About Osteopetrosis

It Is Time To Stand Tall And Share My Story

I'm Lynsie and I have a highly rare bone disease called Osteopetrosis. (Osteopetrosis; Not to be confused with the very common Osteoporosis). Probably back in 2008 no one would have been able to get me to admit that I had any disease at all. I was ashamed of it, and I was was afraid of being different in the sense that made me appear weak to others around me. For years I have been praying and asking God to heal me of this disease, and I did believe that he wanted me to be healed. I thought that once God healed me I would have an amazing testimony; A testimony that I could share about all that I have gone through and all that God has helped me through. Continuously, time after time I felt let down by God after I've continued to break one bone after another. However, just recently God has shown me that what he wants for me right now is to stop focusing on wanting to be healed and free from this disease, but that I am to talk about it, be open about it, and share it with those around me. Because how I live with it, fight through it, and rely on God for strength to get me through each and every day is my testimony. And so, for the first time in my life, I will be open about my disease. So here it goes. Hello, my name is Lynsie Petig, I have Osteopetrosis, and this is my story.

About Osteopetrosis

First let me brief you a little about what Osteopetrosis is. There are two bone cells in your body that are involved in the modeling and remodeling of the bone. One cell is called an Osteoblast cell. This lays down new bone. The other cell is called an Osteoclast cell, it remodels the old bone by eating it away so the Osteoblast can lay down new bone in it’s place. See how this works? It is a harmonious joint effort between these two cells that keep our bones new, strong, and healthy. Well, in my bones my osteoclast cells don’t work, or rather they’re “lazy”. I don’t have a cell coming in and cleaning up old bone. All I have are Osteoblast cells laying down new bone on top of old bone that could not be absorbed by my osteoclast. This makes my bones dense, more brittle, and therefore extremely easy to break. Osteopetrosis is so rare that, even your local physician might furrow their brow in confusion at the mention of its name. Osteopetrotic bone fractures so incredibly easily that just a slight trip, bump, or fall, that any normal individual could walk away from, could very well cause a broken bone, hospitalization, surgery, and a cast for several months. Not only do individuals with Osteopetrosis fracture all too easily, the recovery time for them is double or even triple the amount compared to a broken bone without Osteopetrosis.


A Little Bit About Me

I was first diagnosed with the disease at age 12. I was born in the year of 1987 and I have broken a total of 10 bones in the sum of those 11 years. I have had many surgeries, I have been bed stricken in a few Partial body casts (called Spica casts) for up to 5-6 months at a time, I have used crutches more times than anyone should ever have to, and I have had more than my fair share of painful physical therapy that sometimes hurt even worse than breaking the bone itself.

Somewhere around 2014 I was diagnosed with Fibromyalgia. It causes my whole body to be in constant pain. Mornings are the worst. Waking up and getting out of bed is a battle. Personally my husband and I kind of think it might not even be "fibromyalgia", but the that it might just be a symptom of my disease. and since there is almost hardly any knowledge about Osteopetrosis, the Dr just didn't know what else to call it. But that is just a guess, Because the Dr did say Fibromyalgia can occur after a long time span of stress and heartache, which fits accordingly as well.


There Are Three Different Forms of Osteopetrosis:

1) Infantile Osteopetrosis
The most severe form, in which an infant is born having this disease. Their bones are so brittle in fact that they resemble the substance of chalk. When the mother gives birth, the baby’s clavicles may actually break as the baby passes through the birth canal. In normal bone Bone Marrow cavities are hollow canals that store and supply the body with white blood cells. In Infantile Osteopetrotic bone they do not form. This case is severe enough for a bone marrow transplant (which is surgery involving high risk, and is only used in life threatening cases) without it, these children typically do not live past the age of ten. This form is recessively inherited by a family member, meaning a family member is a carrier of the gene without actually having the disease themselves, but is capable of passing it onto their offspring.


2)Intermediate Osteopetrosis
This is the type I have. It is slightly less severe that the one first discussed above, but is much worse than the third form that I have yet to mention. In the intermediate form, Osteopetrosis usually will not present itself until around the age of ten or so. The bone is still like chalk, and can easily break with very slight impact. A small bone marrow canal might be present. Like myself I do have a bone marrow canal, however it is abnormally thin in diameter. Life expectancy for this category is unknown. There is in fact no family history to trace back the genealogical footsteps of this “inherited” form. My Doctor says that I must have inherited it from my parents but there are virtually no recordings of this disease in my entire family tree.


3)Adult Onset Osteopetrosis
Adult Onset is less severe than all three forms. It does not usually present itself until the age of 20 and is often diagnosed incidentally.


The Affects of Osteopetrosis
Osteopetrosis can cause: small stature, highly frequent bone fractures, hematological problems, headaches, impairment of the immune system, neurological problems, cerebral calcification, mental retardation, and also deafness and blindness (due to nerves being compressed by bone).