What I found was that characteristic I hoped so strongly for came naturally having a special needs brother. Zack has always stuck up for those who couldn’t. He won the Non Bully Award in 4th grade. He once told me that the only thing in life we would judge is a curve ball. Ha! In 5th grade he received special recognition because without ever being asked he began staying behind after recess to help his teacher pick up the equipment before heading to lunch, so that she wasn't picking it up herself. Sometimes he would even miss the first few minutes of lunch to help. Others soon followed his lead and stayed behind to help... He is a leader… 

Social Media with all of it’s flaws has been a blessing for our rare disease families. When Austin was born doctors at Children’s Hospital didn’t have any other patients like him. We had no one to ask questions. Not even the doctors knew how to answer us. Nor did they have hardly any information to give us since we weren’t even certain about what Austin had. I cannot put into words what that feels like. Once CLOVES was confirmed for Austin we were given a couple of contacts who directed us to clovessyndrome.org and the facebook page. In addition we have a secret group facebook page for immediate family members of those affected. On this page we share photos, symptoms, surgical history, and complications. We voice concerns, thoughts or ideas about what our loved ones are going through. At times we have to teach the doctors. Many common things happen to all children have to be handled different for our children because of their anomalies. Or what seems like one problem is completely different for our kids. But they won’t know that because odds are they’ve never treated a CLOVES kid before. We are advocates for our kids but we are also advocates for all of our rare disease friends. A particular mom who is in charge of one of the foundations was the first person I spoke to about CLOVES. She is our “go-to” for any new information or questions. She rallies for our kids. She heads up our conference. She consoles. This woman ROCKS. This type of open communication between our families provides hope. It provides comfort. It heals...

The CLOVES Conference happens every other year at Boston Children’s Hospital. We attended two years ago just months after Austin’s diagnosis. This conference was an amazing experience. We had many friends that rallied to raise money to get Austin there and made it the weekend of a lifetime. Not only the conference but as much of Boston that we could see in one weekend. Dr. Matthew Warman walked us through the genetics of CLOVES Syndrome. during this conference. Another of my lifelong fears had washed away with his words. There was nothing I could have done to prevent this. I did nothing during my pregnancy to cause this life for my son. It was genetic. It was random. It was luck. One in 40 million…

When you have such a small group of people affected in the world it is really hard to raise money for research. At the conference I learned just how expensive it is for just one research assistant - let alone the costs of the labs, doctors, equipment needed etc. We’re also trying to raise money to help pay for the cost of care for those who cannot afford it. Right or wrong Cancer Groups typically get the most attention and we need those groups…we need to kick the crap out of cancer too!! Cancer is everywhere...even in CLOVES patients. There is a specific type of kidney cancer that they are higher risk for and that some have had. So I want all the cancer fighting groups to get the attention and money they deserve and need. But it is very hard to get the attention of others to raise funds for such a rare disease…a syndrome that has less than 200 using its name.

My greatest memory from this conference was one I thought would never happen. It was our first day in Boston. We had a Vascular Anomalies Clinic appointment to see their team while we were there. While waiting another CLOVES family walked in. The little boy was just a baby and had very similar features to Austin, including the asymmetry of his face. I watched as Austin noticed the little guy. He looked at me and said “mom that boy looks like me”. Words I thought I’d never hear that I’ll treasure forever…

There are less than 200 people in the World with CLOVES Syndrome. One in 40 Million has the genetic mutation like my son Austin has. BUT one in 10 suffers from some form of a rare disease. This was why Rare Disease Day was established. Together we are small...united we can be heard. Awareness is crucial for research, treatments, funding and even finding doctors that know how to treat it. To help those who suffer from a rare disease to just simply live...

Austin Tyler Godar is my rare gem. Not because he has CLOVES Syndrome but because he is the kindest soul I know. And he is my son...

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