Doctors don't know very much about HGPPS. HGPPS is very rare. I keep quoting the number of less than 100 documented cases in the world, but considering the fact that I alone have contact with 13 other families... I feel like that number has to be growing. 6 of the families are in the US. At any rate, it is still very rare. It would be virtually impossible for every doctor to be familiar with every rare syndrome/disorder.
A handful of researchers know about it, but doctors tend to just know the aspect that they specialize in. The orthopedic doctor treats the scoliosis, the eye doctor works with the vision, etc... but there is not one doctor who can coordinate the care. I remember asking a doctor very early on, "Whose in charge of this ship?" He very candidly answered, "You".
It would be nice if there were some place where families could compare notes. A place where we could see what others have tried, what others have needed, what others have found successful. In essence, we hold the answers for one another. Those of us with kids older than the newly diagnosed, have to pave the way and help fill in the gaps for what to expect.
I will continue to work on a good avenue for this information to be shared among families, but in the interim, her is our story. In a nutshell. In regards to school, 504's and special accommodations.
Makenna was 3 months old when we first discovered her eyes did not move right to left. Her unique personality hadn't even emerged yet and we were forced to ask questions about what limitations she might have. I remember my first and consistent question was always, "Will she be able to read?"
It's been a long and twisted (no pun intended!) road since the beginning and nothing unfolded in a smooth fashion, but that question has always been the front runner. "Will she be able to read?" It is so hard to offer insight to teachers and faculty when there isn't any documented recommendations. Our school system is amazing, but they've never offered services for someone like Makenna; and I can't even tell them what services she will need! The best advice I could give her kindergarten teacher (in her rookie year :) btw) was, "So... her eyes don't move right to left. She can't track... I'm not sure how reading will go. Good luck with that:)".
This question about reading and education weighs heavily on parents of children diagnosed with HGPPS. I asked the question to every family I could find. And every family that has found me has asked me that question. Unfortunately, there isn't any research on it. And there's no place to turn for answers, this isn't one of those things you can look up on the internet.
This year, we scheduled a Functional Vision Assessment for Makenna. It is an assessment that is designed to determine how you use the vision you have in everyday life. We enlisted the help of the School for the Blind because they had the resources necessary. Ideally, you would want a pediatric low vision specialist to administer the assessment and make recommendation for accommodations. Our local eye doctor does not have someone in this capacity, so we needed to outsource and make the best of what we had. Boston Children's Hospital has specialist who could see her and make recommendations and while we may do that down the road, this is what we have for now:)
Makenna now has a 504 plan in place. She doesn't qualify for an IEP because her education is not adversely effected by her medical condition. She is not suffering academically due to her condition. We carefully crafted her 504 so that it would explain her condition, the potential vision issues, and limit the weight of her backpack (for her spine). Basically, I wanted something that not only protected her interests in the classroom, but also something that made it easy for her teachers each year to get an overview of Makenna without requiring a sit down with me each year:) Her 504 will follow her through the school system and will be adjusted each year as necessary.
I continue to work on a questionnaire for HGPPS families to help quantify these answers and offer even more support and help along the way. If you have any suggestions on a good forum for families or a better way to share information, please pass them on to me!!!