When your child is living with a rare disease, it can feel like the ground beneath you has completely shifted. One day you are planning birthday parties, school activities and everyday routines. The next, you are sitting in doctors’ offices hearing words you have never heard before and trying to understand what they mean for your child’s future.
For parents of children living with mitochondrial diseases like thymidine kinase 2 deficiency (TK2d), that isolation can be overwhelming. You may be surrounded by people who love you, but still feel deeply alone because very few truly understand what this life feels like.
Why support groups matter
I remember when my son was first diagnosed. At the bottom of the paperwork was one phone number for the United Mitochondrial Disease Foundation (UMDF). I managed to leave a voicemail through tears, still in shock from hearing that my infant had TK2d, a rare mitochondrial disease affecting his ability to eat, move and breathe.
I will never forget the call back I got from Ms. Margaret Moore. She returned my call with urgency, kindness, compassion and patience. She did not have a cure for my son, but what she gave me in that moment was something I desperately needed: hope and human connection. Ms. Margaret became a lifeline during one of the darkest moments of my life. Through her and UMDF, I found advocacy resources, education, awareness, and most importantly, a community of other families who understood what I was carrying.
UMDF did more than connect me to support groups. They amplified my advocacy efforts and placed me in rooms I could have only dreamed of being in. They cared deeply about the patient voice and the importance of others hearing it. They reminded me that our experiences mattered and that our stories could help create change for future families. Support groups provide something that doctors, hospitals, and even the most loving friends sometimes cannot: understanding from people who are living this life too.
Learning about TK2d
Because it is so rare, many families spend months or even years searching for answers before receiving the correct diagnosis. By the time many parents finally hear the name “TK2d,” they are emotionally exhausted.
For families learning about TK2d for the first time, support groups can become a valuable source of education. Connecting with rare disease communities can help parents understand the condition in a way that feels less overwhelming than medical terminology alone.
Practical advice from other families
In support groups, families often share the kind of practical advice that can make daily life easier. Parents talk openly about feeding tubes, ventilators, wheelchairs, physical therapy, home nursing, school accommodations, genetic testing and specialist referrals. They share what helped during hospital stays, how to prepare for seasonal illnesses and how to navigate insurance and medical equipment companies. With rare diseases like TK2d, no two children are exactly alike, which is why hearing from other families can be so valuable.
Finding emotional support
Just as importantly, support groups remind parents that they are not alone.
There are days in rare disease life that feel impossibly heavy. Days when you are exhausted, scared, angry or heartbroken. In those moments, sometimes you do not need advice; you need to hear someone say, “I understand” or “We have been there too.”
Over time, the support you once needed becomes the support you are able to give someone else.
Looking toward the future
Support groups also create hope. Parents can see older children thriving, hear about new treatments, learn about clinical trials, and stay informed about research developments. For families affected by TK2d, support groups can help them learn about treatments like Kygevvi, the first FDA-approved treatment for TK2d.
In my son’s case, he was blessed to be part of that clinical trial. The day the treatment was approved, one of the first people I thought about was Ms. Margaret. I thought back to the day of my son’s diagnosis, to the tears and fear I felt when I first heard her voice on the phone. It was a full circle type of bittersweet moment. This time, the tears were different, ones of gratitude. After years of uncertainty and fighting, hope had become something tangibly real.
You do not have to do this alone
No family should have to navigate a rare disease journey completely alone. Joining a rare disease support group can provide connection, education, encouragement and strength when you need it most. When rare disease life feels isolating, finding your community can be one of the most important and life-changing steps you take.
A list of organizations with information and support for families and patients impacted by TK2d is available on TK2d Companion’s links and resources page.
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