ONCE UPON A GENE - EPISODE 004 - Telomere More About It
Katie Stevens is a force in the rare advocacy world. She's the Executive Director of Team Telomere, a Global Genes Rare Foundation Alliance council member, an advocacy liaison to the Telomere Consortium and a NORD member leader.
EPISODE HIGHLIGHTS
Tell me about your son and where this all began for you.
Riley was diagnosed when he was 11 years old, back in 2012. I can look back now and see that he was sick and see all the markers and signs, but at the time we had very little idea that he was sick. When he was being tested, he had a blood draw, turned very blue a couple hours later around his lips and the doctor indicated that he needed to get to the ER. We found ourselves on the hematology oncology floor waiting to find out if Riley had leukemia or a bone marrow failure. That was our beginning.
What did the specialists say when they examined Riley?
His platelet levels, what clots your blood when you get injured, was 12,000 when a normal range is 150,000-450,000. His hematologist said it was either leukemia or aplastic anemia. He did a bone marrow biopsy and the diagnosis came back as aplastic anemia. We did a frontline treatment for aplastic anemia, which he didn't respond to. Riley's doctor had gone to a hematology conference called ASH (The American Society of Hematology) and saw a presentation on telomere link testing and inherited bone marrow failure. He ran the telomere test and Riley's results came back in less than the 1 percentile. Telomere is the end cap of your DNA and it works like the aglet of a shoelace. It keeps your DNA or shoelaces from unraveling. Most people are born with long telomeres and as you age, it shortens and you gray, get sick, age and die. Riley's telomere length was that of an 80 or 90 year old person at age 11.
Is this something that could have been tested for through a regular blood panel when he was a baby?
Riley has a different telomere biology disorder spectrum in the sense that he is unaffected at a point where a lot of kids show signs early on where they don't produce fingernails, they have lacy skin or have whites on their tongue.
When did you go into action mode when you got Riley's diagnosis?
There's two parts- being an advocate and being a mom and fighting for my child who was actively dying. I've always been research oriented and that's just my mode. I was definitely asking questions that the nurses and doctors may not have heard before. When the telomere length testing came back, I had to be the most informed because his doctor didn't have experience with it. We flew out to Camp Sunshine where we were introduced to specialists, and I had to move to Boston for Riley to be treated properly. We met with the transplant doctor in Boston and and also Seattle. Riley wanted to stay close to home, close to friends and family. We would be 6 hours away by car or plane, either way and Riley said he wanted to go to Boston. It's important for a patient to feel empowered in their decision making, so we went. Riley was put into the national marrow registry, his cells were transported by life-flight from Germany, he engrafted 32 days later, left the hospital and never went back to the hospital except for check-ups.
Did you find a match from the simple swab that anyone can do? And how do we do that?
Yes. You can go to Be The Match and Delete Blood Cancer and both are phenomenal to work with. Go online, sign up, they'll send you a kit, you swab your cheek and send it back. Don't sign up unless you're very willing to donate. Be willing to commit to that life-saving procedure.
What is your role with Team Telomere?
There are two staff members, myself and my assistant. Team Telomere was formerly Dyskeratosis Congenita Outreach. We changed the name to attract scientists and to make sure we were supporting all the telomere spectrums in the biology world. I was Board President at first, but they hired me to work for little and work hard. I love my job and while my child is better, I get to be a caregiver to this community in this science I understand on a path I walked. I'm very fortunate to have found my calling in a way that was not fortunate.
What is Team Telomere's goal?
We have three very dedicated programs- outreach, advocacy and research. The outreach is a care package program that let's people know when they're on their rock, on an island, in the middle of the ocean, that they have community. We send a care package to anyone no matter where they are in their journey. The care package includes a blanket, the clinical guidelines for treatment, books, a water bottle and some Team Telomere swag. On family days, I travel around the region to bring people together that normally wouldn't have known that there were other patients because of HIPPA. We work with institutions to host family days and bring families together. From there, we get people to come annually to Camp Sunshine. We travel to conferences and educate physicians and we fund research. We've funded $260,000 in the last 5 years to telomere research.
How has this changed Riley and your family?
Riley spent a quarter of his childhood critically ill and I had three little babies watching their oldest brother be sick. We had to separate for six months and you don't know the ripple effects of all that until you're on the other side of it if you're blessed enough to be on the other side of it. It's hard work, but I think while there's trauma, there's beauty in it and my other kids have a very deep appreciation for what is really important. They're kind, empathetic and giving and I think that came from watching it first hand. All in all, we're still together and in love.
LINKS AND RESOURCES MENTIONED
National Organization for Rare Disorders (NORD)
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