A week after Cooper was born I got a phone call from the pediatrician’s office asking if we could come back in so the doctor could go over Cooper’s newborn screening results. I made the appointment for the next day and really didn’t think much about it. The nurse practitioner had seen us earlier in the week and I just thought the doctor wanted to meet his newest patient.
I should have known better.
Zach and I both went to the appointment on Friday afternoon, still having no clue what was coming. The doc came in and sat down. He told us that when we left the hospital they did a routine screening on our baby. They do this for every baby. Part of what they screened for was something called the IRT. It checks some enzyme in the body and if it is off it can indicate the baby has cystic fibrosis. A normal result is considered anything less than 60. Cooper’s score was 278.
My heart stopped. I squeezed the little guy in my arms a little tighter and tried very hard to focus on what the doctor was saying.
He mentioned that this was only a screening and that it wasn’t always right. We would have to do more tests and blood work to confirm or rule out the diagnosis. If it was positive we would have to immediately begin seeing specialists. A team approach was the way he put it.
He explained a little about what cystic fibrosis was and how it could affect our little guy. CF is a genetic disease that is passed from both the mother and father. Both parents have to be a carrier and had to be passed to the child. Neither of us have a history of CF in our families but oftentimes people don’t know until they have a child with it. It affects the respiratory and gastrointestinal systems of the body. It is a very involved diagnosis.
We left the office with instructions to go to Children’s Hospital monday morning to have blood work (repeat IRT and genetic testing) and double sweat test.
We left in shock. Hurt. Sad. Scared. Anxious.
After a very long weekend, we took our little guy to Children’s for his testing. The doctor had told us that we could go any time for the testing, but he was wrong. The blood work did not have to be scheduled, but the sweat test did and they would not do it that day. We went home frustrated and irritated.
Later that morning, I got a call from the CF clinic director who said that she had gotten our information from our pediatrician and the health department. She asked if we could come on Wednesday that week to have the testing done through the clinic. She was very reassuring and gave me a lot of information about the testing and what the plan would be. She also gave me her phone number so I could call with any questions.
We went on Wednesday and met the clinic director I had spoken with on the phone, one of the doctors that runs the clinic and had the testing completed. The blood work was no big deal aside from the whole sticking a needle in my 2 week old baby’s arm. The sweat test was not terribly fun and was even worse when little guy did not even sweat. They said this was normal for babies his age because his sweat glands were not fully developed.
The doctor checked him out and said he looked normal. He asked us about symptoms of CF (greasy stools, very congested, difficulty pooping). Cooper had shown no symptoms at all. He did have difficulty with his first stool after he was born, in fact he’d pooped 3 times by midnight after he was born at 2:57pm. He mentioned that one of the causes of a positive or high IRT score can be a difficult labor and delivery. I think he qualified for that. The other thing that could have happened is error with the person taking the sample. This was also a strong possibility.
They sent off his blood work and told us we’d know something in a couple of weeks. We scheduled an appointment for a repeat sweat test in June.
Of course, we did some research and found out that only a small fraction of positive newborn IRT results actually end up with the diagnosis of CF. This was in big bold print (BBP) on the CF website and we clung to this throughout our long wait. My mom would often just blurt out BBP during our conversations as a reminder!
About a week later the director called us with the results of his repeat IRT. His score this time was a 14. This was very normal!!
Three weeks later, the director called and told us she had just found out that his blood for the genetic testing had been lost. They really didn’t know what happened and she apologized but requested we bring him back for repeat blood work. I took him the next morning and poor little guy had to have blood drawn from both arms. It was awful. He was so calm one minute and then they stuck him and he just cried and cried. I know it hurt. I thought they were done and had picked him up to console him and the guy said we had to do the other arm. So very sad. I am now convinced it is possible to hurt even when you are not the one being stuck.
Less than a week after that blood was drawn we got the call that the genetics had come back with a double negative. Meaning that of the combinations they tested for he did not have any that indicated CF. He wasn’t even a carrier.
We still had to go for the repeat double sweat test to confirm everything because there was a remote possibility that he had a genetic combination that they did not test for. I took him yesterday and got the results that afternoon that he was a double negative with scores of 10 and 13.
During this whole process we were reminded that God is in control. He has a plan for our lives and for the life of Cooper. While the diagnosis of CF was certainly not what we had planned for our little one, we came to realize that it might have been in God’s plan. We are truly grateful that this was not the course he had for our family, but know that He would have seen us through and received all the glory.
I clung to Isaiah 41:10. I love the Message version...
"Don't panic. I'm with you.
There's no need to fear for I'm your God.
I'll give you strength. I'll help you.
I'll hold you steady, keep a firm grip on you."
I have no idea why we had to go through this, but I do believe that He has a plan. That he used it to draw us all a little closer to Him. And to remind us that He is in control and that He will give us exactly what we need.
We will never take for granted the gift of our beautiful, healthy baby boy.
(Mom and I bought this shirt on one of our recent shopping trips. We thought it was so cute and didn't even realize until Dad pointed out that the number is 14)
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