Nov. 30, 2021
Overview of everything + very exciting update!
“Until you have a child with special needs, you have no idea of the depth of your strength, tenacity, and resourcefulness.”
We have had some exciting developments recently in getting steps and steps closer to getting our children the treatments they need to potentially survive ASMD. I know this disease itself can be confusing, let alone all these different moving parts to getting them treatment so I wanted to put something together for family and friends to kind of “simplify” everything and try my best to explain their diagnosis, where we are currently at, and where we hope to be headed in terms of treatment. Hopefully it all makes sense because I know it is a little complex!
Roman and Stella's Diagnosis:
ASMD (Acid Sphingomyelin Deficiency, otherwise known as Niemann Pick Disease Type A/B). Basically, their little bodies are missing an important enzyme that is responsible for breaking down a lipid in their body. Without this enzyme, the lipid (sphingomyelin) builds up in cells throughout their body over time causing major organ malfunctions and eventually cell death. ASMD primarily affects the liver, spleen, lungs, and blood, and in more severe cases (like that of our kids) it can affect the brain causing a rapid neurodegeneration similar to a baby Alzheimer's. There is a disease spectrum of severity:
Type A- (Most severe)
- First apperance of symptoms is in early infancy
- Affects many key organs in the body including the brain
- Rapid rate of symptom progression
Type A/B- (Varies in severity)
- First appearance of symptoms can occur anytime between infancy-childhood
- Affects many key organs in the body, including brain
- Symptom progression rate varies
Type B- (Least severe)
- First appearance of symptoms can occur anytime between infancy-adulthood
- Affects many key organs in the body with little or no impact to the brain
- Slow rate of symptom progression
It was thought (and hoped) early on in Roman’s diagnosis that he was falling more toward the “B” end of the spectrum (or the least severe), but as time progressed and Roman started quickly regressing and losing skills, it is now believed that he (and Stella) are falling more toward the “A” end of the spectrum (most severe) with their "official" diagnosis being Type A/B. Children who are Type A typically don’t live past the age of 3 years old (we are determined to change this statistic though!), while those with Type B can live well into adulthood.
The treatment Roman and Stella are CURRENTLY getting:
Roman and Stella are both currently receiving an Enzyme Replacement Therapy through our local children's hospital. The name of the drug they are receiving is Olipudase Alfa. These are bi-weekly infusions that have been shown to reverse damage done to organs from the neck down caused by ASMD. It is basically doing the job that the enzyme their body is lacking is supposed to do. Sanofi Genzyme is the drug company that currently owns Olipudase Alfa- they are the ones we basically had to convince to let our children have access to this drug. I'm not going to go into all the details, but Roman was only the second patient worldwide to receive access to this outside of those who participated in the clinical trials, so you can imagine that getting him on this was no easy task (it included a lot of emails, phone calls, and letters written by our family to get them to agree to this as well as months and months of praying, wishing, and hoping). It was a long and difficult process to get Stella started as well (she is getting her fourth infusion next week).
The second treatment we are TRYING to get for them:
So we have a great and promising treatment that now both children are receiving that is doing everything that it should be doing, so what is the issue? Why do we need a second and potentially even a third treatment? Well, Olipudase Alfa was designed for patients with Type B (non-neurological disease). Unfortunately this treatment does not cross the blood brain barrier and does not make its way to their brain’s. So while it is working beautifully at shrinking Roman and Stella's livers and spleens, helping them gain weight and grow, and improve their lung function (among other a host of other benefits) it is not doing anything for their brain disease. We were well aware of this before we started, but when Roman was first diagnosed the ERT was the only treatment that was out there in some capacity that gave us some glimmer of hope. We also knew that we had to start somewhere so we started with this treatment because it was the closest within reach, although it definitely took some serious finagling to get them access to it. Plus we thought if we could keep his little body strong and more comfortable that would buy us time while we worked on finding something that could help with slowing down the rapidly progressing neurological disease.
And now enter: the FAAH Inhibitor (otherwise known as the small molecule drug). This is an oral medication (or in our children's case, would be administered through a gtube) that CAN cross the blood brain barrier. There has been some very promising research showing its ability to slow down or potentially even stop the neurodegeneration that occurs with ASMD. There was actually one patient a few years ago (same diagnosis as our kids) who took this particular drug for a year. While sadly, this incredible, little warrior ended up passing away, they were able to take away one key finding from him being on this medication: it was proven completely safe. The were able to see some biochemical effects of the drug, but not many clinical effects. As research has progressed, they have learned more about this drug and this study. One being that they think that this child was being grossly under-dosed. This child also was not on the ERT at the time, which would essentially work hand in hand with this FAAH Inhibitor.
What is the dilemma?
