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Located: United States
Arnold Chiari malformation, Autism, Cognitive disabilities, Kypho-scoliosis, Mild hydrocephalus, Orthopedic issues, Overgrowth

Aevary, now 16 years old, was born after a normal pregnancy and straightforward delivery. She weighed 9 lbs 14 oz, measured 23 ½ inches long, and had a head circumference of 13 inches. We noticed that her feet were turned in so that the soles were touching. Our pediatrician at the time ascribed the condition to Aevary being so large and crowded in the womb. She was beautiful, with lots of jet black hair. She had several “stork bites” on her body—between her eyes, on the top of her head, the back of her neck, and the base of her spine. All have since faded. She was mildly jaundiced and had an umbilical hernia, neither requiring medical intervention. She was generally a happy baby…unless she was on the floor practicing her tummy time. Then, she had difficulty lifting her head, seemed very uncomfortable, and would cry and cry. Gross motor milestones like rolling, sitting, crawling, standing, and walking were all significantly delayed and hard-earned. She required foot orthotics (AFOs) and a pediatric walker when learning to walk. She grew very quickly and routinely exceeded the growth charts for babies her age.

Aevary is our second child. From the very start, my instincts told me something was different. The pediatrician I mentioned above thought I was paranoid, but eventually ordered imaging of Aevary’s brain after a spike in head circumference and delayed motor skills. She had mild hydrocephalus and aqueductal stenosis but not serious enough to require a shunt. She also struggled with eating (choking, gagging, refusing solids, etc.), had frequent urinary tract infections, and little colds would develop into severe upper respiratory infections or croup. As a toddler, she had a couple of episodes where she lost consciousness and appeared to have a seizure after bumping her head. These were typical, mild bumps of the head that occur in the toddler years that wouldn’t have caused an issue with my older son.

As the months and years progressed, our lives shifted to include a seemingly endless series of specialist appointments with neurologists, neurosurgeons, physiatrists, psychologists, orthotists, orthopedists, ear, nose, and throat doctors, audiologists, geneticists, endocrinologists, nephrologists, cardiologists, pediatric ophthalmologists, etc. I will never forget one appointment in particular. We were told by a neurologist that Aevary might have a form of leukodystrophy, which would kill her within two years, or she could just have some delays and eventually catch up, there was no way to tell. What an awful thing to say to a family! It was an excruciating and torturous time, filled with anxiety and a constant gnawing desire to figure out what was going on with our daughter and what could be done about it, if anything. Through it all, we learned important lessons about being strong advocates for ourselves and our children, the need for perseverance, and the critically important—if serendipitous—act of finding the right doctors. Dr. Joseph Malak was our first such find. He is an incredibly knowledgeable, empathic team player, and, perhaps most thankfully, a good listener. Dr. Malak is now a valuable member of The TBRS Community Medical Advisory Board. This journey would have been much more difficult without him.

When Aevary was a little over a year old, we were referred to Early Intervention, a family-focused program where she received physical therapy, occupational therapy, special instruction, oral motor/feeding therapy, and speech therapy. Aevary is now 16 and still needs most of those supports. She attends a school for children with disabilities. She learns best with visual models, constant repetition, hands-on learning, structure, and a lot of 1:1 instruction. Reading, writing, math, and academic skills in general are incredibly difficult. Aevary’s strengths lie in her kindness, sense of humor, love of music and acting, social skills, and her fun-loving personality.  She has a real talent for remembering lyrics and song melodies. She will dance the night away when given the chance. She used to have an obsession with collecting, writing on, and folding paper but now prefers to collect sparkly rings.

Aevary had issues with her hearing, requiring the use of a hearing aid for a couple of years. This eventually resolved and the hearing aid was no longer needed. This shifted after seeing a chiropractor. I’m not sure if this was coincidental. She also had vision concerns requiring her eye to be patched for a while, and she started using glasses in grade school.

Her baby teeth were soft and prone to decay. She has a high, narrow palate with overcrowded adult teeth, one of which grew from the center of the roof of her mouth. She went through two rounds of braces and a palate expander, which was no small feat due to her sensory issues, and now sports a lovely smile.

