Emily was born with her triplet sister and brother in August of 2007 at almost 34 weeks. She was baby "C", the last one out.
Here she is with me in the NICU
At birth we did not know that Emily had a chromosome disorder (we had actually had testing done that told us her chromosomes were normal during the pregnancy). We were well aware that any of the babies could have issues arrive due to being premature, but 34 weeks for triplets is actually above average so we were hopeful.
When they started eating by mouth, Emily seemed to have the most trouble, and once, when I was nursing her, she turned blue and almost stopped breathing!! So scary. The doctors had also noticed some of her facial features were abnormal like low set, tipped back ears and extra creases on her eyelids that might indicate Down Syndrome. So we did another test and it showed she did not have Down Syndrome.
Carter and Brenna each came home after 2-2 1/2 weeks but Emily ended up having to stay in the NICU for 5 extra weeks to continue to figure out eating. But, she did and got to come home in early October!
Drew showing off his babies - Emily is in the middle
Things were going pretty well at home for Emily though we were noticing that she took longer to eat, slept more than the other babies, and didn't seem to be very interested in toys. But these things didn't really concern us too much.
However, we were concerned about her head shape - it was very flat on one side and in the back, so we were referred to see the head/facial plastic surgeon at our Children's Hospital (in Philly) just to make sure her skull bones didn't fuse prematurely, hindering brain growth. They had not, but he was concerned about her upon seeing her, as he noticed some of the same features the NICU docs did. He had the geneticist come see us right there in his office. She explained to us that she also recognized these features and would recommend a more in depth test (who knew there was one?? It's called the FISH) to check for any chromosome deletions or duplications or other rarer syndromes, possibly Noonan's syndrome. So we had blood drawn, but the results would take 1-2 MONTHS!!!!
After a few weeks Emily started having these episodes of jerking and screaming/crying, most notably during or after eating, but they often occurred any time day/night. So after getting reflux meds changed in 3 different visits to the pedi, we went to a local ER and they too said it was reflux and adjusted her meds. These jerking, gagging "reflux" episodes just continued to get worse so we were referred to a GI at CHOP (the children's hospital). Our appointment was scheduled for 12/27/08. (Just got a tear in my eye as I realized that is the day we will be flying to Florida for her wish trip - two years exactly!)
We had our first Christmas with the babies - I'm looking a Em yawning on the right.
At our appt the GI doc was concerned. We had taken a video of the episodes because she conveniently never had them during doc appts, and he said it didn't look like reflux to him at all but probably seizures (which we were beginning to suspect). Then he noticed that she seemd lethargic and not as responsive as she should've been. She had also been constipated and had a slight fever that day. He suggested she might have botulism and gave me a specimen cup and lab slip and sent us off.
Well, I sat in the car and cried. He just told me that she was most likely having seizures and that she could have botulism and I should go home??? So I drove over to CHOP ER and the rest is a crazy mess of awful diagnoses and treatments and hospital stays.
They told me within hours that she was having seizures, infantile spasms to be exact. The fever was from a mild UTI. She did not have botulism!The next day she had an MRI (normal!) but because she had been having feeding and developmental delays before the spasms started that most likely this would mean a poor outcome for her and some type of mental retardation on a scale anywhere from mild to severe. During her MRI, the geneticist came and found me. The results had come back (it was almost exactly 1 month later) and they had a diagnosis. Emily has an unbalanced translocation of chromosomes 7 and 9. This is not just one disorder, but two. She has a duplication on 7 and a deletion on 9. The outlook for this is poor as well, but there is little to no data because it is that rare, there is no syndrome name, support group, research etc.