My name is Rick Kelly, and my wife, Josie, I are the proud parents of Forrest. Forrest has a rare bleeding disorder called afibrinogenemia, or Factor I deficiency. This is the story of afibrinogenemia in three anecdotes that explain what afibrinogenemia is, the current state of treatment and its outlook for the future. In sharing our family’s stories, I intend to highlight the unique challenges a tiny population with a very rare disorder experiences and outline our hopes for the future.
Diagnosis & Overview
In September 2013, I sat next to Josie, and our infant son, Forrest, inside a clean hospital just south of New Delhi, India. Work opportunities had taken us to India shortly after Forrest’s birth. Early on, we had a few scares with Forrest’s bleeding issues, but a lack of family history and misdiagnosis meant that we had few concerns moving to India with our precious boy.
Soon after arriving in India, Forrest – who was three months old when we moved – began developing numerous bumps and bruises across his body. We were confused and concerned as to what the problem could be, especially as neither Josie nor I knew we both carried a gene mutation that could lead to afibrinogenemia. With the encouragement of family members and friends in the medical field, we decided to seek another opinion on Forrest’s condition.
Now, sitting in the lower level of a foreign hospital almost 8,000 miles from home, we were about to hear the most dramatic news of our life.
The doctor sitting across the table cleared his throat and began, “Your son has afibrinogenemia. This is a very rare and very serious bleeding disorder that could result in major trauma or death if not treated properly.”
Josie burst into tears and I stared blankly at the doctor as he further explained the condition to us.
“Fibrinogen is also known as Factor 1. Fibrin, the protein that your son’s liver does not produce, forms the mesh across a wound that helps hold a clot in place. Fibrinogen is the last factor in the clotting cascade, and without it, the clot simply cannot form. Based on our tests, your son produces no detectable amount of fibrinogen, which means he has the most severe of cases.”
“Congenital afibrinogenemia may either occur through a gene mutation, or more likely, it is passed on to the child by both parents as it is an autosomal recessive condition. The condition affects both males and females equally, and there are fewer than 1,200 known cases in the world.”
“Look,” he continued, “I’m not going to tell you what you must do. But I can tell you that we do not have the necessary treatments for your son in India. I urge you to return home to the United States as quickly as possible.”
Within days, we were on a plane back to the US, full of questions and bursting with anxiety.
Connections and Community
Like many people managing a new challenge, we turned to the internet for support. We connected with people on Instagram and Facebook by searching #hemophilia. This group of people were our initial connection to a beautiful community of people we knew nothing about. In that community of online hemophilia, we found support and parenting tips for managing Forrest’s care. Still, we really wanted to connect with other people with Forrest’s condition.
On a cold spring morning, I laid on our couch while Forrest scooted around on a rug which sat on an extra thick carpet pad;a futile attempt to prevent bruises that come with a small child starting to explore his bodily capabilities. As many of us do or wont to do, I opened Twitter and after scanning for news, I searched for #fibrinogen. I scrolled through many posts – most of which were banal tweets from overeager AP Biology students sharing a passage from a textbook.
However, one tweet in particular caught my eye. It had been posted by someone looking for people with afibrinogenemia. I followed the account and quickly sent a message to the account owner explaining our situation. Within a few hours, we were added to an email listserv of people throughout the world that also have afibrinogenemia.
I’ve found a wonderful connection with the people on this email listserv and on a small Facebook group for people and families affected by fibrinogen problems. Like all bleeding disorders, people with fibrinogen deficiencies come from all walks of life. We’re connected to people in Japan, Switzerland, Pakistan and many more places throughout the world. Communicating with this group has been one of the personally fulfilling events of my life – not only do we receive help and advice from other people, but we’re able to make a positive contribution as well.
Throughout our communication with this group over the past two years, one thing has become certain to me – the variability of care for people with fibrinogen disorders is far too great. My son, Forrest, has a port and receives regular prophylactic infusions of fibrinogen. Others are not so fortunate. A fibrinogen concentrate has only been available for a few years in the United States, but there are many people who do not have regular access to the highest standard of medical care. My sincere hope is that the same communication channels that enabled us to connect with people suffering from the same condition will enable medical professionals to communicate fluidly enough to define standards of care for fibrinogen disorders.
Future of Treatment
By March 2015, Forrest had received a port and we (well, mostly Josie) had begun infusing him at home. Both Josie and I, along with most of our siblings, had been diagnosed with hypofibrinogenemia, which means we don’t produce normal fibrinogen amounts but we also produced some fibrinogen. By this point, we’d settled into a routine of managing Forrest’s care and had gotten involved with local and national hemophilia groups.
At HFA Symposium 2015, Josie and I attended a session on the future of hemophilia treatment hosted by a panel of esteemed medical professionals. The mood was upbeat and positive; almost universally, the doctors on the panel believed that the management of hemophilia would greatly improve over the next several years. New pharmaceutical products and potential gene therapies could mean that hemophilia would be de facto eliminated as a regular concern for most people.
I listened intently for any mention of fibrinogen conditions, knowing that the likelihood of them being discussed was unlikely. Finally, during the audience question and answer period, I raised my hand to ask a question I already knew the answer to.
“Hi, I’m Rick, and my one-year old has afibrinogenemia. Can you share your outlook for treatments for his condition? What do you think the likelihood of progress is in this area?”
I watched one of the panelists breathe deeply and then begin to speak, “Uh…that’s a good question…really, I don’t know how to say this other than the outlook for rare bleeding disorders like afibrinogenemia is about the same as it is today. Frankly, there are less than 150 known cases in the United States and I think it’s highly unlikely that most pharmaceutical companies will pursue further therapies with such a small market…I’m sorry.”
The other panelists nodded in somber agreement.
I had known the answer – that the likelihood of any progress was essentially zero – before I opened my mouth. But still, the hearing the answer caused a visceral reaction I had not expected. I felt as though I had been sucker punched.
Shortly after the panel ended, I returned to my hotel room, sat in a chair and cried for my son for a minute. He is my darling boy, and it pains me to know that treatments for his condition are unlikely to improve dramatically. But more than just Forrest alone, I feel sad for the hundreds of other people throughout the world who do not receive adequate care. There are parents like me who want not just better treatment – but any treatment – throughout the world and the United States.
Room for Optimism
While the relatively small market size does not bode well for the pace of progress within Factor I deficiencies, there is still room for optimism. We have a burgeoning community that continues to develop online. I’m confident that increased communication between medical researchers will lead to increased standards of care that allow others to receive the same quality of care that Forrest does.
And genuinely, there are many ways in which I’m grateful for our experiences. Being so near tragedy has enabled me to be more open to life and to form deeper connections with my wife and son. When almost anything could go wrong, we find ourselves holding our son tight every night.
Rick and his wife Josie live in California with their son Forrest.