Our visit with Dr. Kaplan was simply amazing. Our day started with each of us donating three vials of blood for FOP research. Brennan took it the worst. Alan went in to help Brennan but Brennan was inconsolable. Dr. Kaplan’s assistant waved me in to help out. I had to give him a big bear hug and restrain his feet with my legs. After it was over Brennan was talking like it wasn’t a big deal. Larkin screamed as well but handled it much better than Brennan. Of course Erin was the best out of all three. Poor thing is used to having her blood drawn.
We met with Dr. Kaplan after lunch and talked for several hours. Here are the basic details that we learned about FOP:
1. Think of FOP as a leaky faucet. Those with FOP, the gene is either leaking or is exploding. Right now, Erin’s is exploding since she currently has a flare-up.
2. In theory, either the egg or the sperm that fertilized was defective. At conception, as Erin’s DNA was replicating, the damaged was done to her second chromosome on the long arm on the ACVR1 gene.
3. The DNA sequence in the gene tells the gene what type of protein to produce.
4. That gene produces different types of proteins. Since Erin has a damaged ACVR1 gene, her body produces proteins that cause FOP. The good part of the gene also regulates internal organs such as the liver. The challenge to the researchers is how can they block the FOP protein and not block the other essential processes.
There are mice models (in a separate lab who are quarantined) which have been affected with FOP. We were unable to see them since they are off site. Their immune systems are so pure that if taken out of quarantine they would die. Dr. Kaplan says the mice even have the FOP toes. The mice have played an important role in drug development. The FOP lab is working in conjunction with a team of cardiologists at Harvard University. According to Dr. Kaplan, they may be 5 to 6 years away from clinical trials on a drug which would slow down the FOP protein from being produced. He couldn’t say who would be the first to go through clinical trials, but he did say it would not be a pleasant experience. There very well could be unexpected side effects. However the patient would be under the microscope the entire time.
Like I said earlier, our meeting with Dr. Kaplan was life changing. Walking into the FOP lab was emotional for me. The hallway of the lab is covered with people with FOP. These beautiful faces smiling and the names of people who have donated/raised millions of dollars for FOP research. Then we saw first hand how hard these researchers are working. We walked in the lab around 4:30PM on a Friday and everyone was working on their projects. Each of them stopped and took time for us. They posed for pictures and answered questions. We met Mei Li who actually discovered the gene. They had to keep the discovery under wraps for four months just to make sure they had it right. We also met Eileen Shore and thanked her for developing the genetic test that is used to test for FOP. She has a M&M candy machine in her office that the boys attacked.
After the tour, Dr. Kaplan took us to the hospital cafeteria and bought the kids ice cream for being brave and donating their blood to research. By this time Erin was finally warming up to Dr. Kaplan. They played with her stuffed animals and he hugged and kissed her. We are truly lucky to have him on our side. He no longer practices general orthopaedic surgery. He only sees FOP patients. There was another FOP family there at the clinic before us. I don’t know who they are but hopefully they will become active with the FOPonline group.
Going back to clinical trials… We were excited to hear that they may be 5 to 6 years away from testing on FOP patients. Now I am scared. Dr. Kaplan threw out questions on deciding who would make a good candidate. Do you test during a current flare-up? Do you test an adult whose is immobile? Do you test a child? It’s a scary thought. There are so many unknowns.
