Things Just Got Real
I started Rare Disease United Foundation three years ago, after Olivia sailed through spinal cord surgery for a tethered cord. I wanted to do something to make this awful, awful journey just a little bit better. The idea was to have a World Rare Disease Day that was non-disease specific. That’s it. Once a year. I don’t know when everything changed. It was not one specific event, it was a slow transition.
Olivia was born small, about 5 lbs. There were things they noticed right from the beginning. Something was wrong with her pinky finger. She had a deep sacral dimple. We went to the geneticist and were given the okay! Crisis averted. Olivia was slow to reach her milestones, but she always ended up getting there. When she turned two, I noticed she had brown spots on her torso and neck. After visits to several dermatologists, some helpful and some harmful, we ended up at Boston Children’s Hospital. She was diagnosed by the head of Pediatric Dermatology with Hypermelanosis of Ito. They told me the disease could be devastating, but for Olivia it would only be cosmetic.
Nope. Not cosmetic. As she grew, Olivia’s hands and feet became misshapen. Her scoliosis kept getting worse. Olivia had severe ezcema and allergies as a baby. She ended up having 7 sets of tubes, two endoscopic sinus surgeries(they are operating within an inch of the brains and eyes), surgery to remove a benign tumor and spinal cord surgery. It was hard. So many doctors appointments, so many tests and scans and MRIs. They were throwing around things like Cystic Fibrosis and it was hard.
As RDUF started to grow, I heard many stories of rare patients and parents. Stories that broke my heart, but not my spirit. I wanted to help the rare disease community. I considered myself one of the lucky ones. My daughter was doing great. I could help people because I understood how hard living rare was. I had carried my daughter into surgery 17 times. I was a warrior. I didn’t understand how hard living rare can be and I’m not a warrior.
Six months ago, Olivia complained of pain in her jaw. Because she had an overgrown mandibular on one side, I assumed it was from that. I took her to a specialist in Boston on the recommendation of a doctor in Providence. Olivia’s teeth were falling out. They also found that she had Chiari malformation, which is when the brain is pushing onto the spinal cord.(It’s difficult to write in layman’s terms when you have been speaking doctor for so many years.) A few months later, Olivia started complaing of back pain. Olivia doesn’t complain, ever. I waited about two weeks before I took her to the doctor. MRIs, scans, blood work, all didn’t explain the pain. Unexplained pain is unacceptable to me. I want and need to know. I don’t want a bandaid, I want an answer.
Olivia has always loved food. She had a great appetite and ate everything I put out. She was more interested in the food they had at Disney, then anything else Disney had to offer. We have a small bakery a couple of blocks from our house. My kids like to go there for snacks in the afternoon. A couple of months ago, Olivia asked to go to the bakery. I gave her a few dollars and she headed out. She was back within minutes. She had gotten about 100 feet and she couldn’t take the pain anymore. She turned back and my world shattered. Things just got real.
We have physical therapy every day, except weekends. Olivia needs surgery to remove her teeth, biopsy some cysts in her mouth, bone grafts, gum grafts, reconstructive sinus surgery and brain surgery. What is behind the pain? Olivia has Ehlers Danlos Syndrome and so does Hana. Hana has begun physical therapy so she can become stronger than this disease. Olivia needs a wheelchair for longer distances. They will never play tennis again. Of all the things they have lost, I keep thinking about the tennis. I have pictures of us at the courts this summer. Sometimes, it’s the little things.
Now, do I know how hard living rare is? No. I know it can be harder, so much harder and so I try to live in the moment. I try to remember that I am the one that could make it better with a bandaid and a kiss. So I am going to mourn and go to doctors appointments and work and cry and the entire time I am going to fight.