Aevary was diagnosed with kyphoscoliosis when she was about 10. It progressed quickly despite Aevary wearing a back brace for 23 hours

per day. She had spinal fusion surgery when she was 11 years old, and had titanium rods and screws attached to her spinal column between her T3 and L3 vertebrae. This was a major surgery, and thankfully has been successful thus far.

Aevary has hypermobile joints and hypotonia, which has made her prone to joint injury. She had a complete tear of her ACL and s complex tear of the meniscus, requiring surgery when she was 15. Aevary saw Dr. Cordelia Carter at NYU Orthopedic Hospital, and she tailored the surgery to Aevary’s specific needs. The rehab has been a long and slow but successful process.

While Aevary was diagnosed with sensory processing disorder in early childhood, occupational therapy has helped her learn activities like swinging, bouncing, doing heavy lifting, etc. to regulate her sensory system. She does not feel pain in a typical manner. For example, she has been prone to developing ingrown toenails, some of which have led to painful infections. She won’t complain or realize she has an infected toenail unless she sees it. She barely complained of pain after her back surgery. An ER doctor didn’t believe she had an ACL tear in her knee because she didn’t complain enough about the pain. Sometimes she can tell that something hurts, but can’t describe the pain or where it is coming from. All of this can make diagnosis and treatment quite complicated.

Aevary has received many diagnoses through the years. Some of the early attempts were not accurate, like cerebral palsy and Sotos Syndrome. The challenge was that Aevary had many similar delays or characteristics associated with these diagnoses but not all of them or the critical one. Following the suggestion that she might have Sotos Syndrome, we flew to Wisconsin to attend a Sotos Syndrome Conference where Dr. Bradley Schaeffer, one of the foremost experts on Sotos Syndrome, was speaking. Dr. Schaeffer informed us that Aevary did not have Sotos, but probably some other overgrowth syndrome, possibly not yet identified. He could tell by her appearance. She did not have the telltale facial features of Sotos, even though her other symptoms were very similar.

Several years later, as we were settling in to the notion that we may never know exactly what was going on with our daughter, Aevary’s geneticist, Dr. Naomi Yechelovitch, submitted Aevary’s case history to The Childhood Overgrowth Study. Aevary, her brother, father, and I all gave blood samples that were sent over to England where the study was based. Then one day, after a year or so of waiting and getting accustomed to life without a diagnosis, we received a letter indicating Aevary was one of the first 12 people in the world to be identified with TBRS (then referred to as DNMT3A Overgrowth Syndrome). After years mired in the gray clouds of uncertainty, a ray of light shone down in the form of Dr. Kate Tatton-Brown, clinical geneticist extraordinaire. Dr. Kate was one of the lead researchers in the study and I always say we scored the best doctor as she possesses that rarest of gifts of a brilliant mind, a compassionate heart, and an ability to communicate both exquisitely. We are so fortunate that Dr. Tatton Brown was part of the team that identified and now works to understand our “little syndrome.”

In addition to TBRS, Aevary is diagnosed with borderline Arnold Chiari malformation, autism, ADD, pervasive developmental disorder (PDD-NOS), hypotonia, and cognitive disabilities. She seems to be very sensitive to hot weather, which can cause her to become lightheaded and prone to fainting. She also has polycystic kidney disease, which we understand is unrelated to TBRS.

It has been nothing short of life-changing for Aevary and our family to meet other diagnosed individuals in the TBRS Community. It feels like finding long-lost relatives that you’ve never met but always known. There is this immediate connection that is difficult to explain, but many families relay the same feelings. We are so grateful to have found each other.

Aevary has faced a lot of challenges in her life thus far. She is one of the bravest people I know. She makes us laugh constantly and loves a good knock-knock joke. Give her a malted vanilla milkshake and a song to sing and she’s as happy as anyone. She maintains a positive attitude through even the difficult times, loves to swing on her swing set, and enjoys vampire movies and spending time with friends and family—especially her older brother Aiden.  She brings joy and merriment wherever she goes and is a delight to spend time with.

Written by her mom Jill and dad Joe

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