Stories

Living with TRAPS..I’m 78!

April 7, 2025

By Carol Griffith

I have been blessed with a happy life. My story is meant as a message of hope for all, but especially for patients with rare diseases.

As the youngest of six children born and raised in rural Vermont, I always knew I was different. At the age of nine months I was hospitalized for several days with an unexplained high fever. Throughout my life, I have experienced reoccurring, flares of high fevers, abdomen pain, vomiting, painful red rashes, muscle pains, etc.  I missed a lot of school, but luckily, I was a good student, and stayed on top of my studies.  When I was feeling well, I did all the normal kid things – I rode my bike, went to the community pool, skied, did sleepovers, went to camp, and more.  Early on my parents gave up on mainstream medicine and I saw a chiropractor.  I might add, no one else in my family exhibited any signs of illness.

Although it took me longer than four years, I graduated with honors from the University of Southern Maine with a B.S. in Business and Economics. When I married my husband in 1975, I inherited a fabulous family, including two stepdaughter’s. As years went on, we added a special son-in-law and entered grandparenthood with five beautiful grandchildren.

By this time, I was dealing with additional symptoms with my flares, including eye issues, (episcleritis marginal keratosis), trigeminal neuralgia, and episodes of hives. The stomach aches left me doubled over in pain in bed for two days or more. I also experienced many urinary track infections and a kidney infection. Somehow, I soldiered on.

At the age of 64, after a lifetime of struggling with my unknown chronic and sometimes debilitating illness, I was diagnosed at the Mayo Clinic in Scottsdale, Arizona with TRAPS. Tumor necrosis factor-receptor-associated periodic syndrome.  It is a very rare genetic Autoinflammatory disorder.  When  I receive the genetic results in April 2011, I wept.  I was validated and I finally had a name to all my bizarre symptoms. I’ve been hospitalized four times, and sent to multiple specialists –  including a trip to Boston, from Maine, where we live.  I endured a zillion tests – not always pleasant. There was never an answer, although I never gave up hope.  I was a mystery until the Mayo Clinic.

Carol with Muhammad Ali

My illness has not defined me, controlled my happiness and my life.  I decided early on to live my life, and I’ve chosen to take a positive approach to live well.  I have learned to adapt by focusing on what I can control – eating a healthy diet, exercising, learning to say “no”, seeking support from friends and family, and actively participating in decisions about which doctors to see in my treatment. For multiple reasons at this time, I have decided to stick with prednisone for my flares.

I also worked part time for decades, as needed, and when I was physically able for one of Maine‘s largest general contractors. I even worked at the 1980 Lake Placid Winter Olympics. Some fun and memorable life experiences come to mind: spending an afternoon with Muhammad Ali at his training camp in Pennsylvania; having a white knuckle glider plane ride in Peoria, Arizona, and a helicopter ride (upfront with the pilot) into the Grand Canyon; 1994 attendance of the NCAA final four in San Antonio, Texas; and lastly – making a cameo appearance in the filming at our home in Portland, Maine for the television show “America’s Most Wanted“. It was a reenactment of a story.

I have traveled extensively, including Alaska, and I’ve cruised the Panama Canal, walked the Great Wall in China, held a koala bear in Australia, and attended a family wedding in New Zealand. There are many more places I have visited and more on my “Bucket List”that I would love to visit.

I volunteered for many years for the Refugee Resettlement Center in Portland, Maine as an American friend and a tutor to new arrival families from Azerbaijan, Bosnia, Vietnam, and other countries. Many became part of our family.   I discovered, through volunteering that others have a very different kind of struggle. Somehow, my struggle seemed less significant then coping with the language barrier, limited employment opportunities, and adjusting to a new country and a new culture.  I learned that perspective really does make a difference.

Although any disease can be challenging, there is a silver lining in every cloud. Find gratitude and joy in your blessings.  Live life!!

Related

Living with a RARE Disease

Living with Brugada Syndrome

Brugada is insidious, especially for someone my age. It tends to “hide” in the ECG. Many times, it looks normal… but it isn’t. And with the myocarditis I had at the same time, it was even harder to get a correct diagnosis. The doctors didn’t know whether the findings were due to Brugada or to myocarditis. After my hospitalization, and after I suffered a fainting episode, it was finally decided that I should be implanted with a defibrillator (ICD). When it happened, I felt like life was given back to me.

