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My rare genetic disorder needs treatment options

 

Last updated 9/2/2021 at 1:27pm

Village News/Courtesy photos

Ashley Walker and her husband, Johnny, hold their twins who were born prematurely in May 2012.

Ashley Walker

Special to the Village News

I dreamed of becoming a mom from when I was a little girl. When I met my husband, Johnny, we both knew we had found our soulmate and felt ready to start a family together. We were ready for changing diapers, midnight feedings and singing lullabies for hours on end. But having children would turn our lives upside down more than anyone could predict by introducing the term "X-linked myotubular myopathy" (XLMTM) to our vocabularies.

When Johnny and I found out that I was pregnant with twin boys, we couldn't have been happier. Despite having been diagnosed with limb-girdle muscular dystrophy as a child, I felt confident that we would do a great job raising the boys – even if they inherited the disease from me.

Up to that point, the disease never stopped me from living my life. I had trouble getting up off the floor in school but was able to get help from teachers or pull myself up using nearby chairs and tables. I loved spending time with friends, swimming and working at clothing stores when I was a teenager.

Like many moms of twins, I went into labor before my due date. Doctors told us not to panic even after the boys had trouble breathing and eating after birth.

"Premature babies have a tough time sometimes," we were told. "They will get better as they get closer to their due date."

Months passed by and Jayden and Alex got bigger, but their health was not improving. By the time they were 7 months old, they still needed constant medical care. We decided to have tracheostomy and gastronomy tubes placed in both boys to help them eat and breathe more effectively.

We knew this wasn't "normal" for preemies. Doctors decided to run a full genetic testing panel on me to determine the underlying cause of their complications. Nine months later, Johnny and I were devastated to learn that both of our sons had XLMTM. The test showed that I, too had XLMTM – my muscular dystrophy diagnosis as a child was made in error.

I have done countless Google searches in my life, but none of the results crushed me more than those I saw after typing "XLMTM." The condition is a rare genetic disorder that causes muscle weakness. It can lead to difficulties with walking, breathing and swallowing. XLMTM is usually seen in males, but females like me can also be symptomatic patients.

No approved treatment options are available so patients rely on symptom management methods as the disease progresses. Our sons weren't expected to live past their third birthday.

After recovering from the shock of diagnosis, Johnny and I realized just how precious our time with Alex and Jayden was. We spent countless hours in the hospital with them and made sure we documented everything we could with pictures and videos. Santa paid them a visit for Christmas and they were dressed up as Winnie the Pooh and Tigger for Halloween. We sang "Happy Birthday" to them when they turned a year old and ensured that we spent as much time together as a family as possible.

Shortly after the twins' first birthday celebrations, the unimaginable happened. Both boys caught a cold that quickly turned into pneumonia. Their already-compromised respiratory systems left them unable to fight off infection. They passed away within hours of each other on July 11, 2013, at exactly 14 months old.

Jayden and Alex Walker are dressed up for Halloween, 2012.

My husband and I coped with the loss of our sons focusing on my own battle with XLMTM. My condition had progressed quite a bit since becoming pregnant with Alex and Jayden. In recent years, it has become challenging for me to get out of bed and walk around the house. I have also started using a BiPAP machine to help me breathe at night. I notice that swallowing food has become increasingly difficult and I've started making changes to my diet because of this. I live with the constant fear of catching a cold and becoming severely ill like my boys did.

XLMTM has lowered the volume of my voice, but I am determined not to be silenced and will share my story with anyone who will listen. I feel that it is my duty as a mother to keep Alex and Jayden's memories alive by sharing our family's story.

By sharing our experience, I hope to raise awareness of the urgent need for treatment options to be made available to the XLMTM community. I am confident that one day, no other family will experience what we did.

If you would like to learn more about XLMTM, visit:

· http://www.mtm-cnm.org/

· https://www.will-cure.org/

· https://www.joshuafrase.org/

Ashley Walker and her husband live in Carlsbad, California.

 

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