As an online manager of international patient communities for many different rare diseases, I receive emails every day from parents and affected people looking for help and information about their illness.
When I met parents Karl and Annie, they wanted to find other parents whose children had the same genetic mutation called “FOXP1.”
“Deletions in the FOXP1 gene have recently been identified in children with autism spectrum disorder and intellectual disability.” Source: Online Mendelian Inheritance in Man
There was no specific syndrome name, no support groups, and only a few research papers that seemed to describe children with similar symptoms to their son. Karl and Annie partnered up with the European Organisation for Rare Diseases (EURORDIS), which operates RareConnect, to set up an online community for FOXP1 in the hope of finding other isolated parents and adult patients to share information and experiences with on topics such as speech and language development.
The challenges of genome sequencing
The main challenge they have faced is that so few families have access to whole genome sequencing, or are even aware that this particular mutation could be responsible for their children’s developmental delays. However, the cost of genome sequencing is falling, so we will likely see more people finding out about mutations like FOXP1 in the future, which will mean more people will be able to jon together and improve the understanding of their or their children's rare disease.
Karl said, "Our son Jonah, is an energetic, engaging nine year old, with broad developmental challenges. After a long odyssey trying to understand the reason behind his developmental and behavioral challenges, visiting with many doctors and specialists along the way, this year we finally learned, through whole genome sequencing, that he has a point mutation in the FOXP1 gene. After looking at the other described cases in the scientific literature, it was amazing to see how similar he is to the other children, including the characteristic physical features.”
Figures from The National Human Genome Research Institute show that from an initial cost of over $100 million per genome, we are now approaching an era of the test costing $1,000.
Slowly, families searching Google for information and support on FOXP1 started finding - and joining - the new RareConnect online community.
Lindsey, one of the newest of 8 families to find the community writes, “My sweet Cade turned 2 years old in March; we received his Whole-Exome Sequencing results and FOXP1 "diagnosis" this past December 2013. Cade's mutation is a de novo "missense" mutation (Taurine and Adenine are switched around... Just one tiny "typo" in the FOXP1 genetic code.). Cade has many other genetic mutations, but nothing that doctors can confirm is a cause of his many health issues.”
How you can establish your own rare disease community
If you don’t find information on your disease or your child’s symptoms if they have no diagnosis, why not consider creating a blog or online community yourself? Then, next person looking searching online for the same thing can connect to you and others who understand what you're going through and not face the isolation you faced when trying to share experiences.
What I often see happening is that the patients or their families who meet online begin to work together. This is where associations and patient movements start. Don’t wait around for anyone else to connect you. Researchers, pharmaceutical companies and doctors will also find your disease community or website and patient-focused input into the care process then begins. Because of the internet, it is now increasingly common for patients and families themselves to drive research and understanding forward, a very exciting prospect for the future.
Cade’s grandmother, who also joined the community, said, “I am thrilled beyond words, that my daughter found this group. To be able to compare notes on this rate disease will be an invaluable resource as we all wade through the maze of tests, doctors visits & not knowing where to turn next for some answers or help.”
As part of my work, I write a blog for RareConnect aimed at giving patient advocates the skills to run and promote their own communities. Why not take a look and see if there are some tips you can use too?
EURORDIS leads the flagship annual Rare Disease Day® campaign.
- 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
This is wonderful news! As the parent of a special needs child, I often feel isolated, particularly in the early days. Reading the stories of other families with the same syndrome as my child helped so much. Now I have connected with them via facebook which means that daily we are sharing news, questions, challenges, information and achievements. We are lucky that we live in an age where this is possible.
My daughter was diagnosed with a rare syndrome in 2005, there was minimal information even when you googled it. Now I am an admin on the facebook page devoted to her syndrome, it is amazing what you can find out by sharing information with other families living with the condition, there is still a lot the doctors don’t know, and parents/carers are the experts, once a diagnosis has been made. Great article.
SWAN UK are also a fab support group for those that have yet to be diagnosed or have a Syndrome Without A Name http://www.undiagnosed.org.uk