Saturday, April 14, 2012

Beginning with Knowledge - Part 3

Together We're Stronger

Our family has been affected by Myotonic Dystrophy, for many years. I've been wanting to blog about it for some time now, but didn't know how to begin. 

There is way too much information to cover in one post. So, to make it easier for me...and easier for everyone reading to understand, I have decided to break it up into a series of weekly posts.

As we travel this journey of learning together, I would like to think of this blog as a place where, if any others are affected, they too can offer comments and voice their concerns and suggestions on families dealing with this condition.

All comments and thoughts are my own. Resource information will be linked to it's source.

Our story-continued:
When our daughter, we'll call her Christin, was pregnant with her second child, she had several complications requiring complete bed rest for the final few months of her pregnancy. She seemed extraordinarily large, despite the small size of the baby she was carrying. Even though she was off her feet as much as she could, having another child at home, she still seemed to be carrying an excess of amniotic fluid. She was told to drink less, which she did.
Then unexpectedly her water broke at home and she went into premature labour. Her son was born after hours of labour,  by Cesarean section. He was  8 weeks early, weighing only 4 lbs 3 oz,  and kept on standby assisted breathing and given Nasogastric Tube tube feeding in the  Pediatriac Intensive Care Unit of our local hospital. He was too weak at birth to take a bottle. My  daughter pumped breast milk to give her son the best chance he had to fight infections with this precious milk, and for Christin to contribute to his well being. 

It was through the diligence of the medical team, having remembered Brian's symptoms at delivery, and now seeing similarities in his newborn brother, that alerted them to the fact that this may be a genetic disorder.

To learn more about this disorder, please go to Muscular Dystrophy Canada 

What are the different forms of myotonic dystrophy?

The adult form of myotonic dystrophy generally appears between the ages of 10 and 30 years. The severity of symptoms, the rate of progression and the degree if disability vary widely from one person to the next, even among members of the same family. In most cases, the disorder progresses slowly.

Congenital myotonic dystrophy, the most severe form of myotonic dystrophy, is always present at birth. Affected babies are born to mothers who also have myotonic dystrophy. When the father has myotonic dystrophy, his children are not at risk for the more serious congenital form. 

Babies with congenital myotonic dystrophy are very weak and floppy and frequently have problems with sucking, feeding and breathing. If they survive the newborn stage, they generally overcome their breathing and feeding  problems, but they are slow to develop language and motor skills and are often affected for life with difficulties in these areas.


The material provided on this site is designed for information and educational purposes only. The materials are not intended to be a self diagnostic and/or self treatment tool. I encourage you to use this information as a tool for discussing your condition with your health practitioner.


  1. Very informative and interesting post Kathy. I'm so glad you have decided to share your family's journey and raise the world's awareness of this little known genetic disorder. Keep up the good work and I look forward to reading more.

  2. Thanks so much for your feedback, Monica. This is a little known condition, mostly because it's self limiting. But also because so many people may have this and be un-diagnosed.

  3. Christin is very fortunate to have such a loving and compassionate family to support her and her children. Also , the information that you have compiled is not only informative but gives a whole new dimension from the perspective of other members of the family.

  4. This is certainly a disorder that affects the family as a whole. Thanks for your kind thoughts and words.