Sonya had her follow up appointment with her geneticist, Dr. Deardorff, today at Children's Hospital of Philadelphia to discuss her new found diagnosis of Osteogenesis Imperfecta type 3/4. I basically had all of my research confirmed with a few extra tidbits that I did not know about beforehand. We didn't have any further testing done today, as we need to schedule appointments to do so. Dr. Deardorff has ordered new x-rays, a complete bone density scan, a hearing screening, dental treatment, and physical/ occupational therapy.
The x-rays will help us determine if she has had any fractures recently as well as some possible healed fractures we have been unaware of. Her bone density scan will serve as a baseline for comparison down the line when she later starts to experience more fractures. Pamidronate, the drug commonly used to treat severe OI that I posted about before, will possibly be used if Sonya experiences a good amount of breaks and her bone density decreases. I learned that Pamidronate does increase height growth before speaking with Dr. Deardorff, but have learned from speaking with him that it is not a substantial amount... we're talking about 7 centimeters! We also talked a bit about rodding surgery, which is also common treatment for brittle bones. The surgical steel rods would be inserted into her femurs and possibly her tibia's in effort to decrease the amount of fractures or at least the severity of the fractures. This may only be a few months to a year in our future. Everything depends on how many fractures she sustains as she is starting to bear weight on her legs now and she is trying to stand. It is not uncommon for a child with her type of OI go this long without fracture as most of the breaks start to occur around the time the child learns how to stand and walk all the way through adolescence. From what I have read the fractures tend to taper off at about the age of 16 years and then start to become severe again for women around the time of menopause.
As far as the hearing screening goes, we are pretty concerned. Hearing loss can range widely in people with OI and it goes hand in hand with the severity (type). Sonya was saying "mama" a while back (4 months or so) but has dropped using it completely (*sigh*). Her only word that she uses is "dada" at this time (13 months old). I know every child has their own timeline for milestones especially our little ones, but I worry as well as her geneticist does that there may be some hearing loss for Sonya. To what extent we will have to wait until after her screening to find out. Not to compare or anything, but Zoe who is now 7 years old was saying simple sentences like "dat mine" (that's mine), "I ya you" (I love you), "I hab it" (I have it) by the age of 12 months. Akela was not quite saying sentences at that point, but she had a much larger vocabulary and was able to name several animals, body parts, people and objects (car, ball, mepop (lollypop) ect.
We will be taking Sonya to see a pediatric dentist as soon as possible. She most likely has Dentiogenesis Imperfecta, which occurs in 50% of all people with OI and no amount of brushing, flossing ect. will prevent it. It is basically brittle teeth just like the rest of her brittle bones, and she could wear away her teeth before she is in her teens if nothing is done to treat them. Even though she does not yet have her second set of teeth, they will be affected. In all cases when it is present in the first set of teeth it will be present in the second set as well. I'm not sure how they treat the first set of teeth, I do know that her second set will all be capped. Her teeth are almost completely see through as if they were glass, with a slight brown tint here and there. If our pediatric dentist that currently is taking care of our older two girls is unfamiliar with this and unable to help her we are hoping he knows of someone who can!
Our geneticist would also like us to see Physical and Occupational Therapy. Water therapy has done wonders for people with OI! It will help Sonya strengthen her muscles which will in turn help her bones. We are also interested in a newer therapy known as vibration therapy. I don't know that much about this type of therapy yet, but basically it plays off the idea of impact. A runner is someone who experiences high impact, their feet pounding pavement frequently sending vibrations up their legs and subsequently their bones. The vibrations stimulate something ( I can't remember) in the bones, strengthening them. Vibration therapy is done with a vibrating platform that the patient stands on. I'm not sure on all the rest of this... it's something we have yet to learn about. We will also probably have a speech therapist for Sonya and possibly learn some signing, this especially rings true if there is hearing loss. We will be checking into a specialty car seat and walking aids, as well as possibly bracing.
We will be setting up all of these appointments as soon as possible, I have calls in to each one of the specialists already and I expect to hear from all of them with in one week. Looks like we are about to get even busier! Dr. Deardorff says she is looking wonderful right now and I think so too! Thank you all for your thoughts and concerns! I love all my supportive friends! Hugs to all of you and your little one's!
I'm not sure if this company is nation-wide or not but the website is 
Akela with a mouthfull of chocolate covered banana!
"Mmmmmmm!"
Haha! Their faces are too funny! Ian also got me a gift card so I could go to the jewlery store and pick out some Pandora beads for my Pandora charm bracelet. Before I know it, it's going to be full and I'll have to start another one! So far I have half of it filled! Ladies, if you haven't heard of Pandora before here's the website. 
I just wanna grab your paw.... Please!!!!
Don't hide from me kitty! I will come and find you!!!
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