"Good Morning Ladies. It's Dr. Y. I was calling to check on Maxwell. I got one of his state screen tests back and I want to talk to you about it. So I'll try some of your other telephone #s. If you get this message please call the office and ask to speak to me ASAP."
That's the moment the world just kind of stopped for us.
I glanced over at my newborn son who was sleeping peacefully with a belly full of milk and remember thinking "Huh? He's perfect."
We immediately called back our pediatrician and we were told that Max had an elevated level, on the state of Ohio newborn screen, for a fatty acid oxidation disorder (FOD). We were told to take Max immediately to an off campus lab for Nationwide Children's Hospital (NCH) and have an acylcarnitine profile done on Max. We were also told that we could not let Max go any longer than 4 hours without eating. The pediatrician reassured us that it was very common to have a false positive on the newborn screen and that there was currently no need to worry.
The state of Ohio newborn screen tests for 36 rare to very rare genetic disorders that can be found in a newborn. These genetic disorders are screened on all newborns because if a disorder is caught ASAP then an infant has a chance at survival. Otherwise many infants, with one of these diseases, often die because parents do not know that their child is affected with a disorder.
So off we went with our 6 day old son to have bloodwork done to check particular levels of fatty acids. Max did a wonderful job. It was simple prick of the heel where there simply collected a few drops of blood. We were told the results would come back in 24 - 48 hours.
My phone rang on July 15th @ 8am and I knew immediately in my heart that this was not going to be a good phone call. The results were still abnormal. An appointment had been scheduled for us on July 18th (stupid weekend wait) @ 10am with the genetics department at NCH. It was also reiterated to us again that we must not let Max go more than 4 hours without eating.
No problem. This will be a great weekend.
I never asked the pediatrician for the name of the specific disorder. I knew I would Google it and I was determined to let a qualified physician give me information instead of the Internet. I did know however from the Internet that the state of Ohio newborn screen tested for approximately 9 different FODs.
We met with the Chief of the Genetics Department at NCH on July 15th. I remember thinking to myself about a hundred times during the appointment, "We got an appointment with the Chief of the Genetics Department at the 4th largest pediatric hospital in the country in (technically) less than 24 hours. This must be serious." The physician also gave us his business card and told us to call him direct 24/7. Ok. Serious.
The newborn screen showed that Max has an elevated C16 level which indicates a + result for either Carnitine Acylcarnitine Translocase deficiency (CACT) OR Carnitine Acylcarnitine Translocase deficiency Type II (CPT-II). The physician quickly iterated that he could not confirm that Max has either disorder simply via the newborn screen. There are 150k babies born in the state of Ohio each year and a newborn is diagnosed with one of these disorders every 2 or 3 years. So it is VERY RARE. It is a recessive genetic disorder which would mean that both myself and the donor would have to have a broken copy of the gene. And then any offspring would have a 25% chance of receiving both broken copies of the gene and approximately 1 in 3,000 people are a carrier for this disorder. So basically it's like hitting a really bad jackpot. The team at NCH initially did a statistical analysis based on Max's blood test results where his C16 levels were compared to all babies that had previously received a + newborn screen for these disorders in Ohio and approximately 7 other states. A lot of times, if a blood test result is low enough, then Max could easily be deemed "not affected" by the disorder and the physician would close the case. But Max's blood test result were in a "gray area" where some babies were eventually diagnosed with the disorder and some babies were eventually found to not have the disorder. So the physician suggested completing a DNA test on Max that would tell us with 100% certainty whether or not Max received 2 broken copies of the gene and is thus impacted with either disorder. It will take 3 weeks for us to get results of the DNA test.
The greatest risks associated with the disease occur if Max would have any period of fasting. Both of these disorders interfere with the body's ability to turn fat into energy. This can cause low blood sugar, seizures, extreme weakness, difficulty breathing, and heart damage should Max go into any period of fasting from food. Because it is common, with an illness of any type, for a child to lose his or her appetite, we received, a letter from the physician that we can present to any ER should Max go a period of time without eating. Max would receive immediate attention (ie. go to the front of the line) with the specific treatment protocol outlined in the letter.
