Kayla Has Congenital Myotonic Dystrophy

Well, after 46 painstaking days of waiting for a diagnosis for our sweet little Kayla, we finally received word back from the doctors yesterday. Unfortunately, the news is not good. Kayla has been diagnosed with a severe form of Congenital (from birth) Myotonic Muscular Dystrophy. According to statistics, only 1 in 100,000 babies are born with this severe form of the disorder. As a general rule, the earlier the disease is detected, especially at birth, the more severe the symptoms will be. It is a multi system disorder that can affect many parts of the body. Most patients experience symptoms including muscle and respiratory weakness, mental and learning disabilities, heart problems, speech, hearing and vision problems, as well as issues with swallowing and processing food. The risk is very high that it could be life threatening especially during the first few months of life as her muscle weakness makes her more prone to respiratory failure, infections, and other ailments.

We feel that Kayla has been put on this earth for a reason and we are not willing to think about life without her right now. So far she has proven to be such a strong fighter that we have no reason to believe that she won’t continue to keep improving and teach us all about the fragility of life and its possibilities.

In the next few weeks we will be faced with making decisions regarding her long term breathing and feeding support including a possible tracheostomy and insertion of a gastrointestinal feeding tube into her stomach.

We will be meeting with the doctors this week to discuss these issues and what the future may hold for Kayla. If you would like more information about Congenital Myotonic Dystrophy, here are a few web links. http://www.mdausa.org/publications/fa-mmd-qa.html#whatis and http://www.myotonicdystrophy.org/General%20Information.htm

We are hanging in, thanks to everyone’s love and support. Please continue to keep Kayla in your prayers

Love,

Lisa