Two weeks ago, I spoke with a nurse at Paige's pediatric office. She suggested I come in to see Dr. Sandvig (Paige's pediatrician). I followed orders & went in the next day. It turns out that what the nurse suggested we come in for was really not a big deal at all, but little did we know it was still an important visit with her doctor.
Dr. Sandvig is a great doctor. I have loved her & felt very comfortable with her as our pediatrician. She has suggested we see many specialists for Paige. Some of the specialist visits ended up in surgeries & others ended up with a conversation saying that everything looks good for Paige. I have appreciated her doctor being aware that we should just check on some of these things, and not just over look them and assume they are fine.
Back to the visit with Dr. Sandvig earlier this month... she has always watched Paige closely on many things, especially with the shape of her head. Paige has a head shape that is more oval than normal, but doesn't look much different than other heads to the untrained eye. She looked at it again, and we discussed the previous CT we had on it when Paige was less than 1 year old. That CT looked good according to the plastic surgeon, so we were happy at the time. Dr. Sandvig then asked about how Paige's speech was coming along. I told her is was super slow, but that we were making some progress. She then suggested we see a geneticist to see if there is any linking factor between Paige's eyes, head shape & lack of speech.
I called the genetics office & although they normally were booked out until May, they must have had a cancellation because we were able to get into the office in 2 weeks. The thought crossed my mind that it was meant to be that way, although I really didn't think that they would find anything. While we were up that way, we scheduled and appointment to get Paige's hearing checked again for the same day.
Yesterday was the day we went up to the U. The geneticist was a very nice & thorough lady. I had no idea what to expect from the genetics appointment. A nurse came in & asked a ton of questions about Paige's health, and the history of our families. Then the geneticist came in & asked more questions & examined Paige. She looked at everything from the shape of her hand & fingers to the size of her feet. She then took her team in the other room for 10 min or so to discuss their findings. She came back in and said she thinks that Paige might have 2 syndromes. It sounds like the easier one to diagnose is called
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (AKA BPE). There are 2 types of this syndrome. Type II pretty much just affects the her eyes (we already knew she had the ptosis part, so that wasn't a huge surprise), but Type I affects her eyes & is linked with female infertility (random, I know). We obviously have to do much more testing to find out which type she has. Her geneticist also thinks she might have one other syndrome (that may or may not connect her head shape, her speech delay, her balance, and a couple of other things), but from what I understand she doesn't know how to label/what to call that syndrome. She is going to take Paige's case to a board review meeting to see if anyone else can think of what it is called. Meanwhile we will get more testing on her head shape as well.
My first reaction was something like, 'something is wrong with my child?!', but the more I thought about it, the more I realized, she really is perfect. God made her this way for a reason & she is perfect to me, even if her eyes are droopier than normal.
The good news is that she passed her hearing test. I thought it was going to be opposite... I thought she would have come away from the geneticist with no problems & have hearing problems. Silly me.
Now that everything has sunk in a little bit, I realized that I have thought for many months that something just isn't right with her speech development. People would tell me that she will catch up, and she probably will/would without help, but it just still didn't feel right to me. I would often feel kind of sad about it (for lack of better word), but never knew how else to help her other than with the speech therapist. Now, I think we are on the right path to getting her the best help possible.
So, although we have more questions than answers now, I am so grateful for all of the doctors and specialists and nurses who have helped Paige & who know their stuff. I thought this year we would make lots less trips up to Primary Children's Hospital than last year, but it looks like there will be more. I am grateful for it, though. Everyone up there is there to help & I am so grateful to have a place like that.
PS- Paige was SO great at her big day of appointments. She was extremely well behaved & cute as could be.
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