Guest blog: Mike shares his experience with dyskeratosis congenita for Rare Disease Day

Mike shares his story with dyskeratosis congenita to mark Rare Disease Day

To mark Rare Disease Day, we have a guest blog from Mike who is kindly willing to share his experience with familial dyskeratosis congenita. 

Hello, my name is Mike and I have a rare disease. It is called Dyskeratosis Congenita (DC) and it runs in my family. My father and my uncle (his twin) had it, two of my 4 brothers have/had it, and 3 of my cousins have it. Of my two children, my daughter also has it.

DC is known as a Telomere Biology Disorder (TBD) and at a basic level causes premature aging of cells due to short telomeres. This results in increased likelihood of developing failure of blood and bone marrow, fibrosis of lung or liver, and cancers of organ systems with high cell turnover, and causes other issues ranging from eye or tear duct problems to early greying of hair. Symptoms can be outwardly visible or discovered through medical testing and can first become apparent over a wide span of age, from infancy to adulthood.

Due to the prevalence of DC in my close relatives, our extended family became part of an NIH cohort. My extended family was tested for short telomeres and for those affected our genetic mutation was eventually identified (TINF2).

My personal confrontation with this disease did not occur until most recently, whereby at age 45, I rapidly developed Pulmonary Fibrosis (PF). I was diagnosed with PF in January 2019. Although I did not have fulminant bone marrow failure I was followed by a Hematologist since my DC diagnosis. In December 2018, I switched my Hematologist to one with more expertise and training in DC and TBDs. Fortunately, they referred me for evaluation to a medical center running a protocol for those in need of a lung transplant and (likely eventual) stem cell transplant.

By April 2019, four months after my PF diagnosis, I required supplemental oxygen, then in June I needed higher amounts. I could no longer walk up stairs without becoming short of breath. By August I became quite intolerant to being mobile, or even to stand more than a few minutes at a time.

Fortunately, in September, I was accepted to be listed for lung transplant. On October 5 my right lung collapsed and I developed pneumonia and was hospitalized. One week later, on October 12, 2019, I underwent a successful double lung transplant. I remain so grateful for the chance to breathe again and live, and be granted more time with my children and other loved ones.

And, although I am not free of DC, I have hope that through advocates, physicians and researchers, and awareness and accessible screening methods, one day more effective treatments and perhaps a cure will be found.

RepeatDx is sharing this special guest blog as part of our involvement with Rare Disease Day, which is being celebrated on February 29 2020. Make sure you follow our accounts on Twitter and Facebook, and show your support! To learn more about dyskeratosis congenita this Rare Disease Day, check out this blog

This blog was developed in partnership with Team Telomere. Team Telomere is a global community focused on supporting families in their battle with dyskeratosis congenita and related Telomere Biology Disorders.