The day I learned about the first “effective” treatment for PROS conditions/CLOVES Syndrome, I was at the 2019 CLOVES Conference in Boston, Massachusetts. Dr. Canaud shared his progress on this in a compelling presentation. It felt monumental in that moment to see that a medication actually targeted the genetic mutation PIK3CA that causes CLOVES Syndrome.
Since then, there have been clinical drug trials on that medication which is known as Alpelisib. I myself have been on a clinical drug trial for the past 3.5 years for a medication called Miransertib. While on this trial, I was made aware of the Alpelisib drug trials and presented the option to enroll in that when it became available. However, I felt the need to finish out my clinical drug trial before switching to something new. I knew about some of the side effects of Alpelisib and how much more significant they were compared to the side effects of Miransertib, one of the reasons my doctor at the time recommended the Miransertib drug trial for me versus the Alpelisib one–that, and because it was available at the time (among other reasons).
Each time I’ve visited my team for my drug trial, I’m faced with the decision of whether to stay on my current trial or try the other one, which has been shown to be more effective for some people with my syndrome. But each time I’m hesitant. If I go off my current trial, I can’t go back on it since it’s only a clinical drug trial right now and it isn’t FDA approved yet so there would be no way for me to access this medication again if the other medication didn’t work out.
So each time I’ve decided to not rock the boat and just stick out my current trial even though the only results so far have been slight pain management. “Not rocking the boat” feels like the theme of this drug trial experience.
Fastforward to April 2022, and news is released to the world that Alpelisib has been FDA approved for treatment of PIK3CA-Related Overgrowth Spectrum (PROS). This was huge. While it doesn’t work for everyone, this is still the first FDA-approved medication to treat PROS conditions. That is progress.
And here I am now, sticking it out on this current trial. But at least I know now that Alpelisib is available if I ever feel the need to try it (though there is also the matter of insurance coverage to think about).
Even still, I have a fear of trying Alpelisib at all. If I wasn’t on my current drug trial, would I even try to start Alpelisib? I know it has proven to be more effective than other medications for CLOVES Syndrome, but I also know about its more severe side effects. The one side effect that stands out to me the most is hair loss. I know that sounds miniscule in the grand scheme of things, but I really can’t let that go. I’ve spoken to multiple people who have had significant hair loss while on this medication. I know there are hair products and supplements to treat this, but they may not always be effective.
The hair loss terrifies me. My hair is a part of me that I truly love – it makes me feel confident and beautiful. If I lost that, I know that it would have a significant impact on my self-esteem, which has already taken years to be built back up. Of all people, I should know firsthand how important self-esteem is for a person and how much it impacts your life and personality.
And my other reasoning stands – if I went off my current trial (which still has 3 more years) to try Alpelisib and it didn’t work for me, I wouldn’t be able to return to my current medication since it isn’t FDA approved yet. And it could be years before it’s FDA approved, if approved at all. The medication I was on prior to Miransertib was Sirolimus, and that didn’t do much for me so I really would not have a good option to fall back on. That is a little scary to me.
But the longer I’ve been on this current drug trial, the more disheartened I’m feeling. I have had more bouts of back pain where my lipomatous tissue is, and I know that none of that tissue has decreased in size. I’ve felt relatively stable on this medication for a period of time, but is that now changing?
These can be really tough decisions to make. If one medication is keeping me relatively stable, do I really want to rock the boat and try another medication with all its side effects? Or if I’m not feeling as stable on this medication, do I still want to face those side effects with a new medication? And what if I do make that choice to switch to Alpelisib but it doesn’t actually work for me?
With how unpredictable CLOVES can be, it’s a little scary thinking about making a big change like that. I’m the type of person that has a hard time taking that leap when I’m already feeling pretty stable where I am now. This is a decision I face every 3 months at my trial visits, and every time I have a small internal battle with myself about what I want to do.
Living with a rare disease or any other condition that may present similar options can be really tough to handle. For me, my priority on making these types of decisions is how I feel and what I think is best for me. That’s all it really comes down to when I face this decision each time, and I try to stay true to that throughout all other aspects of my rare disease journey.
PeaceLoveHeal 