Caitlin's MRI Followup (Finally, a post!)

Yesterday we made the trek back into LA to go visit everybody's favorite Neurologist, Dr. Moise Danielpour with Cedars Sinai. It was kind of a long drive since we forgot to put the DVD player back in the car for Caitlin, but thanks to grandma in the back seat (who tagged along to help) we managed to survive the trip. West LA traffic sucked as always, of course, so we were barely pulling into the parking structure at 2:30, which was when our appointment was supposed to start. This timing turned out to be fortuitous, though, as another family with a two year old achon boy showed up just a few minutes after we did - a family who knew nothing about the LPA and had never seen another little person before! They were from the LA area as well, so Cherylle immediately stepped in and acted in her role as parent coordinator for the LA Chapter and introduced us and Caitlin. They were very excited to see Caitlin running around the waiting room, and seemed relieved to see how well she was doing. Cherylle gave them our info - hopefully they'll be back in touch with us soon!

Anyway, we got in fairly quickly to see Dr. Danielpour. His nurse did a great job "measuring" mommy and daddy's heads first so she could get Caitlin to put up with her head being measured - and there's no change, which is good. She's growing, but her head isn't at the moment. On the other hand, Dr. Danielpour was a bit concerned still with the fact that her fontanelle was still wide open, the fact that her forehead bossing is as pronounced as it is, and that she has prominent veins in her forehead. He told us that her MRI scans showed basically exactly what he was expecting given her characteristics - at full flexion her spinal fluid was completely blocked from flowing, and at full extension there were no problems at all. This also made sense when you combine it with the results of her previous sleep study, which showed more apnea episodes when she was sleeping on her back, which pushed her chin forward onto her chest, than on her stomach, which allowed her to turn her head to one side and prop it up.

Basically, the upshot is that we need to do another sleep study on Caitlin to verify whether or not she is having problems with central sleep apnea, then come back and talk to Dr. Danielpour again about the possibility of decompression surgery. If she doesn't have any central apnea problems, then we probably won't need to worry about it - but if she does, then decompression will probably be necessary. Of course, with all our insurance changes over the summer (me being off for the summer, and Cherylle getting a new job) getting the sleep study scheduled might be a big challenge - but we'll do what we can to get something on the books! Our schedule is complicated further by the NY conference - we leave Saturday and don't come back until the 15th! As if there wasn't enough going on, right?

On that topic - we're excited to see many of you in NY - and for those who can't make it, we'll see you on Facebook!

Cedars Sinai!

So Caitlin had her first appointment with Cedars Sinai! It took a while to get my insurance straightened out, and then to get the referral to Cedars since the local pediatrician I chose doesn't usually refer to Cedars for genetics cases. Fortunately Dr. Arora took it on herself to hand-hold the referral through their referral company and made sure we got authorized to see Dr. Rimoin who is the top geneticist there, and the biggest dwarfism specialist on the west coast.

Cedars did a really great job of getting us in quickly. I'd mentioned when I faxed the registration packet over last week that Dr. Krakow (with both Cedars and UCLA) and Dr. Danielpour (the Neuro with Cedars) had both mentioned concerns over the size of Caitlin's fontanelle at the D12 regional and had recommended getting an MRI done as soon as possible. Of course, if you've been reading this blog (or my Facebook updates) very often, you know that getting an MRI through Kaiser and Dr. Tiller has been almost impossible. Of course, as soon as word got to Dr. Tiller that two of his important colleagues thought Caitlin needed an MRI (and should have had one earlier, no less!) he called Cherylle directly and offered to do whatever was necessary to get one going for Caitlin. Uh huh. Too little, too late, buddy. The letter to Kaiser and to the LPA's medical advisory board is already started - I'll post it here when it's done. As parent coordinators, Cherylle and I feel that we have a responsibility to make sure other parents know who is out for your child's interest and who is not!

Anyway, on Thursday I started getting calls from Cedars - first from Tami, the clinic coordinator with the Skeletal Dysplasia Clinic, to get us in to see Dr. Rimoin, and then from Cathy, the genetic counselor, to get a brief medical history for Caitlin and to let me know that SHE'D ALREADY REQUESTED AUTHORIZATION FROM OUR INSURANCE FOR THE MRI. Apparently the word of Drs. Krakow and Danielpour was enough - imagine that?

