The Latest Diagnosis: Osteogenesis Imperfecta

I know many of you have been keeping up with our story and have been praying for us today so I wanted to give you a quick update.  First, I absolutely have felt your prayers today.  I have been a million times stronger than I ever imagined, and I know it is because of Him and all the prayers that have been going up for us.  So, thank you.

The short update from our appointment today is that the most likely diagnosis for Will is osteogenesis imperfecta (OI).  The main characteristic of this disorder is fragile bones that break easily.  I was not totally shocked to hear this diagnosis because I heard from two different moms this weekend that mentioned OI; one of which said her son had short, bowed femurs around the same time we saw Will's and then at her 26 week ultrasound they saw bone fractures.  I was ready to ask lots of questions today about bone calcification and potential breaks, but it became apparent to me pretty early in the ultrasound that there were bone issues.  The technician kept looking at one of his humerus bones (the long bone that runs from your shoulder to your elbow) and I saw that it looked grey and not totally solid.  The doctor confirmed a bit later that Will does indeed have a fracture in one of his arms and also in one of his femurs.  I am so sad that our little boy is dealing with broken bones in there already.

OI affects people throughout their lifetime, but particularly so when they are young and their bones are growing.  It is caused by a gene mutation error that affects the body's production of collagen.  There are eight different types with varying degrees of severity.  They range from severe, lethal forms to mild forms with few visible symptoms.  We don't know what type of OI Will has and we won't likely be sure of that until he's born and more testing can be done.  His chest is still measuring small, though, which is worrisome in terms of potential severity or lethality.  The doctor did say today that at this point he doesn't think it's lethal.  We will keep a close eye on his chest, though, and we pray that his lungs will be able to develop enough to support normal respiration and life.

I was also beyond blessed to have been connected with a local mom that has been through a very similar diagnosis less than a year ago.  I have already spoken with her on the phone and we're working on coordinating a time to meet face-to-face soon.  She has been a blessing already and called me so quickly to offer support that I was still standing in line checking out at the doctor's office when I got her call.  I am beyond thankful for her and can't wait to meet her and her precious family.

I will update on more details later.  Please continue to pray that God will keep our little boy safe and free from pain.  Thank you also for your continued prayers for us.  I have totally felt God's presence and calming force over me today and it has helped beyond measure.