Treatment: To Treat or Not to Treat MD

G’day, friends and welcome to another week and another blog.

This week we are discussing the treatment options for my Bethlem/ Ullrich Muscular Dystrophy Diagnosis.

…. And that is the end of another week!

All jokes aside, due to the rarity of my condition (0.77 per 100,000 for Bethlem, and 0.13 per 100,000 for Ullrich MD) MedlinePlus 2020, and the nature of it in terms of severity and the increase for research into severe strands of MD like Duchenne, and other conditions (understandably so), there is minimal research of my condition that can lead to potential treatments.

Most times, the answers I get at the specialist appointments for most of my life have been from research about Duchenne, MD. The difference between Duchenne and Bethlem is what ingredients, if you will, are impacted.

I thought it may be handy to first give a little background into the differences between Duchenne and Bethlem/ Ullrich quickly just for context.

so for Duchenne, there is an absence of Dystrophin, the ingredient (or protein) that helps repair the muscle once it is used essentially. Instead, it impacts virtually every muscle in the body, including the heart. So restricting movement as much as possible can help slow down the progression of the disease… Remember, I am not a doctor, so don’t take this as gospel; it’s just my understanding of how DMD works.

For my type of MD, what is not being produced as much or not at all, is Collagen. No, not the collagen that is in hair, skin and nails, but a specific collagen found in tendons and skin a little bit and muscle fibres. My genetic mutation is Collagen 6. Basically is the glue that hold the different muscle fibres together, and it provides strength and stability to the muscles. What adds the extra complexity is there are two different types of disorders due to a lack Collagen 6; Bethlem and Ullrich MD. Bethlem is less severe, and Ullrich is severe as it impacts breathing muscles more and is more progressive. I also believe that within collagen 6 there are different subtypes which add even more confusion.

So naturally, there will be more research on Duchenne due to the severity and life span than other conditions, which is entirely understandable. However, that also leads to medical advice/ disease management being given based on Duchenne research than Bethlem/Ullrich in my case anyway.

That limited research on Bethlem/Ullrich also leads to treatments for Collagen 6 slightly taking a little longer. So for those of us with Collagen 6 disorders, we are left to trial and error disease management/ treatment ourselves. Which is a good thing, but also can be a frustrating thing. Especially when you pay $450 for 15 minutes for a dr to tell you the same things they have been saying to you for 23 years… which is ‘nope nothing treatment wise, just don’t over do it with the exercise or self treatments okay’.

Before you ask, there are no Collagen 6 supplements like hair, skin and nail collagen supplements. I assume it’s because it is tough to recreate. I have no clue.

So in the past, my treatment options available to me were stretching, wearing night AFOs, using mobility aids. As a kid, I wouldn’t say I liked stretching (I still don’t); the AFOs were a safety issue as I couldn’t take them off by myself, and I couldn’t sleep due to the pain in my ankle due to the plaster, and using a mobility aid was super fun as I was the cool kid. However, I often wonder if I did stretch all the time and only use a mobility scooter in extreme circumstances growing up how I would be now mobility and strength wise.

In the last few years, though, I have dabbled with saying, ‘screw you, doctors, I know my body thank you,’ and weight training and pushing my body more complex than ever by doing a 5km and taking my disability to the task.

I saw positive results and prolonged and incremental gains in the gym and, when walking continuously, strength and stability in my walking. Looking less penguin when I walk and more ‘normal’. So I know my body does respond to exercise, which is encouraging.

However, I have also been contemplating more and more about trying medical treatments.

My good friend Amy has been doing a specific type of Stem Cell treatment over in the USA and has been seeing some encouraging results, especially when she first started. Basically, Dr’s take Stem Cells from your body, reengineer them to remove the faulty gene that creates MD, and then places them back in the body. The hope is the body will copy that strand of stem cell rather than the damaged version, leading to strength and mobility. That’s my understanding anyway.

However, the treatment isn’t offered in Australia yet, which means flying overseas. The therapy also isn’t a one-jab-and-done kind of deal. It is a regular treatment. So travel, plus the therapy itself, would cost me thousands! Money which I just don’t have, am trying to pay of school loans people!

Why is the treatment not common knowledge or available in Australia yet, and not much research done on it yet by leading doctors?… Big Pharma….. Controversial statement I know.. That’s all I am saying…

Another treatment option I have always been aware of is tendon lengthening or tendon release surgery to make my arms straighter and my heels reach the floor again. However, I have also been told that if I do that to my Achilles, there is a real chance I won’t be able to walk again, and if I did it to my arms, wouldn’t they have the same function, and I would lose a lot of ability?

So, the million dollar question; To treat or not to treat?

It is a question that is also controversial. Some in the disability community believe treating a disability is ableist as we are seen as ‘not fully embracing the disability’ and that we want to be expected.

As far as I see it, it is a matter of quality of life. Can I do the things I want to do? Can I keep up with everyone around me? Am I happy with the way things are going?

It isn’t about being ‘normal’ for me. It’s about increasing independence and extending my life span. Because, like it or not, this condition will kill me, potentially earlier than the average female lifespan. It’s just the way the state works.

My prognosis at the moment is ‘stable until 50’. However, the reductions in strength I feel from time to time, pain and my 3% reduction in lung capacity in the last five years paint a slightly different story for me. Don’t get me wrong, it is much better than the prognosis of 19 I got as a child and those with DMD, but noticing a decline in strength is scary.

But I also have to weigh up my ability as it sits now. I can still do practically anything I want to do, with some concessions of course. I can still feed myself, walk to the bathroom, swim, laugh, and breathe.

So I have to ask myself, am I prepared to give that all up in case tendon release doesn’t work in the way I want in giving me extra time and independence?

Am I prepared to lose ability in case stem cell treatment sends me backwards once it wears off?

There are so many questions to ask and to answer.

But the one non-negotiable thing is I want to be around for many years. And I will do whatever it takes to make that a reality for myself and my family. So whatever treatment, or no treatment, will do that, I will take. No questions asked.

Sure everything has risks. But when it comes to your life, you must be willing to take educated risks and be ultimately at peace with the decision, even if the worst should happen.

At the end of the day, whatever the decision, I will keep living abled my way no matter what.

Till next week, remember to keep living abled your way.

Rhi.