The following Tuesday, we left for Children's Medical Center in Dallas to visit with Dr. Lewis Waber - a metabolic specialist. As we entered the hospital, chills ran down my spine - realizing that my 2 week old infant was at another hospital.
The genetic counselor and the doctor sat down with us and immediately calmed my fears about treating her condition. In a nutshell, here's what I learned:
- Until Caroline is 5 months old, she can not go longer than 3-4 hours without eating (which means she'll never get more than 3 1/2 hours sleep in between feedings)
- At 5 months, she can go 5 hours, 6 months, 6 hours. Up until 1 year, the amount of time she can go increases each month - with the max being 12 hours beginning at 1 year of age.
- At one year (and beyond), we will give her a snack at bed time (crackers and milk, etc), and then breakfast once she's awake.
If/when she gets sick, we make sure she avoids any period of fasting. Measuring blood sugar levels is a not a good indicator, because at the point they are low, she may already be in the middle of a metabolic crisis. Our rule of thumb (once she's a year old) is that if she can't keep down two meals (breakfast and lunch) - then she goes to the ER. Prior to a year, we will have to watch even closer, and quite possibly take her if she goes 4 hours and will not eat due to illness.
They provided us with an emergency protocol letter that indicates she will need 10% intravenous glucose upon arrival to the ER.
Bottom Line: If she eats, she will stay healthy, if she won't eat, she needs glucose.
The reassurance I received at the clinic was that as long as you bring her in at the first sign of a fast (due to illness), she will be fine and can avoid any metabolic episodes.
Regarding the genetics associated with her condition, we learned that she's 1 in 20,000 infants. We also learned that we have a 25% chance of having a second child with MCAD. Our siblings all have a 50% chance of also being a carrier, so it may make sense for each of them to have genetic counseling prior to conceiving - just so they are prepared if their spouse is also a carrier. If Caroline marries a carrier, they will have a 50% chance of having a child with the disorder.
We also learned that Texas has only included the MCAD deficiency on the newborn screen for the past 4 years. Given the fact that my husband and have been married for 9 years, it was a blessing that we didn't have children sooner!
And speaking of blessings, I finally have come to terms with the fact that given everything we know, early detection has been and will be a blessing for Caroline. I must not dwell on why, but focus on how we can keep her well with God's help.
Friday, June 24, 2011
My daughter has what?
My intention with this blog is to document our family's journey, and in the process provide support and reference for others who are dealing with the same diagnosis. Here is the beginning of our story...
Caroline was born on June 1, 2011 via c-section. It wasn't a planned c-section, however, we were blessed to move forward with the procedure, considering her umbilical cord was wrapped 3 times around her neck at delivery. That being said, she came out perfectly healthy and happy :)
After 3 days in the hospital, we took our little girl home. She started to really gain weight, as I was exclusively breastfeeding and my milk came in on day 3.
By the following Tuesday (she was 7 days old), I received a call from a nurse at our hospital explaining that Caroline's newborn screen had come back positive for MCAD deficiency. At this point, I wasn't totally alarmed because as far as I knew, my baby was totally healthy and this might just be a little something that needs to be treated temporarily. The nurse reassured me on the phone that as long as I was feeding her every 2-3 hours (which wasn't a problem), she would be fine.
As the day went on, I got a call from my new pediatrician, as well as the residing pediatrician that I used at the hospital. Both seemed alarmed and concerned about the potential diagnosis. My new doc even told me to look for signs of lethargy and if they existed to rush her to the nearest emergency room. At this point, I really started to freak out.
I wanted so bad to google her condition, but I held off because I knew that would just set off more alarms in my head and heart. I was already an emotional basket case from giving birth, and even more so now that I was learning my daughter -- my newborn baby girl had a chronic health condition.
Thankfully, my husband went to the internet, read up on MCAD and gave me his very safe, interpreted version of her condition.
The next day we visited the pediatrician, who, again was very alarmed about Caroline's potential for having this deficiency. She explained that out of their very large practice (4 MD's and 1 PA), they have only had one other patient with MCAD and he is now 13. She reassured us that Caroline should have a very normal childhood and that the fact we know about her condition is a blessing. Albeit, I wasn't seeing it as one at that point... All this said, it was fairly clear that her experience and knowledge of this disorder was very very limited due to it's rarity.
