Wednesday, September 30, 2009

Genetisist Visit

This morning we met with Dr Omar at Batson Specialty Clinic. He and his staff were sooo thorough! They asked a lot of history questions and examined her looking for anything that might stand out or remind them of another patient. The genetisist will determine whether or not she has a "syndrome" or genetic disorder. GOOD NEWS--He did not see any signs of any "syndrome" at this time!! But he feels as though she is still a complicated case of hypothyroidism. Both he and our endo believe that she was born this way even though she passed her newborn screening TSH Level. Both feel that the test was either performed too early for it to show up or the during the testing process there was an error. They feel with my autoimmune hypo-T that was not regulated during my pregnancy actually might have a lot to do with the malformation of her thyroid. So now we are pretty certain she went the first 6 months of her life with a critically high TSH level.

We are going to continue with our current plan, MRI next Friday (Oct 9), follow up with endo (Oct21), but we have added a few new things. She will be evaluated for First Steps on Tuesday to see what therapy services she will qualify for, and we are also going to see a Neurologist to determine what if any damage was done to her brain during the period when she had excess of TSH in her system. She will hopefully be able to assist with knowing more long term effects.

And for those who have been following her saga, we finally have a diagnosis for her chronic ear infections! She had streptoccocus and h influenza strand A harboring in her ear---YUCK i know! The bad part is that there are no FDA approved meds approved for a child her age. So we are now seeing the ENT for thorough cleanings (It is nasty!!!) and some antibiotics to hope the bacteria doesnt spread.

I know that this was kind of a boring post but I have had so many phone calls and emails letting us know that they are praying for Cohen and us and it means sooo much to me. This was the most efficient way to relay what is going on so far. Again, it really means so much to me all the kind words and prayers that have been sent our way. I will keep everyone posted as more things unfold!

I havent taken all my recent pics off my camera but i felt like if you made it through this post, you at least deserved a picture!

Sunday, September 20, 2009

She's on the move!

I have talked about her new skills of mobility but i figured I would give yall a sneak peek! And I need to give a quick update/praise--- the genetisist appt has been moved to SEPT 30th!! That is just next week! We went and had some tests run last week that the endo called and told us to go and get run, not sure if we will get the results at the genetisist appt or if they will call and give me the results. We are not really sure what the tests were, the lab sheet were for a lot of stuff I had never heard of, so we will just wait and see. We also started the process for "First Steps", it is Mississippi's Early Intervention services. The dr has recommended she start speech therapy again but this time for actual verbal skills. So hopefully this week she will get evaluated. Until next time....

Tuesday, September 15, 2009

Monday, September 14, 2009

To post, or not to post.....

See this cute little being right there? It is so hard for me to imagine that she isn't the most perfect creation ever (besides her brother :)). I have been avoiding my blog lately because I have only had her on my mind and I wasn't sure if I was ready to put it out there yet. I debated keeping this to ourselves, because we feel as though this is our never ending saga of illnesses, but I knew there were too many people out there who have traveled this winding road with us and our children and the more help and prayers we could get, the better.

To make this as understandable as possible I will leave out a lot of medical terminology and details just so you can get the big picture. I have posted multiple times about Cohen's thyroid disorder and small size ever since she was diagnosed. We went for a regular check up with her endocrinologist last week to check her thyroid levels --which were great and have been regulated since MAY!-- and developmental milestones. She has gradually been gaining weight however she has not grown in length at all in 4 months (she is 25 in long). I always say she is small due to her hypo-T, however I was corrected by the dr who explained it very well to me. Cohen DOES have hypo-T BUT she is regulated, therefore she is just like any other baby out there. That is where the concern comes in....she has been regulated now for 4.5 months and has fallen farther off the growth curve, instead of gaining or at least maintaining. This combined with the verbal/speech delays are huge concerns as she approaches her first birthday next month. Dr Bastian feels as though the hypo-T might be secondary to something bigger going on.
So here is the plan of action-- Cohen will have a sedated MRI Oct 9 (rule out obvious malformations, tumors, etc), follow up with endo Oct 21 for results, and then meet with a genetisist Oct 30 to hopefully put all these pieces together.
I do not know what any of this means, I have tried to just be positive and know that they are being cautious. But I am constantly reminding myself to be thankful, I have so much to be thankful for. I am thankful that we have drs who listen and are proactive in Cohen's care. I am thankful that there is only 1 pediatric endocrinolgist in that area and Cohen was seen within 4 weeks and there is only 1 pediatric genetisist in the whole state and Cohen got an appt next month. I am thankful for listening to my gut and being persistent with Dr Flowers that Cohen's tongue wasn't normal, thankful he listened! Thankful for how far she has come!

If you made it this far, you deserve a gold star!! But I do want to end on a positive note and tell yall all her new tricks. She is cruising everywhere, on all the furniture, and has even attempted her push toys! Physically she is right on target. She learned one hard syllable--duh! This is HUGE!! She started sometime the week before last and it was very rare but lately it has become more frequent. Sunday morning I woke up to her "aahing/oohing" on the monitors, again this was a big deal because this is unprompted "speech" vs one of us stimulating her to talk. We know she is continuing to improve and we just can't get enough of that cute little girl!