Rare disease patient hoping for answers
North County resident Ashley Walker suffers from X-linked myotubular myopathy
Tuesday, Aug. 3, was a huge day for Ashley Walker.
The Carlsbad resident participated in a Zoom conference call with Federal Drug Administration representatives. She shared her experiences and personal struggles with a medical condition plaguing her since she was born.
The federal panel took only testimony and did not provide feedback in what was billed as a Patient Focused Drug Development meeting. Yet, the session gave Walker hope that help is on the way, possibly in the form of gene therapy.
If that eventually involves participating in a clinical trial, the 32-year-old woman said she is ready and willing, despite the risks.
“My main focus is on these clinical trials that are coming,” she said in an interview Monday, Aug. 9. “I’m looking for something to try. I want to be that guinea pig. I want to be that lab rat. ... I am so down for that.”
In last week’s meeting, Walker was among about a dozen female X-linked myotubular myopathy patients who told their stories to the feds. The patients are members of the advocacy groups MTM-CNM Family Connection and Where There’s a Will There’s A Cure.
The disease, often identified by the acronym XLMTM, is a rare genetic neuromuscular disorder causing muscle weakness, difficulty walking and respiratory challenges in swallowing and breathing.
As described on the MTM-CNM Family Connection website, the FDA session was a platform for the patient community to share stories of how their lives are impacted by the disease and their hopes and priorities when it comes to potential therapies.
Walker said she and the other women had about five to 10 minutes each to talk about how XLMTM has affected their lives.
The opportunity was groundbreaking, Walker said. Since XLMTM is much more prevalent and damaging among males, the medical world has paid less attention to women with the condition.
“I’m not on a ventilator so in everyone’s mind, it looks likes you’re OK,” she said. “From the outside, I do appear OK. On the inside, I’m drowning and suffering.
“To just give somebody my story, and (have) them look inside my life — the different chairs I have to use, the different machines I use, (and) once again my struggle — and to actually have them listen, it means something.
“They’re going to show this to who knows who. They’ve going to have meetings about this and I’m a part of it. I’m really thankful for that.”
Walker said she became active as an advocate in the XLMTM community in part as a form of therapy to help her overcome the depression she experienced with the loss of her two twin sons due to the disease.
“I volunteered to be a part of the panel,” she said in an interview prior to the FDA event. ”I am trying to be involved as much as I can.”
For the first 20 years of Walker’s life, her physicians attributed her physical weakness to a form of muscular dystrophy.
During childhood, Walker said, she struggled to get up on her feet without reaching out for a chair or some other prop to push herself up and she occasionally experienced falls. While she underwent extensive testing in a children’s hospital, the results came back normal.
Around the sixth grade, she was diagnosed with muscular dystrophy, but was able to lead a fairly normal life and later stopped seeing doctors about her condition. As a young adult, she started working in retail sales at an outlets mall in Carlsbad.
“I had some falling but nothing major,” she said.
Then, Walker in 2012 gave birth to twin sons Alexander and Jayden who immediately experienced severe respiratory problems.
Genetic testing confirmed that their conditions stemmed from XLMTM passed down from their mother and they probably would not live long because of their vulnerability.
“I just remember feeling so defeated, so hopeless,” she said. “I felt like it was a cancer diagnosis. There was nothing we could do but comfort them and love them and just give them the best lives possible. ...
“They both eventually caught the cold that turned into the flu and eventually pneumonia. Their little bodies could just not get through it.”
The twins died at 14 months old, leaving their mother extremely distraught. In addition to becoming overweight, she began drinking heavily, causing pancreatitis. She had to have her gall bladder removed in an emergency surgery.
That led Walker to realize she had to overcome her smoldering anger over her childhood misdiagnosis and the loss of her boys and take personal responsibility for her own health even as she experiences deterioration because of the disease.
“I’ve been sober since, I would say, 2014,” she said. “I’ve just become completely focused on my health. I’m not in a wheelchair because I refuse to be in a wheelchair.”
Yet, Walker is physically unable to work and requires breathing assistance at night. She can’t be left alone for long because if she falls, it would be difficult for her to get up without help.
“I cannot walk more than 12 minutes when I should be able to walk 2 miles,” she said. “I feel like my body is deteriorating. Intellectually, I’m here but I feel stuck.”
Her situation motivated her to connect with the XLMTM community and to become an advocate on its behalf, leading to her participation in the upcoming conference with the FDA.
“It was probably the best decision I have ever made because I have met so many women, men (and) boys that are going through the same thing,” she said. “It’s been so comforting.
“So, I’m here today to be that advocate. ... I’m just doing everything I can to be part of a medical trial and to be a part of the community and raise awareness.”
Recently, Walker was ready to jump on a plane and go to Europe to participate in a trial for a therapy that could fight XLMTM. Her doctors, however, talked her out of what could have been an ordeal given her tenuous health. They encouraged her that such a trial should be happening in the U.S. soon.
“I know what I am now is not me,” she said. “I want to be me again.”
For more information, visit www.mtm-cnm.org and www.will-cure.org.
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