Nikki Rabold-Cowley

Sugar Free for Connor

I am going sugar free this September to raise funds and give SWEET opportunities to kids living with the challenges of muscle wasting conditions, such as Muscular Dystrophy.

In December 2016, my husband and I found out that our precious 5 month old little boy has Myotonic Dystrophy. Myotonic dystrophy (DM) is one of the most complex disorders known. The symptoms and disease progression can vary widely. The effects can be quite different even among members of the same family, so it’s difficult to predict just how much this disorder will affect our family. The condition is a genetic disorder affecting gene 19 and there is a 50/50 chance of passing the altered gene down from generation to generation. The disease symptoms tend to be more severe and occur earlier in successive generations with the congenital form of the disease being the most severe (meaning symptoms occurred at birth), with up to 40% of babies born with the congenital form never making it home. The most common effects of DM are muscle problems, including muscle weakness, trouble relaxing a muscle and muscle wasting that gets worse over time. However, the disorder can affect many other body functions, including the heart, lungs and gastrointestinal system. The disease can also cause problems with cognitive function, personality and vision. There is currently no cure for DM although new discoveries about the disease and how it can be treated are coming to light almost every day, but for the most part DM is not well understood by the general medical community.

After we initially found that I had passed this disease to our son, I felt it was important to inform as many family members as I could to try and prevent another family having to go through what we have been through. Unfortunately, after talking to my extended family it appears this has been a bit of a family secret and to date we know of  28 other affected individuals in my extended family spanning five generations. Some of my family knew about this disease in our family over 30 years ago. 

Since finding out about our sons condition my husband and I have felt the need to do something, anything to help find a cure for Connor and bring this disease into the spotlight.

This year our family and friends are teaming up and making a difference by taking part in Sugar Free September to raise funds and give SWEET opportunities to kids living with the challenges of muscle wasting conditions like Myotonic Dystrophy. 

Please support our efforts by making a secure online donation and posting a message of support.

Please help me to spread the word by sharing our story on your social media pages like Facebook and let’s smash our goal for MD!