Our Family’s Experience with Bone Marrow Transplant Treatment
Hello Morquio community!
My 8yo son just completed hematopoietic stem cell transplant* (HSCT) to resolve his enzyme deficiency that was brought on by MPS IVA, Morquio Syndrome. This treatment for Morquio was the 2nd treatment of its kind in the US and I wanted to share our story.
I wanted to write all of this so that you can better understand our journey and decision making. I stay in contact with the other US HSCT parent and his child is also doing extremely well. We just spoke today 10/29/21 as I had heard that misinformation was being spread about his child’s current state of health. BE SKEPTICAL.
We are open to any questions, however I will not answer in open forum where trolls may try to ridicule our experience. Our real experience is not up for debate.. nor is yours, regardless of what path you choose.
If you want more info on the doctor, procedure, etcetera, IM me* and we can set up a direct dialog. My hope is that we can help educate other parents so that we can work together to find better treatments and a cure for this disease. We have no agenda, but we feel strongly that we owe the patients, the parents, and the people assisting with research our gratitude and access to our experience so that we can benefit as a community.
Thank you and wishing you all the best.
*For more info view this research article: Hematopoietic Stem Cell Transplantation for Morquio A Syndrome. To access or to be in touch with family, email firstname.lastname@example.org.
The decision to go with HSCT was a tough one for my wife and I. In 2015, when my son was diagnosed at 2 years old, we were devastated and immediately started looking for what options were available. My wife found Dr. Tomatsu’s study early in our search.
After our research, we decided (at the time), that HSCT was the best available option. The only problem was that it was unavailable in the USA. The original HSCT treatments were many years old, limited, and were done in Japan.
We met with Dr. Tomatsu yearly starting in 2016. HSCT for Morquio was not widely used and had never been used to treat Morquio in the USA. However, HSCT was being used for treatment of other MPS diseases as the standard of care.
Doctors and Morquio “experts” that we met early on dismissed the treatment and instead pointed us towards the only treatment available, ERT. The unwillingness to continue testing this method of treatment was very frustrating to us as we saw the potential.
However, we were thankful that there was ERT treatment that had just become available in 2014 and we started the ERT process when my son was 2 years old.
5 years passed and we constantly sought alternate solutions.
During the 5 years, my son completed weekly ERT. This was a 4.5 hour treatment per week. Over the last couple of years, the weekly infusion procedure became a huge struggle as he would physically fight us when being accessed (he had a port) and we knew that this would not be sustainable long term. We continued seeking alternatives.
In early 2020, I saw that another parent had posted on a Facebook Morquio site that his child was in the middle of receiving HSCT for Morquio in the USA. I almost fell out of my chair and quickly notified my wife of the unexpected movement of HSCT in the US. I reached out to that parent to find out more and got in contact with the same doctor that he had used.
By October of last year, we met live with the doctor at UC San Francisco (we live near Washington DC) and she accepted our son as a patient. We started working on getting his pre-HSCT tests done to establish a baseline and we started to look for a donor match on the International Bone Marrow Registry.
Around January 6th, 2021, we found multiple perfect matched donors and set a date for the procedure. He was admitted to the University of California San Francisco (UCSF) Children’s Hospital BMT unit in March 2021 on his 8th birthday.
This was a long process and requires a ton of dedication. My wife stayed with our son at UCSF during the procedure. I stayed on the East coast with my youngest son who is not afflicted with Morquio so that I could continue work and he could continue school.
This was a 5.5 month procedure from beginning to end. Technically, they both could have come home around the 4 month mark. However, weekly checks and blood work were required. Due to the fact that we live across the US, we knew that flying back and forth multiple times weekly (5-6 hour flight) was not an option. This was also during Covid-19 when flights were limited.
In late August 2021, my wife and son returned home from the procedure. He was on the tail end of taking the post HSCT drug regimen daily that we administered from home. As of mid September, he is no longer on ANY drug (including Vimizim) and his port was removed. The treatment was successful.