So this all sounds promising right? So why can't Roman and Stella get this drug? Well, after this child passed away, the company who THEN had the formulation to this drug sort of lost interest in it and stopped the study. Then another Pharmaceutical Company acquired it and is now looking into using this drug to treat PTSD. Well, we have been working with Wylder Nation Foundation along with another Mom, Brittany Markham, out in California (who's sweet son Damian, has the same diagnosis as Roman and Stella) to get this pharmaceutical company to allow us to use this drug for an independent study on our kids. We had a major development recently when Brittany's Father-in-law was able to get in contact with a higher up at this pharmaceutical company and explain their situation. And guess what? They agreed to let Damian use the drug!! This was a major step forward in getting our children access to it as well because getting them to say YES was the first step!
What's the hold up then?
So now, we had yet another hurdle to tackle because of course nothing can ever be easy, right? (Insert eye roll here) Currently (because the enzyme replacement therapy is not yet FDA approved) it is technically considered an "experimental" medication. Well, the drug company that formulates the ERT and in charge of the study had given our medical team a "hard no" to our kids being on another experimental medication while they are receiving the ERT. Because it is so close to getting FDA approval they don't want to risk anything that could potentially "rock the boat" happening to give them bad data, which I do completely understand. However, these are our children’s LIVES we are talking about so I was not about to just sit back and take no for an answer. My next plan of action was to get in touch with Sanofi myself and explain our situation. I ended up contacting the Patient Advocate over at Sanofi who helped me with getting Roman started on ERT over a year ago. She listened to all my concerns and told me that she had escalated my request to the appropriate people. A week went by…then two weeks went by… and crickets. Then I decided to reach out to their Global Medical Director for Rare Disease. I remembered his name from when we were trying to get Roman started on ERT and knew that he was higher up and had more lee-way. I have also learned over the past two years that the way to actually get things done is to bypass everyone else and go straight to the top. I explained to him that after seeing what amazing changes had occurred in Roman’s body after being on ERT for a year we were completely unwilling to stop this treatment to try out the FAAH Inhibitor, but I also told him that our children deserved every single safe and promising opportunity for treatment so we needed to figure out how to work together to allow this to work for them. After my initial email to him, things started moving quickly. He was very responsive and reached out to their medical expert as well as the Pharmaceutical company who currently owns the FAAH Inhibitor to learn more about the drug. They also had some internal meetings regarding our request. We got an email Sunday evening from the Patient Advocate saying that they were now OPEN to our request! This was such MAJOR news and such a huge step in the right direction! We essentially turned their “hard no” to a “soft yes!” I immediately emailed Roman and Stella’s Geneticist to let her know. Our medical team will be meeting with Sanofi this week to discuss further, but basically they will have to set up a new, unique, individual IND (Investigational New Drug) application for the kids to potentially be on both experimental medications at the same time. That will then need to be submitted to the FDA for approval as well as our hospital’s IRB (Institutional Review Board). It is a somewhat complex process, but we are determined to get this done as quickly as possible because time is of the essence with our children’s health. We also have made a couple amazing connections this year with some incredible people that can (hopefully) help move this along quicker for us. It also really helps that the Markham family from California is going through all of this simultaneously so we can all help each other out.
This all sounds amazing! So, what else needs to happen?
While we remain very cautiously optimistic that the FAAH inhibitor will slow down or potentially (FINGERS CROSSED) stop the nuerodegeneration that occurs with ASMD, it will not reverse any damage already done in their little brains and it is not a long term solution to their neurological disease. Roman and Stella will eventually need a THIRD and (hopefully) final treatment in order to survive ASMD. The last treatment that our babies will need to survive is gene therapy. Gene therapy is being used in a host of other similar diseases such as Parkinsons, juvenile Parkinsons, and Huntington’s and shows great promise at basically replacing the faulty gene in their brains. Because the research for this is still somewhat early on, we are a good 2+ years away from a formal clinical trial for this, which is why our Save Roman and Stella go fund me campaign remains at the utmost importance. Clinical trials are very expensive (think millions and millions of dollars) and since this is such a rare disease funding is desperately needed.
The bottom line:
We are going to continue doing everything in our power to advocate for our children and spread awareness of this disease. If everything continues moving forward the way it is currently going, Roman is on track to be the first patient in the entire world that will be on both of these two treatments at the same time. Pretty major, huh? We hope the universe continues working with us and guiding us in the right direction and to the right people like it has been. We are determined to make an impact in this rare disease and give our children the best possible chance at a happy and healthy life. We know we were given our children for a reason and we truly believe that all of the struggle's our family is going through now will make it easier for other family’s in the future to get the treatments their children need. Our children are our everything so we will give anything and stop at nothing.
I hope this was enlightening and I hope you all continue to support us in the fight to SAVE ROMAN AND STELLA! We will continue to post exciting updates as they arise, but in the meantime please keep our little fighter's in your prayers!
If you would like to follow more of the Markham Family’s journey check out their website here!
*IMPORTANT NOTE: I am NOT a doctor or a medical professional (although at times I feel like one!)*