Needing Some Prayers for Our Little Girl

This is a tough week in our house. We received one of those phone calls on Monday night that every parent fears. Ellie had a positive on one of the newborn state screening tests a week ago. The doctor said the test is very sensitive to heat and it was most likely a false positive. We repeated the test and I was a bit worried but didn't think too much about it. Monday night he called again to say that the test came back positive a second time. I felt like was going to throw up my dinner. I literally dropped what I was eating and threw the rest away I was so ill.

Both tests have said that Ellie may have an abnormal enzyme in her blood that doesn't allow her to process galactose in milk. The term for this is galactosemia, and I have never heard of it until now. It is only happens in 1 in every 60,000 children, rare, very rare. She doesn't have the classic galactosemia, which is good because that is very serious. But, she may have a lesser version called Duarte Galactosemia. This could effect her in a few different ways, but mostly it would be controlled through her diet. We would have to speak with a genetic/metabolic specialist to discuss how we would proceed with her diet.

She had more blood drawn yesterday at UVA and it was sent directly to the Mayo Clinic. This is the only place in the country that does this test since it is so uncommon. We will not know the results until Friday (hopefully!). For now as a precaution we have been giving her all soy formula and I have been pumping at every feeding.

The frustrating piece is that this test is very sensitive. It is mostly sensitive to heat. When it was initially mailed in when she came home, it was 90 degrees here. So, we got a letter saying that there were a number of false positives in the state that week. That they believed our baby to be normal, just repeat the test. In general the test has a 40% false positive rate. So, my prayer is that we randomly had a bad test and now another false positive.

Our doctor keeps saying too, that Ellie is doing wonderfully and isn't presenting any signs to be worried. She is growing like crazy. At her last appointment she had gained 9 oz in less than a week. So, she isn't showing us that breast milk is an issue. Once we looked up information on this, we found a list of lactose amounts. Breast milk has 100 times more lactose than cows milk. Wow! I can't believe that something would be wrong and all she has been having is breast milk. It is all just very confusing. She could just have less of the enzyme, but still able to drink milk and go on with a normal life. There are so many different outcomes. For now we just have to wait. Again.

I am so worried.
I am exhausted.
I am scared.
Chris and I had a good cry about it all last night.

Watching your baby get blood drawn is horrible. After two techs and three tries they were finally successful. I was a puddle of tears, and I just can't stand to see this poor baby endure anything else. I am done with all of it. I just want to enjoy life and our new family of four. I feel like we are being punished in some way, and it just doesn't seem fair. Now we have a few more days to be filled with worry.