Brittle Bones, Tough Spirit

By Janine Donnelly (Guest Blogger)

I had never heard of Rare Disease Day until I received an E-mail about it two weeks ago from the Osteogenesis Imperfecta Foundation.  I went to Facebook to check it out, and here I am writing a short blog post that I am optimistic people will read.  My hope is people that have been impacted by rare or undiagnosed diseases, and perhaps even those who have never heard of them, will see this and stop for just a moment to think about how rare diseases touch the lives of so many people.  Hopefully, I can give a little insight to how it has touched my life, and maybe bring some awareness and understanding to OI.

My eight year old son, Evan, has Osteogenesis Imperfecta, Type IV, which is a genetic disorder characterized by fragile bones that break easily.  It is also known as “brittle bone disease.” A person is born with this disorder and is affected throughout their life.  The number of Americans affected with OI is thought to be 25,000 to 50,000 (some sources even say the number is as low as 6-7 per 100,000 or 16,320 people in the US).  I didn’t really realize how rare OI is until this year – 25,000 to 50,000 seems like a lot of people but it reality it isn’t.

Evan was diagnosed when he was one year old and just learning to walk.  He had fallen down and broke his elbow – the rest as they say is history.  No one in our family had previously been diagnosed with OI, Evan is the first.  Until late last year, we had never met another family with OI.  A lot of members of the OI community are out there on their own, without any substantial support system at all.  It is very difficult to meet people who really understand what your life is like as the parent a child with OI.  Even within the OI community, it is difficult to relate to each other because this disorder is so different for all.  You see, there are eight different types of OI, and they range in severity from a lethal form to a milder form with few visible symptoms.  Sometimes what is “severe” for some may be a cake-walk for others.

My family has been dealing with Evan’s breaks for seven years now.  He is up to more than 40 breaks now, and while to many that sounds like a lot for some OI children it doesn’t even compare.  Evan tends to break his lower legs six to seven times per year.  He has rods in each lower leg to help with the breaking and a pin from the wrist to the elbow in his right arm to repair a badly broken arm.  He has his own wheelchair for when his leg is broken and probably spends 75% of each year in it.  I am not complaining, however, because he can still walk, and we are thankful we have the wheelchair for when he needs it.  He breaks his brittle bones so often that we don’t even panic anymore – we have a set of questions we run though and we keep an emergency hospital bag in the car ready to go.  When it happens in front of other people, they think we’re crazy.

Osteogenesis Imperfecta has changed our lives, my whole family, in many ways.  Evan has the most amazing spirit and personality.  He is always upbeat and positive no matter what happens to him.  He has been through “rodding” surgery three times and “pinning” surgery twice, and it never slows him down.  He just goes with the flow, which makes things a little bit easier on the rest of the family.  OI has been difficult on his sister, Moira.  She is now 10 and has had to deal with Evan getting more attention, both at home and at school, because he is “broken” so often.  She takes wonderful care of him and helps him when he needs it, but she has days when she thinks it is not fair and expresses it.  And she is right on some levels, but how do you explain that so she understands?   It can be hard on my husband and me too – juggling our schedules so Evan makes all his various medical appointments, making sure our daughter is taken care of, etc.  However, OI through Evan has taught us better understanding and patience.  It has shown us the things that are really important in life are family and spending time with them.

Dealing with Osteogenesis Imperfecta can be stressful, but dealing with people who don’t understand OI can be even harder than dealing with OI itself.  It is incredibly challenging when your boss doesn’t understand why your son breaks his bones so often.  It can be difficult when others don’t seem to understand why Evan needs helping going to the bathroom when he’s in a wheelchair with two broken legs in full leg casts.   People ask questions such as, “Will he outgrow it?” or “Can’t you just give him more calcium?”  They just don’t understand how OI works.  Sometimes people just say things that are just not true, like “Once he stops growing, he’ll be fine.”  I know these people are just trying to be nice or trying to understand but it’s still hard to get over.  And some people are just plain insensitive.  A co-worker once told me that hopefully my son would decide to never have children because “you wouldn’t want to pass that on.”

As OI is a rare disorder, there are very few people who do research and offer treatment.  The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) in the National Institutes of Health (NIH) in Bethesda, MD, offers a special program that we were lucky enough to find through our doctor here in New Mexico.  The treatment and care he receives there is wonderful and the best thing we could have done for him.  Evan receives a Pamidronate Infusion every three months and a growth hormone shot daily as part of the study.  So every three months Evan and I travel to Bethesda for treatment.  Because of this study, Evan has gotten taller, his bone density has improved and his overall strength has improved.  Many people think that because he’s part of a medical study with the NIH, that the care here in NM inadequate.  I want to say that is really not true – he receives excellent care here.  The University of New Mexico Children’s Hospital is one of the best in the country.  However, a clinical trial includes a whole range of additional treatments and appointments that you would not normally receive because it is a research study.  This particular study is looking at the effects on the whole body and is run by a team of doctors in varying fields (Orthopedics, Genetics, Physical Therapy, Cardiology, etc.) by those who are considered experts on Osteogenesis Imperfecta.  OI is all they deal with, which gives me and my family more confidence, in comparison to a doctor who may have never seen a patient with OI before because it is so rare.  Evan’s doctors here at home work closely with the NIH doctors and together they give him the best care possible.

