Undiagnosed: The Story of Clyde Wayne Thomas

By Madeleine Thomas

After low risk NIPT results, 3 perfectly normal anatomy scans, a perfect pregnancy, and an unmedicated, uncomplicated birth,  Clyde Wayne Thomas, was born at 8:56pm on October 25, 2023. He was born on his due date without an induction, a “due date baby”. Our labor and delivery team hadn’t seen this occur in years. We facetimed family and friends, took endless pictures, and stayed awake all night memorizing every detail about our magical babe.

Our pediatrician came to meet Clyde at 7:00am on October 26th. He was concerned about Clyde’s missing reflexes, eyes that would not open, clenched fists, rocker bottom feet, and mixed muscle tone. A scan of Clyde’s brain was ordered to rule out infantile seizures. The scan showed no seizure activity. A test was run to rule out Trisomy 18, a fatal genetic diagnosis of Edward’s Syndrome. Clyde did not have Trisomy 18.

As first time parents, we had “our baby is special needs” conversations just 12 hours after he was born. We could not reconcile what we were being told about our son, with the perfect anatomy scan results we were given throughout my pregnancy.

By 5:00pm on October 26th, Clyde was taken to the NICU to evaluate his tongue tie. He was having problems latching and eating, but we were confident having his tongue tie released would resolve these issues. Clyde was in the NICU for 3 days, having every known genetic screening run on him. We were referred to Neurology. We were told “his disabilities are going to affect your quality of life”.

These screenings never detected what Clyde’s diagnosis was or what to expect from it. We were relaying what we could to our family and friends, which wasn’t much. We didn’t want to alarm anyone, and we didn’t actually know what was going on.

While most families are on a waitlist for 6-12 months, Clyde’s ambulatory referral to genetics landed us an appointment on November 27th. From October 28-November 27, we saw our pediatrician every 2 days monitoring Clyde’s weight, started a fortified formula for weight gain, and began occupational/physical therapy.  Our Geneticist at Johns Hopkins ordered whole exome sequencing testing to be run. We were told the results would take 6-9 months to receive. Genetics referred us to neurosurgery, orthopedics, neurology, physical therapy, occupational therapy, feeding therapy, and ophthalmology.

My husband and I were first time parents at 28 and 29 years old. We were immediately and brutally thrown into the world of medically complex parenting. We averaged 5-7 doctor visits and therapy appointments a week. We were discussing selling our townhouse we had just purchased 3 months before, thinking we couldn’t live in a multi-level home with a child in a wheelchair.

On December 5th, we met with ophthalmology. We discovered Clyde’s congenital cataracts. His cataract removal surgery was scheduled for March 12th.

On December 19, we met with our neurology team at the Kennedy Krieger Infant Neurodevelopmental Center. Our neurologist wanted an MRI of Clyde’s brain and scheduled his imaging appointment for December 28th.

On December 21, we met with orthopedics. We learned Clyde needed corrective casting and reconstructive surgery for his rocker bottom feet.  He was also a candidate for scoliosis surgery.

Clyde’s feeding difficulties continued. He couldn’t eat without vomiting and choking. In an hour, he would manage to finish half an ounce of formula.

The images from Clyde’s brain MRI revealed his brainstem and corpus callosum were nearly completely missing. His cerebellum and prefrontal cortex were severely underdeveloped.

January 5th was our swallow study. Clyde was admitted to the hospital for being unable to swallow formula during the test. We spent 25 days admitted with an NG feeding tube, a g-tube placement surgery, and observation days to assure he could tolerate his feeds.

February 7th, Clyde had some erratic breathing patterns that led us to the ER. We had a 7 day stay with unexplained, irregular breathing. His  O2 saturation was great, so we were discharged.

February 27th, we had a neurology appointment that ended in a hospital stay. Clyde was in respiratory failure. He spent the next 10 days intubated. His brain’s ability to safely control the function of his body rapidly declined.

Our genetics team told us that what Clyde had was the first recorded case of its kind in the history of medicine. His phenotype included: joint contractures, rocker bottom feet, congenital bilateral cataracts, oropharyngeal dysphagia (severe dysfunctional swallowing disorder), hypertonia/hypotonia (mixed muscle tone), scoliosis, microcephaly, thinning of the corpus callosum, white matter volume loss, inferior vermian hypoplasia (underdeveloped portion of the cerebellar vermis), tachypnea (abnormally rapid breathing rate), palatal hypoplasia (high, narrow, arched palette), ankyloglossia (tongue tie), optic nerve hypoplasia, ocular nerve hypoplasia, craniosynostosis (overlapping fontanelles), eyelid ptosis, and diaphragmatic flutters.

We began to clearly understand that Clyde would never walk, never talk, never see, never breathe on his own without a tracheostomy and ventilator, never eat by mouth, and never be able to explore his environment. Our medical team gave him about 3-4 months to live. Deciding that passing away peacefully was more merciful than keeping him alive for another 3-4 months with tons of machinery and medical interventions, we moved forward with end of life care. Clyde passed away in our arms on March 10, 2024.

On March 8th, our geneticist gave us the results from Clyde’s whole exome sequencing test. The result were inconclusive. We completed further genetic carrier testing, and those results were also inconclusive. We still do not know what Clyde’s diagnosis is, and we may never know. No prenatal testing or newborn screening detects Clyde’s diagnosis, and no genetic testing detects Clyde’s diagnosis. Our magical babe remains undiagnosed.

We miss you, sugar.