To mark Telomere Biology Disorder Month (TBD Month) this November, Mark is kindly sharing his journey of being diagnosed with dyskeratosis congenita, liver failure and undergoing a liver transplant.
My journey with dyskeratosis congenita (DC) started in September 2016 when I was first diagnosed. I had become pretty sick in a short period of time, and ended up in the hospital.
While in the hospital they found that my lungs weren’t working very well. The doctors weren’t sure why at first, but then had noticed some of my liver numbers were way off. After some more tests and biopsies it was found that I was in full blown liver failure, and I had a condition called Hepatopulmonary Syndrome (HPS).
They told me I immediately needed to stop working and be on oxygen full time. I worked in a shipyard, this was a totally crazy idea for me, but I didn’t have much of a choice. I stopped working and was attached to a long hose so I could walk around the house and still get my oxygen. This was the worst thing ever for me.
Come December, I went in for some more testing. This ended in the doctors telling me that I had roughly 6 to 9 months to live if I didn’t receive a liver transplant. We started the process of trying to get listed here in San Diego where I live.
That process was painful and after the whole thing, UCSD decided not to list me, stating that my case was too high risk and it had never been done to someone with DC. The had basically told me that there was nothing they could do but “monitor me”.
I had an awesome pre-transplant nurse who fought hard for me. She got us a meeting with the Director of Transplant Surgery. After a lengthy meeting where he got to meet me and my family, he decided to list me. The only downside was it was a 2 to 3 year wait!
My doctor told me to start looking at other states on the east coast because they have different MELD score lists. We looked at the Mayo Clinic Jacksonville, and Ohio.
Ultimately, I ended up at Mayo Clinic Jacksonville. We flew out in April 2017. I went through all the testing again. By then I was in pretty bad shape. I was about 5 months into my 6-9 month time frame. After all was said and done, they decided to list me. There was still a 3-6 month wait time.
We flew home. I got everything in order. I didn’t think I was going to survive this thing.
I flew back out to Florida on May 15, 2017, and was activated on their list on May 22, 2017. We waited, and waited. Every time the phone rang the house would go silent, hoping it was that call.
Finally, on June 2, 2017 it was the call we had been waiting for. We packed up and went to the hospital. It is a tireless process to get ready for transplant. The waiting, showering, cleaning, waiting. I was finally told that the liver was good and I would be going into surgery around 8pm.
I made a few phone calls, and talked to my wife and kids in San Diego, then I was wheeled into the surgery room. There were about 20 people in there. They all introduced themselves, and some even cracked jokes to put me at ease.
I woke up in a recovery room with my dad there, everything hurt like crazy. There was a complication where the new liver wasn’t working. All the doctors were worried, but then after a few hours my numbers slowly started coming up. Within a day it was all perfect numbers!
After about 45 days in the hospital, I was able to go home. I couldn’t fly so we rented a van and drove from Florida back to San Diego.
My HPS was still pretty bad, but after about 6 months after transplant it just was better in one day. I went from sats in the 80s with oxygen, to sats in the high 90s overnight! That meant no more oxygen!
I am now 3 ½ years post-transplant and back to work full-time as a pipefitter onboard US Navy ships.
It was a long road to recovery, and I still have bumps in the road, but I am here and doing better than anyone would have ever thought.
Telomere Biology Disorder Month
RepeatDx is sharing this special guest blog as part of Telomere Biology Disorder Month, which takes place every November. Make sure you follow our accounts on Twitter, Facebook and LinkedIn and show your support!
This blog was developed in partnership with Team Telomere, which is a global community focused on supporting families in their battles with Telomere Biology Disorders.
You can find more information on Telomere Biology Disorders and how they can impact different parts of the body in this video produced by Team Telomere.