We are parents to a child that was diagnosed with pediatric brain tumor called diffuse intrinsic pontine glioma (DIPG) in June 2021. We wanted to share our experiences with others to help parents make informed decisions. Furthermore, bring awareness about DIPG, the H3K27M mutation and shed some light on navigating clinical trials.
Time is not on your side when it comes to this diagnosis. After a full MRI of the brain and spinal cord, we were told Mia’s tumor was metastatic. She had a tumor in the pons area of the brain and several on her spinal cord. Because the pons is located in the central most part of the brain, it was not accessible for biopsy.
The doctors recommended a biopsy from one on the spinal cord since they could access them via surgery. In the fast analysis of the tumor, the doctors could tell us that Mia had the H3K27M mutation. But further testing would need to be done to determine exactly which category it would fall in either H3.1 or H3.3. We received the final pathology report a few weeks later. It showed Mia’s exact mutations to be H3F3A p.K28M (aka H3.3), Amplification of 4q12 (including 3 genes PDGFRA, KIT, and KDR) and TP53 p.V274F.
We were under the impression that these findings would assist in the selection of clinical trials. What we didn’t know, was that since the tumor was metastatic, it basically disqualified us from almost all clinical trials. We didn’t know the combination of H3K27M mutation H3.3 was known as the “wild type mutation” which was associated with poor response to radiotherapy as well, and exhibited more metastatic recurrences than those in H3.1 mutation.
Our team of doctors at Nicklaus Children’s hospital in Miami recommended proton radiation for duration of 6 weeks. The treatment was with Miami Cancer Institute with Dr. Hall. The radiation was focused on the head and spine. The doctors were telling us that radiation treatment would shrink the tumors and would relieve the symptoms caused like double vision and balance issues for what they call the honeymoon phase. The honeymoon phase is a term used for when your child is in remission and they can go about their normal daily activities. However, radiation did not provide any relief from these symptoms for Mia.
During that treatment and after, we were constantly searching for clinical trial for Mia. We were full steam ahead on that search. Once we sent MRI scans and pathology reports as requested to the clinal trials, some completely stopped talking to us and a few flat our ignored our request for follow questions like St. Jude. St. Jude whose mission statement is “no child is denied treatment based on race, religion or a family’s ability to pay” did turn their back on our daughter. My wife donated to St. Jude for many years. They completely stopped speaking to us, with no explanation. It was a terrible way to handle a family in desperate need of treatment for their child. Other institutions were honest with us and explained that she either didn’t qualify or they didn’t have any openings.
We know now the combination of H3K27M mutation was especially bad and the clinical trial doctors only wanted patients that would better support their clinical trial statistics. So basically, your child is too sick and frankly your child will screw up our statistics. We did apply for and speak with Dr. Nicholas Vitanza with Seattle Children’s hospital. His clinical trail had an arm specifically for metastatic tumors. He was very sympathetic, helpful and responsive to our questions. We used him as a second resource / opinion for treatment options and medication options for Mia.
Ultimately we elected treatment with our Oncologist with clinical trial medications, without being in clinical trial (aka off trial). Our first combination of medications recommended to us was Ribociclib and Everolimus. We were excited to finally have access to some treatment for our daughter. She was on these medications for 3 months. However, the tumors showed progression while on the medications and ended up discontinuing them. Our next drug combination was called OKN007.
Our Oncologist had to get FDA approval thru their expanded access program and was given emergency access to the medication. Mia was on this medication for 1 month and then started to decline rapidly. We think the tumor progression had already advanced too far for the medication to provide any benefit. But on the surface it didn’t look to provide any help for Mia. She ended up passing away on April 9th 2022. She fought for 10 months after diagnosis. Needless to say we are devastated and miss our daughter dearly.
In reflection somethings we would have done differently:
1. We feel the doctors should NOT have recommended a biopsy after we found out the tumor was metastatic. Most clinical trials were eliminated at the point and we shouldn’t of put Mia thru the pain of that surgery. The clinical trials that were available for metastatic patients did NOT require a biopsy anyway.
2. Be mindful when reading about what medications parents are treating their children with. On the surface, their child maybe living longer than other children, however it has more to do with what H3K27M mutation they have and less to do with what medications their child is taking. At times parents don’t mention the mutations their child have and tout the medications keeping their child alive longer than others. But the realty is, their tumor is probably less aggressive and in a different category than H3.3.
3. We see doctors recommending the same medications to patients that we know do not work for DIPG and don’t understand why they are doing this. If your reading this and your child has the same mutations as our Mia. Do not waist precious time taking Ribociclib and Everolimus. They did not work and wish this information would be made more widely available for parents.
4. The use of dexamethasone (anti-inflammatory) steroids or should we say the over use. Some of the side effects which we didn’t know about, were stretch marks. They appeared on Mia’s lower back, legs, arms and chest. Once we realized what was happening, we weaned her off completely. It took some time. Her doctors recommended a gradual decrease each week by 1mg. Its another blow to the child’s self esteem to now see these scars appearing in noticeable places.
We would like to assist other parents and children dealing with this terrible disease. If you’d like to help, we encourage others to make a donation or contact us to find out how to get involved. Let’s bring awareness about pediatric brain caner, DIPG, H3K27M mutation and help comfort these families in need.
For more information about Mia Saberson, please follow the link provided.