We saw the geneticist on Friday, and now we have more questions than we did before, although really of a different kind. The doctor says that Ilse has very few of the dysmorphology associated with SLOS-- Barely discernible 2-3 syndactyly on one foot, slight ptosis of the eyelids, a small head, and obviously.... the high 7DHC. Apparently she almost can't be classified as SLOS, and yet the doctor said that his impression is that she has it.
Then there is the question of how she got the syndrome. We were all done at our appointment and about to leave, when the doctor came back in the room saying that it just didn't make sense. He asked me again about my infertility, stating we must have had many miscarriages. He was very surprised that we hadn't even had one, and yet, here we are finally conceiving a baby with SLOS?
Then he gave us his solution to why we were infertile and how it came abut that Ilse has SLOS. The doctor thinks it is more likely that I gave Ilse two mutations..... And Tim didn't contribute any to that particular gene. This rare occurrence is called UPD, Uniparental Disomy. He believes that is more likely than two girls in one family both marrying carries of the syndrome. If that is the case, and we'll be doing the test to determine it, then the chance of us having another affected child is less than five percent. Regardless, though, of whether the chance is less than five percent or twenty-fve percent, we still want more kids. Of course, the Lord will or won't give us more, depending on His will and His perfect timing. And whoever he gives us will be precious be they affected or not. It is true that if we have another affected child, she will be the same mildness as Ilse.
That is something else the doctor said, that Ilse's prognosis seems to be unusually good, and quite abnormal for a child with SLOS. Either it is the doubled mutation I gave her that is mild, or it is the previously undetected variation that is so mild so as to have Ilse developing right on track for her adjusted age. I know I keep mentioning that, but truly, it is because I really marvel at how well she is doing. She has come a long way from her sad (to me) beginnings.
Now I just need to remember to give her egg. It sounds easy, but believe me, it isn't. It is totally not in my routine to give a baby egg. Odd. Very very odd.
The cessation of pumping is going well. I had a severe problem the other day. I almost had Tim call me an ambulance because I thought I was at death's door. I was severely achy, nauseated, bad headache... etc.. I have since done some research and I believe I sad trying to stop pumping too fast and I had a physical and hormonal reaction. I've been doing much better since now that I have read the proper way to stop pumping.
Ilse is doing better on the formula than she did at first. I am very thankful for that. Also, in therapy we are working on her eating from a spoon. She is doing fabulously. When she is eating food reliably, I plan to make the baby food. Until then, I am going to buy it. Shameful, I know, but that is that. :)
Ilse can now lift her head for a long bit of time while she is laying on her tummy. She is uber cute doing it. If she weren't afraid of the camera I could video her. Oh well.