How We've Found Support for Our Child's Ultra-Rare Disorder

While the world has turned upside down in almost every way over the past four months, there is one thing that has been comfortingly constant: our online parents group.

With fewer than 100 diagnosed cases of my daughter’s ultra-rare condition – a mutation on the HNRNPH2 gene – throughout the world, there was never a very good chance of finding a local support network or someone with the same diagnosis living just down the road from us. We have never randomly met someone who knew another person with our condition, including those who work in the medical profession or specifically with children who have disabilities. It just doesn’t happen.

So what do we do when we have questions, or need to rant, or have to share that my daughter just did something amazing that would make no sense to anyone else? We just go to our phone.

Our online HNRNPH2 parents-only Facebook group has been a part of our lives since the day my daughter received her diagnosis in 2018. We have learned more from this group of parents than we ever could have from any doctor or therapist. We got to know other people with the condition who are my daughter’s age, but also some who are my age, which is the closest we can get to a crystal ball to give us a glimpse of what her future might look like. We have celebrated milestones big and small with the same excitement and joy we would feel for our own child.

Our ability to connect online has taken on an even more important role this year when our annual family meeting takes place later this month. This annual meeting only started taking place two years ago, in 2018, which is incredibly quick considering the initial paper identifying the condition was only published in 2016. We are blessed with a group of highly motivated parent-organizers. The meeting normally takes place in New York City in July, and attending last year was one of the highlights of our year.

This year the meeting will be held virtually. The planning team is doing a heroic job of moving all the arrangements online and dealing with new pressures of pre-recordings and time zones and language barriers. Although it won’t be the same as being in the same room with the other families, we will still be able to listen to all the researchers and clinicians who understand our condition better than anyone else in the room and have discussions in groups and one-on-one with the other families. It’s not the same, of course, but it really is the next best thing.

I cannot begin to imagine how difficult it was for parents of children with rare conditions before these kind of resources were available. Although we have support from other places, including our own families of course, there is absolutely nothing compared to the ease of talking things over with someone who is going through the exact same thing, someone who just gets it without the need for explanations.

So even when we are on the verge of having cabin fever in our locked-down world, with no educational support and too much screen time, I try to remember to be grateful for the technology that lets me, in a matter of seconds, connect with someone on the other side of the world who’s feeling exactly the same way.

Click here to find out more about the HNRNPH2 Yellow Brick Road Project