©2018 by Acrodysostosis Support and Research  

Jillian's story

October 8, 2018

Hi, my name is Jillian and I have Acrodysostosis type 1.

 

Some health issues that I have with it are short height, small hands and feet, liver disease, learning disability, thyroid problems, a

 

nd my metabolism not being able to work properly because of hormone problems.

 

My diagnosis all started out when I was 10 years old and wrongly diagnosed with pseudopseudohypoparathyroidism. If your familiar with that disease you know that if a woman has it, she has a 50/50 chance of passing pseudohypoparathyroidism on to her child. It is a variation of the disease I was diagnosed with but can have very serious side effects.

 

So in February of 2017, my husband and I started doing genetic testing so we wouldn't pass this disease to our child. We did genetic test after genetic test, and none of them could find any trace of the disease in my DNA.

 

Finally in January of 2018 we did a whole exome sequencing and they found that I had Acrodysostosis, located in the prkar1a gene.

 

It was a very hard year. All my life people made fun of me about my small hands and feet, which is something associated with Acrodysostosis. Kids to adults pointed it out. I remember at my last job, a grown woman asking me for no reason at all if I was a freak because of my hands.

 

As an adult I learned to get over people's comments, until we started on the adventure to have a child. Suddenly after every failed DNA test I heard every rude comment as a comment to my unborn child. It broke me, and if it wasn't for my husband’s support during this time I don't think I would of made it though it. He was so supportive of me and helpful along the way.

 

Now I am able to embrace what I am and live a happy life.

 

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