When I was three years old, my dad was diagnosed with a rare, X-linked disease called
Adrenoleukodystrophy (ALD).
ALD is a neurological disorder that destroys the white matter in the brain, causing severe disability and ultimately death.
Because ALD is an X-linked recessive condition, it typically manifests most severely in males. Like most rare diseases, there is no effective treatment, but boys and men with the condition can undergo a stem cell transplant if the disease is caught early enough with the hope of stopping the disease from progressing.
Unfortunately, my dad’s condition was diagnosed too late. At the time of my dad’s diagnosis, I was identified as an obligate carrier of the disease. To explain without delving too deeply into genetics -- biological females have two X chromosomes, while males have one X chromosome and one Y chromosome. When a man has children, he passes his Y chromosome down to his sons, and his X to his daughters.
Thus, the son of a man with an X-linked disease will be completely free of the disease; his daughter will have the disease-causing mutation on one of her X-chromosomes. Her other X chromosome, however, which is inherited from her mother is healthy, making her a “carrier” of the disease.
Back in the early 2000s when my dad was diagnosed, it was well understood that female
carriers of X-linked disorders had a 50% chance of passing the defective gene to any children
they might have. It was also believed that female carriers would be spared from any physical
symptoms of the disease, since they had a healthy X chromosome to “override” the mutated
one.
My family, therefore, felt blessed that I was “just” a carrier of ALD and would not face the same fate as my dad, who suffered tremendously and passed away just two years after his diagnosis.
Today, while it is very unlikely that female carriers will die from complications related to ALD,
evolving research (which has finally begun to focus more on females) has shown that women
with ALD and most other X-linked diseases are not “just” carriers. To the contrary, many will eventually develop symptoms of the disease (with ALD the number is more than 80%) -- largely in part due to a unique biological phenomenon known as X-inactivation.
Still, despite this discovery, women continue to be essentially viewed as men with less severe symptoms - a highly inaccurate label, given that biological males and females differ at a cellular level in every part of the body and therefore exhibit different disease presentations and responses to medications and treatments.
Don’t get me wrong, I know I am lucky I have that extra healthy X chromosome.
Having two X chromosomes gives biological females, like myself, more genetic diversity and stronger immune systems than males. Females also have a survival advantage given that they are more likely than their counterparts to survive under extreme conditions, from infancy to seniority.
Still, this feeling of luck often evades me when I am automatically assumed to be “just” a
carrier. Growing up, I was constantly reassured by healthcare professionals, family members,
friends, and strangers that being a carrier wasn’t all that bad. I understand these comments
were well-intentioned, but there is nothing fortunate about being a carrier of ALD.
On top of the high likelihood that I will eventually develop symptoms such as bladder and bowel dysfunction, neuropathy, dystonia, and walking difficulties, to name a few, I also have to cope with the fact that I carry a genetic disease which I could pass down to my future children.
Personally, I feel grateful to know of my carrier status before having a family, which is
unfortunately not the case for carriers of many X-linked diseases. Regardless, many family
planning options for genetic carriers who wish to have healthy, unaffected children often
remain inaccessible -- with one round of in vitro fertilisation with pre implantation genetic
testing (IVF with PGT) costing up to $25,000 in the United States. Many insurance companies
will not cover alternative reproductive options for genetic carriers, as they view the desire to
have a healthy family as ethically controversial.
The concerns of women and girls are often an afterthought in healthcare, and the stigma X-linked carriers experience is just one small piece of the pie when it comes to gender bias in medicine.
Despite the fact that studies show that many females who “carry” X-linked diseases
develop symptoms, they are still relegated to the outskirts when it comes to research,
treatments, and clinical trials. Most practicing physicians were taught in medical school that
genetic disease carriers are asymptomatic, no questions asked. Indeed, many medical schools are still teaching that today.
It also doesn’t help that women’s pain has historically been ignored by medical professionals and attributed to mental health issues like depression,
anxiety, and neuroticism.
To address the issues carriers of X-linked diseases face, I founded Remember The Girls in 2017.
Remember The Girls is the first and only nonprofit organisation dedicated to uniting and improving the lives of females impacted by all X-linked conditions.
In the last four years, Remember The Girls has grown into an entirely female-run organisation supporting over 850 X-linked carriers around the world. We are collectively fighting to end the stigma we face as genetic carriers, and to demand proper medical care for our symptoms and access to affordable family planning options.
Women in the rare disease community -- carriers, patients, and caregivers alike -- must continue to speak up and demand to be heard. More importantly, stakeholders in the healthcare community need to be cognisant of the value of prioritising women’s health.
Blog post written by Taylor Kane
More information about Taylor and Remember The Girls can be found HERE
If you would like to submit your voice to the RARE Youth Revolution, please email our youth coordinator, James Brooks: jbrooks@rarerevolutionmagazine.com
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