11219635_662477467185587_7187529969132691387_n.jpg
11219635_662477467185587_7187529969132691387_n.jpg

About


A brief explanation on Duchenne Muscular Dystrophy (DMD) and how Charlie was diagnosed.

SCROLL DOWN

About


A brief explanation on Duchenne Muscular Dystrophy (DMD) and how Charlie was diagnosed.

Sometimes you will never know the value of a moment until it becomes a memory.

Theodor Seuss Geisel

 

6th June 2011

Diagnosis

Charlie was diagnosed with Duchenne Muscular Dystrophy (DMD) in 2011. It was a day that changed our lives forever. Time stood still on that day and not a moment goes by where we have not thought, heard or witnessed the effects of DMD.


What is Duchenne?

Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy (DMD) is a progressive muscle wasting condition.

DMD is always fatal.

It is the most common child hood genetic disorder. The disease almost always affect boys, with 1 in 3,500 being effected. Their are estimated to be 2,500 known children with Duchenne in the UK and 300,000 worldwide.

Those effected by DMD have a fault in their genetic code. This fault means their bodies are unable to produce a protein called Dystrophin. Dystrophin is needed to repair muscles.

The fault within the genetic code is different in every child. In Charlie's case he is missing part 49 and 50 of his Dystrophin Code. The code that makes up the gene is like a puzzle. If a piece of the puzzle changes it can't fit together properly.

At present Charlie's body is failing him, his legs are giving way, he is falling often, his body aches, he experiences extreme tiredness and has associated Autistic traits. He understands he has poorly muscles and recognizes the difference in his peers.

Duchenne will gradually paralyze Charlie's body and leave him with heart failure. We will never give up fighting for Charlies life and happiness.

 


How it is DMD diagnosed

Diagnosing Duchenne

Because Duchenne is genetic it is often a presumption it runs in the family. Quite often DMD has been passed on from a child's mother who carries the gene but in our case, it was a random mutation in Charlie's genetic make up.

Some children are diagnosed because families know they may carry DMD. In Charlie's case it was because he didn't meet 'normal' milestones.

Boys (and sometimes girls) will often walk later, fall often or show difficulty, jumping, running or getting up from the floor. It is often usual to have very enlarged calf muscles.

Charlie never crawled, started taking steps at 24 months and always had large calf muscles. People often used to comment on how strong he looked. We now know this to be scar tissue and inflammation of the muscle.

In Duchenne there can be links found to learning difficulties, speech delays, ADHD and autism. It is because of Charlie's speech delay that we finally got led to Charlie's diagnosis. The therapist noticed Charlie walked with a large gait and they referred him to a pediatrician.

Charlie's pediatrician ran blood test to check Charlie's creatine kinase (CK) levels. CK is normally found in muscle but when muscles are damaged it leaks into the bloodstream. Normal levels for a male between 1 and 18 would be under 120 U/L. Charlie's levels were 20,002!

Charlie then went on to have a muscle biopsy, a process of taking a small sample of muscles to confirm diagnosis and what part of the gene had a fault.

This all led us to where we are today. Before June 2011 we had no idea about Duchenne and now it is at the fore front of everything we do.