Mason was first diagnosed with MIOP on August 21, 2009. Even though we would not receive the “official” diagnosis until conclusive genetic testing came back several weeks later, this is the date that will always stick in our family’s mind. Everybody remembers the significant dates in history: September 11th, 2001; November 22nd, 1963; June 6th, 1944; December 7th, 1941. They remember where they were, what they were doing, who they were with. August 21st, 2009. That is a date in the Shaffer household that will never be forgotten.
At the time of diagnosis, the doctors informed us that the only treatment and cure option for Mason was a bone marrow or stem cell transplant. If a match, the best possible donation possibility for Mason would be a donated stem cell transplant from his older brother Reilly. After genetic testing, we learned that neither Reilly nor either of us was a potential match for a stem cell transplant. Once it was determined that immediate family members were not a match for Mason, Dr. Anders Kolb initiated a search through the National Marrow Donor Program (NMDP) to find a match for Mason as soon as
possible. In early September, we learned that 3 different cord blood donation samples had been identified as perfect matches for Mason. On October 1, 2009 Mason received his transplant from DONATED cord blood stem cells. Today even though the bones in his body are still going through the remolding process, he is considered cured of Osteopetrosis. That’s right….CURED!!!! Through the inspiration from our son, we are highly motivated to make a difference in other people’s lives. A large portion of the funds raised by the Mason Shaffer Foundation will go towards expanding the network of qualified cord blood donation facilities, funding continued cord stem cell research, providing education on the cord blood donation process, and developing an informational support network for families affected by Osteopetrosis.
Mason was born on March 5th, 2009 and recently celebrated his 1st birthday. We could not be more overjoyed. As parents, you always want to be a role model for your children. It comes with the job and you hope that you are able to fulfill the immense duty presented to you. The roles are not supposed to be switched and yet somehow in one year our little boy has taught us more about life and how to be a role model than we could ever hope to teach him. We’re proud to say Mason is our son.
In August of 2009 Mason was on his way to Dr. Louis Giangiulio, his pediatrician, for a follow up appointment for reflux. During the ride to the doctor’s office, we spoke on the phone and discussed having Lou look at a firmness we had recently noticed in Mason’s left abdomen. Mason had always had a
fairly big belly, but we had always discounted it as a big baby belly. After all it wasn’t really too much different than his big brother’s belly at the same age, but it was different enough to warrant a cursory look while at the doctor’s office. He was going there anyway, what more could come out of feeling around his belly.What we found out changed the course of our family’s lives…
For the first 5+ months of his life, Mason overcame numerous medical challenges. At 4 days old, he suffered several seizures. We were not even home for 48 hours before we went back to the hospital. Mason had to endure extensive testing including a MRI, multiple EEG’s, and 6 attempts at a spinal tap. The initial findings were inconclusive. The doctors were saying things like: infections, possible stroke, etc. All things you don’t want to hear about your 4-day old son. In the end, no definitive cause could be determined and he was put on Phenobarbital to prevent any further seizures. He was monitored by his neurologist over the next 5 months. As parents it was devastating, but we figured “hey, if he has to take medication for a few months, that’s OK….and if he has to take medication for several years or the rest of his life, oh well, things could be worse.”
At 6 weeks old, Mason suffered from a difficult case of RSV. It took the better part of 5 to 6 weeks for him to clear the virus, but he was able to stay out of the hospital. He did have difficulty breathing and quickly became a belly sleeper, but his fevers were mild. Again as parents it was difficult to see youryoung child struggle night after night and day in and day out, but hey he stayed out of the hospital and if the worst thing that happened was a long difficult bout with a virus…..so be it.
In the weeks following Mason’s bout with RSV, we began to notice numerous things that just didn’t seem right with Mason. We couldn’t exactly put a finger on it, but he just wasn’t progressing physically as quickly as we expected. Mason was not reaching his physical milestones like rolling over, arching his back and keeping his head up while lying on his belly. In general, Mason seemed very uncomfortable most of the time. He began battling reflux issues and was prescribed another medication. During the same time period, Mason also began experiencing eye problems. At first it was just the inability to maintain focus on what was right in front of him. It was almost like when you were talking to him or trying to entertain him he would look right past you or right over your shoulder. In some ways, it was a little disturbing and creepy…..kind of in a way where you thought somebody was behind you and all Mason wanted to do was look at them. We began to worry
about other potential problems like sight issues and even autism. Eventually, his eye problems progressed and his left eye began to have a pronounced drift.
