National Rare Disease Day: Von Willebrand Disease

With National Rare Disease Day right around the corner, I thought I’d share how this day is important to our family. My (step) son was diagnosed with Von Willebrand’s Type 3, the most severe, when he was just a year old. After many stays in the hospital, the diagnosis brought relief and fear to his father and mother.  While they finally had answers to what their son was going thru, they had a new fear of what the future would hold.

According to the National Hemophilia Foundation, “Von Willebrand Disease is a bleeding disorder caused by a defect or deficiency of a blood clotting protein, called von Willebrand Factor. The disease is estimated to occur in 1% to 2% of the population.” This factor is critical to beginning stages of clotting.

“This glue-like protein, produced by the cells that line the blood vessel walls, interacts with blood cells called platelets to form a plug which prevents the blood from flowing at the site of injury.  People with von Willebrand Disease are unable to make this plug because they do not have enough von Willebrand Factor or their factor is abnormal. “

They say Von Willebrand’s is genetic but Joshua’s mother nor father have ever been diagnosed. In fact, when tested, all results show up negative. So, it’s unclear how and why this has affected him.   When I met Joshua’s father, I had no clue what Von Willebrand’s was. I had never heard of it. Joshua quickly taught me the ins and outs of the disease and what it means to care for himself.

This disease affects his life but we never let it become his life. While he’s not able to play contact sports for fear of injuries, which could be severe for him, he is a top soccer player who has the dream of going Pro. He’s well on his way, playing for two top teams and has recently joined the ODP (Olympic Development Program) to strengthen his skills.

If he gains too many bruises from a soccer game or even from playing outside, he has to be treated with the Von Willebrand Factor. While he’s not fond of treating, he’s fully capable of treating himself so we don’t have to call a nurse in. At 11 years old, he’s one brave young man and I can’t possibly describe how proud I am of him.

I know his father gets frightened sometimes when seeing a new bruise. He lived the early days with Joshua……when he could have easily died. When he was very close to dying. He lived the unknown…before they had answers. I also know how frightened I get. Having not dealt with this for Joshua’s entire life was scary for me. What did it mean? When helping him with his treatments would I hurt him? Was I doing it all right?  The first time I saw him stick himself with a needle, I cried.

An 11 year old boy has the strength and the courage to know what to do in a state of emergency to care for himself. I know adults that could never do what he does. When I told him I was writing this article, he just so happened to be treating himself that day. At his suggestion, I took a few photos of the process of a treatment.

Here’s a bruise Joshua got playing soccer. Seeing a bruise like this is a red flag that it’s time for a treatment. While it may be nothing, you have to be safe.

This is the factor we inject Joshua with. It’s AMAZING how quickly this can stop a bleed.

Mixing the medicine

Getting the needle in place. He’s pretty good at hitting his vein the first time!

In the factor goes…..

Will we always deal with this with Joshua? Yes. Unfortunately, we will. If he falls too hard…if he cuts himself…..if he bruises too big…..there’s always a fear of an internal bleed….we, as parents, will always worry. But, we will never allow Joshua to stop living. He can live a perfectly normal life. He may have to be a little more careful. He may have to avoid some activities other kids love doing like something as simple as jumping on a trampoline. But he focuses on what he CAN do.

I am so proud that, even as a young child, our son can teach others how to treat themselves. He can teach them how to live and how to never let your disease control your life. He shares his strength at a hemophilia summer camp and was recently asked to attend an infusion clinic to show other children they can treat themselves too!

So, National Rare Disease Day is important for our family. This day is about raising awareness worldwide of the experiences families face with rare diseases.  Experiences your own friends and family are facing. Experiences you may not even be aware of.

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