Living with HPP: Cami

My name is Cami Rush and I am the mother to three children. I have an 18 year old son, Connor (diagnosed with HPP around 18 months) and 15 year old twins, a boy and a girl. My boy twin (McKay) was diagnosed with HPP in utero.

I am the caregiver to two teenage boys with HPP.

My oldest son was 18 months old and he had lost two teeth! I was very concerned! I took him to our pediatrician, and trying to answer the question of why Connor’s teeth were loose, he said, “Well maybe he just knocked his teeth extra hard during some sort of fall????” I told the dentist that my son did not fall and knock his face or teeth and that I would have known if he had experienced a fall that hard. He agreed and referred us to a pediatric dentist.

After a long consultation, the dentist said, “I think he has a disease. I’ve never seen the disease in real life, but I’ve heard of it , and I’ve read about it. The disease is called hypophosphatasia.”

I was shocked.

“Ok”, I said. “Now what?”

He referred me to a geneticist at the local children’s hospital.

Tests were taken and lab work was done and our dentist’s suspicions were confirmed: Connor did have hypophosphatasia. I was dumbfounded. I had no idea what this word meant, or even how to say the word! There was no family history; nothing. The geneticist gave us a few papers he printed out of a medical journal and we went home. I was sick. I was crying. I was worried.

We came home and i turned the internet on. I waited the few minutes it took to get the dial-up internet connected. Then I searched and searched the internet about this rare disease. All I found were horror stories. About how children die, how babies die, how they don’t grow, how their bones are always broken, how they have all sorts of physical problems related to the disease. I didn’t know what to do. I had no where to turn and no one to talk to about it. The only thing I could do was hold my baby and pray to God.

As I sat rocking my child and silently praying in my heart, a warm feeling rushed over me and comforted me. I felt a feeling that my child would be ok. That he would live. That he would help others know that having a disease is ok and that you can still be a wonderful, productive part of society, no matter your limitations. After that divine assurance, I was able to sleep that night.

The next days, weeks, and months, were filled with lots and lots of meetings and appointments. Connor was enrolled in physical therapy at the children’s hospital. He was tested and monitored. We were told that when Connor was forming inside my womb, something just went wrong and that was why he had hypophosphatasia. Never, in our wildest dreams, did we think that we would have another child with the disease.

We learned to cope with HPP. Connor’s physical milestones were all delayed, but he eventually got there. His teeth did come out, but he learned how to chew food and it wasn’t a big deal. Physical therapy really helped with his balance issues and we noticed an improvement.

Fast forward three years. I was on the fertility medicine, Clomid, when I became pregnant with our twins. To say we were thrilled is and understatement. We were ecstatic, elated, and grateful. We were so happy to be adding two more children to our family.

At our 20 week ultrasound, the ultrasound tech was very, very quiet. Not talkative at all. We were so excited and just bouncing off the walls, she did not reciprocate the feeling. I started to wonder. I also started to worry. Was there something wrong? Why was she being so quiet and weird?

After about 45 minutes, she said, “I’ll be right back. I just need to talk to the doctor for a minute.” One hour later she came back with a perinatologist (an OB that specializes in high risk pregnancies) and a genetic OB. They had a look about them that immediately told me that something was wrong with one or both of the babies. We were informed that our baby boy had nine fractures. His bones were deformed and disintegrating. They misdiagnosed him with Osteogenesis Imperfecta and told us he would most likely die in utero.

We were devastated. We were crushed. We were wrecked. We cried and we cried and we cried. We went home and it was hard to feel joy at all .Even with my sweet three year old around, I was so down. We prayed for a miracle, but we also prayed to be able to accept what God’s will was for this little one coming to our family.

Lucky for us, about one week later we had an already scheduled appointment with our geneticist for our son, Connor. He said, “I heard about your twin and his fractures. I have some news for you. Genetics says, that if you and your husband have the recessive gene for this disease, if your children have the disease, then they will have the same form of the disease. Connor has the childhood form of the disease. There is no reason for us to assume that your twin baby has OI or that he has the in utero form of HPP”, (which is usually lethal, as some of you know all too well, and for which I am deeply sorry.) Our hearts took courage for a minute. and then we asked, “Ok. What do we need to do to confirm this?” Both my husband, Brett, and I needed to be tested. We were tested and found that we both had the recessive gene. Science said that our baby should have the childhood form. We had some hope that he would live!

Over the next 18 weeks, I was on close watch. I would have an ultrasound every week. Each week the fractures on the baby showed improvement. The doctors were dumbfounded. They were astounded. They could not explain why or how the fractures were healing. We were so grateful. We do not know why our child’s fractures healed and why he was spared, but we are eternally grateful.

McKay was born with no fractures and a small dimple on his upper right arm where the most severe fracture was. He does have the childhood form of HPP and followed suit, almost exactly, to what happened with our older son Connor.

For most of the early years, we navigated this rare disease mostly alone. In the beginning, there was a Yahoo! group where I met several caregivers with children that had HPP. I also met those who had HPP themselves. This group was such a blessing. It was the only lifeline I had for hope about the future. It helped so much to have a place to ask questions; to voice concerns; to learn. I became great friends with some of these wonderful people. Now we have the blessing of belonging to a worldwide organization that supports hypophosphatasia: Soft Bones. We are so thankful for this official place to gather, to ask, and to learn. There are lots of wonderful people in this community and we are grateful for those who work to keep the organization going and growing.

Two years ago, our boys were approved to take StrensiqTM. It has been a game changer. Less fatigue, less soreness, more growth. We have been so happy for a treatment and a plan.

To any who are newly diagnosed: know that you are not alone. Come to the Soft Bones social pages. Introduce yourselves. Ask questions. We look forward to meeting you and having your presence bless our community!