Jonah was born in 2008 to excited parents in New York City. But at his first year check up, his pediatrician noticed his head circumference was large for his age. His parents thought little of it, but still took him for a precautionary MRI.
The doctors doing the MRI took one look at Jonah's skull deformity and the storage on his brain and knew that Jonah had a type of Sanfilippo syndrome, an extremely rare condition.
Sanfilippo syndrome is an inherited disorder caused by a defect in a single cell which means the body can't properly break down long chains of sugar molecules. It belongs to a group of diseases called mucopolysaccharidoses (MPS).
In MPS, the body is missing or lacking a vital enzyme that leads to a progressive degeneration of the central nervous system causing catastrophic health problems that end in death before adulthood.
To date there are four types of Sanfilippo syndrome. In May 2010, Jonah's parents found out their son had MPS IIIC and is so rare that only one in every 1.4 million babies are born with it. There are no treatments yet, just therapy.
Jonah also had the distinction of becoming one of the first children to be diagnosed asymptomatic without an older sibling being diagnosed first.
Like many other parents of children with rare conditions, Jonah's parents, Jill and Jeremy Wood were determined to learn as much as they could about the condition. They were advised by their doctor to build their own patient population, find the academics working in the field, and start a natural history study of the condition. They were told that by doing this, they would be laying the groundwork for a clinical trial and then pharmaceutical companies would take an interest.
With the help of an eminent team of New York doctors, this is exactly what they did and they are making good progress to seeing a treatment for Sanfilippo C. They've even formed a bio-tech company to help commercialise the scientific discoveries made by the work being done and are part of TRAIN, a platform for venture philanthropy in medical research
The charity they created, Jonah's Just Begun, is at the forefront of supporting research into Sanfilippo. Read more about their mission and efforts on Jill's blog, and try not to be inspired. Jonah will turn 6 years old this year and is energetic and doing well.
What's unique about Sanfilippo is the patient associations that are working together to work towards a cure for the disease. Recently, 15 patient associations from around the world joined together and created an international community on RareConnect. The community has a forum, information sections, and is in five languages with human translation to ensure important conversations are understood by all.
In addition to sharing information on managing daily life, they also coordinate together to support crucial research in to potential treatments for the disease.
Investigations and clinical trials ongoing include:
- Gene therapy
- Enzyme replacement therapy
- Chaperone therapy
- Stem cell therapy
- Substrate reduction therapy
Another parent of a child living with Sanfilippo says, "We will never give up hope that a treatment will become available and we have faith that the researchers and scientists will never stop trying until they find the cure."
You can read stories on RareConnect from other families searching for a cure for Sanfilippo.
Other links: Sophie & Tom Sanfilippo UK Blog
Don't forget to support Rare Disease Day on 28th February.
- Join the discussions that are connecting the rarest of rare diseases - September 16, 2016
- The pain of finding acceptance with Apert syndrome, a facial difference - September 26, 2014
- How Jonah’s parents are connecting families with his rare disease -and how you can too - May 23, 2014