Although Evan still breaks his bones a lot and we face many challenges ahead, I really wouldn’t change a thing.  Evan is who he is because of the challenges he faces.   He has amazing hope and faith, which helps me to share that hope and faith.

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Please note that Rare Disease Day is coming up February 28, 2010.

Rare Disease Day
If you would like more information please visit the website http://www.rarediseaseday.org: or Facebook page: http://www.facebook.com/rarediseaseday2010

If you have any questions, feedback or other stories to share please submit a comment via the links below:

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~ by marbleroad on February 22, 2010.

8 Responses to “Brittle Bones, Tough Spirit”

  1. Hi, i have a 6 months old gal, during my pre-natal scan her right femur was bowed which made the dr suspect she has OI. But till today dr cannot confirm the diagnosis, i will like to ask what tests did the dr do to confirm that your son is type IV? Is it correct that i have to wait for her to have more broken bones to confirm the diagnosis?

    • Evan only had one broken bone when he was diagnosed. We went to a genetic doctor who took a blood sample and punch biopsy. The samples were then sent to Dr. Peter Byers at Washington University in Seattle. A punch biopsy is usually a small punch of skin taken from the forearm then grown in a dish for testing. It tooks about nine months for the complete report but they were able to give us some answers fairly quickly initially. I hope this helps – please let me know if there is anything else I can help you with.

      • Hi, I have a son who just turned 2. In January of this year he broke his leg. I was standing right there and he was just standing there, he turned but his leg didn’t turn with him. I took him to the er, and the Dr.s first words to me were, “either he has a bone disease, or this was abuse”… Well knowing this wasn’t abuse I was and have been very worried. I had to push for some testing to be done, all the doctors I have gone to have treated me horrible, and I don’t know what else to do… His pediatrician did a couple blood tests and they came back fine. I just can’t shake the feeling that he has something wrong with him, he often complains of his hands and feet hurting… my question is is there a certain test that I should be requesting? I just don’t know what else to do sorry this is so long, im just tired of doctor’s looking at me like im crazy. Thanx for your time.

  2. “It is often, though not always, possible to diagnose OI based solely on clinical features. Clinical geneticists can also perform biochemical (collagen) or molecular (DNA) tests that can help confirm a diagnosis of OI in some situations. These tests generally require several weeks before results are known. Both the collagen biopsy test and DNA test are thought to detect almost 90% of all type I collagen mutations.”

    [http://www.oif.org]

  3. For More Information About Osteogenesis Imperfecta and Other Related Conditions:

    NIH Osteoporosis and Related Bone Diseases
    National Resource Center

    2 AMS Circle
    Bethesda, MD 20892-3676
    Phone: 202-223-0344
    Toll Free: 800-624-BONE
    TTY: 202-466-4315
    Fax: 202-293-2356
    Email: NIAMSBoneInfo@mail.nih.gov
    Website: http://www.niams.nih.gov/Health_Info/bone/default.asp

  4. Hi Noel, I am so sorry to hear about how you are being treated by the doctors. OI is not something they see a lot of so I’m sure they think you’re over-reacting. I’m really sorry to hear about your son breaking his leg like that. There is nothing worse then witnessing when your child breaks like that. If you really feel like there is something wrong then you have to follow up on it. You’re not crazy – you know your child. Evan had a skin biospy done by the University of Washington in Seattle by Dr. Peter Byers to confirm his OI. We had to go see a genetics doctor and he ordered the test for us. Also, please check out the OI Foundations website at OIF.org. They have a lot of great information – when we reviewed the signs the their website we knew Evan had OI. He had 6 out of 8 of the signs. I would really like to talk to you more if you’re interested.

  5. hi i have a grandson who we think has oi we had him tested on sept. 21 waiting on results he had 9 rib fractures and later had a femor break the baby was taken from his parents and still has not went home his grand mother has him we need help so bad so if anyone has any advice let me know LOVELL

  6. Hoping everyone is doing alright. Wanted to let you know we are holding a little contest – the Rare Children’s Storybook Project… A children’s book about the effect a rare diagnosis has had on your family could earn you $750 to help with health care related costs. Please scope it out over at http://www.myrarestory.com!

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