I’ve served on peer review panels for research through the Congressionally Directed Medical Research Program, (CDMRP) in the past & when asked, have done reviews of proposals from a patient perspective.
In May, I was approached to give testimony to the FDA in June for a public meeting they are having on drug development for the two diseases.
Unfortunately, due to an unresolved (albeit minor) issue with my kidneys & still limited stamina, I won’t be able to attend in person.
I thought it might be interesting to share the first draft of my statement here. I need to hone to record it into a 5 minute audio or video clip which I hope to do soon, but I think the draft came out well.
I often write in a tone that I’m talking to someone face to face, so hopefully there won’t be that many tweaks to make.
I have had Tuberous Sclerosis Complex since birth. I started having infantile spasms at 7 months of age. I was lucky a specialist in Minnesota recognized the symptoms & diagnosed me when I was 3. I have not had an active seizure since then, & no meds since the age of 5 but I do live in fear of them returning.
I was diagnosed with LAM at 26. At that time, Rapamune was not yet a treatment. I had about 6 months of normal lung function after diagnosis. (I had symptoms even before I was diagnosed. The symptom was a lung collapse a year & half before. Imaging showed at that time I didn’t have LAM markings.).
When I was offered the drug, my lung function was about 47 percent. It helped my quality of life & slowed my decline but it did not prevent me from needing oxygen or a double lung transplant.
I am hoping however, since my kidneys have responded well that it might prevent me needing a kidney transplant in the future. However, there’s no guarantee.
Rapamune had mixed results in my lungs. My decline was not as fast as when I was off it, but I still had drops. I felt better for a long time on it. Even when the time for oxygen came I could tell my body handled being on the drug better than off. Once my airways have healed (this month or later) my transplant team will put me back on.
While rare, it has been known that LAM can grow back after transplant.
I honestly wish there were more treatment options as not everyone responds or responds fully to the treatment.
My life pre-transplant & post transplant is difficult. Though I no longer need 8 liters of oxygen to function like I did prior to transplant, I had steroid induced diabetes for about 5 months after transplant. I still have to remain vigilant of my blood sugars even though they have improved because I’m still considered pre-diabetic. My energy levels & stamina are still unpredictable. I also end up using a lot of reminder apps & alarms because I am more forgetful. I have to be very vigilant of being aggressive even with minor illnesses like allergies because of the immunosuppression. (My body has no immunity now to avoid rejecting my lungs.) Some days I am unable to exercise due to nausea and/or pain. The drugs are hard on my kidneys period. I have to weigh myself, take my temperature, blood pressure, & lung function measurements on a daily basis for the rest of my life. I need periodic bronchoscopies to check for rejection.
Rapamune is actually the most tolerated drug of much of my current cocktail of about 15 medicines.
My best weapon on building lung function despite living on a measly 12 percent of my lungs prior to transplant was exercise. I continue my pulmonary rehab type program at a local hospital fitness center. When I was exercising on my own I was also part of an exercise study through the LAM Foundation. I soon hope once my retention settles, to take up harmonica to keep my airways strong & for fun to let off steam. I see a therapist & a psych nurse practitioner to be sure I am monitoring my anxiety. It seems from all the issues that TSC & LAM caused (even before transplant) I was hardwired to stress.
I had to stop working in 2015 after I received my first internal promotion. I then had to shift to raising money for transplant in order to keep my insurance & cover unexpected costs, as well as pay deductible expenses.
I don’t know if I will be able to return to work, but being on disability as a whole process is very hard. Thankfully I have good support. But this sometimes also impacts treatment decisions. Working became impossible pre transplant.
I also sacrifice much time with transplant aftercare. The first 6 months I have had appointments at least every 2-3 weeks or once a month if things go well. I have to coordinate my care with my transplant team & local physicians which are all very good & caring professionals, but this has become my job now.
My ideal treatment would be a drug or a combination of drugs that would slow the growth but also kill the tumors whether they be in the kidney or lungs or both.
It would also ideally be a cocktail that would not have to be taken daily, perhaps only for periodic bursts but having lasting effects. It would have a minimum of aggravating side effects in an ideal world (no nausea, diarrhea, stomach pain), or at worst case a tolerable amount like Rapamune.
When I first started Rapamune treatment I weighed it against what a worst case outcome or interaction would look like. Would it make me worse off? In the case of Rapamune it was worth the risk to me because I could not get much worse than I was at the time. I also had significant hospital fatigue from almost 10 surgeries each about 6 months apart in a 6 year period. So this really was also about weighing what a best case scenario could do for my quality of life.
I felt better using a known drug rather than an untested one. At least there was long term data in kidney transplant patients of what the effects of long-term use would be. This was another thing I weigh in any new drug scenario.
To be honest — with as sick as I was prior to Rapamune, I might not have qualified for a lung transplant because of my kidneys & the way the tumors there were affecting their function. I also had at least 2 brushes with death. Turning 40 was looking way out of reach. I had exceeded the past life expectancy of LAM but not by much.
Now being post transplant, I know I am living in “overtime” so to speak but it was the only option I had left other than death. These diseases were & are actively trying to kill me & take my life.
I was fortunate enough to at least have life preservers at the exact moments I needed them both through Rapamune & transplant but they are not a cure. They are merely a treatment & treatments not everyone responds, tolerates, or has access to.
We need more options.
I think if research has shown other pathways other than mTOR are involved we need to expand our drug screening & agent selections to those alternative pathways as well in the hopes of learning more but also potentially helping other people, especially for those who don’t seem to respond to mTOR inhibitors.
I get that this is very science-y to some, but I am targeting this to professionals at the FDA. I hope it will help make a difference.
I have lost so many friends to both diseases in the prime of their lives. It would be nice to have more options for people to try to give them a chance of having a better quality of life.
(NOTE: Some explanations for non-science folks: Infantile spasms are a specific form of seizure in babies [not just in TSC]. mTOR is a major genetic pathway in both of my diseases. Rapamune is a drug made by Pfizer. The generic form of Rapamune is called sirolimus. The two drug names are often used interchangeably but it is the same treatment. Novartis has a similar drug, a chemical cousin, called Afinitor or everolimus, but I refer to Rapamune/sirolimus alone because it has FDA approval for LAM & was the first drug offered. I didn’t take & don’t have experience with the other drug so that’s why I didn’t mention it. A bronchoscopy is a test using a scope to look inside the lung.)