In the morning of my birthday about 36 hours since we brought you home, we had our first pediatrician appointment.
At that appointment my daughter was measured and weighed 4 lbs 4 oz and measured 16.5 inches. We discussed about the baby's health history and we gave the doctor the litany of things that my daughter has.
2 cysts in the brain, fluid in the brain, underdeveloped corpus callosum, gall bladder cyst, underdeveloped kidneys, cleft palate, and suspected hearing loss. He jotted it all down in his computer.
We discussed feeding frequency and volume and a few minutes later we were done and was told to schedule a follow up appointment in 2 days. He also added that since my daughter has a lot of issues we should be expecting that we need to be meeting with him, the pediatrician, more frequently than the average baby.
After the appointment my husband went to the pharmacy to get some meds. I took the baby out of the carseat and held her. I spoke to her and told her that we were going to prove the world wrong. That she has enough brain structure in her head to compensate and that she has enough kidney to function. I was crying but I felt very hopeful.
Around 330pm of that day the phone rang and it was the genetics department at LPCH. Again, I had the priviledge of being personally called by the doctor (which means bad news). He said that the chromosome tests were in. I asked if they found something, and he said yes. I asked about what they found and he said that they found that my daughter has Wolf Hirschorn Syndrome (WHS). I have never heard of that syndrome.... and now that there was a diagnosis that ties all of what my daughter has altogether, I was not sure if i should feel relieved that we have a label for her.
I didn't finish that phone conversation with the doctor... I passed the phone onto my husband because I just broke in tears and started to sob uncontrollably.
When I was able to manage to recollect myself I decided to go on the internet to read on the syndrome. If I was going to battle through this I need to arm myself with information. But gaining knowledge about her syndrome didn't really make me powerful... reading about WHS made my heart feel like it was being shredded in pieces.
Wolf-Hirschhorn syndrome, also known as deletion 4p and 4p- syndrome, is caused by a partial deletion of the short arm of chromosome 4. About 87% of cases represent a de novo deletion, while about 13% are inherited from a parent with a chromosome translocation.
The most common abnormalities seen include severe to profound mental retardation, microcephaly (small head), seizures, poor muscle tone, and cleft lip and/or cleft palate. Characteristic facial features, include strabismus, hypertelorism, down-turned "fishlike" mouth, short upper lip and philtrum, small chin, ear tags or pits, and cranial asymmetry. Occasional abnormalities include heart defects, hypospadias, scoliosis, ptosis, fused teeth, hearing loss, delayed bone age, low hairline with webbed neck, and renal anomalies.
Whatever happened to the tests and screenings I took during pregnancy to make sure that I was not going to have a special baby? Why of all syndromes did I have to get one that is so rare that I have not nor anyone in the special ed community that I know, have heard of? Why was I the lucky 1:50,000 given that neither me nor my husband are carriers? Why the stupid genetic mutation? Why does it have to be a syndrome with characteristic facial features? Why, on top of everything that my daughter already has, does she have to look "special"? Why?
I then looked at images of children with WHS... and at that very moment, all the hope that I had in me just that very morning died.
I was devastated.
Some birthday surprise huh?