Dedicated to women and girls who carry x-linked recessive disorders

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Taylor, Candice, Jillian, Tina & Olivia

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Adrenoleukodystrophy Carriers

Katie

Adrenoleukodystrophy

I discovered that I was an X-ALD carrier at the age of 21. I will never forget the day that I found out because my family was preparing for my 21st birthday party later that day. After completing a blood test the week prior, my primary care physician called to tell me the news. I have a brother who is two years older than me and was diagnosed with ALD at age 14. He is now 38 years old and he has addison’s only as only his adrenal glad is affected. He takes Cortizone pills every day and leads a relatively normal life. My mother is a carrier and is asymptomatic. My aunt is a carrier and has mild symptoms. My husband and I have a six-year-old daughter. We went through IVF with PGD to have her. I hope to be a resource to other young women who go through a similar process.

Veronika

Veronika and her father

Adrenoleukodystrophy

I am a 19-years-old grammar school student from Slovakia and I have a father whom I have never seen walking in a healthy manner. Both me and daddy have the soul of a fighter. You should see him walking up the 8 stairs to our flat and you should hear him refusing replacement of the crutches by a wheelchair. As for me, I am fighting the disease in many fields. When our neurologist told us she had no hope for daddy after the onset of cerebral involvement, I took courage and wrote to the professionals around the world, receiving an advice on antioxidant therapy. When I found out that there is a newborn screening X-ALD test that essentially saves the lives of at least 35% of male patients, I contacted the Newborn Screening Center of our country and tried to convince them about the method (no success so far; carrying on). When I learned just how serious and wide the problem of rare diseases is, I organised an event at my school to raise awareness. I have the mind of a scientist and a dream of a medicinal profession and I would like to use both of these to serve the rare disease community. My thoughts whirl around newborn screening, rare disease diagnostics, reproductive methods for carriers and communication between the researchers, clinicians and patients. So let's just see how much can I do in a lifetime, cooperating with God by turning everything into good (Rm 8,28 ;-) ).

Karen

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Adrenoleukodystrophy

Hiya, I’m 49, I was diagnosed a carrier in my 20’s. About 10 years ago I had nerve conductions, and was told I had mild nerve damage in my legs. I have pretty bad back, leg & foot pain. I also tend to go off balance at times. I’m sure people think I’m drunk when that happens hahaha. I walk with a cane. I have sudden urgency with my bladder and bowel, and I do tend to wake a few times in the night to use the bathroom, but that could also be my age. I had really bad RLS [Restless Leg Syndrome], so bad that I would kick out. I didn’t even know when it would happen, a leg would just kick, always at rest time. I now take Amitriptyline and Co-Codemal for this, and the kicking has stopped. I find mixing the two drugs together works, as Amitriptyline on its own didn’t work. Someone on some site gave me that advice. I still get the odd night where my legs don’t feel comfortable, but it’s rare. Fatigue is a nightmare, I’m tired all the time. I should say, I also suffer with Rheumatoid Arthritis, so I do wonder if some symptoms crossover. Pain, fatigue, balance, RLS and incontinence seems to be the symptoms for women. To be honest, I think the medics are still learning themselves about women with symptoms. 

 If you or a loved one is a female carrier of an x-linked recessive genetic disorder, we encourage you to share your story. Sharing your story can help raise awareness of the many issues facing x-linked carriers and remind both the patient and medical communities of the urgent need for studies, treatments and other resources for female carriers of x-linked genetic disorders. Tell us why you are not "JUST A CARRIER."  

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