Is there a cure?
No. Duchenne is a degenerative muscle wasting disease with no cure. Since Duchenne is a genetic abnormality, treatment of the condition is focusing on groundbreaking genetic and gene editing technologies.
How common is Duchenne?
Duchenne Muscular Dystrophy is a rare genetic disorder that affects around 1 in every 5,000 people. Mostly boys.
Are all types of muscular dystrophy the same?
No, there are a variety of forms of muscular dystrophy, but Duchenne is the most common type. Duchenne occurs when there is a genetic abnormality on the gene that causes dystrophin production. This genetic abnormality can take a variety of forms: a deletion, or a duplication, and it can occur anywhere on that gene. For William, he has a duplication of exons 12-20.
What is dystrophin? Why is it important?
Dystrophin is a protein found in muscles that works to strengthen and repair muscle fibers after they contract and relax. Duchenne patients produce either small amounts of or no dystrophin at all, which renders them unable to replenish muscle strength as they grow and use their bodies.
What is cutting edge about the gene therapy William may receive?
William’s prospective treatment will use the gene-editing technology known as CRISPR to change the code written in William’s body. You may have seen headlines about this exciting development coming out of the science world. CRISPR-Cas9 is a unique technology that enables geneticists and medical researchers to edit parts of the genome by removing, adding or altering sections of the DNA sequence.
Is there a timeline for the therapy development?
We are hopeful that by 2024 we will have some actual CRISPR solutions for William’s exact mutation. After that, there is a timeline with testing the treatment, full drug manufacturing and FDA approval. Of course, William’s progression, our fundraising efforts and family’s needs will all be part of this timeline.
What are the possible symptoms?
Some of the first symptoms may include frequent falls, difficulty running or standing up, waddling gait, enlarged calves, and sometimes delayed developmental milestones. Eventually, continued muscle deterioration results in losing the ability to walk. In the later stages of the disease, respiratory insufficiency or cardiomyopathy are common and life-threatening.
What are William’s symptoms currently?
Currently, William’s symptoms are showing. He can do activities similarly to many of his friends but typically slower and if you watch him, you will notice more tripping, falls and frustrations with gross motor skills. He does get tired after a busy day and we monitor his activity and make sure he’s rested and hydrated. Often, we will have to skip activities if they are too much or take rest days in between big activity days.
How should we talk about it in front of William?
William is mostly asymptomatic thus far, so we don’t dwell on it with him at the moment. For now, we are making sure he is aware that his muscles work a little differently than most kids his age so he can advocate for more rest when needed.
What can we do to help? And to spread awareness?
DMD is rare so educating yourself is a good first step. Thank you for being here. Talking about William and DMD to your friends and family helps to spread awareness as well. On a very practical level, this medical treatment is extremely expensive and any donation to this cause is helpful. If you have children, we love the idea of expanding your library to include stories with children who use wheelchairs to help normalize wheelchairs for kids. Don’t forget to spread love and kindness, as life is short.
How does this change his day to day activities ?
To an outsider, William leads a relatively typical life. However, although his symptoms are mild at this time, we have things to consider on a daily basis. Our family is aiming to reserve his muscle use, which means we do small things like lift him to the top of a slide instead of letting him run up the stairs. He also wears AFO’s (braces) on his legs at night to help stretch his Achilles tendons and support his calves. He already has more medical appointments than an average child in order to establish baselines and monitor his health.
What do treatments look like?
We are still learning how this process will play out, but our guess is that the treatment will be an IV bag, in a hospital with close monitoring afterwards. It seems so basic, but that’s how science works.
Is William in pain?
We have asked this question of other DMD parents and of William himself. At this time, it doesn’t seem William is in any pain.
Is it fatal, what is the life expectancy?
As of 2022, DMD is 100% fatal. It is a horrific prognosis. Historically, Duchenne patients can be expected to live into their early 20s, but thanks to advances in treatment are sometimes now living to their early 30s and beyond.
When/who does it affect?
Duchenne affects mostly boys, and they will begin to see symptoms (typically) around age 3-5. It is a very unusual that we know this information without symptoms and without an older sibling with DMD.
How does this happen?
Duchenne is a genetic disorder, so it is either passed down from parents or is a random birth defect. Kati has been tested and is not a carrier, so in William’s case it’s simply random.
What is CRISPR?
CRISPRs are specialized stretches of DNA, and the protein Cas9 is an enzyme that acts like a pair of scissors, capable of cutting strands of DNA. The goal is that CRISPR technology can be used to correct gene duplications that cause DMD by restoring full-length dystrophin, a protein critical to muscle strength and function.
