Many of you know that William and Grace and Juliet, and most recently Billy have all been diagnosed with Hypophosphatasia. We are now adding Emily to the list of confirmed hypophosphatasia sufferers.
For the past two years, Emily has had 'crashing' episodes during her school day. Getting extra sleep and having a snack at the ready helped for a while. When the symptoms continuted, we had her on a high protein diet, which also helped. But at the end of the school year, she was crashing every other day and no amount of sleep or protein seemed to stem off the crash.
When we went into the pediatrician, I realized that her yearly appointment had been skipped, since we were attempting to realign her schedule closer to her birthday. She wasn't due for any shots, so it seemed like a good year to do it. However, missing this appointment led to an oversight of her annual metabolic panel testing.
So, the pediatrician ordered the bloodwork, and this year, she had low ALP. Almost half of what it should have been.
Aside from the crashing, she has no symptoms. We made her first appointment with the Endocrinologist in July. Her first response was to have Emily complete a genetic spit test, she also ordered a kit for Alice.
I called when we returned from our camping trip, but they didn't have the records yet. I received a call back that afternoon, from the Doctor*. Emily has confirmed hypophosphatasia.
While we were chatting, I pulled out the folder with William and Billy's results. Aside from the big "positive" on both papers, most of it is so technical it is just jargon to me. On William's paper, he has 2 lines of confirmed hpp strains. Billy only has one. Emily has the other. If my understanding of genetics is correct, this means that William and Emily had to get the other strain from yours truly.
We still don't have Alice's results, but I would wager that the likelihood is high that she has one or the other. We don't have access to the results of the twins' genetic study in California, and haven't had it retested, but my guess is that they also have the misfortune of inheriting both.
Once we are able to get Emily taken care of, and Alice if need be, I've asked the doctor for a referral to a family genetics doctor. This will hopefully help us to better understand what all of the numbers mean for our health and plan for the future.
As of right now the endocrinologist is reaching out to some of the experts in hypophosphatasia to see what they recommend for this particular manifestation of hpp.
This post has been months in the making, and it still hurt to put it in words.
later days
*Calls from the doctor are my least favorite. Seriously. I understand that the reason they call is so that they can field all the follow up questions, but they only call with bad news. = (
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