16 years until diagnosis…

Our son Jon has Campodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome. My husband and I had never heard of this illness. It is considered very rare and our doctors had never heard of it either.

Jon had both visible and invisible signs as early as a year old. My husband noticed that he never opened some of his fingers. It turned out that he couldn’t. We saw the pediatrician, an orthopedist, a rheumatologist and finally, a hand surgeon. He had Tenosynovitis in several fingers and trigger finger in one of his thumbs. Ok, why? Regardless of the why, Jon had surgery on both hands to fix his fingers. The doctor told us that with everyday movement his fingers should function normally. They did for awhile.

The rheumatologist suspected Jon had Juvenile Rheumatoid Arthritis (JRA), a diagnosis made by monitoring his symptoms over time. He said Jon had a 50/50 chance of growing out of it after he went through puberty. That was the last somewhat positive statement we’ve heard from doctors.

Over many years Jon endured multiple aggressive treatments for JRA. He missed school to spend the day in the hospital receiving medication through infusions sometimes bi weekly. We had to give him weekly injections at home. He also had daily oral medications for pain or to combat the side effects of some of the intravenous medications. Jon had to endure several procedures to remove synovial fluid from multiple joints. Then there were the monthly blood tests to check that the medicines were not destroying his organs or interfering with their functions.

At two years old Jon received occupational and physical therapy through early intervention services. He has dealt with sensory issues his whole life, likely due to chronic pain. In elementary school he had a 504 plan and eventually, obtained an IEP. He was
classified “other health impaired” due to the pain and discomfort caused by his condition.

One day, we were at the rheumatologist office for a routine visit. As the PA was listening to his lungs and heart I saw her pause a little longer than usual and then a confused look came over her face. She then had the doctor come in and listen and I was told
something didn’t sound right and I needed to take him the heart center. After a complete exam and an echocardiogram we were told Jon had pericarditis, inflammation with excess fluid around his heart. Again, why? None of our doctors could explain why it was there but Jon had to have regular echocardiograms over the
next year to monitor his condition. Thankfully, it resolved itself and he was dismissed from treatment. We thought it was a fluke, possibly the result of a virus.

Around 16 years of age Jon complained to us that he couldn’t bend his legs. His knees had always carried more fluid than normal but this time they swelled to the point of making him almost immobile. We knew his knees would need to be drained again but this time was different. Rather than the usual opaque synovial fluid, the fluid that came out was blood red; two large syringes from each knee. Once the fluid was tested we were told it was in fact 90% blood. The doctor suspected the soft tissue in his knees had gotten irritated. The only thing that made sense was Jon’s recent growth spurt. It was at this time the doctor suggested we get a second opinion from a research hospital.

Off to Children’s Hospital of Philadelphia (CHOP) we went. We turned it into a family trip just to keep things relaxed and positive. We had sent all of Jon’s information to the doctors in advance and it didn’t take long for them to suggest CACP Syndrome. They took x-rays of his hips, feet and hands before we left and told us to get
genetic testing once we got home to confirm the diagnosis. We did just that and it was just what they said, CACP Syndrome; a very rare disease that had no treatment or prognosis. No one was conducting research and he wasn’t going to grow out of it.

Since Jon’s diagnosis, he has been taken off all of his medications except one for pain. He has had additional surgeries on both feet to release the tendons and reposition some of the bones to make it less painful to stand and walk. Jon’s thumbs have contracted almost completely over the last few years. He is hesitant to continue with suggested surgeries for his hands in case they will not work, make things worse or compromise better, future treatments or procedures.

It is our hope that research for better treatments and a cure can begin by building awareness of CACP Syndrome first in the medical community and then globally. In the meantime, we will
continue the fight to lessen the pain and increase the quality of life for our son.  Our family thanks you for taking time to learn about our CACP journey.

Ann and Darrell Fazio