I tried earlier today to add My Brave Story for Hunter but I don't know if it was added or not so here is a copy on my personal blog too. Warning it's long but Hunter's story is little complicated:
My beautiful son, Hunter, was born on December 6, 2005. He had the biggest blue eyes and still does, whenever he lays those baby blues on you, I cannot help but hope and hope that somehow someway a miracle is going to happen.
Maybe our miracle has already come and we are only allotted one per lifetime, but I do not believe his has happened yet. Unfortunately, Hunter was diagnosed at 21 months with Pre B Lymphoblastic Leukemia, on September 17, 2007, he was flown by helicopter by our local emergency room that was not equipped to handle the situation to a regional medical center that also had a children’s hospital that treated childhood cancers.
That day was the most horrible day in my life because we did not know if my sweet little boy was going to pull through, the doctors could not tell me any kind of prognosis other than it was very delicate and he needed blood transfusions because he was very anemic and the situation was very acute. His WBC was 108,000 at the time of diagnosis, that is over 10x the normal limits and it had crowded out the rest of his blood cells and his bone marrow.
After several blood transfusions that night and the next day, the oncologist went ahead and had a port place. Chemotherapy was started immediately. He had many, many different types of chemo, and forms of it IV, IM, intrathecal, and pill. He also lots of procedures done to him and high dose corticosteroids as part of his cancer treatment, which lasted for over 3 years and ended on December 27, 2010.
After treatment ended Hunter’s LFT panel were still abnormal in August 2011, which prompted his oncologist to send us to a GI for further investigation to see if he had liver damage from treatment. Hunter’s liver was fine and she suggested muscular dystrophy. So then, our oncologist sent us to the neurologist even though he did not quite agree with her, but he wanted to be sure. This just being mentioned, I cried the entire two-hour drive hour home I just knew deep down in my heart that was what it was.
At our first visit with the neurologist, she did confirm some kind of neuromuscular was at play and the symptoms he exhibited was not nerve damage from the chemo as we all had thought before. She went ahead and ordered DNA testing, as she said to rule out Duchenne or Becker’s. We had to wait several weeks for the results.
I had already done my research I knew what it was; the symptoms, the signs, and everything I could possibly find about muscular dystrophy the weeks before and after that visit. My background is in the medical field, I am very good at medical research and drive myself crazy trying to find information all the time that could help, that relates to Hunter in any way that could help him or help save him.
On December 28, 2011, one year and one day after his cancer treatment ended, the neurologist came in with the results of the DNA analysis. She began to talk to Pawpaw (my dad) and me, and she did not have say a word to me because the look on her face was perfectly clear.
Hunter has Duchenne’s Muscular Dystrophy; he has a rather large deletion that ranges from exons 6-30. Even though the in-frame deletions usually are milder and are usually Becker’s, he is already showing the clinical presentation of Duchenne’s. He was diagnosed 3 weeks and one day after his 6th birthday. He began his prednisone regimen in February 2012 and has taken it daily ever since and supposed to till he stops walking.
Hunter showed signs of regression shortly after the cancer was found; he stopped talking, walking, and everything. Along with his health care team, his grandparents and I were able to get him into speech therapy and later occupational and physical therapies to get him back to a more age appropriate level.
He exhibited toe walking early on, which we thought was from peripheral neuropathy caused from chemotherapy. Developed contractures of muscles and was having hard time with normal things boys his age should be doing, so we already had him in physical therapy and had him using orthotics braces before the DMD diagnosis.
Even though the Leukemia almost killed him, I feel it has also been his saving grace with his Duchenne’s. We live out in the boondocks, and the doctors in this rural area I do not think would have figured it out in time if he just had the muscular dystrophy since it did not present at birth. Otherwise unless you know, no one would have ever thought Hunter has ever been sick a day in his life even when he had cancer, he is so resilient and full of life, I cannot imagine not seeing him somehow beat this.
My mother died on November 21, 2010 of breast cancer, Hunter was a Maw maw’s boy, and her death really affected him. I don’t know if is cause we live with them or if deep down somehow he knows he has a death sentence hanging over himself every day as he gets a day older, everyday a few more muscle cells die.
Hunter knows he is different from other children, also gets bullied at school by the other children cause he is different and I am afraid as he gets older it is only going to get worse. He gets mad at his self when his legs will not work right or if he is falling a lot. He hates his leg braces, he hates taking medicine, but he does it anyway it may turn into a battle between him and me. He gets tired easily and has to rest, even when he wants to play with his friends or his cousins so bad he cannot stand it.
He already has a wheelchair for long distances since he is not able to walk them without getting overly tired. He is not supposed to anyway because it will cause more muscle death. The wheelchair is not needed at school yet but eventually it will be. His learning has been affected and he struggles at school, he also has ADHD, which has been linked to DMD.
Even though Hunter is doing great and is in better shape than some of the boys with DMD of the same age are. It is still hard to watch him struggle with day-to-day tasks such as: managing a few stairs, trying to open something, getting in and out of vehicle when drop/pick him at school, or other simple things we all take for granted every day.
Hunter has met one other boy who has DMD at where we have therapy; instantly they were drawn to each other and Hunter figured it out on his own they were alike cause he walked on his toes too. As a mother, it makes me feel good Hunter has another person he can relate to and the other boy even though he is older, he knows exactly how my boy feels so they are not alone in their battle even when the rest of the world makes them feel isolated because of their condition they did not ask for.
So for the life of me, I cannot see why there is not more known about DMD and more treatments besides the prednisone that has been approved by the FDA. I know the prednisone is not a cure and cannot the best treatment as wreaks havoc on their bodies at the same time it is supposed to put off the breakdown of muscles and keeps them stronger for a little longer. How much longer though? How much damage can it stop from happening, until it quits working?
But what do you do? There is no one that can really tell you other than this is your best option, okay? Then when your child is having side effects from the prednisone they look at you like you’re the worse mother ever for giving your child medication that makes him have some problems here and there, but you are scared to death to stop it because there is not another option out there for him to take.
There is no other FDA approved medication for DMD. Also, if not FDA approved, our medical insurance will not pay. I cannot afford to order some kind of medication out of Canada or wherever, that could be more beneficial than the prednisone, nor would I trust I was actually getting the right thing.
So I feel so stuck between uncertainty and government regulations that no wonder, that I cringe every time I see a clinical trial failed or a drug was not approved for DMD use after intensive testing. We need more research about DMD, into the different exons not just 50s skipping therapies, better effective drugs for DMD, and more in-depth information on DMD carriers (manifesting or not and their heart risk).
Without better research, information, and drug therapies, how are we supposed to be able to save our sons? And us that are carriers, how do know if our hearts are going to be affected or not by the same mutation that is killing our boys and how to take care of it? Therefore, we can take care of them without having to worry about our own health being affected while needing to focus on him.
As a single mother of my only son who I love dearly, I hope and pray every day there is a cure or a breakthrough in research for DMD. That somehow they will either figure how a way to slow down the progression altogether and let them live to rightful old age and be ambulatory until their 100 years old or older. However, in order for this to happen here in the US, we need the FDA’s help, cooperation, support, and involvement.
If I cannot figure out how to save my Hunter, who my world revolves around, and if I were ever to lose him, I could not function without him. Without him, I have no life or purpose. He is what I live for, why my heart is still beating, and he is the reason I fight so hard and I will not ever give up hope long as I have my Hunter.