The last week has been filled with so much information, discovery and emotion. And I don't know really how this will all come across or come together, but I'll give it a shot.
Makenna had a visit to Shriner's last Wednesday. Her appointment wasn't supposed to be until May. But I was overly worried and concerned that her curve was somehow coming back. One day when I took her out of her brace, thought for sure I noticed a small curve in her rib area. I couldn't see it from the back - her spine looked perfectly straight, just not quite 'centered', but from the front, I felt like her right ribs were more rounded. I realized that I was over-reacting, but I immediately got on the phone and called the pediatrician. "I need an outside opinion", I said through the tears. "Is there anyone available who can just look at her and tell me if I'm crazy?". The nurse was very kind, and she was talking to me as if I may jump off the roof if she didn't answer correctly... "Hold on. Let me go talk with the doctor. I'm going to be right back, Ok? It'll just take a minute. I'll be right back." And as she put me on hold, I could just imagine the conversation on the other end - "Crazy mom on line one!". To make a long story short, there wasn't anyone available that day. Dave took her the following day and the report back was that the doctor did see 'something', but didn't think it was anything more than maybe 5 degrees. And she didn't think it warranted an x-ray. Well, this didn't really make me feel a whole lot better. I already had a call in to the care coordinator at Shriner's. When she called me at the beginning of the following week, I told her everything and she commented that maybe Makenna was growing and the brace needed some padding or adjustments. If I was really concerned we should come up early and see what was going on. So, early we went.
The good news is that Makenna is beautifully straight in her brace (see x-ray below). And her doc thinks she looks great out of brace. He did comment that he didn't have a 'mother's eye'... Which I'm sure for me will be overly critical and hyper vigilant until she is fully grown. I'm not sure there's much I can do about that :)
So, there was that wonderful weight lifted off my shoulders and the realization that we really are a success story and serve as a great example of acting swiftly when the curve presents itself. Makenna's curve was only 20 degrees when we first noticed it. That is borderline for any kind of intervention and treatment. The underlying genetic condition of Horizontal Gaze Palsy with Progressive Scoliosis, the fact that we had heard about casting and Shriner's, combined with her high RVAD reading on the initial x-ray - all lead to the possibility of early treatment. Conventional treatment didn't put us on this path.
Better news even was that because of Makenna's site, two families have contacted me about HGPPS. Somehow, this little website is getting around the world. And what is a scary, scary initial diagnosis doesn't have to be lonely, at least. One family has an older child, 16 years old, so I have asked many, many questions about what to expect in regards to vision and spine. The other family has an 18 month old, so we are the leader there. Makenna used to be the baby in this little group of HGPPS families - to date I have talked with 5 other families. 4 in the United States and one in England. Two 16 year olds, and 8 year old, a 5 year old, a 4 year old (Makenna) and then the 18 month old. What stands out the most is exactly what the researchers told me when I first contacted them... she's going to be fine. She will lead a full and productive life, the most significant problem is the scoliosis. Focus your attention there. And they couldn't give me any really good answers about prognosis of the curve. I wanted definative answers: would her curve be rigid? would it continually progress? how quickly? would she require surgery? The answer I repeatedly got from each expert I asked was : we just don't know. The curve is very individual. What we do know is that it does progress. And in talking with these families, I'm coming up with the same results. Two have had surgery; four (including Makenna) have not. And the two that had surgery were younger than Makenna when they had it...
I was also forced to face my disillusionment with the medical community.
My gut reaction when a mother was told that her 6 month old had positional scoliosis that would self-resolve was one of skeptism. And I hate that. Why shouldn't she trust them? What's to say her baby doesn't have a self-resolving case? She could be a part of the majority... why was I so quick to question? Where did I loose my faith? I have so much faith in Makenna's doctors and the researchers who work with HGPPS. I trust them all implicitly and feel blessed to have them on Makenna's side. So where did all this come from? And then I remembered all the stories I've heard. Parents who were told their child's case would self resolve; only to come back in the standard 4-6 months to find the curve had progressed. Not a little, but a lot. 4 months is what was recommended for Makenna as well; I just didn't listen :) But what about all those parents who do listen; who place their faith in the doctors they have chosen for their children. And I understand the odds. I undertand that Makenna is in the minority - most cases do resolve, but when you are in the 20% that don't... you don't want your child to be skipped over. It's hard, if not impossible, to make up the time and treatment you lose by waiting and seeing... And I don't know what the answer is. I wish I did. I wish every doctor in the country knew about casting, could see it's wonderful benefits and results, and that it was standard first course of action to refer pediatric patients with a curve to a pediatric spine specialist - instead of a mainstream pediatric orthopedic doctor. I wish there were more awareness, more information, more education.
My hope is that by sharing Makenna's story, and the success she has had by getting early treatment, that slowly I can help spread the word and begin to make a difference:)