My Journey with my Soft Bones:
The only hint my parents had that something was wrong with me was my teeth. My baby teeth had no roots & my secondary teeth had no enamel. I lived a normal kids life with bruises from climbing trees & playing hard; but as far as we knew no broken bones. No family history of anyone having teeth problems so the doctors called it a fluke of nature.
I enjoyed a lot of sports, all types of skiing, tennis & riding horses to mention a few. Not great at them, I was known to be clumsy, but I sure enjoyed the outdoors. It was found that in my early 20’s I was breaking ribs. Every so many months my doctor would find a new fracture. What??? I didn’t feel them break nor did they hurt much. He was confused, I looked & acted healthy so could it be my throwing bales of hay, the many falls from skiing doing this to me? It was written as a fluke of nature. I married and am so lucky to have 2 boys who show no signs of HPP. Maybe mine is a fluke of nature?
In my thirties I was into health; taking a lot of protein, vitamins, exercises, that kind of thing, and wow, I had muscles on muscles. I looked great & felt great. Only problem I had were pains in my feet. I worked in a medical lab & the boss was very upset when I handed her the note from my doctor that I was to wear tennis sneakers instead of those white nurses shoes. I wasn’t in uniform! But no mention of any broken bones, so it must be just the shoes and standing on my feet all day.
Then I changed professions & became a mechanic & supervisor for running machines for a newspaper. A lot of physical stress with that job, but the pay was great. By the age of 42 there was an accident at work with 1,200 lbs rolling on my right foot. Pain, swelling, bruising, oh yeah!!! But no fractures were seen in the ER. As the months went on, the pain was getting worse and as the swelling was going down fractures were showing up. All sorts of blood work & X-rays were done & the ONLY thing the doctors could find was that my alkaline phosphatase was low; but I looked & acted healthy so it must be a fluke of nature. This was in 1995, and a change in my life.
Sometime after the accident, I changed jobs to where I was less physically challenged. For years I had one foot or the other in a cast, or both at the same time, and most of the time for no reason. I could not walk down my stone driveway, carry groceries, open a pickle jar or even window shop at the mall without breaking something! I had enough with 5 years of jokes from my Ortho doctor about saving a cast with my name on it for next year so I changed doctors. I was 47 by then and my Podiatrist agreed with me that something was wrong and did a bone scan.
At 7:30 at night I got a call from the doctor, he said, “I couldn’t believe what the Radiologist told me, I had to see for myself. You have multiple fractures.” Ribs, three bones in my right foot & both femurs. One was half broken through, the other was broken almost all the way through. WHAT? I knew something was wrong, but my PC Dr thought it was because I had changed jobs & was doing more standing still. No thought of broken bones ever came to mind.
Well that opened a new can of worms! Operation for rods in my femurs. More tests, more X-rays etc. More fractures in the feet & the thighs in spite of having rods. More pain than I ever could have imagined. Because it is a rare disease, most doctors have never heard of hypophosphatasia so it took a couple of years to get the right diagnosis. This was 1997, and there was no cure, no treatment; but at least it had a name, hypophosphatasia. Thanks to my doctor learning of HPP, two more women were diagnosed with HPP within that year.
At times my pain was very intense, the body was always trying to heal the broken bones but did it poorly. Alkaline phosphatase is the enzyme like a glue that puts together the calcium and other minerals to make our bones, and my body was not making enough because there isn’t enough alkaline phosphatase. So those Osteoblast cells that have the job of making bones are lazy. There they were loafing around like couch potatoes when six years ago there came along Strensiq, a super soup of Alkaline Phosphatase. They have to be put to work! The body has to produce more of these cells because of the overwhelming amount of alkaline phosphatase in the Strensiq. But it doesn’t just stop there at the bone, alkaline phosphatase is used in so many other parts of the body. As a joke, picture this- the liver wearing a frilly dress can be seen standing on a chair trying to shoo those pesky little enzymes away. The intestines have its janitor sweeping the enzymes down the long pipe & the body goes into extreme fatigue. It never had to work so hard. For me things finally settled down and the body has adjusted just fine except for the fatigue. Of course after discovering HPP it was found I also have rheumatoid arthritis & crohn’s disease, and my body is always in the tired mode. (Yawn) Strensiq hasn’t changed that for me yet.
I am fortunate that most of my pains are mild, fractures in my feet are more like slightly pulled muscles. In fact there are many times I don’t even know I have fractures. Those that I had in my thighs prior to the operation felt like severe pulled muscles that I had 50 Lb weights tied to them and were hurting in the morning, and come the end of a work day I could barely lift my feet. I made many corn bags and used them for heat or ice, whichever makes it feel better. Again for me the rods have helped out so much. It was 6 months of living in my recliner until I could easily move around. Remember though, things could be different for other people. There is a rolled up pillow tucked under my covers for my feet that hate having the blankets touch them. A memory foam mattress has reduced the pressure points so my hips, shoulders, etc don’t hurt, and I should be getting better sleep. I do recommend going to a motel that uses these kinds of mattresses and test them for yourself.
Fears? Nothing frightened me more than to know my body was failing me, and I could no longer enjoy the life I had. I changed my hobbies to ones I COULD do like knitting, art work, & trying out new recipes. It meant so much sadness for my family and me. I was falling apart & there was nothing I could do to stop it. Simple daily chores could mean another fracture. I hated it. I had to face it… this is the cross I must bear. Now I use this disease to help my doctors understand what they have to do when a patient with a rare disease comes walking into their office. I try to teach in simple terms every person I meet be it a phlebotomist, nurse, doctor or just someone I just met about hypophosphatasia, and am so glad it helps me to understand it more.
I Hope that my words will help other people to make it through this a bit easier. In my walks in life I have found that there are many people out there with similar experiences who are so willing to help. Use them, don’t be afraid.
There are organizations, groups, meetings, and people to contact that can help get us through our tough days. I learned that crying about it isn’t making it any better, but talking about it lifts that weight off my heart. It’s been said there are two ways to get out of a chair, one way is to slowly rise, moaning and groaning. The other way is to just get up and go. Both ways hurt, but the first way, you are giving into the disease. The second way, you are taking control of the disease. Don’t quit, don’t give in.
If you would like to make a donation to Soft Bones in honor of Sharon, please click here.