Pediatric MPNs: A Mother’s Story

My daughter has always been a very active, happy child. She is very creative, loves animals and art. She has always participated in sports. Currently, she runs cross country and plays field hockey and loves her ceramics and art classes. If you look at her, it is impossible to see a sick child, you’d never think she’s different or that there is something wrong with her health.

When she was 8 years old our family moved to Kentucky. Her new pediatrician requested a blood test, which was something she said she did for all of her new patients. My daughter had never had blood drawn as part of a normal check in any of the states that we had previously lived. At first it felt very invasive, but we agreed. To our surprise, it was discovered that her blood platelet count was at almost 2 million. The pediatrician of course requested a second test for validation and again the results were the same.

As parents we were shocked because my daughter had never had headaches, bad bruising without reason or ever felt fatigued. Every question we were asked regarding any symptoms she may have exhibited, our answer was no. She never presented any symptoms. After the first visit to the hematologist, we were told my daughter needed to get a bone marrow biopsy. At this point our world was upside down.  Why a bone marrow biopsy? What are the doctors talking about?  We had little to no answers. This is when we decided to start looking for help, after all she is our daughter and we needed guidance. At our church one of our deacons is on the medical board of a university, so we reached out to him for guidance and a better explanation. He was able to ease our worries by explaining the reasons for the bone marrow biopsy was to give us a better understanding of what my daughter had.

Once the bone marrow biopsy was done, we got the diagnosis that it was a JAK2 mutation causing Essential Trombocythemia, again we didn’t really understand what we were facing, this was a rare illness for adults and even rarer in children. They wanted to start a treatment that was usually given for another illness, but that it might help keep the blood platelets under control. Our whole life changed, we had a diagnosis but no real answers about this condition. She was the first patient in our area to be diagnosed with ET and there was little to no information about it, our child didn’t look sick or feel sick, however she needed to take hydroxyurea, a type of chemotherapy.

I can tell you that I was very upset and sad, I’m supposed to protect my child, but how? Having no answers from doctors made me feel even worse. For my own peace of mind, I decided to do my own research, I spent hours on the computer and talking to our deacon trying to figure something out. Then I came across the MPN organization and MPN Advocacy and I subscribed to get their emails and magazines, I soon realized that there was very little to no information about this condition in pediatrics.

Meanwhile my daughter started the treatment and she would ask me why, I don’t feel sick, why do I have to take this? Because of her age it was difficult to try and explain everything in a way she could understand, but we did it the best way we could. We told her we loved her and we would never let her down and everything was going to be OK.

My daughter went from doing regular, normal 8 year old things to having to visit the hematologist every other week, going through all kinds of testing and taking this chemo medicine. Her platelets went down, but after a couple of months she started vomiting and having headaches, my daughter had never had headaches or presented anything like this. There were constant visits to the ER or the pediatrician every time she was feeling sick, there were constant tests and blood draws, but nobody knew exactly what was wrong. At one point her blood platelet count went down below normal and that’s when the doctor adjusted the medicine to a lower dosage and she started feeling better, the headaches still continued, just a little more infrequently but now she presented another symptom, she felt tingling in her hands and feet.

We tried to keep her life as normal as we could but the constant headaches made it impossible, it affected her school work and attendance, I would have to pick her up every time she was sick. It affected her activities so she didn’t want to take the medicine any more. We visited all kinds of specialists, a neurologist, an ophthalmologist, just to make sure there wasn’t something we were missing but every single test came back fine. Our frustration grew and so did our need for help.

My daughter didn’t want to go to the hematologist any more, she was trying so hard to be happy, yet we can see that she was sad. She had never spent so much time in bed due to headaches, she didn’t want to take the medicine that made her feel sick anymore, she would ask, why me?

At age 9 she needed to get another bone marrow biopsy, it was very scary for her, I still remember when they put her to sleep, she looked so little and so fragile. You’re supposed to protect your children, but what can I do against this?

I continued to research ET and found that MPN Advocacy was having a seminar in Boston. My husband and I decided we needed to attend it to see if we could get some answers. I contacted Ann Brazeau and told her about our daughter and that we needed help finding more answers about ET. We wanted to learn about this condition but also wanted to try and seek out help from somebody that knew more about this. Ann not only had answers for us but she put us in contact with Dr. Nicole Kucine. We attended the seminar and it was the best decision we could have made, we learned so much about the MPN conditions and the medicines used to treat it and we also got the opportunity to meet Dr. Nicole Kucine, a leading ET specialist who specializes in pediatrics. We later took our daughter to see Dr. Kucine and she was able to answer many of our questions and give us some different options and ideas that put us in a more confident state of mind.

My daughter now feels more confident when it comes to talking about her condition, she understands that we can’t keep it a secret. In school, teachers need to know that even though she looks fine and can function like any other 9 year old, she has ET and some days are going be bad for her. She can’t understand everything at her age, but she has a strong spirit and just keeps going.

The biggest difference between the first day of this journey and now is the understanding and knowledge we gained by attending the MPN Advocacy and Education’s MPN program in Boston. We learned so much about our daughter’s condition and we gained new tools to support and help our daughter. We understand there is still so much research to do and knowledge to gain about ET in children. We know that we may never get all the questions answered for my daughter, but we take it one day at a time. She continues to attend school, she runs cross country, plays field hockey and takes ceramics classes. She continues to do well in school and for better or worse when she becomes sick she has been able to adapt and can control it better and recovers quickly. But we are looking forward to the day that we can lower her medicine to a level where she can live with no side effects. We let her know that we love her and we would do everything in our power to help her. We are thankful to God, the support of friends and family, people like Ann Brazeau, the MPN Advocacy and doctors like Dr. Nicole Kucine who dedicate their time and lives to teaching and informing parents like us.

By Silvia