We will begin working closely with NCH should Max be officially diagnosed with either disorder. We are, however, optimistic that the DNA tests will come back negative and we will be able to put this nightmare behind us.
And just as a side note Max was a trooper during the blood draw for the DNA testing. The lab tech had to was unable to get blood from the initial stick and unfortunately another tech had to try in the other arm. I think I cried more then Mr. Max. I was a mess.
Mary
So off we went with our 6 day old son to have bloodwork done to check particular levels of fatty acids. Max did a wonderful job. It was simple prick of the heel where there simply collected a few drops of blood. We were told the results would come back in 24 - 48 hours.
My phone rang on July 15th @ 8am and I knew immediately in my heart that this was not going to be a good phone call. The results were still abnormal. An appointment had been scheduled for us on July 18th (stupid weekend wait) @ 10am with the genetics department at NCH. It was also reiterated to us again that we must not let Max go more than 4 hours without eating.
No problem. This will be a great weekend.
I never asked the pediatrician for the name of the specific disorder. I knew I would Google it and I was determined to let a qualified physician give me information instead of the Internet. I did know however from the Internet that the state of Ohio newborn screen tested for approximately 9 different FODs.
We met with the Chief of the Genetics Department at NCH on July 15th. I remember thinking to myself about a hundred times during the appointment, "We got an appointment with the Chief of the Genetics Department at the 4th largest pediatric hospital in the country in (technically) less than 24 hours. This must be serious." The physician also gave us his business card and told us to call him direct 24/7. Ok. Serious.
The newborn screen showed that Max has an elevated C16 level which indicates a + result for either Carnitine Acylcarnitine Translocase deficiency (CACT) OR Carnitine Acylcarnitine Translocase deficiency Type II (CPT-II). The physician quickly iterated that he could not confirm that Max has either disorder simply via the newborn screen. There are 150k babies born in the state of Ohio each year and a newborn is diagnosed with one of these disorders every 2 or 3 years. So it is VERY RARE. It is a recessive genetic disorder which would mean that both myself and the donor would have to have a broken copy of the gene. And then any offspring would have a 25% chance of receiving both broken copies of the gene and approximately 1 in 3,000 people are a carrier for this disorder. So basically it's like hitting a really bad jackpot. The team at NCH initially did a statistical analysis based on Max's blood test results where his C16 levels were compared to all babies that had previously received a + newborn screen for these disorders in Ohio and approximately 7 other states. A lot of times, if a blood test result is low enough, then Max could easily be deemed "not affected" by the disorder and the physician would close the case. But Max's blood test result were in a "gray area" where some babies were eventually diagnosed with the disorder and some babies were eventually found to not have the disorder. So the physician suggested completing a DNA test on Max that would tell us with 100% certainty whether or not Max received 2 broken copies of the gene and is thus impacted with either disorder. It will take 3 weeks for us to get results of the DNA test.
The greatest risks associated with the disease occur if Max would have any period of fasting. Both of these disorders interfere with the body's ability to turn fat into energy. This can cause low blood sugar, seizures, extreme weakness, difficulty breathing, and heart damage should Max go into any period of fasting from food. Because it is common, with an illness of any type, for a child to lose his or her appetite, we received, a letter from the physician that we can present to any ER should Max go a period of time without eating. Max would receive immediate attention (ie. go to the front of the line) with the specific treatment protocol outlined in the letter.
We will begin working closely with NCH should Max be officially diagnosed with either disorder. We are, however, optimistic that the DNA tests will come back negative and we will be able to put this nightmare behind us.
And just as a side note Max was a trooper during the blood draw for the DNA testing. The lab tech had to was unable to get blood from the initial stick and unfortunately another tech had to try in the other arm. I think I cried more then Mr. Max. I was a mess.
Mary
