Racing Against Death

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.

The good news: You can help.

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:

wehealth.io/intro/12/

Curing Rare Disease: What We Have to Gain

30% of children with rare disease will not live to see their 5th birthday.

This reality reflects the inability of our medical system to diagnose and treat children with rare disease. While we have made significant progress, there is clearly a long way to go. In today’s world, where technology advances at a breakneck speed, it is unacceptable that we have been unable to find a way to keep these children alive.

To put this into perspective, I performed some back-of-the-napkin math. According to the CDC (link), 1 in 500 newborns died before their 1^st birthday due to a rare disease. In other words, 0.2% of all children who enter into the world never have a chance to live out their dreams. While 0.2% may seem small, if you apply it to the US population, 700,000 people could have been alive today if we had means to cure their rare disease. To see what we lost out on, I applied these numbers to several professions (numbers from Department of Labor Statistics).

Below, see what these children could have achieved, given the chance:

We need to change the thinking that these diseases are rare.  Imagine the impact if 1,700 police and firefighters suddenly disappeared.  If we suddenly lost 8,000 doctors and nurses or 85 professional actors and musicians.  God forbid a congressman disappears.  Can you imagine the outcry?

These children have so much to offer the world.  We just need to give them the chance.