Friday, March 13, 2009

Genetics Appointment & Sofia's super week!!

We had our long awaited appointment with the genetics clinic at Children's Mercy Hospital yesterday. Overall, yesterday was just a long I was just about ready to take Michael to preschool we get a call from the clinic asking if we could fax the records we have from her work-up done in Florida, and then an "oh, it has you in the computer as going to the South clinic, but that is wrong, you need to come downtown".... all of a sudden we (I was so thankful Tom was with me for this day) need to readjust our schedule for an extra 30 minute it was off to preschool for Michael, then to Sofia's PT appt at the south clinic, go get Michael early from preschool, then drive downtown, exam room for 2 hours, one hour to get labs drwan, and then finally off to get lunch/dinner, home by 4:30, Tom finishes packing and he leaves for the airport at 5:30 for a weekend allergy conference....I was just exhausted, and you can just imagine how two small children get with long doctor's visits over lunch and naptime!!!
But back to the actual basicly consisted of what we have gone through before: Sofia's history, some of Michael's and our medical/developmental history, family history. They had already looked over all the tests that had been done already before we got there, the doctor did an exam and took some measurements (hands, feet, ears, etc.)....she didn't comment so much on any "dysmorphic" features and we had Michael with us so they could see the similarities. Sofia doesn't have any medical problems (which I am so thankful for), so there are no medical problems to pair up with the development delay, so that rules out so many "syndromes". The blood tests she already had in Florida also ruled out so much of the obvious and not so obvious things (metabolic disorders, chromosome deletions or multipications, and several syndromes). And since she is a girl it automatically rules out a lot of x-linked disorders that are only seen in boys. The doctor basicly didn't see anything that really stood out to say "I think she has this". But she did decide that we should we should go ahead a check for a mutation in the MECP2 gene....she doesn't feel Sofia has the syndrome associated with it (Rhett syndrome), but that was one that was not looked at in the initial work up. I mentioned mitochrondrial disease, and she didn't feel Sofia fit into that picture since she doesn't have multiple medical problems like many kids with mito have, but I have seen many stories online about how no one thought it could be mito, and it was!! But this doctor was clear to say that it was a colleage of hers that was more familiar with mitochondrial disease. So that maybe worth investigating in the future. So that was the appointment...then we ended with a trip to the lab to get Sofia's blood drawn, Sofia complaining because I did not bring enough milk (oops....but I swear in her grunts and crying for more she would look at her bottle and sign "more" that was exciting since we have been working on that sign for a couple of weeks), Tom needed coffee, and Michael wanted to go see the train and the star displays at the children's hospital (his reward for being so good...good for 2 hours in an exam room!!) But another appointment with no diagnosis...which is good to know no one feels she has any scary syndromes, but frustrating when you are looking for answers and want some idea of what the future has in store for your child. I have learned to take it one day, one week at a time and try to be positive about progress, even as slow as it is (Sofia speed!!)
It has been a great week for Sofia :) I think we are finally out of our stretch of cold and flu season, so she is feeling good and it shows. Or maybe it is my experimenting with pigtails in her hair and she just knows she looks cute!!! She is practicing her core strength and balancing skills so much more now by sitting and really moving her legs around, pulling her knees up to chest while she plays with her feet, sitting with legs straight on in front of times she is really pushing up high onto her arms when she is on her tummy, today did sort of a transition into lying from sitting on her own (she intentionally wanted to go forward to reach her toy, she had her hand down, but then followed through with a fall onto her face....but better than her usual falling backwards to get down...her physical therapist was here for that and she loved it!). And you can so tell that she really wants to just crawl, she just can't get herself up onto all fours yet...she does do sort of a side to side rock that gets her forward on her tummy, but rolling is still her primary way she likes to get around. But it has been just this past week that all these new little skills have appeared...and you know its a great thing when the therapists can see it!! Sofia is still not to happy with her new physical therapy, but she was better this week....I can tell she is just still uncomfortable with the environment of the PT gym and doesn't know if she can quite trust this new therapist. I must look pretty funny with all my attempts to try to make Sofia smile and laugh while the therapist works with her so she doesn't cry. On the speech and communication front, we now have a special ed teacher that comes to the house every other week. What she does is similar to the speech therapist...lots of playing, so Sofia loves it!! Sofia added a new sound of clicking her tongue just two days ago...little things like that show us her muscle tone is improving in her oral area and that she is trying to mimick me. And we have been working on signs for "more" and "all done"....I randomly see her making the sign for "more", but like I said above, I think she may be figuring out how to use it! I also just got a call to set Sofia up for a evaluation to get Sofia into an Early Communication study through Kansas University....everyone seems to think she is what they are looking for. My calendar is filling up fast!!
Michael is doing great...we got to visit his "summer school" today....basicly a 7 week preschool program. Preschool ends with the school year, and he likes it so much I was hoping to find something for the summer and his current school doesn't offer anything. He liked the visit and he wanted to take his coat off and stay and play. His poor front tooth looks worse just like the dentist said it would....his cute smile with a dark tooth is just so sad :( Lately he wants every toy....and when he is focused on wanting a certain toy that is all he talks is enough to drive me crazy at times!!! But his sweetness makes up for it!!!
I am home alone with the kids again this weekend. Tom worked 12 hour shifts in the ER on both last Sat and Sun, and this weekend he is gone to Washington, D.C. for an allergy conference. I am hoping he will have some fun while he is there...he has been working so much that he deserves it!! I am going to get to have my girls weekend away to NYC at the end of May...I can't wait!!! But I am sure I will be a bit nervous about leaving Sofia...she is such a mommy's girl.


18 months old - check out my pigtails!!

My gappy grin!!!

Look at where my knees are!!!

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