Dan's diagnosis

Dan went to a neurologist in October 2013 for a nerve test for arm pain from his previous injury. After a rare abnormal reading on his EMG, he walked out that day with more questions than answers.

(Fast Forward to Summer 2014)
We needed answers and we felt that this neurologist had taken it as far as he could/would. We did some research. We found a group of conditions that suddenly explained so many things in Dan’s life that he didn’t know were not “normal”. It was eye opening. We found a support group online to get more information and advised that Dan’s neurologist didn’t seem to have a lot of knowledge with his issues. We were advised by an advocate to go straight to the MDA. Muscular Dystrophy Association. ((Our Heart Sank)). MDA? It is easy to let your fears get you.

We keep a book of business cards for all of the specialists that me and the boys have. I joke every time they get a new referral that one of the kids is adding another specialist to the repertoire (haha – gotta laugh right?). Never did I imagine that Dan, our healthy one would be adding to our book of providers.

September 2014 - Dan had an appointment set with MDA for October. In the meantime we had to take our youngest J.R. to a PCH neurologist because they were concerned he was showing signs of a neuromuscular disease himself (are the pieces finally coming together?). That appointment was so surreal. After a few minute of brief history, Dr. Bernes, a pediatric neurologist (who we now know is the MDA specialist for PCH) looked at Dan and told him just by looking at him what he thought Dan had (we later found out he was right)! Although Muscular Dystrophy was ruled out for J.R. – we left the appt with no new answers for him.

After 2 MDA appts for Dan (October 2014 and Jan 2015) and another genetic test, Dan has a confirmed diagnosis. He has a very rare genetic neuromuscular disorder called Myotonia Congenita.

Myotonia congenita is a rare genetic disorder in which an abnormality of voluntary (skeletal) muscle fiber membranes causes an unusually exaggerated response to stimulation (hyperexcitability). Abnormal repeated electrical signals occur in the muscles. As a result, affected individuals have difficulty relaxing certain muscles after contracting them (myotonia), muscle stiffness (rigidity), and associated symptoms.

He experiences the following:

·         Can’t stand for long periods of time

·         Cannot walk long distances

·         Repetitive motion cause muscles to lock/freeze up

·         Frequent choking, gagging, or trouble swallowing

·         Constant stiffness and soreness

·         Chest tightness

·         (Paradoxical Myotonia) Gets worse with movement

His condition brings the following risks:

·         Long-term (chronic) joint problems – due to muscles pulling on joints

·         Prone to tendon damage (ruptures) due to muscle malfunction

·         Aspiration pneumonia caused by swallowing difficulties

·         Possible death with general anesthesia (“Malignant Hyperthermia”)

·         Risk of significant injuries (A simple fall can be life threatening if his muscles lock and he can’t catch himself and hits his head).

·         Risk of muscle lock up in emergency situations (startling him or any adrenaline response causes muscles to lock)

·         Stress, anxiety and cold temperatures aggravate symptoms

There are 2 different forms, Dan has “Thomsen”. This is a dominant form of the disorder and our boys have a 50/50 chance of having it. If so, this will add more complications to what they already deal with.

It really is a rare disorder that still does not have a ton of research. There is a medication that may lessen Dan’s stiffness, but no guarantee it will work. The medication seems to only work on certain individuals but they don’t know why. If he is able to gain benefits from this medication and he takes it long term they will have to monitor his heart with periodic EKG testing.

We were so grateful to hear that the disease itself should not shorten Dan’s life.  It should also not progress to the point he is in a wheelchair. But there are complications that could lead to more difficult mobility if we are not careful and mindful of the risks.

Dan is at the point that he walks with a cane and cannot shop without a motorized cart. He also has to take frequent rests in his daily activities to relieve the pain, stiffness, and burning in his muscles. Sometimes you just have to shove pride aside and do what works to keep going. The medication is on order and Dan will most likely start it sometime this week or next.

We are relieved to have an answer. If there is one thing we have learned in the last 5 years it is that when it comes to your health, knowledge is power. Thank God for science and modern medicine.