On Wednesday we had three doctor appointments. For those of you keeping score, yes, that's one more than the normal week holds. The third appointment was with a neonatologist, the doctor who will be taking care of Mabee after birth. He talked to us about things we hadn't faced yet, and it was by far the most difficult day yet for me emotionally.
He explained that Mabee is one in billions. Her specific genetic makeup has never been seen before. No genetic registry has recorded a case like hers, so the doctors really don''t know what to expect. She is missing information from her 16th chromosome and there is additional information on her 6th. They have seen plenty of cases that have one or the other, but never both.
In cases with an addition to the 6th chromosome, which deals with the back of the brain, it usually means serious physical deficiencies due to a lack of rear brain development. In cases of deletion from the 16th, there is a connection to Rubinstein-Taybi syndrome, which has a wide range of manifestations. The doctor cautioned us that there is a strong possibility for severe mental retardation. Now they have never seen her combination before, but what they know from the separate disorders doesn't seem to lead to positive things..
The understanding of what the chromosomal anomalies meant was new to us, and it was shocking. But the rest of the appointment was the real difficult part. We sat with the doctor and discussed what to do if Mabee isn't breathing on her own when she is born. Do we give her only oxygen, or do we intubate and put her on life support? Or what if her heart stops? Do we want them to do CPR and administer drugs to energize her heart? And if we lose her, do we want to do an autopsy to give information to the medical world about our one-of-a-kind baby and the way she was designed?
These were tough subjects to just talk about, but making those decisions was heart-breaking. What do you do? CPR is hard on a tiny body. If she isn't breathing on her own and her heart stops, is that a clear sign from God that she wasn't meant to survive? Knowing these are all real possibilities I continue to pray the God will make all of these decisions for us. I beg Him to take our decision making out of play.
The original due date was May 21, but all signs are pointing to an early arrival. If Mabee's growth has slowed any more at our appointment on April 28 the docs are planning to deliver then. That is soon....
I think Joy and I are doing alright. We are tired, but we have had time to rest this weekend. We are emotionally exhausted, but God is filling us with love from his people. We have both realized recently that our hurt is not in vein. We live in a broken world because of sin. There is pain and suffering because of sin. But our God, who love us unconditionally, can make beautiful things out of terrible situations. We have seen glimpses of this already, but I am sure his work in our baby girl is not over. I just pray he will take away our humanity long enough to see his work played out.