On Second Thought: Rare Disease Day

Published 12:00 am Thursday, February 29, 2024

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By Marie Harrison 

For the Clemmons Courier

In honor of Rare Disease Day on Feb. 29, my daughter has given me permission to share her story in the hope that education leads to understanding and a cure.

During COVID, one of the many blessings my family experienced was the gift of time. With nowhere else to be and everyone at home for school and work, we spent a lot of time together as a family. And so one day, as my daughter prepared her lunch, scooping salsa out of one jar and moving it to her plate, my husband noticed something — my daughter’s hand had a slight twitch. I immediately dismissed it. It wasn’t very shaky, she was trying to be careful and not spill the salsa on the counter, she was young — you name the reason, I came up with it. But my husband persisted, something was not right. Initially, our pediatrician felt the same way I did. Our daughter was healthy, she had no symptoms of any other disease, maybe her hands were just a bit shaky, but my husband persisted, not stopping until he had a referral for neurology and thank God he persisted.

One visit with the neurologist and she was quick to side with my husband. Something was not right, but what?

The first step was an MRI of her brain to look for tumors that thankfully were not there. The next step was nerve testing, where she was hooked up to different electrodes all over her body, and given electric shocks of varying intensity to test her nerves for a reaction. On this test, something was off. I could see it in the way the technician looked. I could feel it when the technician had to continually leave the room to consult with the doctor. I knew it when the doctor finally came in and told us that some of my daughter’s nerves were not firing. At maximum intensity, she felt nothing, but what was going on? Blood tests were next, with my daughter having to give more than 13 vials of blood at one time.

Then on Nov. 24, 2020, we got the call that would forever change our world. Our daughter had tested positive for a rare neuromuscular genetic disease called Friedreich’s Ataxia.

To say our world was rocked would be an understatement. None of us had ever heard of this disease, much less understood what it meant. Our neurologist was wonderful and took the time to sit and talk and answer our questions. One in 100 people are carriers of this disease. As a carrier, which my husband and I apparently are, we do not show symptoms. For our middle child, though, having received a copy of the disease from both mom and dad, she expresses the disease and all its symptoms.

Much like ALS, but diagnosed earlier, usually between ages 12-15, Friedreich’s Ataxia slowly breaks down the nerves and muscles throughout the body. Every organ and part of the body is affected, except for the brain, and there is no cure. There was no treatment even for this disease until last year with the approval of the very first drug for Friedreich’s Ataxia that has been shown to slow progression. This disease is very rare. Our daughter is one of only 50,000 people with Friedreich’s Ataxia worldwide and one of only 4,000 in the United States. Despite the odds, we still have hope.

We hope and pray for a cure daily. We pray for more information and better understanding of this disease so we can help our daughter. We pray for all of those living with Friedreich’s Ataxia. And we are grateful that our prayers are heard, that even in our brokenness and despair, God has not left us. He remains right beside us, steadfast and constant in this sea of uncertainty.

So many times throughout this whole journey, I have been reminded of Exodus 14:14, “The Lord will fight for you, you need only be still.” 

As a parent, I want to fight this disease, I feel helpless and want to do something, but I also rest in the comfort of knowing that I don’t have to. The Lord will fight for my daughter, I need only be still and wait, patiently, expectantly, hoping and praying for the day my daughter is cured.

I am thankful that my daughter has a strong faith and knows how to lean on the Lord and trust in Him. She knows one day she will be cured and free of this disease, whether on Earth or in Heaven.  And taped to her door, where she sees it every day, is this verse, “God is within her, she will not fall.” (Psalm 46:5)  God is most certainly within her and with her, forever. She will not fall.