Brian's Journey from Diagnosis to Bone Marrow Transplant
By Jean Reese, Brian's mother.
On January 2, 1997 my 3 year old son, Brian Reese received the devastating diagnosis of Alpha Mannosidosis. My husband and I were obviously shocked and saddened by this news. We were initially told that there was no cure, no treatment. Take your son home, love him, enjoy him, and keep him comfortable as best you can. There was little known about Alpha Mannosidosis at that time. We were told that children with this diagnosis have an unpredictable life expectancy. There is no way to know if a person will survive childhood or live into adulthood. The future that we (that ALL parents) dreamed of for our son was no longer possible. We didn't know where to turn.
Initially, my husband and I were barely able to function. We had to find a way to continue working and raising our 2 children; Erika age 6 and Brian age 3. We quickly became consumed with trying to find out as much as we could about Alpha Mannosidosis. The Internet was just beginning to find it’s way into people’s homes in 1997. We were fortunate that I had Internet access through my position as an IT professional. I was able to connect with Paul Murphy and Dag Malm, the 2 people we credit with leading the charge to create a supportive community for families facing this diagnosis. Their mission was to increase awareness for the need to find a treatment and/or cure for people who suffer from Alpha Mannosidosis.
Through this connection we learned that research with gene therapy was in the preliminary phases. With a disorder with such a low incidence (1:500,000) the research dollars were just not flowing in fast enough to find a cure. We knew that any damage done to Brian’s physical or mental capabilities could not be reversed. We felt like we had this enormous pressure to find a viable treatment as quickly as possible. At age 3 Brian was already showing signs of the disease: developmental delays, fine motor impairment as well as speech and language delays. Paul Murphy pointed us in the direction of Dr. Krivit at the U. of Minnesota hospitals in Minneapolis, MN. Dr. Krivit was a leader in the field of Bone Marrow Transplant research for children with genetic disorders.
Brian, my husband, and I made the 14-hour trip to visit with Dr. Krivit and Dr. Charlie Peters in Minneapolis. They were brutally honest with us, indicating the survival rate of 60% for non-related bone marrow transplants. Unfortunately, none of us were a suitable match for Brian. We turned to the National Marrow Donor Program and were blessed to find a donor. We were told that Brian’s donor was a 42-year-old man, Paul, from the Boston area. We are eternally grateful for his selfless gift of life, as well as the American Red Cross and the numerous blood and platelet donors.
With the incredible support of a medical team at U of MN hospital and the aftercare here in Ohio from Brian's pediatrician, countless specialists and the staff at Nationwide Children's Hospital, Brian survived the transplant journey. In a 12 month period he needed over 30 blood and platelet transfusions, spent over 70 nights in the hospital, made nearly 250 clinic/doctor visits and lived at the Minneapolis Ronald McDonald House for six months. He was in relative isolation and wore a mask any time he stepped outside the safety of our home. There were 3 different occasions when Brian was gravely ill from the transplant process and we were told to prepare ourselves that he might not survive. Somehow Brian pulled through each of these crisis situations, somehow we all did.
Brian does suffer some long-term complications from the BMT process. He has lens implants in both eyes to correct cataracts caused by the radiation and steroids. He has hearing loss caused by the toxicity in the drugs used to save his life when he battled pneumonia (twice) post BMT.
When Brian's health stabilized at age 5, he entered the world of public education. We were not familiar with how school districts are required to educate children with disabilities. We quickly found ourselves immersed in the IEP (Individual Education Plan) process. With the support of caring and knowledgeable academic professionals (and with the support of and advocate) we were able to secure the educational supports Brian needed to be able to access a free, public education. Our collective goal was to provide Brian with the supports he needs with the ultimate objective being for him to be as independent as possible. Brian is an outstanding student. He has the basics covered; never misses school and always completes his homework. School is hard for Brian. His disability makes the routine challenging and time consuming. Brian has learned how and when to leverage the support of tutors and teacher assistance. We are so proud of his level of determination and never quit attitude.
Sports are where we see his enthusiasm. Brian has played all sports (with a passion for soccer) since age 5. He is an avid snow skier and loves to wake-board. However, he does struggle with physical limitations due to his Alpha Mannosidosis and the chemo/radiation he received during the BMT. As kids his age hit puberty and grew bigger and stronger, Brian leveled off. Despite 9 years of daily growth hormone injections, Brian has reached an adult height of 5'0". We know that this much growth is a success for a child with a Lysosomal Storage Disorder. Brian sees this in a negative light, just another way he is different from his friends. We empathize with him. The teenage years are difficult for many people, and he is no exception. We pray that he will see these differences in a more positive light when is is an adult.
Fast forward to September 2012 ...... Brian is fully immersed in his senior year of high school. He continues to enroll in general education curriculum, with an interest in business classes. He is a member of his high school soccer team. Despite having to endure painful joints (which are likely due to his genetic disorder), he dutifully ices his back, knees, and ankles after every practice and he happily returns to the playing field the next day.
Brian doesn't want to miss out on anything in life. He has watched as his sister has had her ups-and-downs as a college student. He wants to have that opportunity. As his friends are beginning their college search, so is he. My husband and I are spending time sitting in the admissions office on college visits with Brian.
We never allowed ourselves to dream of a college experience for him. Brian has proved us wrong! None of us know what his potential college life will look like. We will take this one step at a time. Knowing Brian, he will find a way to make this work. He continues to be an inspiration to us.
We feel exceptionally blessed to have the unconditional support of our family and friends. They were part of this journey, propping us up when we needed it and helping us celebrate the many milestones along the way. At a time when the world felt like it was closing in, there were many new paths laid out before us. We were introduced to people with indescribable medical intelligence, patience and passion for helping people like Brian.
This experience has changed all of us in ways we never imagined. Erika, Brian's sister is pursing a degree in the medical field. She is interested in working in pediatric hematology/oncology. I made a career change from business to education. I am in Intervention Specialist and work with children with special needs. My professional life has helped us understand Brian and support him in ways we did not know were possible. My husband is a math teacher and he has also been an active part of Brian's academic success.
Receiving a diagnosis of a life-threatening genetic disorder has had a significant impact on our family's life. All families who face this same situation understand how overwhelming the feelings of helplessness and fear can be. Fortunately organisations like ISMRD and the MPS Societies have evolved into organizations that are leading the charge to support research, support families, as well as increase public and professional awareness for these very rare diseases. We respect and appreciate the work the leaders and members of these groups are doing with high expectations of improving the lives of our children.