Raising Awareness of Female Carriers of X-Linked Rare Diseases
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by
Ree Webster
Female carries of X-linked recessive conditions usually remain unaffected or only mildly affected, and for this reason, the few who do experience symptoms are typically dismissed or even ignored. However, a clinical study that informed a mother how she was experiencing the effects of being carrier, quickly prompted her to establish a non-profit to help others going through the same problems.
Trina Stelly lost her son, at the age of 17, to Duchenne muscular dystrophy (DMD)—a rare disease that primarily affects males. Stelly was made aware that she was a carrier of DMD, meaning it could have serious health consequences for her as well.
“When my son was first diagnosed, I was told carriers shouldn’t have any problems…
“But I just wanted to get a handle on it, and local care here in Louisiana—especially for a rare disease—is nonexistent. And there’s nothing if you’re a female carrier, so I knew that my local clinic would not order these tests.”
When Stelly was 34, she took part in a carrier study at Nationwide Children’s Hospital in Columbus, Ohio. As part of the study she underwent and MRI cardiac magnetic resonance imaging and was shocked to learn she had fibrosis affecting multiple areas of the heart. This meant she had to begin taking cardiac medication immediately.
In another case, Shellye Horowitz, 51, was diagnosed with hemophilia A, which like Duchenne, is an X-linked condition mainly affecting males. But also happens to affect thousands of women too. In fact, it’s one of 40 or so X-linked recessive diseases caused by a pathogenic variant in a gene on the X chromosome. In these conditions, only males who carry the variant are affected, while females with a second, nonpathogenic copy of the gene are usually unaffected or only affected slightly.
However, it’s not all that uncommon for women to also experience symptoms, except when they do, they are often dismissed or completely ignored by the medical establishment.
“I was born to a father with hemophilia, and got my diagnosis at age 45. But because of the misconceptions of what an X-linked disease is, women don’t get the proper tests to show that they actually do have hemophilia. Some of these women have almost died in childbirth and they know they’re giving birth to a child with hemophilia.”
Non-Profit To Help Females Affected By X-linked Recessive Conditions
In order to combat this problem, a nonprofit organization that advocates for females affected by X-linked genetic diseases was formed. The group, called Remember The Girls, caters to the families of women who are carries of X-linked diseases, the children of whom have a 50% chance of inheriting the mutation—regardless of the specific disease—and a 50% chance of not inheriting it.
About Remember The Girls Non-Profit
“Remember The Girls” is a non-profit organization dedicated to advocating for females impacted by X-linked genetic disorders, which are often overlooked in medical research and treatment.
These diseases, caused by mutations on the X chromosome, can lead to a variety of health issues in women, who were traditionally thought to be only carriers. Remember The Girls raises awareness about these conditions, supports affected women and pushes for more inclusive research. Through community support, advocacy initiatives, and educational outreach, the organization strives to improve quality of life, promote understanding, and drive advancements in treatment for females affected by X-linked disorders.
Taylor Kane, who established the group in 2017, is also a carrier of the X-linked condition known as adrenoleukodystrophy, or ALD. She explained that Remember The Girls has over 1500 members affected by 40 diseases and live in 30 countries. Of the 40 diseases, 10 or so are considered rare, whilst the rest are ultrarare, meaning they only affect just a few hundred people worldwide. Examples of these ultrarare diseases include Lesch-Nyhan syndrome, which causes children to self-mutilate, and Menkes disease, which causes seizures, failure to thrive, stunted growth, and intellectual disability.
Kane, who turned 26 in 2024, explained that she was only 3 years old when her father was diagnosed with ALD – a condition affecting 1 of 15,000 males – and she was also identified as a carrier. Talking to the Rare Disease Advisor, she said:
“My family was told that carriers are just that, females who carry these conditions and potentially pass [them] down to their future children. As I grew up, I started learning more about what it meant to be a carrier…
“Not only did I have a 50% chance of passing the condition down to my future children, including a 50% chance to a son, who would be very severely affected by ALD since it is a terminal disease, but also I might experience symptoms of the disease, despite the long‑held belief that we were just carriers,”
Kane noted that one of the biggest problems facing female carriers of X-linked disorders is the general belief that these conditions cannot affect women and girls, that it’s only their male offspring who can.
“That means decades have gone by where females were completely excluded from research. It’s really only in the last 2 decades where more researchers and specialists are learning that this isn’t the case, and that many females are impacted,” she said.
According to a 2024 study in the peer-reviewed journal Haemophilia, the prevalence of males affected by the disease at birth is 1 in 5000 for hemophilia A and at least 1 in 30,000 for hemophilia B.
“With a global population of 4 billion males and 3.95 billion females, there are over 1 million females predicted to be affected by hemophilia worldwide,” it said, “of whom most are likely not receiving timely or adequate care.”
Horowitz, 46-year-old sister was also diagnosed with hemophilia in 2022, despite having previously suffered heavy bleeding that was connected to the disease.
“Some women literally show up at emergency rooms saying ‘I’m bleeding,’ and they’re told ‘you can’t have hemophilia…
“Thankfully, once I found the right hematologist who understood women with bleeding disorders, I got phenomenally better. I’m now on prophylaxis. I take a factor VIII drug that replaces the proteins I’m missing.”
Horowitz praised the efforts of the founder, and everyone else who’s lent a helping hand to Remember The Girls:
“Taylor’s big gift to people with X-linked disorders is that she’s bringing awareness out there. What I really appreciate is her ability to unite disease states who are struggling with the same issues of access to diagnosis and care.”
