I had an unsettling dream last night. I dreamt that an extended family member asked me to put a presentation together for a big event. A few minutes before the event started I asked this family member what the topic was that I was supposed to present on. They exploded. “Did I not have my presentation ready?” “Fine,” they said, “I’ll just get someone else to do it.” They didn’t know that I felt confident in my abilities and I wasn’t worried at all. But they didn’t bother to ask if I felt ready, they just stormed off. I felt very misunderstood.

It was interesting the feelings that this dream stirred up in me. My dream reminded me of the multitude of times that I had not done things the way that others wanted me to. I wanted to be the way that others wanted me to be, I really did. But, because I had so much overwhelm caring for my family’s unique needs and, more often than not, showing up late for events I’m sure that I came across as uninterested in the desired outcome. For more than 20 years of our married life I didn’t have a diagnosis for my family. Therefore I had no words to use to explain why we were either late or disheveled when we went to family events. I just knew that I was trying, as were my husband and children.

From the outside I am sure that we looked uncaring and detached. I’m sure that I and my family were frustrating to others. OMG, we were frustrating to ourselves. I could sense that we were always a disappointment. This caused feelings of shame. The longer time went on the more we avoided extended family and community activities. Therefore the more isolated we became. The isolation added to the feelings of shame.

 

Even after the diagnosis there was quite a while where the name of this new disease didn’t give us any understanding. My family was diagnosed in 1998 and very little was known about the behavioral effects of Myotonic Dystrophy (DM) back then. We knew that DM was the cause of our third child, Michael’s, speech issues. We knew about anticipation, the fact that DM almost always gets worse in the next generation. We also understood that DM caused sleep issues and fatigue. Now we had a little understanding about why we were always running late.

 

With the name of our disease and the fact that it usually gets worse in the next generation we knew that we had to tell the rest of the family about our DM. We were surprised when there seemed to be little interest in understanding DM and even more perplexed when there seemed to be no interest in finding out if there were other family members with it. The grandparents weren’t interested in finding out whether it came from their side of the family. There just seemed to be a lot of denial. I eventually found the article that is listed at the end of this post. We shared this with extended family. It still didn’t help the acceptance of the diagnosis, but at least we had done what we could to educate them.

 

We had already become quite isolated from extended family but over the next couple of years there became no interaction with any of the extended family. It felt hurtful. They were probably hurt too. But, this separation gave us time to create a new community for ourselves, especially with other DM families.

 

Initially the only support groups and conferences that I could find were in California. I started taking my children to these. Because my husband Kent had late adult onset of DM1 he didn’t have the fatigue that our children had. Therefore he was still in denial about DM and the way that it effected him and our children. He wasn’t interested in the conferences. But, Michael, Chad and I felt right at home in these conferences. Finally we were understood. The meetings didn’t start early in the morning and when my kids fell asleep under the table no one gave us weird looks.

 

HOW TO TALK TO FAMILY MEMBERS ABOUT DM by Dr. David Hilton-Jones MD FRCP FRCPE

You have been given this information sheet because a relative of yours has been diagnosed as having DM. This is an inherited condition and because of your family relationship it is possible that you may also have inherited the faulty gene that causes it. If your affected relation is one of your parents, a brother or sister, or one of your children, then there is a 50% possibility that you might have the abnormal gene. DM varies enormously in severity. Some people who inherit the gene may have no symptoms – so why worry about it? The reason is that sometimes there can be serious consequences even for people with no obvious symptoms, and that many of those consequences can be avoided given adequate knowledge. The main problems associated with DM are listed in the table below – any of these can be the first sign of the condition.

Three issues are of particular importance to those who unknowingly carry the abnormal gene that causes the condition:

  • Anesthetic Problems: People with DM have an increased risk of problems with anesthetics. These can be prevented if the diagnosis is known and taken into account when an anesthetic is planned.
  • Heart Problems: The electrical system of the heart, which is responsible for controlling the speed of the heartbeat, can be affected even when there are no other symptoms. In some people this can cause dizzy spells and blackouts, but a problem with the heart rhythm can be there even without symptoms and may need to be treated to stop it getting worse.
  • Affected Children: This is perhaps the most important potential problem. The condition tends to be more severe in the next generation. So, a person with few or no symptoms can have a child who is more severely affected. This is particularly true for women. Even women who are not aware of any problems themselves can have a child who can be severely affected at birth (a condition called Congenital DM). These children might not survive, or might have major physical and educational difficulties later in childhood.

The main problems with DM

  • Weak muscles (especially the fingers/hands)
  • Muscle stiffness (especially the fingers/ hands)
  • Cataracts
  • Heart Rhythm problems (not angina or heart attack)
  • Breathing problems (especially after anesthesia)
  • Excessive daytime sleepiness
  • Premature Balding (mainly in men)
  • Reduced Fertility
  • Irritable Bowel Syndrome
  • Intellectual problems
  • Having a child who is more severely affected

If people know that they have this risk then there are various options that can be discussed with them that would ensure that they have a healthy child. What Should You Do? It is not an easy decision to decide to be tested for a condition when you have no symptoms. The reason for looking, is to know if you are at risk of the problems noted previously, so that they could be treated or prevented.

If you decide that you would like further information, then please take this booklet to your GP. Your GP is not an expert on DM and cannot perform diagnostic testing. If after discussion you may decide that you would like to be assessed, then your GP will refer you to a local specialist (e.g. a genetics or neurology specialist).