|Date of Passing||May 2014|
|Diagnosis||10q(23.32q26.3) and deletion 5p15.33p15.2 (cri-du-chat)|
|Parents||Robert & Robyn Richardson|
|City||Lancaster, CA, USA|
|icepri3 [at] yahoo [dot] com|
After being in triage for about 3 hours, my obgyn and specialist decided she was too small to continue and scheduled an emergency c-section. While in the OR, was the first time I heard anyone say that she wasn't just IUGR, but severe IUGR. Immediately following her birth, they put her on oxygen and in an incubator. I heard her cry 3 times, and I mentioned to my husband she sounded like a cat meowing. Now we know it was due to a genetic deletion 5p15.33p15.2. It is called cri-du-chat syndrome, and also among rare diseases.
After surgery, we were brought to the nicu and spent about 5 minutes before being brought to my room. An hour or so later the nurses came in and asked me to sign paperwork saying they could do procedures. About an hour after that they came in telling me she was being air lifted to another hospital in another county to a level 4 nicu, the most severe. The helicopter team was there for 4-5 hours working on her, one nurse hand ventilating the entire time. We were told her blood wasn't being oxygenated because of her heart and lungs. I was told she had pulmonary hypertension.
My husband was with her the entire time. The nurses finally came in and all of a sudden I was out of bed only 9 hours after surgery. The helicopter crew ran her to me so I could say goodbye and told me she probably wouldn't make it to the other hospital. I had 1 minute and they literally ran to the helicopter.
After an hour of waiting, not knowing, we got a call saying she made it. My husband left immediately to drive the 2 hours. During that time I got a call saying she basically had acid running through her veins.
After about 2 hours watching her suffer, my husband called and said she wasn't going to last much longer. My mom told the nurses I was leaving regardless if the Dr said yes or no. Luckily he said discharge immediately and I was out of the hospital in 5 minutes. I rode the 2 hours on a very bumpy road just concentrating on getting there. About 20 minutes before I got there, my husband called and said he had to take her off the machines. He kicked everyone out of the room and held her until she was gone.
I didn't have more than a minute of holding her hand before she passed and only 6 minutes with her total. When I got there we made everyone leave the room so we had a few minutes alone. The Dr came in and suggested an autopsy and assumed there was a genetic disorder affecting her heart and lungs. We got the blood analysis a few weeks later. I don't know what the odds of getting 2 rare diseases are, but based on how long she was coding she would have been brain dead. That and both genetic diseases, I can't help but feel she was not meant for this world. I just wish one of my Dr's would have done an amino so we could at least been prepared.