Our little guy went through so much before dx but believe it our not, this is the short version:
He was born about the same size as my daughter. Nursed really well, a lot but not unusually. First sign for me was his stools never turned to a yellow or gold color, they were green and frothy. We went in search of the cause for this and food allergies and a few other things were discussed. I went on a allergen free diet to be sure...nothing helped. At 7 weeks he had only gained a 1lb and developed some tiny bruises on his abdomen and foot. I knew this was not good as there was no physical activity to account for them. I took him to ped'n immediately and we were at the hospital that evening. Horrible things happened there and many things were off including liver, vitamin K levels, low protein, and slightly low vitamin D levels. We do have hemophilia in the family line so we had to be sure it wasn't that - tests confirmed it was not. After 12 hours of bleeding from the line they were trying to put in as he was not clotting, he required a blood transfusion. Finally they administerd vitamin K. I specifically asked for a GI consult as I was still concerned with his less than average weight gain and frequent green stools and spitting up. I kept explaining to them that her ate really well but if felt like it was going right through as if he couldn't get what he needed from it. They were not particularly concerned and said it was more than likely immature digestion and it would resolve as he got older (WRONG-green stool in breastfeed babies is never okay - once a month here and there sure; not everyday). We were released with ADEKs and instructions for further testing including a sweat test.
His nutritional levels being what they were the sweat tests were not successful (not enough sweat to test). His size being so small they wanted to follow the liver issue above getting the CF blood test they requested as we could only take a certain amount of blood each time and the test they ordered require 2 blood draws. His liver enzymes were still off he was still not gaining well and he was really not looking right to me. He was just not a thriving 3 month old, he slept alot, he stooled alot, he had reflux, and finally I demanded to be seen again by the GI team when he began to swell in the hands and feet. I explained he had also developed a horrible rash within the past week as well. This was all too much for me and I wanted answers NOW!!
We went in and finally everyone began to panic -- even though we had been seen at least once a week by a doctor or nurse since leaving the hospital for tests and weight checks-- now they go into "lets do something" mode. She immediately tells me to stop breastfeeding though everyone had said to continue up to this point. Gives us zinc and some predigested protein formula to try for 2 days to get his protein levels up which were now dangerously low at 1.5 (normal 3-5). We were sent to the accredited CF clinic the next day. THey treated Ben as if he had CF administering enzymes, preformed a quick genetic test by pricking his foot, and telling us to get the formula in him as well. It just wasn't working at home, he wouldn't take it orally and I called to ask for us to be admitted. Once there he endured many procedures to get his body to recover from the protein issues. He was given IV albumin to get his protein up, something to get the adema to resolve, ursidol for liver, enzymes, ng tube for the formula supplements, ADEKs, zinc, an antibiotic for staph culture just in case, and reflux meds.
Once his nutritional status improved our sweet baby boy returned to us. He was pink, vibrant, alert and happy. It was amazing. He was finally well enough for a sweat test. It was positive and 1 week after he was released from the hospital the simply dna test they did, confirmed CF.
Many things could have been avoided and we have made sure to write the appropriate people to inform them of the genetic testing available and to support the effort to add CF testing to the newborn screening in our state. Happy to say the legislation passed about a year ago. Now no little tiny CF angel will every have to endure what our baby did due to being undiagnosed. Had this simply test been available when he was born, none of this would have occurred. Prenatal and CF newborn screens should be a US policy; no state should have a choice in the matter as we see it. If you live in a state that still does not have newborn screens...write you congressman and senate people until it does.
