Romana’s Journey with Sotos Syndrome

This month in the Year of Discovery, FDNA spotlights overgrowth syndromes. Every case uploaded in April will be matched with a $1 donation sponsored by Invitae and benefiting the Child Growth Foundation.* Every time a patient’s case is analyzed by Face2Gene, the de-identified information will train the system to recognize new associations between phenotypes, facial characteristics and genes. This information will improve our understanding of rare diseases and directly impact the lives of patients and families for years to come.

Sotos Syndrome is an overgrowth syndrome characterized by fast growth in childhood, often beginning in infancy and sometimes continuing into teenage years. Features of this rare genetic disorder are more apparent in childhood and include large elongated heads, large foreheads with receding hairlines, down-slanting eyes, a narrow face and a pointed chin. Developmental delay and learning disabilities are common.

One family associated with the Child Growth Foundation shared their daughter’s journey to reach a differential diagnosis of Sotos Syndrome, also describing the years since and the outlook for their daughter’s adult future.

Romana’s Journey

Romana was born a healthy and content baby after a long and difficult labor. Her parents were pleased that she fed and slept well in infancy but did notice some early signs that Romana wasn’t interacting like other babies her age.

“Romana was our first child, and we had very little idea of what to expect in terms of development. However, after a few months, we did notice that she was reluctant to hold eye contact for any length of time and seemed unusually quiet for a baby of her age. Since she was still remarkably content and such an ‘easy’ child, we counted our blessings,” said Romana’s mother.

As Romana grew and missed major developmental milestones, her parents grew concerned and alerted their pediatricians. When Romana was still unable to walk at 24 months, Romana’s parents and pediatricians agreed that it was time to begin searching for answers.

She was diagnosed with a global developmental delay and eventually did take her first steps at 26 months but even after a series of tests, Romana’s parents and pediatricians had no answers for the delay. Without a diagnosis, planning for Romana’s future and providing her the best chance to thrive, was a challenge for her parents.

As she fell further behind her peers in terms of development, they considered options for her education. At the time, they lived in the county of Dorset in South West England. After Romana turned 3 years old, they were able to obtain a statement of special educational needs so that she would be given a place in a school for children with moderate learning difficulties.

Romana enjoyed school and remained especially happy and healthy through childhood. Her parents still worried about her delays, and without a diagnosis, wondered if they were at fault in some way.

Clinical Diagnosis

At the age of 6, Ramona was able to speak well and was making progress reading and writing, thanks to the care of her parents and teachers. After moving to Hampshire, Romana’s parents began looking for pediatric care for her and found a clinician who offered them a significant breakthrough.

“When we took Romana to see a new pediatrician for a regular developmental check, he immediately suspected that she may have Sotos Syndrome and referred her to a clinical geneticist,” said Romana’s mother.

This clinical geneticist quickly diagnosed Romana as a probable case of Sotos Syndrome. Romana’s case was challenging because at 6 years old, she did not have all of the facial features associated with Sotos Syndrome. The diagnosis was a relief to Romana’s parents but she remained happily unaffected.

“Although in some ways it was very reassuring that we now had an explanation for the delayed development, we soon realized that a “label” made no difference whatever to Romana and that she would continue to progress at her own pace and be the same happy child that she had always been,” said Romana’s mother.

Around the time of this diagnosis, Romana did begin having seizures, which have been noted in some patients with Sotos Syndrome.

“The first fit was alarming and took us completely by surprise. She had a grand mal seizure that lasted almost half an hour and culminated in her stopping breathing and turning blue. That was the start of a series of fits that lasted for approximately two years, although none of the subsequent fits were as severe,” said Romana’s mother.

Romana was prescribed an anticonvulsant to minimize these episodes but eventually, the seizures stopped and Romana was able to discontinue that medication and didn’t require any medication from that point forward.

Even with a probable differential diagnosis, Romana’s parents wanted a concrete answer so Romana’s doctor sent her blood samples off for molecular diagnostics. Unfortunately, the test ordered at the time was inconclusive.

In her teenage years, Romana made up for her earlier lack of verbal communication and expressed her strong opinions readily. She is still affected by learning disabilities but she was outgoing and well-liked among her classmates. Her growth rate slowed considerably in her teenage years and her younger sister began catching up to her in height. Romana’s parents are planning for her adult future with great optimism.

“It is too soon to know whether Romana will be able (or wish) to live completely independently as an adult but we are now optimistic that she will be able to make informed choices and lead a happy and fulfilling life,” said Romana’s mother.

Join the Year of Discovery

Roman’s diagnostic journey began years before Face2Gene was available but Sotos Syndrome and other overgrowth syndromes are now recognized by Face2Gene because numerous patient photos and case uploads have taught the artificial intelligence system to recognize characteristic facial features and other associated phenotypes.

If accelerating advancements for rare disease patients is important to you, join the Year of Discovery initiative.

Healthcare Professionals: Do you have cases to upload that can help Face2Gene recognize overgrowth syndromes and accelerate advancements? Upload them through the app or at Face2Gene.com.

Patients and Families: Ask your doctor to add your or your child’s case to Face2Gene. The personal information will only be accessible to your doctor but the de-identified data may help others who are battling a rare disease. Click here for more information.

About Child Growth Foundation

The Child Growth Foundation is a leading charity supporting adults, children, and their families with rare growth and endocrine conditions. Their mission is to support children and adults with growth-related problems, and their families, fund research into potential solutions, raise awareness of growth problems and support health professionals in the management of these conditions. For more information, visit www.childgrowthfoundation.org.

*All donations are provided directly by the participating sponsor in such month and at its sole responsibility. Amounts may be capped to a maximum in each month, at the participating sponsor’s sole discretion.