World Duchenne Awareness Day 2020 (part 2)

World Duchenne Awareness Day is celebrated every year on 7th September. Worldwide awareness will be raised for Duchenne and Becker Muscular Dystrophy (a milder form of muscular dystrophy). The date, (7/9) refers to the 79 exons of the Duchenne gene.

In this blog I’ll explain a little bit about DMD and our experiences so far as a family. I’ll just point out that i’m not very clinically minded and not all the information may be in this article. I’m just trying to give a brief insight. The thing with a disease like Duchenne is that it’s very complex and you learn something new about it everyday.

Duchenne explained

Dr Duchenne de Boulogne

Dr Duchenne de Boulogne was a French neurologist who in the 1860s described severe progressive muscle weakness in 13 young boys, a condition that was later named as Duchenne Muscular Dystrophy.

Until the 1980s, very little was known about the cause of any kind of muscular dystrophy. Even up until the 1990’s many parents of children diagnosed were told in as many words there was no hope for their child. Imagine as a parent being told this?

What is DMD?

DMD is a genetic condition that affects the muscles, leading to muscle wasting that gets worse over time. It is mainly males that are affected, though in very rare cases may also affect females.

Alfie was almost 4 years old when we received his diagnosis but unbeknown to ourselves he was showing signs of DMD as early as 6 months old; he was unable to sit upright by himself. He would fall forward, backward or to the side if left unaided. We surrounded him with cushions just in case we misjudged his fall. A physio referral originally identified this as a weakened core but as he got older he didn’t hit his development milestones; sitting, standing, or walking and learning to speak were all problematic. When we first brought this up with our GP and other specialists, we were told ‘He’s a boy, he’ll catch up’. Muscle weakness is usually noticeable in early childhood. Most children with DMD use a wheelchair by their early teens. Heart and breathing problems also begin in the teen years and lead to serious, life threatening complications.

The most common signs and symptoms in people with Duchenne Muscular Dystrophy (DMD) are listed below although they do differ from person to person.

  • Delayed motor development (taking longer to learn to sit, stand, or walk)
  • Enlarged calf muscles
  • Muscle weakness that gets worse over time
  • Toe walking or waddling gait
  • Using hands to get up off the floor (Gower’s maneuver)
  • Progressive enlargement of the heart (Alfie has annual cardio check ups)
Alfie at our families WDAD 2019 gathering!

Diagnosis

Duchenne is diagnosed in young boys based on seeing a local paediatrician who check signs and symptoms, family history and genetic testing. CK Blood tests look for high levels of certain special proteins called muscle enzymes are used to check for muscle damage.

In males (who have only one X chromosome), just one altered copy of the gene is enough to cause the condition. Females, who have one altered gene, are called carriers.  Most female carriers have no signs or symptoms of the condition but in rare cases, female carriers may experience some mild signs or symptoms. A female carrier has a 50% or 1 in 2 chance of having a son with the condition and a 50% chance of having a daughter who is also a carrier. As Alfie’s Mum, Louise is a carrier our daughter will have to be tested when she’s older. Yet another worrying prospect ahead for our family.

Treatment

There is no known cure for Duchenne but since the early 2000’s steroid treatment has become part of the standards of care for DMD patients who are still able to walk. The use of steroids have opened up a new dynamic for Duchenne families. Alfie has taken steroids since July 2018 and they have made a massive difference to his daily life. Within weeks of taking them he was able to climb the stairs (always aided), something that he couldn’t do previously. Although there are lots of downsides to long term steroid treatment, the fact they can improve quality of life is a massive plus.

Life expectancy

Until recently, children with Duchenne very rarely lived beyond their teens. Improvements in cardiac and respiratory care mean that thankfully life expectancy is increasing, with many DMD patients reaching their 30s, and some living into their 40s and 50s.

I follow many Duchenne groups/forums and sadly I come across posts about young boys losing their life to this horrible, cruel disease. We hope and pray that one day a cure is found, thus changing the lives of so many families forever. New genetic editing techniques such as CRISPR are coming to the forefront so we still have hope as well as aspirations for our beautiful little boy. I sometimes sit at the end of Alfie’s bed at night whilst he drifts off to sleep; looking at his innocent little face you’d assume he was just a normal little 6 year old. I sometimes forget that he has a life limiting illness. He continues to amaze me every single day with his zest for life. If anyone is passionate about living life, it’s most definitely Alfie! I’m sure his strong will and determination will play in his favour later in life and that can only help to inspire others around him.

The next blog post will be based around this years World Duchenne Awareness Day theme, Duchenne and the Brain.

Please help to raise much needed awareness by sharing this blog.

Thank you.

Kieron x

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