Monday, April 30, 2012

Wishbone Day

Colton wearing his Wishbone Day Shirt!

Every year on May 6th the Osteogenesis Imperfecta Foundation (OIF) recognizes and celebrates Wishbone Day. It is a day to raise awareness for OI around the world and help people learn and understand what it is. With awareness emergency doctors will learn how to handle a child with OI. With awareness they will be able to raise more money to do research on OI. With awareness we will be able to diagnosis more kids properly and what treatments to use!

Most of you know what OI is because of our family but OI is still categorized as a very rare genetic disorder. Most doctors in different fields still do not know much about OI or how to care properly for a patient with OI when they come into the ER, need x-rays, or other specific care. When I have to meet with different doctors I still get looks of "what are you talking about?" or I get comments like "I have heard of OI but don't know anything else about it".

So please wear YELLOW on Sunday May 6th in support of Colton, myself, and all others affected with OI. :)

Please if you do wear yellow, send me pictures via email or text messages so I can see your yellow shirts! Thanks for your support.

Some random facts about OI

Osteogenesis imperfecta (OI) 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 his or her life time.
  • In addition to fractures people with OI often have muscle weakness, hearing loss, fatigue, joint laxity, curved bones, scoliosis, blue sclerae, dentinogenesis imperfecta (brittle teeth), and short stature. Restrictive pulmonary disease occurs in more severely affected people.
  • OI is caused by an error called a mutation on a gene that affects the body’s production of the collagen found in bones, and other tissues.
  • OI is variable with 8 different types described in medical literature.
    • The types range in severity from a lethal form to a milder form with few visible symptoms.
    • The specific medical problems a person will encounter will depend on the degree of severity.
  • A person with mild OI may experience a few fractures while those with the severe forms may have hundreds in a lifetime.
  • The number of Americans affected with OI is thought to be 25,000-50,000. 
    • The range is so wide because mild OI often goes undiagnosed.

Wednesday, April 18, 2012

3 Months Already

3 months has passed so quickly.  I remember being at UNC on January 11th and all the feelings those appointments brought.  When they said we would have a 3 month follow up appointment I remember thinking that seems like a long time from now.  What do we do until then for Colton?  Are you sure we just keep doing life and not change anything for him?

Well here we are 3 months later and we found ourselves back at UNC today.  BLESSED to say that the past 3 months have been uneventful in our OI world.  I have been honored to meet a few other OI moms in the area, keep in touch with some others via technology, and be part of an amazing OI community on Facebook and Yahoo Groups.  What a great resource and support system for so many facing the daily challenges, emotions and even blessings that this rare genetic disorder brings to so families. 

Today's appointment went well.  We only had one appointment with the endocrine department just to do a routine check up on him.  They did normal baby checks (height, weight, head circumference, body temp) and then we met with the doctor.  Overall we did not find out much new about him and I praise God that it seems like so far he is growing and learning like any other 4 1/2 month old baby boy!

I would say that I am pretty convinced now I plan to get a second opinion for Colton.  I think our doctor at UNC is very knowledgeable but I just would feel better seeing another doctor or two in the area or not in the area that specializes in OI care as well.  I have seen a lot of specialist in my life for various health related issues and I always lean towards getting second opinions.  And so when it comes to our son, I feel no differently.  I have been talking about doing this for awhile but honestly at times it is just easier for me to kind of "forget" he has OI.  We handle him and treat him no differently right now (even if maybe we are suppose to).  So there are times I just ignore the fact that he has it and choose not to deal with the emotions and feelings it brings up and the questions it brings up regarding my faith.  I think that is why I have not called any other places to make more appointments to take him.  But after today I know deep down in my heart I need to.  Daniel is indifferent to it but doesn't seem to think it is a bad idea!

So we will continue to go to UNC for now but I do plan to have some other appointments scheduled in the near future.  I am working on some names and referrals.

But for now the plan is as follows...

* Colton will go back to UNC in July for a 3 month follow up.  We should expect this appointment to be a longer day again because we will see his Endocrine doctor, he will get spine and femur xrays to check for bowing, fractures and/or compression fractures, and we will be checking his vitamin D levels with blood work.