A Mother’s Story

Matthew is fascinated by trains.  I can’t even begin to tell you how many trains he has, but he knows each one.  Hell say something like, “Mommy, will you go get the blue caboose and the green passenger car and the tank car and the flat car with the logs, please?” I will have no idea what he is talking about until I check out the train bin where, sure enough, there are train cars matching those descriptions.  I refer to him as a trainiac!  He goes around talking about coupling rods and tenders and things like that.  He is one smart kiddo, always impressing us with the things that he knows and remembers.

Matthew is like a “mini grown-up” at times.  He can be serious-minded but also has a funny little sense of humor. Awhile ago, he just decided that he was not “cute;” rather, he preferred to describe himself as “charming.” He persists in correcting anyone who calls him “cute,” which is practically everyone, because he is very cute … err … charming.

I feel so blessed because even when hes driving me crazy being a 4-year old, it occurs to me that a lot of people believed this child would not survive infancy because he has Osteogenesis Imperfecta … and yet, here he is.  That thought puts everything into perspective for me.  When I was 18 weeks pregnant, a routine ultrasound revealed that Matthews limbs measured short. A more detailed ultrasound one week later showed bones already broken, including ribs and femurs.  For the first time, my husband and I heard the words “Osteogenesis Imperfecta,” and we were told that in our case, the prognosis was not good.

Osteogenesis Imperfecta (OI) is a collagen disorder that results in bones that are easily broken.  It is also referred to as brittle bone disease.  In addition to fractures, other common symptoms include short-stature, muscle weakness, loose joints, brittle teeth, hearing loss, spinal curvature, and bowed bones. Like many medical conditions, OI comes in a spectrum of severity and symptoms, ranging from perinatally lethal to severe to moderate to mild. In severe and lethal cases of OI, difficulty in breathing is another serious symptom.

Despite some pretty grim forecasts when he was initially diagnosed, Matthew is quite alive and kicking!  Matthew was born very healthy. He was one of the healthiest babies in the NICU, though he did have one new fracture and lots of healing ones.

He has shown time and again that he has an amazing, inspiring, unbreakable spirit that defies his size and strength.  We are just so proud of him.  OI is a progressive condition in that things can change very quickly, and medical problems can generally get worse with time if they are not corrected (usually with surgery).  For instance, one fracture could set Matthew back for months because of the downtime for healing and then the physical therapy needed to regain muscle strength.  Since his birth, Matthew has had numerous fractures: I estimate maybe 16 fractures and uncountable “micro fractures” or minor injuries (after awhile, you start to lose count).

Matthew has had four rodding surgeries. Straight bones don’t break as easily as bowed bones. Furthermore, the rods act as internal splints, so although Matthew still fractures these bones, the rods provide stabilization and minimize the pain.  He has telescoping rods (called “Fassier-Duval” rods) that grow with him in both tibias and femurs as well as a wire in one humerus. The rods have made a tremendous difference in Matthew’s life.

Matthew also has had numerous intravenous infusions of a bisphosphonate drug called, pamidronate, which strengthens his bones. Strong muscles help support bones, so he has also had physical therapy since he was four-months-old.  All of these treatments – the rods, pamidronate, and physical therapy – have enabled Matthew to do so much more than he could have done without them.

We had seen a number of orthopedists since Matthew was born, and for various reasons, they werent working out for us. Another OI family recommended Dr. Sharps.  At our first appointment with Dr. Sharps, Matthew was 19 months and had a painful femur fracture.  For us, Matthews orthopedic care just “came together” with Dr. Sharps. I feel like he is on our team. When you deal with a lot of doctors and specialist and therapists, feeling like there are medical professionals on your side is huge.

Dr. Sharps actually listens and responds to our concerns.  He just has an easy-going nature about him.  I’ll never forget the time when Dr. Sharps read to Matthew from one of his story books. No other doctor has ever done that with us.

When Matthew was very young, we were told Matthew may never walk. Wrong! When he isn’t fractured or recovering, he can and does walk around the house. At school, he usually uses a posterior walker for safety. For distances or when recovering, he uses his wheelchair.  (Though, for what it is worth, walking isn’t everything. We are all about promoting independence, and using a wheelchair is a wonderful and safe way he can explore his environment like any other four-year-old.) We got his “TiLite Twist” just before he started preschool this year.  It is a great chair. Matthew loves it. The front wheels light up and he can go fast!

Matthew experiences chronic pain, yet he rarely complains of pain or lets that stop him from doing things.  Since Matthew is only four, I’m not sure if his indefatigable nature is because of his age, or if its just something that goes along with OI.  At the OIF Conference this past year, the keynote speaker (who has OI) talked about the OI gene being the “no quit gene.” I think there may be something to that!

You can learn more about Osteogenesis Imperfecta at www.oif.org.  May 6 is Wishbone Day.  Please wear something yellow to help raise awareness of OI!