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  • Care4ASH1L

Rainbow Bright Brynn - U.S.A

Before giving Brynn’s detailed story and journey, I feel it is important to know who she is. Brynn is the third of 4 children and she knows her place being the third child. She never backs down and is always trying to be the center of attention. She is full of life and the smallest things please her. She has a laugh and a smile that is contagious and the smallest things bring her the greatest joy. She loves rainbows, ice cream, cupcakes, unicorns, mermaids and playing outside! She loves to count her sleeps to the days ahead. She has friends at school, imaginary, and stuffed. She has taught me so much in life. We live in a world that is constantly moving and is full of expectations and standards. Brynn has brought those to the forefront and has made me question all of it. Having a child with disabilities is not something I planned for and definitely comes with it’s challenges. As tough as it gets it has taught me and my family how to live and appreciate the true joys of life. As I like to call it Brynn’s World!

Brynn was born at 38 weeks at MGH in Boston, Ma. She was the third child. I had three miscarriages in between my second child and Brynn, with a 7 year age gap. I received a full genetic work up at 13 weeks and everything thing looked well with the exception of my maternal serum, which was in the 1%. My pregnancy was watched for Uterine Growth Restriction. She was born at 7lbs 6 oz. Immediately after her birth I noticed choking and gagging . I was told it was possible that she ingested amniotic fluid. Brynn was never able to latch for breastfeeding. As weeks passed I was told that she was still developing swallowing and sucking muscles and there were no concerns. I continued to push the issue and became overwhelmed after being diagnosed with a milk allergy. Brynn was colic and prescribed to

liquid Alimentum .

Her swallowing and choking never seemed to resolve. She was seen by two Feeding/Swallowing clinics before age one at Boston Children’s Hospital and Massachusetts General Hospital.

As we worked through her feeding/swallowing issues we started to notice a delay in reaching her milestones. She was diagnosed with torticollis, she had a lazy eye , and low muscle tone. We started with Early Intervention at three months and continued until age 3.

She continued to meet her milestones but at the cusp. She was very clumsy and uncoordinated. We continued to address her swallowing issues. She has received two Frenectomies to date and has received an evaluation for myofunctional therapy to help strengthen her mouth muscles. She suffers from drooling. This was a recommendation through her dentist/ orthodontist.

Right after age one we noticed periods of inattentiveness followed by vomiting. She has always had reflux but this vomiting was different. It was larger in volume and was followed by sleepiness. She went through several episodes, some she lost consciousness. We received different opinions from Febrile seizures, Absent seizures, and Cyanotic breath-holding spells. At this time we began a series of testing and started seeing multiple specialists. A head CT scan was done, which revealed a significant amount of fluid in her mastoids. Brynn started to be followed at BCH through the Center of Airway Disorders and Feeding and Swallowing clinic. After many tests, including a failed hearing test we decided we would go forward with removing the fluid and giving her ear tubes. She had no history of ear infections. She also had her adenoids removed because they were significantly blocking her airway. During the surgery it was also revealed Brynn had a small tracheal diverticulum. Her surgeon also informed us it was the thickest fluid in the mastoids that she has ever seen. Following this procedure things did seem to improve.

Brynn continued to be followed at BCH and MGH through a variety of specialists. She kept presenting with different issues and nothing seemed to be connecting. Aside from what was discussed above , she presented with other concerns. Brynn from age one would have severe leg pain, which continues to this day. She bruises very easily, easily fatigued, constipation, ongoing UTIs, ear pain, and sleeping issues. Her team of doctors and their departments have included Neurology, Otolaryngology, Orthopedic, Cardiology, Urologist, Gastroenterology, Ophthalmology, Endocrinology, Hematology, Pulmonary and finally Genetics. She is also followed under the Communication and Enhancement Center for Feeding and Swallowing evaluations, Barium Swallow studies, Speech and Language evaluations and The Center for Sleep Disorders. Brynn is not currently under the care of all these specialists. Over the years we have been fortunate enough to eliminate some.

Brynn receives OT, PT, Speech, Reading, and Social Skills through her IEP at School. She also receives OT and Speech services privately. One of her biggest struggles is her speech and language. Brynn struggles with word recall, sequencing, and recalling information. Her language also affects her social interactions. Very recently her behaviors and emotion regulation has increased which is also affecting her in school and group settings.

Despite all of these obstacles Brynn continues to thrive and she is doing it at her own pace! She plays soccer, softball, karate and gymnastics. She is reading, writing and continues to show growth intellectually. She loves playing with her friends and always trying to make new friends. Things don’t always come easy for her and she needs that extra work but she just does it and she does it with so much joy in her!

We received Brynn’s ASH1L diagnosis in October of 2021. As parents we felt validation of all of our concerns over the years , but it quickly turned into the unknown for us. We were told yes there is a genetic mutation, but in the same breathe it’s an ultra rare genetic disorder. There was not much known. We are very appreciative to have found and be part of this group. Together we can learn and advocate for our ASH1L Warriors. At the end of Brynn’s last genetic appointment I was told “ Brynn will teach us”! And that is now our mission!

Brynn’s Diagnosis

  • Neurodevelopmental Disorder related to a medical condition

  • ADHD

  • Language disorder

  • Mixed receptive-expressive language disorder

  • Phonological disorder

  • Congenital hypotonia

  • Developmental Delay

  • Feeding difficulties and mismanagement

  • Oropharyngeal dysphagia


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