Tuesday, January 26, 2010

Geneticts update

Monday my mom and I took all three kids to Lily’s geneticist appointment at the hospital in downtown Phoenix, the appointment was at 8:45am. We amazingly made it there within minutes of the appointment, yet didn’t see the Dr. for over an hour and because she is so thorough she sat with us for well over 30 minutes we ended up being there over 2 hours. Thank God my mom came to help! I would have gone crazy!
We really heart the geneticist. That is modern terms for love. We saw her years ago when Lily was an itty bitty and after all the tests they found nothing, I gave up on that avenue for awhile. It’s funny I never called her for the CDKL5 test, but we weren’t following up with her at that time and I thought I could just get our neuro to do it. Even when he shut me down I still didn’t go to her, but our pediatrician said he’d do it and since I was convinced that was her diagnosis I knew I just needed someone to sign off on the paperwork with an MD at the end of their name, I never thought about her.
Then the test came back negative and I quit for awhile searching. That was back in 2006.
It was 2008, before we got the call about the positive re-test, I had gotten an email from a CDKL5 mom who said she just knew Lily had CDKL5. I then started looking back into it and decided to call the geneticist and see if we can test Lily again for CDKL5. I looked at the data on CDKL5 and if Lily didn’t fit every single symptom then I don’t know who did. So I call, get Lily scheduled for months out and a month later we get a call from the pediatrician who says Lily was re-tested and she tested positive. We hadn’t even been to see geneticist yet! Man, this is a long story. I keep our appointment and we saw her last Dec (08) and we have been following up every six months since. She has diagnosed one other child with it so far here in the Phoenix area. She is incredibly smart (obviously) but also has amazing bedside manner, she is a mom herself and is very caring. She went over Lily’s whole body, she asked me questions, wants to do an upper GI next appointment to make sure Lily doesn’t have reflux. She asked for a copy of Lily’s EKG and wanted to make sure she has no arrhythmias. I guess Rett girls can have that problem? She asked me about her breathing, wants to follow closely with her scoliosis. She understood my needing a second opinion on the bracing and said that she is still young, but we will watch her closely. She asked me what she could do for me and made sure I am taking care of myself. I have never had a Dr. ask me if I am taking care of myself. It is so obvious she is a mom.
Anyway although the appointment was long and probably stressful for my mom who was trying to entertain an 11 month old and keep a very loud 4 year old quiet, it was a great appointment.
Lily has a runny nose yet again and I don’t know if it is a cold or she is having a reoccurring sinus infection, I think I better take her into the Dr. to see if she needs antibiotics. Oliver has a follow up on his ears tomorrow so I will just bring her in for a two for one again.
Andi Jane is doing great, full of her usual spirit and happy. Oliver is almost one and walking all over. We are having a barnyard party for him with a petting zoo here next Saturday. Should be fun, except that I am not happy he is becoming a toddler. How did he grow so fast? My mom said yesterday, he is going to have a temper, and I said going? He already does. Here comes the fun times!

1 comment:

Caitlyn said...

Sounds like a great appointment! It is good the doctor knew to ask about the EKG. Girls with Rett Syndrome are at an increased risk for developing Prolonged Q-T syndrome, and it is recommended that they have repeat EKG's done atleast every other year.

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