X-Linked Hypophosphatemia: A Woman’s Discovery Changed Her Family Members’ Lives

33 year old Emily Helm from Brandon, Mississippi, had always learned that many of her family members on her father’s dealt with bone weakness, joint problems, and pain. It was just considered part of their lives and that was it. In November of 2017, her daughter Ila was born. As she began to stand at around eight or nine months she noticed that her legs were bowed, so at the twelve-month check-up she decided to ask her doctor about it. While the doctor initially dismissed her concerns, this moment would be the beginning of a journey that would lead Emily to discover that X-linked hypophosphatemia (XLH) was both the cause of her daughter’s bowed legs and of the family’s history of bone/joint weakness and pain.

About X-Linked Hypophosphatemia

X-linked hypophosphatemia (XLH) is a genetic disorder. It is considered a type of osteomalacia that is distinguished from other types because vitamin D cannot cure it. Osteomalacia is characterized by the abnormal softening of bones which can result in a bow-legged appearance and stance. The disorder is linked to mutations affecting the PHEX gene sequence found on the X chromosome. Symptoms of X-linked hypophosphatemia include soft bones, bone pain, osteoarthritis, teeth problems, and hearing loss. Treatment may include burosumab (as of 2018), or calcitriol, phosphate, human growth hormone (HGH), and surgery to correct bowed legs or other bone deformities. The prevalence of this disease is about one in every 20,000 people. To learn more about X-linked hypophosphatemia, click here.

Emily’s Story

As time passed, Ila’s bowed legs seemed to only worsen, so Emily mentioned her concerns again at the 15-month check-up. This time she was referred to an orthopedist. However, Emily was curious and before the appointment, she continued to search the internet for symptoms that resembled Ila’s. Emily herself had to undergo several surgeries growing up and at one time believed that she had the hypermobile form of Ehlers-Danlos syndrome.

Eventually, someone commented on a picture of Ila’s legs with the term ‘genetic rickets.’ From here she encountered X-linked hypophosphatemia and several advocacy group websites (XLH Link, XLH Network). From seeing images of other patients, Emily soon started to suspect that this was what was affecting Ila and over 20 other family members.

“I guess not a lot of our family really talked about the issues that people were having and nobody had ever connected the dots.”

As it turned out, one of her uncle’s specialists had also suspected that he had X-linked hypophosphatemia at around the same time. From here it would soon become clear just how far-reaching the impact of the disease was in Emily’s family. Now, for the first time, many of them are receiving effective treatment. As a lifelong disease that progressively worsens without treatment, this will have a major impact on their quality of life.

“I’ve got uncles and an aunt who have a tough time bending over because their hips and spine have calcified.”

Treatment has also helped restore normal development for Ila, who no longer has bowed legs.

Emily’s family had a milder mutation so one of the most prominent symptoms, short stature, wasn’t present, as many of Emily’s uncles that tested positive were over six feet tall, which could have made diagnosis more tricky.

“The main piece of advice I have someone who knows they have something but they don’t know what is to just not give up. Keep searching and seeing different doctors and getting second opinions…advocate for yourself and continue searching for those answers.”

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