Sonya's Big Update!

Hi Everybody!

Yep, that's right! This is a big update, so pour yourself a glass of wine and get comfy! We went to AI duPont in Wilmington Delaware yesterday to see Dr. Bober, her geneticist. I had gathered over the past 2 months all of her x-rays from birth on up to be reviewed by Dr. Bober. After a close look at all of them he concluded that 2 (she has 4 possibly 5) of her spinal compression fractures occurred after her x-rays at Doylestown Hospital as they were not seen on those films, but before she arrived at the NICU at Children's Hospital of Philadelphia only 3 days later as they were very apparent on those films! I wouldn't doubt that these breaks in her spine were a direct result of some very rough manhandling that the x-ray staff at Doylestown provided. Unfortunately they handled her without care or consideration of the possibility of OI. I was not present during those x-rays because I was being sewn up at the time, but had I been there, you could bet your sweet butt that I would have raised hell! Anyways, what's done is done and I have no solid proof... as with OI, fractures can happen without any apparent reason and as far as I know they may have occurred while I was picking her up or while she was being transported to Children's Hospital Of Philadelphia.

Ok, now that I have let off some hot steam... literally... it really came out of my ears.... the GOOD NEWS is that Sonya is now qualified for treatment!!!!!! Yay!!!! As I have discussed in previous posts, there is treatment, not a cure, for OI. Pamidronate is a bisphosphonate that is in the same class of drugs used to treat Osteoporosis and Metabolic Bone Cancer and recently is being used to treat patients suffering with OI. People living with OI experience chronic bone pain and multiple fractures throughout their whole lives. To read more about Pamidronate and how it is going to help Sonya click on http://swartley.blogspot.com/2009/02/pamidronate-and-other-news_07.html ..... (I still have to figure out the better way of doing the link... Someone please clue me in!)

So, because Sonya has 2 compression fractures that occurred post natal (after birth) and she has fractured both her radius and ulna (forearm) and her femur (thigh bone), she has met the protocol for immediate treatment. Just to let you all know, one post natal spinal compression fracture would have been enough. Sonya will have her first infusion cycle July 13th, 14th and 15th. The infusions are through an IV over the course of 4 hours per day, 3 consecutive days every 8 weeks. It is an outpatient procedure, so we will go home each day. The typical reaction is flu like symptoms with a high fever, grumpiness and sleepiness. She will be on this treatment plan until she reaches puberty, although the week spans between each cycle may get longer as we go along. The major benefits of this treatment are less bone pain and decreased amounts of fractures. Considering she has already broken a total of 11 times now from in utero through her 17 months breathing our sweet air, I'd like to see what I can do by getting her on PAM to help cut down on her future traumas. I am however very nervous about any long term effects that may be linked with the use of PAM on OI kids. Unfortunately, the drug has only been used on OI kids for just over 10 years now and those side effects are still unknown and the "miracle drug" is still in it's trial stages. But, we can not wait any longer. Without PAM my baby will keep experiencing extreme bone pain and excruciating completely through bone breaks.... she may never have the chance to walk... to climb... to run... skip... jump... So it is our decision to move forward with the treatment.

The rest of our visit was very productive too! We discussed rodding surgery as an almost definite possibility very soon. The rods that would be placed are not growing rods, we are not trying to alter her height. They are supportive rods. The protocol for rodding a bone in OI kids is 30 degrees or more of bowing. Sonya's left femur before she fractured it again (once in utero in the same spot) was at a 90 degree angle. Yep, that's the corner of a square folks! It is obviously in need of some rodding help! Her other femur is at 60 degrees and her left tibia is at 40 degrees. Dr. Bober said they would likely rod them all, but that they would have to do some extensive bone studies first to determine the thickness of her bones and if they would be of a large enough diameter to fit a rod in place. Some OI bones are too thin to be rodded, even with the smallest of rods. Please pray that Sonya has thick enough bones! The rods will not keep her from fracturing, but when she does break a bone the rod will help hold her bones in place, lessening the chance of a displaced fracture, through the skin... gross stuff... OK! I know too much information! The rods will also help the healing process go smoother and prevent further curvature and bowing.

We also discussed Sonya's C1 C2 instability issues. Apparently Dr. Bober does not see any issue... Sonya does not have C1 C2 neck instability, nor does she have any fractures in those vertebrae that could be confused with instability. So now I am very confused. How can 2 different doctors at one hospital say they don't see a problem and another doctor at another hospital sees it and wants to keep an eye on it for now with the prospects of a possible spinal fusion down the road? I guess I may have to get a third opinion? I don't know.... I'm still trying to sort that out in my head right now.

Ok, in wrapping this up I may rant a bit.... I apologize right now, it's late and this really gets my goat. Why are not all sidewalks handicapped accessible by now??? Seriously folks! The ADA, Americans with Disabilities Act (yes, Sonya is considered disabled) was enacted in 1990 and our neighborhood sidewalks still do not have any ramps at all, but they are full of cracked and caved in sections(the sidewalks are definitely original from 1975)! So, since Sonya is in a spica cast right now and can not be wheeled around in her stroller due to the fact that she can not sit, we have been giving her wagon rides instead. Unfortunately, we don't get very far. With a stroller you can "pop-a-wheelie" every now and then to get up and down the curbs of the sidewalk. With a wagon.... no can do, unless of course you want your fragile OI child in a spica cast to fall out the back end of the wagon and fracture something else. Uggghhhh!!!! I will now not only be hassling our insurance company on a weekly basis, but I'm going to start taking on the government too! Ok, enough ranting... I've made you suffer through a lengthy post... more on the ADA another time! Hahahaha!!!

I wish I could get the video of Sonya uploaded. For some reason Blogger is not letting it happen. I'm also fresh out of photos right now, but I promise there will be lot's of fun photos from our Outer Banks North Carolina beach vacation when we get back in a week! Everyone have a great week and thank you all for your continued support!!!