We were not really sure what was wrong with our son and in July we took Mason to a pediatric ophthalmologist. Dr. Leonard Nelson very quickly deduced that Mason was nearsighted, more so in his left eye, and had a serious eye diversion or amblyopia in his left eye. He was prescribed glasses and we were told to patch his eye several times a day. He actually look extremely cute in his glasses, not so much with a patch on his eye. Once again Mason was faced with a challenge to
overcome and we as parents accepted the fact that thousands of children need to wear glasses. We didn’t like that our child had to begin wearing glasses at 4 ½ months old, but things could be worse.The series of seemingly unrelated medical events eventually led to the routine follow up visit with Dr. Giangiulio. During this visit with Dr Lou, the direction of our family’s lives changed forever. While Mason’s belly was abnormally large, no mass could be felt; however, there was concern about the possibility of an enlarged spleen. Lou informed us that more often than not enlarged spleens can be caused by a multitude of things including viral, bacterial, or parasitical infection. He also informed us that there was also always the extremely rare, once in a career case where it could possibly be caused by some kind of rare genetic disorder. If that was the case, we would need to take a gigantic step backward and re-evaluate everything in Mason’s extensive medical history which at that point was considered unrelated problems. As a follow-up to Lou’s exam, he wanted to have Mason undergo an ultrasound the following Monday.
The ultrasound confirmed an enlarged spleen and blood work was ordered. On Wednesday August 19th, 2009 the initial tests started coming back and we were informed that Mason had an extremely high white blood cell count. We were told to immediately go to A.I. DuPont Hospital for Children in Wilmington, DE where we were already express admitted to the hematology/oncology unit. It was extremely hard to stomach hearing that your five and a half month-old son was being admitted onto a Hem-Onc unit, but we can distinctly remember acknowledging the grief together and deciding to face what our family had to deal with.
During our first 6-8 hours at A.I. DuPont, the preliminary diagnosis was strongly leaning toward leukemia. Given our express admission onto the Hem-Onc unit, the factual component of this initial diagnosis didn’t come as a surprise to us. The emotional impact of hearing your little boy probably has cancer is a completely different story. We didn’t sleep much that first night in the hospital. In the morning, the doctors were in Mason’s room very early to give us more information. During the overnight hours, further testing indicated that while still possible, it was not likely that Mason had leukemia. It was kind of surreal. You go to bed thinking your child has cancer and wake up to find out he probably doesn’t have cancer. The really odd feeling though was the fact that the doctors were still looking at some testing that could indicate some possible genetic disorders….genetic disorders…..in some weird way we almost
kind of wished he had cancer. Something just didn’t seem right. Talks were leaning towards rare diseases and disorders and as parents you are wishing it was cancer…..that’s messed up. How can you begin to have the eerie feeling that having cancer may be better than what the doctor’s say your child might actually have…..I don’t think we can properly explain how it is possible to have thoughts like that. While a conclusive diagnosis based on genetic testing would not be available for several weeks, Mason was essentially diagnosed on August 21st, 2009 with an extremely rare and extremely serious, genetic bone marrow disorder called Malignant Infantile Osteopetrosis, or MIOP.
Over the next 24-48 hours, we began to learn about medical, biological, and genetic topics we previously at best only had peripheral knowledge about. We aren’t doctors, but as parents of a child recently diagnosed with an extremely rare diseases you quickly learn about a lot of stuff ….very dense and brittle bone, mutated genes, osteoclasts and osteoblasts, stem cells and transplant….there was so much information in such a short period of time. It was almost impossible to cognitively digest everything that was being thrown at us. We had so many questions and so little time to logically, yet alone emotionally, process all of the new information we were finding out about our son. As a result of the disease, Mason did not have properly functioned bone marrow and without properly functioning marrow he
was unable to produce correctly functioning blood cells. His enlarged spleen and liver essentially took over the function of his marrow. The only possible treatment for MIOP is a stem cell transplant, but we were still many steps away from this stage of the game. We needed to get back some extensive genetic tests before we could even think about taking this next step, but we knew this was the only viable option that could save our son. We didn’t want to face what lied ahead, but we knew Mason didn’t have a choice and we needed to be strong for both of sons and set an example for the rest of our family.