World Duchenne Awareness Day

You’re cordially invited to the 2015 World Duchenne Awareness Day event at Cornwall Park on Sunday 6 September.  The event will be from 10am onwards.  It will be set up near the new café.  To show your support for people affected by Duchenne Muscular Dystrophy (DMD), you can:

• ·         come to the event,
• ·         buy a virtual balloon from www.duchenneballoon.org,
• ·         get Dinosaur Mac’s Discovery – a children’s book written by the mother of a little boy with DMD here,
• ·         read some real life stories of people with DMD at www.worldduchenneday.org ,
• ·         reading this essay on my blog,
• ·         or just think about the DMD community.

Since the event clashes with Father’s Day, I will also appreciate your support in spirit.

World Duchenne Awareness Day is coming up very soon.  Last year was the first international awareness day for Duchenne Muscular Dystrophy.  September 7 this year is the second one.  But before I convince you to do anything to support the cause, I’m going to tell you a story about a boy.  Then I’ll explain how the story is relevant to the topic and what Duchenne Awareness Day is all about.  I hope you will support the people affected by this condition with cash, with your action, your presence or in spirit (not the kind of spirit I can drink to make me walk).

Let me tell you the story.  A boy was born about 30 years ago.  At the age of one, nothing was unusual – he was very active and was walking.  At the age of four, he often said he was tired and asked his parents to carry him, especially when his mother walked with him to school.  At six, he started having trouble climbing stairs.  At seven, he started to fall, and eventually fell every day, so his mother gave him some kneepads to protect his knees.  At ten, he lost the ability to walk.  He was diagnosed with Duchenne Muscular Dystrophy at about seven.  By the way, this boy was me.

If this essay is too long, you can scroll down to the bottom to read a curious fact about Ferrari.

Disambiguation

This condition is named after a famous French doctor Duchenne de Boulogne (1806 – 1875).  There are several conditions named after him.  World Duchenne Awareness Day is about Duchenne Muscular Dystrophy (DMD).

Causes

It is caused by a defect (oh I’m using this word) in the dystrophin gene.  Normally, a functional dystrophin gene produces the dystrophin protein, which wraps around muscle fibres to protect the muscles.  In a person with DMD, dystrophin is absent and the muscles, mainly skeletal muscles, get damaged.  About 1 in 3,500 males born has this condition.  It is passed on from the mother or caused by a random spontaneous mutation.  The dystrophin gene is in the X chromosome. Only 1 in 50 million females has this condition because females have two X chromosomes, two copies of the dystrophin gene.  If one copy is not working, another copy acts like a backup.

Symptoms

These are some of the symptoms of DMD:

·         Awkward manner of walking, stepping, or running

·         Frequent falls

·         Fatigue

·         Muscle contractures

·         Eventual loss of ability to walk

·         Abnormal heart muscle

·         Respiratory disorders

Another symptom is the Gower’s sign – when the child uses his arms to “climb up his knees” to get up from the floor.  If the child is three or four years old and is still doing this, he needs to get checked by a doctor.  But if the child is one or two, it’s quite normal and you don’t need to worry.

Diagnosis

Several methods are used for diagnosis.  By blood test: if the enzyme creatine kinase level is very high, it indicates muscle damage.  There is muscle biopsy to find out if the muscle cells are normal and if dystrophin is present.  There’s also DNA test for confirmation.  Also, if there’s family history of the condition, prenatal tests can give early diagnosis so the child affected can get better support.

Treatments

These are common treatments for people with DMD.  The steroids Prednisolone and Deflazacort can slow down the progression of the condition by slowing down muscle damage.  Prednisolone has very bad side effects like weight gain and bad mood, but Deflazacort is not funded by the NZ government.  Some parents of boys with DMD are fighting to get the government’s drug funding organization PHARMAC to fund Deflazacort.  Mild physical activity and physiotherapy helps with mobility.  Spinal fusion surgery is also common for DMD.  Last time, one of our club members had spinal fusion for his back injury.  But for DMD it is done because the back muscles get so weak that the person can’t sit straight.  Respiration assistance is needed when the person with DMD gets older – the equipment includes ventilator and cough assist machine to help with breathing and coughing.

Research and development

Much research is underway to find better treatments and hopefully a cure for DMD.  Apart from developing better medicine against muscle damage, scientists and medical researchers are looking into exon-skipping, stem cell and gene therapies.

Exon-skipping therapy for DMD involves developing drugs that can manipulate the muscle cells into skipping certain parts of the faulty dystrophin gene, so that the cells can produce an incomplete version of dystrophin to give the muscle fibres some (albeit limited) protection.  The dystrophin gene is like a jigsaw puzzle made up of 79 pieces (called exons) that should fit together in a single file.  If the information in the gene is correct, the cells will produce the right stuff.  If the pieces don’t fit properly, the cells will most likely read up to the faulty part of the dystrophin gene and destroy the corrupted product.  It’s like an error in a computer program that crashes.  Depending on the particular genetic defect, exon-skipping may or may not help produce dystrophin.  For some people with DMD, certain drugs can make the cells skip a block of exons, continue reading to the end of the gene and produce some partially useful dystrophin.  Currently a pharmaceutical company is funding and running an exon-skipping drug trial for boys with DMD internationally, including three boys from NZ.  However, they and their families may be unable to afford the treatment even if the trial proves successful.  Even if successful, this treatment may not be a cure, but only a way to delay the deterioration.  The pharmaceutical company, seeking return on investment, will likely charge very high fees for treating a rare disorder.  This leads to ethical issues regarding the government’s health funding.  In what circumstances should the government provide or not provide a certain treatment for a person with a rare disorder?

Researchers studied the potential of stem cell therapy on animal.  They studied a type of stem cell called pericytes, which are located within the blood vessels of skeletal muscle.  They found that pericytes can be injected into arteries, cross through arterial walls into muscle and turn into potentially functional muscle.  Stem cell therapy with pericytes may be useful for DMD if the pericyte-derived cells can get into injured regions of skeletal muscle.

The aim of gene therapy is to correct the faulty gene.  In a mouse model of DMD, researchers found a gene editing technique to precisely remove a genetic mutation, allowing the body’s DNA repair mechanisms to replace it with a normal copy of the gene.  However, this technique is not currently feasible in humans.  Another kind of gene therapy uses viruses to ‘correct’ the faulty gene.

Famous person

A world famous person with DMD is Alfredo Ferrari (1932 – 1956), nicknamed Alfredino or Dino.  He was the son of Ferrari founder Enzo Ferrari. He designed the 1.5 L DOHC V6 engine for F2 at the end of 1955.  His namesake automobiles Fiat Dino and Dino (automobile) were produced after his death.

To be continued…