January 21, 2020

Patient’s premature aging symptoms tied to shorter DNA strands

By Colette Gallagher

At only 27-years-old, Morgan Cook recalls the days when she had an abundant amount of energy.

“I would lift weights. I would do cardio. I would – you name it, I would do it. I was a lot more active,” says Cook. “I felt like I was able to do more things with friends. I was able to keep up with anything and everything that was thrown at me, and I didn’t really have an issue with energy.”

Today, Cook is in the midst of accepting her new normal after being diagnosed with short telomeres syndrome.

According to her Mayo Clinic physician, Mrinal Patniak, M.B.B.S., short telomeres are regions present at the end of the DNA that help protect the DNA from premature shortening.

“Every time our cells divide, there is a potential for the DNA to shorten, and premature shortening could lead to cell death or defective repair,” says Dr. Patnaik. “This is most applicable to stem cells in the body. If they don’t have the telomerase apparatus, you’ll find that there is a premature shortening, cell death, and essentially, it leads to a premature aging symptoms.”

In Cook’s case, she had all of the classic symptoms of short telomeres ailments—decreased energy levels,  low blood counts, and hyperextensible joints (capacity to be stretched to a greater than normal degree).

Cook’s health journey started with a visit to her primary physician in Iowa who ran some tests and noticed her white blood cell counts were really low, even though Cook was feeling fine at the time. Her physician referred Cook to Mayo Clinic’s hematology department to uncover the cause of the low blood counts.

Dr. Patnaik, a specialist in blood disorders, invited Cook to participate in a study to examine several potential causes for her condition and to see multiple areas where it could be causing issues with her low blood count. As part of the study Cook underwent genetic testing, which revealed that she had short telomeres syndrome.

Diagnosis provides relief, plan for the future

Mrinal Patnaik, M.B.B.S.

“Once Mayo figured out the diagnosis it was a huge relief. It made me feel like this is real. It's not just in my head,” says Cook. “It may take a while to explain it because it’s pretty rare, but it’s something tangible.”

Today she takes weekly shots that help build up her white blood cell counts so she doesn’t get as sick as easily. “Every day is kind of different. I don’t have a great predicting tool to see how I’m going to do. Sometimes my energy’s fantastic and other times I hit a low point,” says Cook.

With the diagnosis in hand Cook took a realistic look at her life and what she is able to do. Although physically she doesn’t have the energy to work full time she is able to continue her passion for physical fitness by coaching others with their fitness goals.  

Another area of concern with this diagnosis was family planning. Dr. Patnaik referred Cook to a fertility specialist who discovered that the genetic mutation that causes short telomeres syndrome is dominant, meaning her child would have a 50% chance of having short telomeres syndrome too. According to Cook having this information is critical for her and her husband as they plan for the future and decide whether or not to have children.

Patience, monitoring, and hope

Cook admits it’s still a hard game of patience as Dr. Patnaik continues to monitor her symptoms.

“It's hard on the psyche. It's hard to know what may happen in a year or two years or three years, but having the comfort and the knowledge from Mayo Clinic and knowing I’m taken care of at all times is very awesome,” says Cook.

According to Dr. Patnaik the ultimate fix for Cook’s immune system would be a bone marrow transplant. Dr. Patnaik acknowledges that Cook still has a lot to endure as she looks at her future in managing this disease— from the timing of a bone marrow transplant to finding the optimal donor. 

Hope sprung up quickly for Cook when her sister was tested for the same gene mutation. Her sister tested negative for the gene mutation and turned out to be a good match as a bone marrow donor.

“We are extremely blessed in that aspect and it gives us a ton of hope because my sister’s healthy. She’s here. She is willing,” says Cook. “So we kid around that after the transplant, I’m going to owe her because she gave me some pretty good bone marrow, but it’s just an inside joke with the family. She’d do it in a heartbeat because she cares.”

Dr. Patnaik is also optimistic about exciting clinical trials underway and drugs that may come up for short telomeres syndromes. “We hope to provide them to hundreds of people like her who are yearning for this kind of multidisciplinary care,” says Dr. Patnaik.

Dr. Patnaik also connected Cook with a nonprofit support group for others who have short telomeres syndrome.  “It’s amazing now that I can ask questions when I need to through that group as well.  And without that, I think it would be really hard,” says Cook.

Cook looks forward to a day when she will be much stronger, more active and able to get back to her former self. “I feel like I’m on that right path and then as the years go by, we’ll know how to handle each new thing that arises,” says Cook.

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Tags: #Mrinal Patnaik, center for individualized medicine, Genetics, genomics, hematology, hyperextensible joints, low blood count, mayo clinic, Precision Medicine, premature aging, Rare diseases, short telemores syndrome, undiagnosed diseases

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