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 day.....as 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 drive...so 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 appointment...it 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"...so 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 her....at 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 about....it 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.

Natalie

18 months old - check out my pigtails!!

My gappy grin!!!

Look at where my knees are!!!

March is here!!

It's been a busy few weeks around here (as always...) Tom is working lots of shifts in the ER...I hate not having him at home with us, but it is nice to feel a bit more financially stable. The hours he does now still can't compare to residency back in Tampa! I have my days where I miss working and having that professional part of my life...but I keep reminding myself am where I need to be right now, home with my children!!

I am finally feeling better....for about two weeks I felt horrible!!! Headaches, body aches, fever, cough and congestion. I am thinking it was the flu (I did get my flu shot) because none of my typical drugs I take for when I have a cold to get me through my day were working. I am just glad the kids and Tom didn't get it (or at least it was milder...Sofia did end up all congested and snotty last week and Michael had a little cough). But now we all all healthy!!!
The big event for Michael in the past couple of weeks was he had his first trip to the dentist...partly because it was just time since he is now 3 1/2, but also because he had a little run in with a shopping cart at the grocery store....he ran full speed towards me and slammed his mouth into the cart. Lots of crying, but no bleeding or swelling. He complained that his tooth hurt at first, and then no complaints once the tears dried. Well, his top front tooth started to change colors. It looks horrible in my eyes!! Michael did great at the dentist...he let her look in his mouth, they took an x-ray, and then he got ice cream and a balloon!!! The tooth looks okay on the x-ray, and the dentist feels it will in the short-term get worse looking, and then slowly fade over a few months. He goes back in May for his first cleaning. Tom and I are both about to get around to seeing a dentist also. I have been putting off the fact that I need my wisdom teeth pulled...I just need to do it!!

Busy days for Sofia as well. We increased her physical therapy from once a week to twice a week with the additional day at an outpatient clinic. So far she has cried through the two sessions she has had there, but I think she just needs to get used to this new environment and therapist. Their evaluation put her gross motor skills at about the level of a 9 month old. We are also increasing her speech therapy from once every two weeks to every week with the in home therapists. I am also thinking about adding in more outpatient clinic speech and occupational therapy after I see if insurance covers the physical therapy. I am hoping that I can get Sofia enrolled in an early communication research project through Kansas University. Sofia is on the list to be possibly screened this next month...they seem to think she fits what they are looking for (communication delays in a globally delayed child with no significant medical problems - that is Sofia!!). The study would randomize Sofia into receiving speech therapy in our home either once a week or FIVE times a week for 9 months....and that is on top of what she already gets!! They want to see in frequency of therapy makes a difference in language development. So cross your fingers that we get a call....they said that we should hear from them in a couple of weeks!! So we have a lot of people in our home during the week...luckily Michael takes it all in stride that all these people come to see Sofia....he just stays out of the way playing the computer and pops out every once in a while to see what's going on!!

We had a couple of appointments this past week. We saw the neurologist...an uneventful appointment. He reviewed her hearing test from last September...minimal to mild loss in low tones on the left side, but not concerning. Her neuro exam was unchanged (which is good). He feels reassured b/c she is so alert and does not want to repeat any testing now (no EEG or MRI), and may think about a spinal MRI at her next 6 month f/u. But a lot hinges on the BIG genetics appt on March 12th and the neurologist will do whatever they feel needs to be done. Sofia also had her 18 month well check with her pediatrician. Fairly uneventful...I just hate that every time they ask me all the development questions for her age and every answer is "no". She remains long and skinny...33.5 inches long (92nd percentile) and 19 lbs 12 oz (dropped to 3rd percentile - side note: she was almost 21 lbs two days prior at the neurologist's office, but her growth gets charted off the ped's scale). The pediatrician was slighly concerned b/c he won't necessarily see her again until she is 2, but he wasn't incredibly concerned. I figure Sofia has been on and off sick, during which time her appetite drops off, and she is so active now that she is burning more calories. We try to get as many calories as we can into her each day, but me just shoveling food into her goes against her feeding therapy and trying to get her interested in feeding herself. We are somewhat at a stand still with her feeding...she does like to grab the spoon and pull it to her mouth when I feed her, and she likes to play with her food....but no putting food in her hand to her mouth. Her feeding therapist (OT) thinks it will come as her cognitive skills improve and she decides that feeding herself is interesting.

Sofia has been doing great these past couple of weeks...she spends so much time on her tummy playing now and I can see that she is trying to figure out how she can just move forward and not have to roll all sorts of different ways to get to where she wants to go. She will eye what she wants while on her tummy, roll, look for it again, and adjust herself to roll towards it. She just doesn't have a lot of stability in her shoulders b/c of the hypermobility, so it is hard to support herself up on all fours. She is all about exploring...today she made her way under the computer desk and was playing with the cords. The last few play groups we have gone to she is all about rolling around to explore her surroundings. She is all about clapping her hands now too!!! She continues to slowly get stronger at Sofia speed!!! And today Sofia was so excited that I picked her up she wrapped her little arms around my neck and shoulder and squeezed!! It was like a real hug!! She has been really great at snuggling ever since she gained better trunk control, but typically her hands always go to touching my mouth (she has this thing with touching mouths and putting her fingers in your mouth...I am trying to get her to learn "no" with this habit). So I loved the hug...and she seemed pretty proud of herself too!!

No new pictures this week of Sofia...I was all about videos these past couple of weeks, and none of them are small enough files for the blogger upload...next time :) But I do have a couple from the night Michael decided he wanted to eat all our "clams" (Tom had made mussels...I can't believe Michael ate mussels...just look at his plate!!!


Take care everyone...I will update again after our March 12th genetics appointment!!!

Natalie