Wednesday, October 8, 2008

Just when we thought we were done....

Another test has popped up. It’s a bit of a story, so bear with me.

Joey has seen 3 neurologists since he was born. Dr. L was the first one, we weren’t happy with him and requested a referral to Dr. B, who we met in January and she ordered the tests that Joey had done at Sick Kids in April. When we got the Angelman diagnosis, Dr. B automatically transferred Joey’s file to Dr. M, who specializes in Angelman. At our last meeting with Dr. M in June he basically told us that since Joey does not have Angelman he will be closing his file, and didn’t feel it was necessary to have him followed by a neurologist at this time.

So fast forward to 3 weeks ago. Sick Kids left us a message reminding us of our follow up appointment with Dr. B on October 2, which was booked way back in January. I called back, basically just to confirm that this was a mistake and the appointment wasn’t necessary. I ended up speaking with Dr. B’s nurse, who reviewed Joey’s chart in the computer system and read aloud a section of a letter Dr. B wrote to Dr. L saying that “Joey exhibits many characteristics of Congenital Myotonic Dystrophy” and if the tests that were completed in April are negative (which they were) she recommended he be tested for MD right away. This letter was written last February, and sent only to a neurologist we have not had contact with for well over a year, so obviously this information was never communicated to us.

Dr. B is a pediatric neuromuscular doctor, and her sprcialties are Muscular Dystrophy and Multiple Sclerosis. I would imagine that her assessment of Joey is worth something.

I asked that they use the DNA already banked for Joey at Sick Kids to perform the test, so we don’t have to take a day off work and drive 3 hours round trip to the hospital in order to simply give a sample. This is not possible, they need a fresh sample for this test, which is apparently sent to the children’s hospital in Ottawa to be tested. So I contacted our geneticist, Dr. V, by email and asked if she could do the test at North York general, and this was her response:

Hi,I am happy to hear from you.

After all of the confusion with the micro array results, it did not escape me that we have never found the diagnosis for Joseph. We have NOT tested him for myotonic dystrophy, as far as I can remember. I will check when I am back in the office tomorrow. The genetic test is the simplest way to test for this. I will see if we have banked DNA. If not, I would be happy to see you next week for a quick chat if you have questions, and to draw blood from Joseph. The myotonic dystrophy test is done in Ontario.

Best regards, Dr. V

Apparently Dr. V isn't aware it must be a fresh sample?! That email was received well over a week ago, and despite me emailing her again asking for an appointment with her as soon as possible, I have yet to receive a reply. So yesterday I called our local paediatrician, Dr. K. His receptionist is AMAZING, spoke to Dr. K. right away and asked if he could order the test so that we could give the sample here at the local hospital. Of course he said yes. So the receptionist said she would call the hospital right away, find out which requisition form is required and she would fax it right over to me. I knew it was too good to be true. Later that afternoon she called back…apparently they have NEVER couriered a blood sample to Ottawa and have no idea which requisition form is required for this test. The person who might know, who works in the chemistry department, was away. The receptionist called back again today and was told that our local hospital will NOT draw the blood for this test. We’ve been though this before with our hospital…last time we had to get North York General to fax all of the paperwork to our hospital, someone had to actually call them to give direction, the sample was couriered to North York general and they in turn couriered it to where it needed to go. HUGE HASSLE.

I was a lot more patient when we went through this for the Prader-Willi test, and the Spinal Muscle Atrophy test, because I knew deep down he didn’t have either of those. In fact, once the blood was drawn for those tests I forgot all about them until the doctor’s office called us. I had never heard of Myotonic Dystrophy before, and with Google being both my best friend and my worst enemy, I’ve found out a lot of disturbing things about this disease, which is a form of Muscular Dystrophy. Here are a few things I found:

What is congenital myotonic dystrophy?

Congenital myotonic dystrophy is the early childhood form of myotonic dystrophy (also known as Steinert's disease). Usually in myotonic dystrophy the symptoms begin to show in childhood or later in life, but symptoms of congenital myotonic dystrophy are evident from birth. It occurs only when the mother already has myotonic dystrophy (although she may not be aware of this) and she passes it on to the child in a more severe form. 'Congenital' means 'from birth' because the condition is usually identified at birth or soon after; 'myotonic' means 'involving muscle stiffness'; and 'dystrophy' means 'muscle wasting and weakness'.

What are the symptoms?

Often babies with congenital myotonic dystrophy have problems with breathing after delivery and may need to be helped using a ventilator. Suction to remove any secretions in the lungs may also be necessary. Respiratory problems may continue after the birth and can be very severe and life threatening, especially if the baby is premature. Once the neonatal period (28 days after birth) has passed, the respiratory problems tend to improve. The baby is often floppy (hypotonic) which means that she or he has poor muscle tone. This usually improves with age.

It is important that physiotherapy should be practised on the baby from a very young age to help with breathing and lung function, and to encourage movement and strength. The motor milestones (physical achievements, such as sitting unaided) and the intellectual milestones (such as talking) which a healthy child reaches by a certain age, tend to be delayed in a child with congenital myotonic dystrophy. There may be speech difficulties, particularly with clear pronunciation, and so speech therapy can be of help.

A baby often has swallowing, and therefore feeding, difficulties. She or he may regurgitate food, have bouts of colic and need food supplements. Some babies may need a feeding tube (nasogastric tube) or even at times of illness a drip (intravenous infusion) to help with feeding.

How early is diagnosis made?

During the pregnancy, a mother of a child with congenital myotonic dystrophy may have noticed that the baby was not moving around in the womb as much as normal, and had reduced foetal movements. She may have had hydramnios (excessive amounts of amniotic fluid) and premature labour. The mother may not be aware of having myotonic dystrophy herself until after the birth of her affected baby.

If you’ve followed our blog you can see there are so many things that fit with Joey’s issues. To be honest I can’t really understand why no one ordered this test earlier. With Angelman there was always doubt, given that Joey didn’t have so many characteristics of the syndrome. But this…well, Joey has ALL of the characteristics of CMD. And as I started researching MD Type 1, which I would definitely have if Joey was diagnosed with CMD, a lot of things made sense to me in regards to my own medical history.

So now we wait. I’ve sent another email to Dr. V. asking for help in getting the blood drawn here. I’ve spoken to the chemistry department at our local hospital myself, and the person I spoke to said she will have to talk to the medical director and she will get back to me. I was so hopeful that we would have the blood sample given and the test sent away this week. Jason and I are leaving Friday on our first vacation alone since Joey was born and I really didn’t want to think about this while we’re gone!

- P, J & J

1 comment:

BabyKayla said...


I found your blog online and just read your story. I remember how hard it was before we got a diagnosis for our daughter Kayla. I'm so sorry that the doctors haven't figured it out yet. My daughter was born with congenital myotonic dsytrophy in July 2005. I too had never heard those words before she got her diagnosis. I created an online journal for Kayla when we were in the hospital so if you want to learn more about her, go to: Kayla has a very high level of the disorder so she is more severe than some kids with it but she is doing pretty well today. Several families, including mine, joined together to start a foundation for myotonic dystrophy where you can get medical information so if you want to learn more about it, go to: All of the content has been reviewed by leaders in the field of myotonic dystrophy so you don't have to worry about whether the information is reputable or not. We have also created an online community for families at: where you can chat with other families living with this disorder. If you would like to talk, send me an email: I'd be happy to share more about our experiences with our daughter and with this disorder.

aka: Baby Kayla's Mom