In 2002, my husband and I were blessed with our third child. As the first months went by, we noticed our son, Brandon, wasn’t progressing normally. When he was five months old, he had difficulty holding his head up and was not able to sit on his own. Our worst fears were confirmed when Brandon was diagnosed with an extremely rare genetic disorder. I left the physician’s office that day feeling so alone and wondering; what the future holds for my child? Physicians can provide a synopsis of the illness in regards to disease progression, life expectancy, and future medical care that may be needed. What a physicians often can’t provide is insight and empathy gained only through personal experience. This is where family support groups can help.
Shortly after my son was diagnosed with Allen-Herndon-Dudley Syndrome (AHDS) and found to have a mutation in MCT8, I received a call from the Greenwood Genetic Center asking if I would be interested in contacting another mother who had a son with the same diagnosis. I jumped at the chance to speak with her. We began corresponding via email and phone. Soon, I was asked if I would be interested in speaking with another mom whose son was recently diagnosed with AHDS. The three of us became close, sharing information and providing each other with a level of support and understanding we couldn’t get anywhere else.
In 2005, we were contacted by The University of Chicago Genetic Services Laboratory. They were planning to start offering testing for MCT8-specific gene disorders and asked if the three of us would be become patient advocates and head an international support group for this particular disorder. With help from The University of Chicago and the Genetic Alliance, we obtained the funding to launch the support group website for the MCT8 Organization.
Within weeks of launching our website e-mails started coming in; parents from all over the world were contacting us. Our biggest challenge was the language barrier. We have overcome most of this by creating a Facebook group for MCT8 disorders where we can all communicate and ask questions. When one can’t speak Spanish, you can bet another parent can. Many of the parents are even multilingual.
There are now 27 of us linked together. While it breaks my heart each time new parents join our group, I am glad they have others that can provide the insight and empathy they need. The MCT8 Organization is the platform for parents from all over the world to come together and learn how to cope with our special needs children. We exchange information on everything from medical equipment we find useful to new therapies that are being investigated. But most of all it’s become a place where we can say to other parents “you are not alone”.