Shifting the Shadows

For many years my parents have been trying to find what has caused the disabilities my brothers and I have. Although we have kept doing tests, we had almost given up hope of ever finding an answer. I thought to myself, “If we ever do find the answer will it do any good?” because it is the rarest of the rarest diseases. I thought there wouldn’t be any cure. For 27 years we had searched. Then one day, an out of the blue email changed everything.

I was working on my computer when my mom, brother, and I received an email from Joni Eareckson Tada. In it was a short story about how she had met a family that looked exactly like ours, and she had included a picture of them, along with their email addresses and phone numbers. We started talking, especially our moms.

The story of the two children in that family was almost exactly the same as the story of my brothers and me. How strange. We found out they had a diagnosis and had started treatments to help with their disease. So we had the same blood tests ordered.

A few weeks later my mom got a call from our geneticist. It was confirmed. We were diagnosed with Brown Vialetto Van Laere Syndrome (BVVL) an extremely rare genetic disease that has only recently been discovered.

I had a feeling this would be the result, but at the same time it was hard to believe we could have an answer after all these years. When I heard the news it was like an enormous wave came crashing down on me. It was shocking, but at the same time it was a relief.  We finally knew what was “wrong” with us, and we finally had something we could do to help. It has been only a few weeks since I started the first treatment and I am already noticing a difference in how I feel.

BVVL is a genetic disease that causes the body not to create certain proteins correctly. These proteins then cannot do their job of transporting vitamins through the body properly. Because of this, the body becomes deficient in key nutrients for cell health and development.

This being such a rare condition, there are many people in the world who have not been diagnosed. So I would like every one of you to spread the word as much as you can.

Thanksgiving is my favorite holiday. This Thanksgiving I have been thinking a lot about how thankful I am for a family that doesn’t give up and is supportive. Without their determination I wouldn’t know about BVVL. I am also thankful that God allowed us to find the other family. If we hadn’t talked to them it would have been much longer before we got a diagnosis, if we found one at all, and we may never have been able to connect with other families around the world going through similar things we are. I am thankful to know I am not alone anymore.

I spill out my thanks to Christ every day for my life, for the family He has given me, and for the love He has poured out over me through the many people who have helped me navigate this journey.

“‘Hear, O Lord, and be gracious to me;
O Lord, be my helper.’
You have turned for me my mourning into dancing;
You have loosed my sackcloth and girded me with gladness,
That my soul may sing praise to You and not be silent.
O Lord my God, I will give thanks to You forever.”
Psalm 30:10-12 (NASB)

If you would like to know more specifics about BVVL you can follow this link to the BVVL website.