“When only 100 people in the world share your child’s specific gene mutation, it is hard to find anyone who understands, including doctors.”
Rare diseases are at a disadvantage when it comes to research simply because there is such a small patient population to study. Coupled with the fact that even the same disease can present itself very differently across individuals, the investigation of rare conditions can be an extremely difficult task.
There are thousands of known rare diseases, and thousands more that have yet to be discovered. This means that there are thousands of patients living without proper diagnoses, let alone proper treatment. One of the most little-known rare conditions is caused by mutations in the GNAO1 gene. It’s so rare, that is hasn’t officially been named.
People living with GNAO1 mutations are often mistaken for having cerebral palsy as the symptoms are quite similar. These include developmental delays, uncontrolled movements, and seizures. Symptoms typically present in the first year of a child’s life. As they age, children never gain the ability to speak or walk.
The GNAO1 mutation wasn’t discovered until 2013. As word spread about its existence, doctors began to recognize the condition and were able to begin providing diagnoses. Now, utilizing data from the known patients (currently 100 worldwide) researchers are attempting to create a diagnostic guide and a treatment guide for the mutation. This research is being conducted at Washington University.
As our understanding of the presentation of this disease itself is so new, there are no current treatments available for patients besides some symptomatic care. Some patients take anti-seizure drugs and some must even undergo brain surgery to control their seizures.
It’s suspected that there are mild and severe forms of the condition but all of the currently diagnosed patients are unfortunately severely affected because the journey to diagnosis was so long. No patient has been able to receive a proper prognosis or life expectancy because so much is still unknown.
Washington University just recently hosted the very first GNAO1 clinic which brought patients from all over the globe to learn more about the condition. Families came from the United States, Italy, and Argentina.
They plan to make this clinic an annual event. The goal is to track patient’s symptoms in order to create a baseline from which researchers can measure success and failure of treatments. They also hope to uncover the cause of the mutation. So far, it’s believed that it is a spontaneous mutation, not one passed down through families.
As part of their research, children with the condition were tested by physical therapists and occupational therapists. They documented things like motor skills as well as social development. These sessions were all conducted at the St. Louis Children’s hospital and filmed so that researchers could refer back to them.
Aside from the obvious benefits of research, the study at Washington University brought patients and families together who had never met a single other soul living with their diagnosis. These individuals were able to connect to each other on a deeper level.
They could relate to each other concerning the fact that they’ve often known more about the condition than the doctor they’re going to see. Their children experienced the same symptoms, characteristics, triumphs and joys. The parents were able to discuss their trials and tribulations with people who really understand.
The Bow Foundation
The Bow Foundation helped to fund the research clinic. This nonprofit organization was founded by Stephen and Emily Bell as well as Duke and Alice Fox who are both parents of children living with the condition. They provided 65,000 dollars to Washington University to help make this research a reality.
The foundation was named after Madeline Bell’s characteristic hair bows. She is 4 years old but her developmental ability is that of a 3 month old. She is connected to a feeding tube and averages 4 seizures every day. She is unable to communicate but her family says it’s still evident she’s a happy little girl.
For these families, it’s about taking things day by day, doing what they can to contribute to research, and enjoying every moment they have with their child.
You can read more about the GNAO1 mutation and this recent research here.