Born May 7, 2021 - Diagnosed October 19, 2022

August’s journey has been different from most toddlers his age, but it hasn’t been any less wonderful. He was born with strawberry blonde hair and shimmering blue eyes. He appeared slightly unique - with different sized pupils, a preauricular pit on the exterior of the ear, and translucently pale skin with visible veins. August seemed to be an angel of a baby that always was asleep, had an inaudible cry and didn’t stir around loud noises. As new parents, we were blind that these might be warning signs of a potential health condition, despite his inability to nurse and difficulties staying awake for a bottle.

At his 3 month check-up, August was flagged for central hypotonia, limb hypertonia, and brachycephaly. This led us to be seen by the neurologist, who ordered genetic testing and a sedated MRI. There were no abnormal findings. However, as time began to pass, we watched August consistently miss most milestones. He struggled with constipation, agonizing to make a simple bowel movement. His hands were always firmly fisted, despite daily efforts to massage them to relax. His eyes wandered farther and farther apart. He began some self aggressive tendencies such as flipping his eyelids inside out. On outdoor walks and inside the house, he was incredibly sensitive to light. Tummy time was impossible, as his body was very limp and floppy. He struggled to stay awake during feedings, and had difficulty suckling from a bottle.

August was referred to receive further interventions, including vestibular therapy, feeding therapy, occupational therapy, and physical therapy, and he was directed to many specialists: neurology, dietetics, gastroenterology, audiology, ophthalmology, pulmonology, genetics, immunology, plastic surgery and an orthotic prosthetics lab. Our Pediatrician, Dr. David Sonderman – really changed the game for us. He took our concerns about August’s condition very seriously and was active about referring us into numerous therapies without a formal diagnosis. He understood our concern that we were in the critical learning days of the first three years of a child’s life, where the earlier you get an intervention in place, the greater the impact you can have on their entire future.

During his first year of life, August:

• wore two prosthetic helmets for a total of 9 months for brachycephaly

• wore AFOs to support his ankles and to bend his feet to the correct angle

• wore medical grade compression garments on his legs, arms and torso to help him realize his body in space

• had his core and limbs brushed daily to stimulate his nerves and provide sensory input

• had his hands massaged open daily so they wouldn’t be so firmly fisted

• spent time strapped into a stander to strengthen his muscles over time

• underwent double eye surgery to fix his exotropia

• experienced two seizures

• attended therapy to cope with low sensitivity in the mouth

August’s doctors explained that his neck, limbs and trunk were incredibly weak, especially on the left side of the body. It became clear that August had trouble understanding how to use his fingers or hands. Due to his floppiness, sitting up independently seemed like a milestone that may never be reached. We continued to visit the neurologist for abnormalities, but continued to find no known diagnosis.

At 15 months old, August had a bad bout of RSV. This caused him to suffer respiratory failure and require Intensive Care for a week. He had a difficult time recovering due to the weakness of his lung muscles. August now uses a medical oxychamber mask multiple times daily to combat long lasting effects of the illness.

After 15 months of physical therapy, August could successfully crawl on all fours. Around this time, we received a call that the doctors had received important information. I remember the day distinctly, when I saw that our test results had come back – often referred in the disability community as “D-Day”. My son was almost 18 months old. Our neurologist called me, and in his soft, comforting voice said “Your son has a condition called DeSanto-Shinawi Syndrome. It is a genetic deletion. I’ve never heard of this before. It appears around 200 people have this globally.” I listened as he instructed me on the phone through a brief 3-page PDF that was available at a website online about the condition. Then, to my delight he said “Wait! I know this Doctor. He is a friend of mine, here, in Saint Louis.” Of all the places in the world, how on earth were we so lucky that the one expert on this condition is located ten minutes away? It seemed that day, in this moment, that after a traumatic year our stars had finally aligned.

August’s current medical regimen:

• weekly therapies, at home, at the hospital, and at daycare (around 11 times a week, including PT, OT, feeding, speech)

• monthly specialist appointments

• SMOs

• medical grade compression garments worn daily on his body to address sensory processing issues

• daily vibrating devices and brushes to help stimulate his nerves before play sessions and prior to meals

• daily medications and a dairy-free diet to control extreme constipation

• daily breathing treatments for respiratory issues

Moving forward, we intend to discuss treatment and prevention for further respiratory illnesses and being immunocompromised. August will continue aggressive physical, occupational, speech, feeding and behavioral therapy. He is being monitored for seizure activity. In the chance that August is non-verbal, our family is learning sign language. Alterations are being made to our house to make it safe for our son’s walker. We are shifting focus away from fear, and instead to the incredible joy our child brings to us - while allowing ourselves time to process that the future we had envisioned for our family is different now.

Although August’s days are busy and naps constantly disrupted, August is remarkably resilient. He seems comfortable with constantly changing caregivers, shifting environments, and no consistent routine. He loves to snuggle, take baths, and spread smiles to anyone near. His progress and self determination is quite inspiring. Being August’s parents is the greatest gift that we could have received.

After we received our diagnosis and were provided with some answers, it gave my husband and I a chance to come up for air. We found ourselves wanting to help other caregivers that were in beginning stages of navigating an unknown childhood illness or rare disease, who were just thrust into the traumatic deep end. We wondered how can we use our experience to help lighten other caregiver’s loads? This is how Best Special was born. We hope that our product recommendations can help smooth the road for other parents navigating the bumpy journey of children with disabilities or unknown illnesses.

UPDATE 12.19.23

Our family has since happily welcomed two little boys, Emmet 7/22 and Rex 10/23. August is adjusting to his new role and is an incredibly sweet, caring and affectionate older brother. Since 2022, August has been diagnosed with Autism and Dysphagia. He continues his aggressive PT, OT, and Speech therapies with the additions of ABA and feeding therapy (with a Speech therapist and OT present). He wears adorable glasses now to help with his astigmatism, continues to wear his SPIOS and AFOs, and is being monitored for seizures. He continues to blow all away with his efforts and fills everywhere he goes with giggles and smiles.

UPDATE 9.10.24

August’s behaviors have become more and more challenging. With frequent meltdowns and SIB (Self Injuring Behaviors), our family - along with input from multiple doctors - decided medications were a necessary route. August was becoming a danger to himself. Along with medication, August now receives behavioral therapy every morning at school as well as two hours of ABA (applied behavioral analysis) therapy at home daily. It is making improvements.

August underwent his first IEP with the school district. It led us to understand that a special needs classroom would be better suited for August than his typical daycare. In his new class, he receives support in all areas (adaptive, behavioral, OT, PT, Speech). August has school four half-days a week, and is beginning to become more comfortable in his glasses! He continues to wear compression garments and SMOs.

Due to August’s restrictive diet and texture preferences, he takes special vitamins and is about to restart feeding therapy. He continues to be monitored for seizures, and is about to be tested for Cortical Visual Impairment and Sleep Apnea. Constipation continues to be his biggest struggle, needing occasional clean-outs with NG tubes. We will be traveling to the renowned Cleveland Medical Clinic to try to find out the best way to solve his G.I. issues.