1. What is it?
Muscular Dystrophy is an umbrella term for a group of muscle diseases.
There are nine forms (see image above), which then divide into many more sub-types.
The various forms of MD differ significantly in which areas of the body are affected, severity, rate of progression, and the age of onset.
Some are born with the condition, while others do not display symptoms until adulthood.
2. What causes it?
A faulty or mutated gene. It is therefore, a genetically inherited condition.
If one or both parents have the mutated gene that causes MD, it can be passed on to their children. However, this doesn’t necessarily mean the children will have the condition. But they may be carriers.
I have a rare form of congenital (from birth) MD, which is an autosomal recessive disorder, meaning you inherit two mutated genes, one from each parent – as shown in the image below.
I am the only known member of my family to be affected by muscular dystrophy. My unaffected parents (both carriers) had never heard of the condition, and so, it was a huge shock to receive my diagnosis at the age of 4.
3. What form do you have and how does it differ from other types of muscular dystrophy?
I have a rare form of congenital (from birth) MD, called Ullrich.
I wrote a whole post about my life with Ullrich congenital muscular dystrophy.
But in summary, it is slowly progressive, causes joint contractures, and does not affect the heart or intelligence.
4. Can people with MD have babies?
The simple answer is YES! MD doesn’t affect fertility in any way.
My good friend Fi Anderson has a rare form of MD, and is a mother to two daughters, neither of whom have MD. Check out Fi’s blog here!
5. Can a baby be tested for it in the womb or only after birth?
Prenatal diagnosis is possible for some forms of muscular dystrophy, but not all. Non-invasive testing can be carried out from 7 weeks into a pregnancy.
If one or both parents are carriers of a particular muscle-wasting condition, there is a risk the child will be affected.
It is advisable to contact a geneticist for further information and guidance.
6. What do you wish people unfamiliar with MD knew about it?
I wish there was much more awareness of the condition, and the fact that there are many varying forms.
Sadly, many people haven’t even heard of it.
Furthermore, those who have tend to associate it with Duchenne (the most common form).
Almost every medical professional I’ve encountered throughout my life has assumed I have Duchenne, which goes to show the lack of familiarity and education.
There is a lot of information, research and charitable funding for Duchenne MD, which is fantastic. But, there is very little for other forms, which is, I have to admit, rather frustrating.
This means that people living with lesser-known forms, that are just as debilitating as Duchenne, do not receive the same support.
7. How has your life been impacted?
UCMD impacts every part of my life.
I became completely non-ambulant at age 10, and I now use a powered wheelchair.
I have severe contractures in all of my joints (knees, hips, elbows, wrists), and a severe scoliosis (curved spine). As a result, my balance is very poor.
UCMD affects my respiratory function. 7 years ago it became necessary for me to use a BiPAP machine (non-invasive ventilation) nocturnally.
For me, a common cold can very quickly develop into a serious respiratory illness, such as pneumonia (which I’ve had numerous times).
I experience chronic fatigue due to the progressive muscle-wasting and my squashed torso, which prevents expanditure of my lungs.
I try to live as “normal” a life as possible, having attended university and learnt to drive (though this is no longer possible as my condition has deteriorated).
8. Pros and Cons of living with UCMD?
The cons of my condition are mostly listed in the previous answer. The most bothersome of these are the respiratory decline and chronic fatigue.
You might think being unable to walk would be the most frustrating thing. And while I do wish I could walk, jump and run, this has never really bothered me all that much. It is what it is, and you learn to adapt.
The pros I would say, include the network of people I have in my life, people I wouldn’t know if it weren’t for my condition.
I have made some amazing friends through blogging and living with muscular dystrophy. For this, I feel incredibly fortunate and thankful.
Other pros include my Motability WAV (wheelchair accessible vehicle), blue badge for free parking, and being able to skip to the front of the queue at tourist attractions!
9. Has it changed/got worse over time?
Yes, my condition is progressive and life-limiting. My symptoms have got worse over time.
The term life-limiting can, understandably, be scary for many to hear. While I don’t expect to live to be old and wrinkly, I have no plans to pop-off anytime soon!
After all, if you’re a smoker you are limiting your life expectancy!
As a child, I could walk short distances wearing custom-made leg splints.
Joint contractures and the severity of my scoliosis has increased.
My lung function is significantly worse as an adult.
10. What are some of the common misconceptions?
There are many! Here are just a few assumptions…
I have family members with the same condition (I don’t).
I can’t have children.
I can’t have sex or a loving relationship (some even assume I wouldn’t want to).
Many assume I can walk, even when I try to explain I am completely non-ambulant.
People think I take lots of pills and potions – if only there was a miracle cure! I’d take it in a heartbeat.
For more examples, check out this blog post I wrote all about societal preconceptions related to being a wheelchair-user.