The same day, we went to the children's hospital for lab work - and that was probably one of the most terrifying experiences of my entire life. Holding my precious baby while they draw blood from her arm as she screamed bloody murder. Needless to say, I was also hysterical.
Surprisingly, the results came back the very next week with a confirmation that she was indeed MCAD deficient. I was even more distraught. We had read so many things about diet, restrictions, illness, "episodes", complications, etc. The pediatrician told me to expect a call from the Metabolic Clinic at Children's Medical in Dallas to schedule a follow up appointment the next day.
At this point, I knew two things-- 1) I needed to pray for peace, understanding and acceptance and 2) the specialist clinic was the only place where I would seek the answers and reassurance we needed to move on.
And, I'm not always right, but I was certainly right this time -- on both accounts. By 11 AM the following day, I went ahead and called the clinic myself. And, of course I got emotional with the receptionist, which apparently set off alarm bells throughout the clinic -- and in turn got me an appointment for the next Tuesday! (I guess being crazy, emotional first time mom can pay off).
Next up --- the visit with the specialist...
Caroline was born on June 1, 2011 via c-section. It wasn't a planned c-section, however, we were blessed to move forward with the procedure, considering her umbilical cord was wrapped 3 times around her neck at delivery. That being said, she came out perfectly healthy and happy :)
After 3 days in the hospital, we took our little girl home. She started to really gain weight, as I was exclusively breastfeeding and my milk came in on day 3.
By the following Tuesday (she was 7 days old), I received a call from a nurse at our hospital explaining that Caroline's newborn screen had come back positive for MCAD deficiency. At this point, I wasn't totally alarmed because as far as I knew, my baby was totally healthy and this might just be a little something that needs to be treated temporarily. The nurse reassured me on the phone that as long as I was feeding her every 2-3 hours (which wasn't a problem), she would be fine.
As the day went on, I got a call from my new pediatrician, as well as the residing pediatrician that I used at the hospital. Both seemed alarmed and concerned about the potential diagnosis. My new doc even told me to look for signs of lethargy and if they existed to rush her to the nearest emergency room. At this point, I really started to freak out.
I wanted so bad to google her condition, but I held off because I knew that would just set off more alarms in my head and heart. I was already an emotional basket case from giving birth, and even more so now that I was learning my daughter -- my newborn baby girl had a chronic health condition.
Thankfully, my husband went to the internet, read up on MCAD and gave me his very safe, interpreted version of her condition.
The next day we visited the pediatrician, who, again was very alarmed about Caroline's potential for having this deficiency. She explained that out of their very large practice (4 MD's and 1 PA), they have only had one other patient with MCAD and he is now 13. She reassured us that Caroline should have a very normal childhood and that the fact we know about her condition is a blessing. Albeit, I wasn't seeing it as one at that point... All this said, it was fairly clear that her experience and knowledge of this disorder was very very limited due to it's rarity.
The same day, we went to the children's hospital for lab work - and that was probably one of the most terrifying experiences of my entire life. Holding my precious baby while they draw blood from her arm as she screamed bloody murder. Needless to say, I was also hysterical.
Surprisingly, the results came back the very next week with a confirmation that she was indeed MCAD deficient. I was even more distraught. We had read so many things about diet, restrictions, illness, "episodes", complications, etc. The pediatrician told me to expect a call from the Metabolic Clinic at Children's Medical in Dallas to schedule a follow up appointment the next day.
At this point, I knew two things-- 1) I needed to pray for peace, understanding and acceptance and 2) the specialist clinic was the only place where I would seek the answers and reassurance we needed to move on.
And, I'm not always right, but I was certainly right this time -- on both accounts. By 11 AM the following day, I went ahead and called the clinic myself. And, of course I got emotional with the receptionist, which apparently set off alarm bells throughout the clinic -- and in turn got me an appointment for the next Tuesday! (I guess being crazy, emotional first time mom can pay off).
Next up --- the visit with the specialist...
Subscribe to:
Comments (Atom)