Photo Credit: E. Jason Wambsgans / Chicago Tribune
Laine VanHoutan, a posterchild for kids around the world fighting Batten Disease, died at the tender age of 12 – but not before helping usher in the first treatment for her disease, one that may help prevent a similar fate for her peers.
Laine and 64 children who contributed to the clinical trial for this new treatment, Brineura, are true heroes. But they also highlight a tragedy in medicine. 95% of rare diseases are untreated – Batten Disease has a 100% fatality rate with an average lifespan of just 12 years old – and many rare diseases are not diagnosed until irreversible damage sets in.
Moreover, due to its rarity – Batten Disease only affects 2 in 100,000 kids – it is very difficult to find enough patients just to test whether a promising drug works. If we can figure out how to diagnose children with rare disease earlier before irreversible damage sets in, we can potentially save children like Laine.
I’ve always disliked the term “Rare Disease” because, as a whole, these patients are everywhere. Do you know somebody with rare disease? How about somebody who is left handed? 1 in 10 people has a rare disease. That’s the exact same proportion that is left handed! There are over 7,000 rare diseases so, while each one may be rare on it own, many of us are silently fighting a rare disease.
We started WeHealth to tackle some of the issues facing Laine and others with rare disease. A major issue is the diagnosis problem. Many rare diseases begin showing symptoms long before patients end up in the hospital. For instance, children with Batten Disease may exhibit learning impairment, clumsiness, and seizures years before a diagnosis.
We work with advocacy groups to identify these symptoms and ask you get them out on your social networks. You may have friends whose kid matches these symptoms or you may know a healthcare worker who sees lots of these kids but hasn’t heard of Batten Disease (with 7,000 rare diseases, it is very common for this to be the case).
Sharing this information can easily save a life. Check out our new campaign to help rare disease patients and help with a few clicks: