Today is the 6th Annual Rare Disease Day. There are 6,000 – 8,000 rare diseases currently identified. A rare disease in the US is classified as a disease that affects fewer than 200,000 people. In Europe, it is classified as a disease that affects 1 in 2,000 people. For many, having a name to the syndrome doesn’t necessarily mean it’s a walk in the park. Since so few people are affected there is often not enough information available to provide a prognosis for many patients.
Then, you have kids like Braxton. So rare, that they do not have a diagnosis. Whatever it is that is affecting Braxton, does not yet have a name. There are no real statistics available for the number of children who are undiagnosed, but I’m certain Braxton is not alone. Often times a disease is so rare a child is classified as “undiagnosed” because the specialists they are seeing are not familiar with the disease. Or the child doesn’t grow in to the diagnosis until later in life because key identifiers are not present at birth. There are also identifiers that could indicate so many diseases that they really aren’t useful in diagnosis. It is also possible to have symptoms from two different syndromes that make a diagnosis even more difficult! Genetics is a very tangled web of possibilities! Even the Exome Sequencing test we did really only has a diagnostic rate of about 20% Our bodies have over 20,000 genes and currently, researchers only know what about 5,000 of them do for us. Thankfully, technology is constantly advancing, so it’s possible to find a genetic mutation in a gene whose function may not be learned until later on in a child’s life.
I’m so amazed by the medical community and how quickly things develop and change. Even in Braxton’s 20 months, things have changed. Exome sequencing was very limited at first, and it is now being offered by more labs and even being covered by insurance. That’s huge!! Advancements like this are made possible by raising awareness among the general public who can in turn help parents to advocate for legislation and services to help those with rare and undiagnosed diseases.
That’s what this is all about. That is why I write. I keep this blog to continue to promote awareness for the many kids like Braxton. You never expect something like this to happen, and nothing prepares you for it. The baby books don’t ever talk about the possibility of having a genetic syndrome. Reading about it now from us and others who live daily with this diagnosis, might prepare you one day when you find yourself scared that your child is being sent to NICU. Hopefully, a medical professional finds this blog and learns more about Braxton and eventually contacts us with a test that can possibly diagnose Braxton. Maybe a medical student finds it and when she begins practicing she comes across a kiddo like Braxton and she can say, Hey, I’m familiar with this. This isn’t so scary, overwhelming, or what have you. Maybe a legislator finds it and says, wow THIS is what Medicaid pays for, or it’s people like this who NEED more services, and together we CAN do something about it. The more stories that are put out for the public, the more awareness we can raise for a very real NEED!
There are over 60 countries participating in World Rare Disease Day 2013 – that is simply phenomenal. Whether you are a “One and Only” or have a disease that only affects 200 people worldwide, TOGETHER our voice is loud and we can ALL make a difference by standing together to bring awareness.You can join us in supporting Rare Disease Day by visiting the official website and also by visiting the Global Genes Project to learn about the “Wear That You Care” Campaign. I encourage you to wear your favorite jeans (yes, a play on ‘genes’), share our story, or the story of countless others who are living with a rare disease…if just one more person knows about rare syndromes, then today would be a success.
Here is the official video for Rare Disease Day:
And here is the video from the Texas Mommies of Miracles showing off our miracles living with Rare Diseases and the “Hope” they give us.
Thank you for your support and helping us spread the word!