Half a year already? Hard to believe. What a huge difference life is now from when Natalie first arrived in January. She has such a personality already. I love to make her smile enough to see her tiny dimple. We did an exercise in ‘what do I love about my brother or sister’ a few weeks ago mostly to help Zach and Julia. Zach said right away he loved how Natalie was so happy all the time. Course, when they were watching her shots get fired in yesterday, he knew to hold his ears in preparation for the “I’m in pain cry.”
Saw the pediatrician on Monday and will see the geneticist tomorrow. I came armed with all my research with my main goals being some sort of help for Natalie’s constipation and clearance for her to take Nutrivene-D. For the constipation issue, the doctor doesn’t’ think it has a connection to dairy products because it would be more of the diarrhea variety rather than constipation. I’m stilling limiting dairy just in case but not being so strict. The doctor gave me a dosage for Miralax and said to try Prune juice daily for awhile. I mentioned that gotten a checklist from the National Down Syndrome Society for things to check in the first year. It mentioned screening for Hirschsprung disease. I thought it would have been discovered at birth but the doctor said no and Natalie’s problems would fit that. It’s when nerves don’t form at the end of the rectum making it difficult to feel when to go to the bathroom. The surgeon would remove the portion of the intestines without nerves and sew it back together. It requires a biopsy to tell for sure. I’m supposed to ask the geneticist if that’s really something they need to check for tomorrow and then have her stomach surgeon do the biopsy. The pediatrician said if she does improve using the Miralax and prune juice, it’s a good sign she doesn’t have Hirschsprung disease. I gave her Miralax when we got home yesterday and she went in about 10 minutes so I’m hopeful. I’m also continuing to take flaxseed oil in hopes that it will help her as well.
For the Nutritional Intervention, I explained I’d read that the extra chromosome causes and overabundance of the SOD gene. Too much SOD causes there to be too much hydrogen peroxide in the body, which, in turn, damages cells (just like it damages bacteria cells when you pour some on a cut). The most susceptible to H2O2 damage seem to be brain cells. At first, the doctor was hesitant but when I showed her the research and the ingredients, she said she didn’t see anything in it that would hurt Natalie. The doctor did suggest I bring it up with the geneticist too.
As for normal baby stuff, she grew a lot from her 4 month checkup. She’s now 14 lbs 4 oz (20% on the normal development chart!) and 24 3/4” (20% on the normal development chart). I’ve been told it’s good to even make the chart so 20% is great. So, looks like her 
thyroid is functioning since she’s growing well. The doctor said the smiling and alertness is a good sign the thyroid is fine too. We are supposed to get it tested at 6 months so will probably do that at the geneticist office Wednesday. Low thyroid during developmental years can lead to mental retardation and since Down’s kids can often have low thyroid, it’s very important to keep a close eye on it. Oh, yeah- and she can grab her toes now! :)
Sounds like a great visit. It also sounds like the pediatrician may not be as up to speed on Downs as he/she could be. I know the geneticist is for that, but you don't get to see that person as often, right? Should you look for a pediatrician that has a specialty in Downs? Does that exist?
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