Ultimately, we are not sure if this will have any positive result on bones. There simply is not enough data at this point. The early HSCT studies showed mixed promise, but we are hopeful. My son had already completed many of the typical bone related surgical procedures such at decompression, ankle and 8 plate. In addition, he is now 8 years old and started the HSCT process at a later point in life. Misinformation on HSCT has delayed this treatment as it has limited willingness to attempt the procedure.
Regardless of that, my son is now naturally creating the enzyme within the normal range that he once lacked. He creates it all of the time – 24 hours a day, 7 days a week, for the rest of his life.
The process and recovery went extremely well. He is doing extremely well. The HSCT process follows a strict regimen that is tried and tested and I believe that the doctor that performed our son’s treatment is the best available.
I find that parents tend to question impact on height. Again, we don’t know the answer. However, stature is not as important to us as the potential to positively impact soft tissues and organs.
There is a ton of bad information out there about HSCT. We all should be seeking solutions. This disease is extremely rare and we may never have access to the cumulative data points that we would like to have.
We need to share real experience from the Morquio community. I hear “experts” say too often “not enough research”. “Experts” apply dated HSCT risk rates from other diseases (such as cancer) to HSCT in Morquio and this is not a fair or accurate comparison.
I see various “experts” using the same talking points questioning safety, siting anecdotal conversations with doctors who quickly dismissed the process. Often this is done while totally ignoring Morquio specific scientific evidence that is in contrary to their regurgitated talking points. This tendency is deceptive and leads to confusion for those who are looking into this option.
So here is a fact: HSCT is a very common medical procedure that is used broadly and anyone can research the protocol. In this case, the exact science is being applied to Morquio by doctors who have decided to look at real evidence, real experience, real data, and real conclusions.
We truly are limited on Morquio specific data because Morquio patients are RARE. We will remain in this state of uncertainty for any emerging therapy if we do not try things and learn to selectively apply available research and experience.
The promise of new emerging options dangles just out of reach. The years are passing. Our friends and family members in the Morquio community are passing. We should not waste time disputing each other’s real experience. We should eagerly seek results. We should listen. We should learn.
Let’s remain optimistic yet skeptical as patients and parents. We should be eager to hear about alternative treatments. We should celebrate those who are seeking treatments and push hard for cures. We should insist that pharmaceuticals provide real data on drug results. We should not just accept and remain satisfied that the 6 minute walk test is great evidence of efficacy. We should question credentials from “experts”.
We should insist that we want MORE! Unfortunately, due to the rarity of this disease, there simply is not enough research… and solutions are coming painfully slow. We cannot just sit by and accept the status quo.
In making this tough decision, my wife and I debated all of the positive and negative. We did our research. We listened to the patients, the parents, and the real experts. We talked and debated a lot about everything we heard.. and we did what all parents and patients do… we made the most educated decision based on the info that was available at the time.
Finally, we asked ourselves… with what we know now, what would our future son want? What would we want if we were in his place? How will we explain our decision, regardless of what we decide to our son?
We decided that HSCT was the right choice for our son.
I am sharing 5 pictures of my son. They are out of order so I will explain them.
One prior to treatment in late 2020 (in pink collared shirt). One during his treatment while on the standard chemo protocol (yes he lost his hair). One after he was released from hospital (on the beach). One a few weeks ago (with mask while playing in a bouncy house) and one from this week in brown pants after he had his 1st haircut since treatment.
The 5 photos depict our son before, during and after the procedure, and should be read top to bottom and left to right. The top-left image is our son prior to treatment in late 2020 (in pink collared shirt). The center-top image image is our son during his treatment while on the standard chemo protocol (yes he lost his hair). The top-right image is after he was released from the hospital (on the beach). The bottom-left image is from a few weeks ago (with mask while playing in a bouncy house) and bottom-right image is from this week in brown pants after he had his 1st haircut since treatment.