Read more
Living with a RARE Disease

He Is Three. His Voice Isn’t Lost —It’s Waiting to Be Heard.

By the time a genetic diagnosis of a rare mutation in the PPP3CA gene finally arrived, critical months — even years — had slipped away. Milestones were missed while we waited for answers. Early concerns were minimized, and our pleas for help were too often brushed aside until delays became severe. That delay is not just a bureaucratic failure; it is lost opportunity — lost time for therapies that could have helped him build strength, communication, and independence.

Read more
Inclusion

Invincible Never Invisible: A Decade of InvisiYouth

I was competitive tennis player as a teen and was unfortunately injured in training, which resulted in dealing with an injury and neurovascular condition that changed the trajectory of my life. I was thrust into the world of living with a chronic illness, years of trying to find proper diagnoses and treatments, all while balancing life as a teen/young adult. During this entire young adult experience, my doctors would tell me “wait” till they could fix my health to live my life fully… I created InvisiYouth out of my love of philanthropy, and my newfound passion to giving a voice for the young adult population living with all chronic illnesses and disabilities for the non-medical aspects of their lives with health struggles.

Read more
Living with a RARE Disease

Beauty in Being Rare

Classical HCU is a condition in which my liver has a defective enzyme that is supposed to break down methionine. Instead, it builds up and turns into homocysteine, which is extremely toxic to your body. These elevated levels can result in blood clots, strokes, and other life-threatening complications. I follow an extremely restrictive low-protein diet—only about 10 grams of whole protein per day—alongside a methionine-free formula, the medication called betaine, and a cocktail of vitamins and supplements.

Read more
Living with a RARE Disease

We are the Heart of PPA2

Determined for answers, we asked for full exome sequencing to be performed. After an agonizing few months wait, we finally received a diagnosis in June 2023 – “PPA2 Mutation – Sudden Cardiac Failure”. Upon frantically searching the internet, we found that it was not only rare, but that the outcome was bleak. PPA2 Deficiency is an autosomal recessive mitochondrial disease that affects the energy production in the body. At the time of diagnosis, literature reported that there were 65 known cases with only 10 living individuals worldwide. There is no treatment or cure currently available for PPA2. In an effort to find more information, we came across a Facebook group for PPA2 that consisted of approximately 20 members from all around the world whom had family members affected. Today our group has close to 80 members, with 20 being individuals affected by PPA2 that are still alive.

Read more
Healthcare

Standing Up for Access to ERT: Upholding a Human Right

Something is very wrong with the fact that Evren needs a chair because he is too tired to stand, let alone join these boys in their ball game. I felt sick. I knew his strength was declining rapidly due to Acid Sphingomyelinase Deficiency (ASMD), his rare, multi-systemic lysosomal storage disease.That memory evokes the pain that those of us who have loved ones with a progressive, debilitating and life-threatening disease like ASMD feel when we must watch out loved one’s physical suffering and decline. The grief is all-consuming and spiritually and psychologically wounding.Fast forward to 2025. Evren has now been on an FDA-approved treatment enzyme replacement therapy (ERT) drug for two-and-a-half years, and his life has been transformed. With the improvements in his health from the ERT, Evren’s quality of life has increased dramatically, and we no longer carry the weight of wondering how much time he has left.

Read more
Living with a RARE Disease

A Letter from a Man No One Ever Understood

I’m not “just” mentally ill. I live with a rare, misunderstood neurological condition. But I also carry a sensitive, intelligent, perceptive mind that bursts with life when the world allows it. I’m not asking for sympathy — only to be seen, heard, and acknowledged. — I don’t simply need medication. I need an environment that understands me. Someone who sees that this constant fatigue, this emptiness, this numbness — is not laziness.

Read more
Living with a RARE Disease

You want to be filled with emotion?

Her condition — Charcot-Marie-Tooth disease — has been around for hundreds of years (if not longer) and so far, nobody has found a cure. Or even a treatment to lessen the pain and suffering CMT causes. But a bunch of us are trying. Where does all that research money go? Here are some examples: Studies designed to show that the treatment is interacting with its theoretical target, cost about $500,000. Also, at 500k, a study in which multiple nonhuman primates are each given a single dose — but at different strengths — to find the optimal dose. Then you have to do it again, but dosing the animals over time (rather than just given a single dose) and that runs $1.2 million.

Read more

Stay Connected

Sign up for updates straight to your inbox.

Sign Up

FacebookTwitterInstagramYoutube