So today we left home early, dropping Evan off in the cafeteria at Newhall Elementary to eat breakfast there, and headed down to West LA. At the last minute the appointment got moved to the Pediatrics division in a different building, but we found it alright. The fun part was that the intake nurse obviously had little experience with dwarfism, which was an odd way for an appointment with the top dwarfism genetics expert to start - but she did just fine. We had to educate her on a few things, but you all know that that's pretty typical for us :-) After she did the initial vital stats, a Dr. Mencias came in to see us. She was an intern with the genetics department, and was also still learning, but obviously knew a lot more already. She was really nice, and did a great job of trying to make Caitlin okay with the fact that she was being examined - which thanks to all the doctor appointments she's been through lately she's having a hard time with.

Dr. Mencias asked a lot of the typical questions, complete with a quick family genetic history. It always amuses me to have geneticists ask if there is any history of dwarfism in the family, since achondroplasia is autosomal dominant and there is no recessive gene, but I guess it makes sense - they're always looking for the exception to the rule. That's how you learn, right? She did a fantastic job with Caitlin, though, and Caitlin was actually relatively calm with her until she needed specific measurements. Cherylle and I had to both hold her still for the head circumference, and Cherylle ended up laying down with her on the exam table to help keep her calm. It didn't really keep her calm, but it kept her still enough to get the measurements.

Dr. Krakow works full time at UCLA now, although she consults with Cedars, but because she'd seen Caitlin at the regional she decided to drive over to see us and join in with Dr. Rimoin on the consult. She asked us if turning Caitlin back around (rear facing) in the car had helped with her nausea problems on drives, which it had, thanks to her advice. She told Dr. Rimoin about what she and Dr. Danielpour had seen at the regional with Caitlin's fontanelle, and he concurred. He was a bit mystified as to why Dr. Tiller had been so reluctant to approve an MRI - we explained that Dr. Tiller had thought the anesthesia was risky, but Dr. Rimoin seemed to think that death from something that could have been detected by an MRI was riskier. Strange - that's what we thought, too - and what we had told Dr. Tiller. Hmmm - that's another blog post.

Anyway, Drs. Mencias, Krakow, and Rimoin all thought Caitlin was in great shape overall, except for the problem with her fontanelle. She's not showing any problematic symptoms - no clonus, no muscle tone problems, no bulging soft spot or forehead veins - but they all still felt it was something that needed to be followed up on asap. They also felt that her increased snoring combined with her minor apnea problems on her last sleep study warranted ordering another one. They also wanted us to have her seen by their ENT, and after the results of all of the above were in, Caitlin will get a followup appointment with Dr. Danielpour to see what, if anything, needs to be done.

Man, just like when we saw Dr. Krakow at the regional - it was so nice to see doctors who say what we think before we say it! It's almost like we've all been reading the same thing - like the Health Supervision for Children with Achondroplasia! You'd think the American Academy of Pediatrics knew what they were talking about, or something!

Well, we'll see how it continues to go - there are quite a few authorizations to get through. I'll keep you updated!

Here are some pics from our recent adventures -

Here's Caitin waiting for the doctors - already worn out from fighting the nurse.

Here she is coloring at lunch across the street after the appointment was over.

Here's Evan getting ready to ride the motorcycle with daddy for the first time this weekend! Woot!

Here's Caitlin looking ridiculously cute in pigtails on her way into daycare on Thursday :-)

Here are the kids with my parents on Sunday - we met up with them halfway between both homes, which fortunately happens to be in Santa Barbara. Beautiful!

Finally, here's a shot of Caitlin on her first night in a big girl bed - it's Tink, of course! The most beautiful fairy of all...

See y'all next time!

Our first event as Parent Coordinators!

This past weekend was the first event we organized as parent coordinators for the LA Chapter of the LPA - a parent BBQ potluck at the Dino residence in Arcadia. We had around 30 people in attendance, including the kids! Everybody had a really great time. The weather was absolutely perfect - nice and sunny, plenty warm, but with a cool breeze and plenty of shade to hang out in. There were more than enough hot dogs and hamburgers to go around, with homemade pasta salad and mac 'n cheese for the kids. Chips, cookies and lots of drinks rounded out the menu. Oh, and I can't forget Joe's fantastic homemade clam chowder!

We had families from all over the Los Angeles area, and Alex and Jeff Bray, with Sam and little Anais, drove all the way from Las Vegas to join us! The kids had a blast playing on the slide, with the balls, and in a large pirate ship playhouse in the Dinos' huge backyard, although at some point the boys all ended up indoors reassembling cars and watching Spongebob :-) Near the end of the day, the chapter president was able to join us after representing LPs from around the world at the Santa Monica Public Library's Living Library experiment!

Many thanks to everyone who showed up, but especially to Joe and Sandra Dino for hosting, and to Joe's parents for opening their backyard to us! The location was so perfect that we're working on a backyard campout at their home in June!