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...
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