Fibrodysplasia Ossificans Progressiva. Such a long and scientific word that I never thought would roll off my tongue. Called FOP for short, it has become a very important term in our lives. Today, April 23rd, is International FOP Awareness Day. It coincides with the date that scientists discovered the mutant gene that causes the disease eight years ago.
You see, we are part of a very small group of families worldwide that have been diagnosed. It is 1 in 2 million with less than 800 diagnosed worldwide. But I had four years of not knowing. Four years of not living with my heart in my throat worried about another flare up. Four years of him just being Zip. Not “Zip Gordon, the local boy with FOP. “
It is a crazy, horrible disease that turns muscle, joints, and connective tissue to bone.
If the doctors don’t figure out how to turn the mutant gene off, his body will create a second skeleton, trapping him in whatever form his body decides on.
What is even crazier is that diagnosis can happen at birth, and it is missed! Most FOP families go through a long road to diagnosis and usually the doctors, while doing the best they can, do something that can trigger more bone growth in our little guys. Any kind of trauma to the muscle can cause what they call flare-ups. These are bone building sessions that when they are done, leave bone behind, generally leaving a loss of mobility in their trail.
The toes are the telltale sign of FOP. Zip’s delivery nurse turned and said to me, “Who has funny feet in the family? Look at this boy’s toes!”
That was the moment we should have found out.
The moment the doctors and nurses, if educated on the subject, would have slowly turned to us and said…
Well, I can’t even imagine what they would have said. Confusion and fear would have set in. Our lives would have been turned upside down.
But I had four years until the doctors turned to us and said, “I am so, so sorry. We aren’t even sure how to explain this, but it is very serious. You are going to have a long road ahead.”
I am conflicted by this. I am so incredibly grateful that we were diagnosed before the doctors did something to cause more trauma. We walked away from biopsies three different times. Biopsies are very harmful to FOP patients. And we had been given a gift of him being diagnosed by an ultrasound that wasn’t invasive.
But now, almost three years later, it’s time to stand up and not be selfish. To realize it is about the little babies that have FOP and can be diagnosed as safely as Zip was. That’s what being a grown-up is about.
I need to shout it from the rooftops and educate as many as I can in the medical field. “The TOES! It’s as simple as looking at the TOES!”
I have learned that the support of the FOP families from around the world is what gets families through. The support of knowing that in a heartbeat I can get online and connect with other families and ask questions. We may be a small group, but we are not alone. The connection these families have is amazing.
We are fortunate to have Dr. Fred Kaplan, an amazing doctor at UPenn, who can calm the new parents’ nerves a bit and let them know what to expect. He will tell stories of how FOP works in a way that even me, who is not scientific at all, can understand.
He will give hope that an effective treatment is on the horizon.
He will be supportive and answer an email or phone call within minutes. His patients are so important to him and we are lucky to have him and the other doctors on our side.
So today, FOP Awareness Day, I ask you to please shout it from the rooftops with me. Tell someone about the toes. Contact me if you have an outlet where I can educate nurses, doctors, or those caring for small children. It’s critical that we not let another patient be exposed to unnecessary trauma, when it’s all so easy to diagnose. I will be happy and come speak to any group that wants to learn more. There are documents I can mail out to help educate anyone who is interested.
If you are a labor and delivery nurse, print off the picture of the toes. Put it on the wall and tell people about it.
My contact email is email@example.com
Thank you, friends, for sharing Zip’s story and the story of FOP. If you are interested in making a donation, please visit ifopa.org.