To help raise awareness of rare disease dyskeratosis congenita, Julian’s mom Mayra has kindly shared his journey through 4 stem cell transplants this Rare Disease Day.

At the age of 3, our son was diagnosed with a rare genetic disorder called, dyskeratosis congenita. We were really fortunate our search led us to the Jimmy Fund Clinic in Boston with Dr. Suneet Agarwal. During our initial visit, genetic testing was discussed, and Julian was tested.

We were told his only chance for survival would be a bone marrow transplant. After finding out about this one in a million rare disorder, I came across a group called Dyskeratosis Congenita Outreach, now Team Telomere. This group instantly felt like my comfort zone, and more like a family. It helped me get through my toughest times.

I also became involved with BeTheMatch through the Icla Da Silva recruiting organization. We held many stem cell donor recruitment drives at colleges, churches and special events in my hometown. I wasn’t only advocating for cancer patients but most importantly all rare communities.

For young patients like Julian, finding an unrelated matching donor offers the preferred first treatment option, but this can be especially difficult when searching for people from an ethnically diverse background. Unfortunately, it took years to find two compatible donors for our son, and they both declined.

Finally, we decided to move forward with stem cell donation and Dr. Agarwal suggested Dr. Myers at Cincinnati Children’s hospital. On May 23, 2020 we got the call about finding a compatible donor. This time, Julian was 8 years old and without hesitation, leaving everything behind (even our 6-year-old daughter), we traveled to Ohio in June 2020 to begin preparing for transplant.

We had no choice but to move forward, this was our time.

Stem Cell Transplants

We felt one chapter was finally closing and couldn’t wait for what we called a new beginning. Although, we didn’t expect to be on the longest, and scariest, gut wrenching roller-coaster of our lives.

Julian had a total of 4 stem cell transplants within a couple of months. Julian received his first transplant on July 17, 2020, from an unrelated donor who didn’t hesitate to proceed with donation, everything was moving along fast. Julian was doing great and suddenly he wasn’t. His body started rejecting the transplant.

The same situation occurred August 25, and October 4, 2020. During the second transplant, my husband and I started getting blood work done to possibly match our son. This was very alarming, we knew parents only match 50%, and could cause critical complications. On August 25, Julian received his dad’s stem cells, and they were ineffective.

We had no idea what to expect but hoped for the best. On October 3, I was in a room across from Julian donating my cells, this time around I was his donor. All the transplants were slightly different.

What scared us the most is not knowing what toll this will have on his body because rare diseases already face a lifetime of unexpected trials and adversity.

Julian began a different treatment called apheresis before receiving his third transplant. The apheresis machine separated the plasma and removed the antibodies that were causing rejection. He hated that apheresis drained him and made him feel sick. By this transplant we were on the edge, drained and trying very hard to keep ourselves together.

All of a sudden, Julian developed a fever and a rash. The medical team acted fast and nurses instantly came into the room to give Julian an injection to try and salvage his third transplant.

It just happened so fast, we were very petrified and told the doctor to please just save our son.

Unfortunately, no matter how fast the medical team acted they weren’t able to save the third transplant. We were already making plans for the fourth transplant. This time Total Body Irradiation (TBI) was going to be used.

On November 4 Julian received TBI. Right after he started experiencing nausea, vomiting and a major headache. He slept the entire day. Julian’s fourth transplant was on November 5, since TBI wiped out his bone marrow, Julian received his dad’s stem cells again.

On December 15, Julian was finally discharged. The entire medical team gathered down the hall to surprise him with a victory song. He finally made it!

Our wishes

Many people have asked us what kept us going, and in all honestly, we were so numb. I would constantly reach out to our Team Telomere group for motivation and that’s what helped me.

Our biggest wish would be for rare communities to have the same opportunities as those with other illnesses. We wish funding was more widely available for research to help us answer many unanswered questions that haunted us, possibly even find a cure.

Not many people realize that resources are very crucial for the rare communities – if we had more support available our son wouldn’t have had to go through so many unsuccessful stem cell transplants. It took us years of trial and error to get our son correctly diagnosed.

We had to travel from Miami to Boston and finally Ohio to seek treatment. We are very fortunate; we could do this but not many families can do the same.

RepeatDx is sharing this special guest blog as part of our involvement with Rare Disease Day, which is being celebrated on February 28, 2021. Make sure you follow our accounts on Twitter and Facebook, and show your support!

To learn more about dyskeratosis congenita read this blog and for some further considerations for stem cell transplants look at this blog.

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