Meghan had a couple appointments yesterday.  First we met with her Geneticist.  Meghan's regular Geneticist moved out of state, so this was the first time we met with her new Geneticist.  We were pretty impressed with him and I loved that he got to her level and joked with her throughout the appointment.  It made her feel at ease.  To sum up the appointment, he is putting Meghan in the category of having an undiagnosed genetic condition.  He feels very strongly that she has a genetic condition that can tie most, or all, of her conditions together.  However, it could take years to find our answer.  She's had some genetic testing done already, which has come back with no answers so far.  But, there are other tests we can do to see if we can find our answer.  She's been tested already for Beckwith Wiedeman syndrome, which came back 80% negative.  He said there are a handful of people whose test comes back as 80% negative, but end up having BWS.  So, our first step is to completely rule out BWS, which will be done with a blood test once insurance approves the testing.  If that comes back okay, our next step is to have a fibroblast cell test done, which will be done using the cells from the skin biopsy she had done in November.  The lab that did the test on her skin biopsy froze some cells, and if we end up needing to do the fibroblast, the lab will grow new cells from the biopsy and the test will be done on the new cells.  If, after we don't have answers from that, we will have genome sequencing done.  There are 22,000 genes in our bodies and this test looks at every single gene.  However, this test is extremely expensive, so it could require the Geneticist to write a letter on behalf of Meghan as to why the test is needed, which he is on board to do.  If all of this comes back without answers, we will re-submit all of the bloodwork/cells in 5-10 years.  Science is always evolving and even if we don't get answers in the next year or two, 10 years down the road there could be a test available which could give us our answer.  He also feels that Meghan's lack of growth is probably due to her undiagnosed genetic condition, especially since growth hormone shots aren't helping her grow adequately.

Then we saw the Endocrinologist.  She agrees with the Geneticist that her lack of growth is most likely due to her unknown condition.  We just don't know how to treat her growth because we don't know what the cause is from.  She would've expected to see much more growth by now.  3 months ago Meghan was at -3.79 on the growth chart.  At yesterday's appointment, she was -4.07% behind.  She increased the GH dosage and we are going to give it another 4 months.  If in another 4 months, there still isn't adqueate growth or catch up growth, we will discontinue GH shots.  We can always try again at a later date.  We all agreed that if it isn't working, there is no need to continue giving her the shots.  She did enroll Meghan in a study that will watch her growth and will follow her on what works and what doesn't work on her.  We discussed a problem that we are running into with Meghan lately.  We have been trying the "eat what you want" approach with her.  However, this has not been a good thing at all.  Meg will over eat and will be up all night long with bad stomach pains/nausea.  Meghan just doesn't have the ability to stop eating when she is full, and over eating could cause her stomach to burst open, which would be extremely devastating.  So, we are to limit her portions so she doesn't over eat, as well as have strict set meal times, which we already have.  We are learning as we go with her food.

She was due for blood draws yesterday, which resulted in 3 failed attempts.  The nurse tried taking blood from each arm and was unsuccessful in getting any blood at all.  Her veins kept rolling.  So, we need to let her arms rest for a few days and try again to get the blood.  We need to check her AFP tumor marker.

Meghan is almost finished with her first year of preschool!  I think she will really miss going to school and it's been great to see her develop great social skills!