Yesterday, was Meghan's 6 month check up with the Geneticist.  She also had her 3 month ultra sound.  Luke didn't have school, so he got to come along with us to the appointments.  He wasn't too happy about it, but once we were there, he was fine with it and he even held her hand while she had the ultra sound and blood draws.  He just doesn't like to hear her cry.

Here's what we found out:
1.  Her low IGF-1 is a good indicator that Meghan does have a growth hormone deficiency.  BUT, she said the funny thing with growth hormone is that it can fluctuate throughout the day and that is why the Endocrinologist wants to recheck in 3 months.  She did say Meghan's number is quite low, so probably a good chance it will be low again.  But, we won't speculate until it's re-checked and then we'll go from there.

2.  Meghan developed a rash on the right side of her body around 6 months of age.  Of course, every doctor we have talked to about the rash said it will eventually go away.  Well, it hasn't, it just keeps spreading even with the use of multiple different lotions and creams.  She brought in a 2nd geneticist to look at the rash and they both agreed Meghan would be a good candidate for a skin biopsy because of this mysterious rash.  We have already had a blood test to look at her chromosomes.  Meghan's came back normal, except a duplication on her X chromosome.  With the biopsy, it will allow them to get down even further to look at the cells.  She suspects Meghan has some sort of mosaic thing going on and could possibly even have 2 separate sets of chromosomes - one set on each side of her body.  The reason for this suspicion is because Meghan's rash doesn't cross over the midline of her body at all.  It stays completely on her right side...all the way from her head to her feet.  She will have 2 pieces of her skin taken for biopsies and this will be done in May while she will be sedated for her MRI.

3.  She referred Meghan to a pediatric opthmologist to have her vision checked due to her brain conditions and possible mosaic issue.  She also wants Meghan to see a dermatologist.  Both of these appointments will be done in the next 3 months.

4.  They did some blood draws yesterday to check into a couple more conditions.  It could be a couple weeks before we get those results.

We're waiting to hear results from the ultra sound and to check fluid level in the right kidney.  Our next appointment is next Friday with the Neurosurgeon.  I'm looking forward to that appointment because there will be no x-rays, MRI's or blood draws.  Just a neuro check, developmental evaluation and to check her shunt....YAY!!!!