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Home >> Patient Advocacy >> Patient Portraits >> Ashmar Family
Patient Portraits
Fabry Disease
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Fadel (75), Jacqui (51), Sabina (41) and Maya (10)
Quakertown, PA
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“There are times when I have felt guilty, wishing it was a trait you didn’t pass on to your children. But having Fabry disease can’t define us. It happens to be one component, but some days it doesn’t even come to mind.”
In 1984, when routine tests identified excessive protein in Fadel Ashmar’s urine, it was suspected he might have Fabry disease.
Although a kidney biopsy confirmed the diagnosis, little education was available at the time. Fadel and his other affected family members were left with mainly one way to learn more about Fabry—by living with it. Fadel had moved from Lebanon with his wife and six children. He grew to accept many symptoms linked to Fabry as the regular aches and pains of life. But some experiences, as his daughter Jacqui recalls, were merely too agonizing to endure.
"11 years ago my son couldn’t sleep at night and would describe excessive itching in his feet. Other times he would get up screaming in the middle of the night holding his stomach in pain. We called the specialists at NIH [National Institutes of Health] and I can remember being told that some of those were not symptoms related to Fabry. It’s difficult, especially with kids, to know what’s linked to this disease and what isn’t."
When the first Fabry clinical trial offered potential for treatment, Fadel was accepted to participate. He began traveling from his home in Allentown, Pennsylvania to New York City. He received weekly infusions of Fabry enzyme replacement therapy, or ERT, for seven years. Now 75, Fadel is the patriarch of a family in which Fabry affects nine people. 10 year-old Maya, Fadel’s granddaughter, is his youngest relative to be diagnosed. Maya has begun her own bi-weekly ERT infusions.
For Maya’s mother Sabina and her sister Jacqui—members of the “sandwich generation”—the health requirements of their children and father often overshadow their own needs. “We have the issue of blowing off our symptoms and not dealing with them because we are the caregivers. We are the moms.”
When we were planning our families, the genetics counselor we consulted told us not to have kids.
"I can’t imagine our life without them. We knew there was a 50% risk they would be affected [by Fabry]. But why not have children—anyone could be born with a disease. And having one disease doesn’t protect you from another. As a parent you can’t foresee what challenges your children might face. That part is left up to God."
Like many other females who have a father or son with Fabry, Jacqui and Sabina were told that women are mainly “carriers” of Fabry and therefore not symptomatic. Neither of the sisters favors the term carrier, “Either you have it or you don’t. And it feels a lot better to be recognized. Our symptoms do vary, but we are definitely all affected.”
In addition to hopes for more Fabry therapies to become available soon, Jacqui and Sabina would like to see a change to the way they are treated when they, or their loved ones, need immediate care.
"I don’t expect to walk into the Emergency Room and meet a doctor who knows about our specific experience, that’s just not realistic. But when you have a doctor who wants to remain ignorant about Fabry, it makes our world feel even smaller. The best kind of doctor is one who says: ‘Listen I have never met a Fabry patient, give me time to look it up, what information can you give me?’"
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