A mother of three, Sheila Black was the first person in her family diagnosed with X-linked hypophosphatemia (XLH). XLH is caused by a mutation in the PHEX gene, which results in a form of dwarfism. People with XLH are often quite robust, but are prone to muscle and bone aches, and to fatigue from walking.
Deciding to have kids
When Sheila was pregnant with her first child, she was referred to a genetic counselor. At the time, genetic mapping of XLH was not as advanced, and the probability of Sheila passing XLH on to her children was not conclusive. Later research revealed that there was a 50% chance of passing XLH on.
Her firstborn, Annabelle, did not have XLH. Six years later, Sheila had her second child, Walker. As Walker was laying in his incubator, Sheila noticed a curvature in his legs, and informed the doctor that he has XLH. The doctor confirmed it the next day.
Fast-forward 2 years, Sheila had her third child, Eliza. “I chose to have her despite the possibility she would have XLH,” Sheila shares. Yet, Sheila admits to feeling uneasy, especially when she comes across the term “designer baby.”
“I can’t help suspecting that because of advances in genetic mapping, genetic testing, the sheer range of prenatal choices, chances are that in a generation or two, there will be no one in the world who has XLH, no one who looks like me or my children — at least not in the so-called developed world — and I don’t know how to feel about that.”
Sheila, Walker, and Eliza are all around five feet tall now, and Sheila has observed how this affects both her children. “Walker is more visibly disabled, which makes Eliza feels bad. She says sometimes she feels like a fraud because she has the same thing, but in her case ‘you almost can’t tell’,” Sheila explains.
The perception of others
Receiving looks from strangers is not uncommon, Sheila notes, and some do approach them to ask about their disability. Sheila has also gotten remarks from her relatives, and recalls a phone call from a relative a few years back.
“She said she wanted to apologize because she had always thought I should never have children, yet now that I did have three of them – three “beautiful children,” she’d said – she wanted to let me know she had been wrong.”
Sheila had never expected that her decision to be a mother would be something people thought about, or even judged her for. However, she shares that she “eventually understood that for an abled person — a person who considers herself “normal” — it is probably difficult to imagine taking the risk of passing on what is considered by most to be a fairly significant disability.”
As a mother, one of the hardest things to experience is seeing your children in pain. “Pain — both physical and psychic — is a part of my two younger kids’ daily experience, and it is the part that is hardest for me to get over,” Shelia admits. However, regardless of their physical abilities, her children have their own ups and downs just like anyone else.
Walker may have his tantrums, but he “is in every conceivable way an engaging personality. He has friends, wild schemes for the future, a wicked, deadpan sense of humor.” Eliza struggles with anxieties, but she is an active teenager who loves singing and doing cartwheels. Both Walker and Eliza are also into sports – Walker enjoys riding cycling, while Eliza does yoga. “Both of them pursue these physical activities with fierce and single-minded passion,” Sheila shares. Her eldest daughter, Annabelle, is similarly finding her way in adulthood and in life.
Perhaps her children might make errors, or stumble while finding their way, like Sheila did growing up, but it is all part of the process of life. XLH, or any disability, has little to no bearing on these potential mistakes. In fact, when asked about how they felt about being born with XLH, Sheila observes that “both [Eliza and Walker] spoke of the disability as almost, though not quite, a gift.”
“It has made me not fit in, but it has taught me empathy,” shares Eliza. Walker, on the other hand, says: “I am sometimes bitter about being so short, and about the pain, but I am very glad to be alive.”
Because, after all, life is more than your disability.