I’d like to take this opportunity to thank everyone who over the last few weeks sent well wishes and prayers for Luke as he screened for his trial. I am so grateful for your support and a delighted to be able to say that Luke will be progressing onto the trial. The next few weeks are jam packed with appointments, both for the trial and for his usual appointments as part of the care he receives as a patient with Duchenne Muscular Dystrophy.
People have had lots of questions regarding the trial, so I thought, now that I have a few minutes, I’d try to explain what it is, what it will involve and how it will impact on all of us.
What is it?
Duchenne Muscular Dystrophy is caused by a fault on the Dystrophin gene, one of the largest genes in the body. The gene is made up of 79 pieces called exons that fit together like a jigsaw and when the right number of all the pieces are there, the body produces a protein called Dystrophin which is essential for healthy muscle development and repair. However, Luke is missing 2 pieces, exons 46 & 47 meaning that the reading frame is incomplete. I guess if you think of an electric circuit – if something is missing the light won’t come on, in much the same way, Luke’s body can’t produce Dystrophin because the circuit of the gene is incomplete. However, if you use a piece of technology called a molecular patch (exon skipping) to cover over exon 45 then exons 44 and 48 fit together to create a shorter but still functional (hopefully) Dystrophin gene. The trial that Luke is on is designed to test how effective this potential treatment might be in helping to slow down Duchenne by changing the presentation to the usually milder type of Muscular Dystrophy, Becker.
The Trial Details
The trial that Luke will be on is called the Essence Study and has the long title ‘Double Blind Randomised Placebo Controlled Study’ and will last for 96 weeks. This means that one third of the boys on the trial will receive placebo (something that looks like the drug but has no active drug in it) for 96 weeks while the other two thirds will receive the active drug. Boys will be randomly assigned to either the placebo arm or active drug arm of the study and neither the patients, doctors or trial investigators will know which boys have been assigned to which arms of the study. When all the boys have completed 96 weeks they will move into the second part of the study, another 96 weeks known as ‘open label’ where all the boys on the trial receive the active drug.
What will Luke have to do?
This week we will travel to Newcastle for another 2-day appointment where Luke will have lots of assessments and his scores during these will be his baseline scores and any slowing or progression of his condition will be measured against these. Then next week, Luke and I will be in Newcastle again when Luke will have to have a general anaesthetic to have a piece of muscle taken from his arm. This muscle will then be tested to confirm that no dystrophin is present in his muscle fibres. This is known as a muscle biopsy and he will have this done later in the trial again when it is expected that he will show small amounts of Dystrophin if he is on the active drug arm of the study. Anaesthetics can be very dangerous for Duchenne patients and Luke will be in some pain after it. It also means that during the procedure they will be taking something that is already very precious and more scarce than we’d like, muscle! So, I am a little anxious about this.
Following this Luke will start weekly infusions which will take place over one or two-day appointments in Newcastle, (yes, we’re flying to Newcastle every week). At these visits Luke will have an infusion which will last for 30-60 minutes (he’s such a little trooper) and will have some other checks done to make sure that he is not experiencing any side effects.
The reality of it!
To most people I’m sure it seems alien to imagine that you would be excited never mind willing to put your child on an experimental drug trial. And I will admit to being stressed, a lot, over the whole thing. Luke is going to miss a day at school every week for the foreseeable future – how will that impact on his education? His social skills? His confidence? Coen’s mummy and brother are going to be away at least a day every week! How will that make him feel? How will I show him that he is equally important and that I love him just as much as Luke? How will I manage my time, so Coen has alone time with mummy too? I still must work, I can’t afford not to! How will I manage my time between being away one and sometimes two days a week, every week while also holding down a job, taking Luke to all his regular appointments that he has here, doing homework’s, giving the kids a happy life, while also doing what I can in the fight against Duchenne? Just the thought of the number of things I must do over the next few weeks is giving me palpitations and we’re not even started yet. Every week means every week so there’ll be no week-long holidays, no long Christmas break! What if I get sick at some time over the next 196 weeks? – Everything will fall apart – no pressure lol.
So why are we doing it?
As some of you will know, we have a family history of Duchenne. 4 boys lost to Duchenne and 2 living with Duchenne. Over 3 generations of boys, Luke is the first to be given the chance to try anything. I know that this drug is very far from perfect but it’s a chance to slow down Duchenne. Also, clinical trial participants receive such a high standard of care and that alone could help add years to life expectancy. I believe that we are at a crucial turning point in the history of Duchenne and even though I know that second generation drugs will be coming through the pipeline, I am incredibly proud of my son for what he is about to sacrifice so that we can understand more about Duchenne, and that we can learn even more about how to make exon skipping technology better. I really do hope that he is on the active drug arm though. Exon skipping technology has been over 20 years in the making and trials for different exon skipping drugs have been ongoing for several years with no serious adverse reactions, so I am confident in the safety of the drug and believe the potential benefit outweighs the risk.
Luke is so brave. He understands that he is travelling to Newcastle to get onto a trial to test a drug for poorly muscles. He knows that he might or might not get the medicine. He knows that it is really important for him to do what the doctors and nurses tell him and he knows that he will have to get a LOT of needles – he’s a little bit scared of the needles but says that he will have them anyway because he wants to ‘help the doctors find medicine for my poorly muscles so I can win (beat) Coen (in a race)’. I am incredibly anxious about the coming months and years will affect my children and hope that we are making the right decision, but no parental decisions are ever easy no matter what they are. I could not be prouder of my two boys; my heart is simply bursting full of it.
So, I anxiously wait to see what lies ahead on this new chapter of our journey and will rely on Luke to guide the situation and involve him in decision making at every step.
Thank you all for your continued support and understanding, it really means so much xx.