January 19, 1999 was a day that entirely changed our lives. I remember that day like a birthday or a new beginning in life. That was the day my son was diagnosed with a rare disease called Fanconi Anemia. This particular rare disease has no cure. There are only 1,500 cases worldwide. Yes, we hit the gene pool lottery that day. Surely not the kind of lottery one wishes to hit in their lifetime.
At that very moment, I decided that we would never define success by if he “lived or died”. We would determine success by how we “fight the fight”. It was the only way I could look myself in the mirror and be assured that in the future we would have no regrets.
Living with a child with a rare disease that has a chronic long-term illness is challenging to say the least. We were told at the time of diagnosis that he had less than a 5% chance he would make it until 5 years old and less than a 15% chance that he could survive a bone marrow transplant (BMT) which would cure the “blood portion of his disease.” Even if he survived the BMT, he could become afflicted with (1) graft-versus-host disease, (2) long-term complications from the radiation and chemotherapy, and (3) head and neck cancers at a risk of 5000x the general population.
Not good choices but tough ones we had to make. Thankfully, in 2006 he underwent the “perfect” bone marrow transplant at Sloan Kettering in NY at 8 years old. He is now 18 years old and doing quite well at this stage.
I remember our pediatrician calling us with the diagnosis. He told me “it was a good time” to have Fanconi Anemia. I certainly didn’t understand what he was telling me at that time. Research, research and more research were needed but a lot was going on. We embraced all the medical knowledge we could get our hands on. We looked at each and every study; we became more knowledgeable about this disease than any physician or group of physicians we spoke to.
Now don’t get me wrong when I say what I’m about to say. Without the dedicated groups of physicians who are researching and still researching this disease, we would not be here today. But as a parent, we must become smarter than the physicians who treat our children and make sure that what they say is accurate and they don’t ruin what we have worked so hard for - to keep our kids alive and have a good quality of life. We searched and searched for doctors who would partner with us. Those that let us show them the research, question the protocols that were being done and yes, even ask them for proof of results. What was the real world evidence? What was published? Show me your statistics! If you were unwilling to partner with us, you could not join our team.
Those that embraced us are still working with us today. We know we face challenges in the future, but we live life each day. About 30 different physicians are currently following him and they are now “his team”. With each new complication that comes up we still handle it the same way. If someone says something is wrong, we try to educate him or her.
I admire our medical team a great deal. They let us participate in his treatment and his care. We argue, we laugh and yes, we even cry together when we see a child/person die that we all know from this small but very connected community.
I have had conversations with my son at a very young age that I have never had with many adults. He has taught me more about life than any one person. We live life for today. We don’t really plan for tomorrow. We look at life each day as a gift. I’m not sure what the future holds but I do know this - I will continue to challenge, research and know more about this disease than anyone who treats my son. They may have more medical knowledge, but we have instinct on our side. We listen, learn and work together.
Rare disease can overwhelm you and the family. It’s like water torture and a drip in the back of your mind. You can turn down the noise, but it is always there. It wears on you. My advice is to embrace what you have been given. I wouldn’t change a thing in my life. The people I have met, the stories we hear, the courage we see is indescribable. The dedication to cure this disease by the researchers and parents who live with this disease are examples of courage. I have often said that God lives between fear and hope. Find that space. You will make more of a difference in this world when you can control the fear and survive on hope. As Winston Churchill said “Success is not final, failure is not fatal: it is the courage to continue that counts.” And so we continue…
Jeff Hoffman is the Chief Development Officer/Partner of Havas Health. Havas’ rare disease advertising agency was launched in 2012. Jeff lives with his wife and children in New Jersey, and maintains a home in Boston to be close to research and technology that might help his son.