Rett Syndrome – Natalies’s Dietry Needs

Rett Syndrome – Natalie’s Dietary needs

by Nicole Pintoski Jeramie Curtice

Rett SyndromeDietOur Natalie used to scream all day long when she was 3 years old because she couldn’t vocalize.

Natalie has type r294x genotype of the mecp2 mutation. We have learned that this type comes with lots of screaming and very disturbed sleeping patterns. However, we also learned that our daughter also has issues not related to Rett Syndrome at all, or exaggerated by Rett Syndrome.

At first we tried Natalie on the gluten free diet and two weeks later she stopped screaming and she slept through the night.

Then she began having problems on that diet so we tried the gfcf/SCD  diet for 1.5 years. Our daughter did do better in many ways while on the diet. However, she became so thin that we had to rethink our strategy and learned that she was really allergic to milk, sensitive to sugars, barely absorbed any vitamin A, had low creatinine  levels, and only acted calmer on the gluten free diet because it made her hypoglycemic (low blood sugar).

And oh yeah, her creatinine levels were always low because of low muscle tone. This in itself can cause retardation of the brain if the nutrient becomes too low. Creatinine supplement works great. Besides all this, we now also use Elecare powder and blend it with Chocolate Almond milk (milk made from almonds), 3 strawberries, 1/3 banana, pineapple chunks, and peanut butter. Served in a Tummy Tickler sippy from Walmart, it makes for one very nutritious, calorie packed shake.

We give her 3 shakes per day in between meals. 3 meals, 3 shakes, 3 snacks per day. She walks, talks some, eats on her own mostly, and is 5 years old now. She is our miracle child who teaches us about life instead of us her. Our Angel indeed. :)

There was really no “gut disease” in her other than a strong suspicion that milk makes her organs swell up with lot of vomiting. Her diarrhea was only from low vitamin A absorption which was instantly treated with fresh juiced carrot/celery 50/50 juice. Her diarrhea was cured completely after 6 weeks of the juice.

The screaming was ALL associated with SUGAR. Carbs as we all know is our energy, but in sugar form, it is in its fastest burning state and there’s a mystery why it causes r294x girls to scream like sirens all day. Grape juice was the absolute worse trigger.

We tolerated 3 years of blood-curdling screaming, but it was mostly because of either sugars or she was just trying to tell us something like she was hungry or had to go to the bathroom.

Now she is passed that stage of screaming and she still sleeps through the night, so we decided to slowly start adding the foods back and now she isn’t on any strict diet.

I should also mention that our daughter does not take any drugs either besides her daily vitamin and creatine. We don’t give her melatonin, but have tried it, but found that a better diet and peaceful environment works better for sleep.

Every kid is different but I would recommend trying to cut out as many sugars as possible. That seemed to help our Natalie the most.

Watch the sugars and long naps during the day. Sugars seem to be processed different in some Rett girls, giving them hours of endless energy. Also pay attention to her bathroom habits. Our daughter started slapping her baby monitor light every night to tell us she had to go. Like clockwork, she would every night if we didn’t get her on the toilet first.

Also consider her insomnia as distress too. She may be disturbed by something. Just remember that her 5 senses are altered because of the way Rett Syndrome wreaks havoc on the nervous system directly. The 5 senses are sight, smell, touch, taste and sound with a sixth sense of hunger.

If you add one burden to hunger, this will cause her distress. So try to make sure she is snacked up and pooped out before bed. Also make sure that there are no ambient noises keeping her up. The sound thing can be bad on our girls. A ticking clock, cricket, water running, furnace blower going, creaking door, TV, fan, fish tank, etc, can all possibly irritate or distract her.

Our daughter needs complete silence at bed time and no disturbances at night. She goes to bed at 8 and falls asleep by 8:30 and wakes up at 8am. 12 hours of peaceful sleep. But before we figured all this out, it was pretty rough on all of us because she would be up until 2-3am and get up at 6am. :(. That was a bad time, but now we all get better rest.

Watch the movie “Temple Grandin” to get another perspective as well. It opened our eyes a little. Hope this helps

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{ 6 comments… read them below or add one }

Rupali Wadhwani April 3, 2013 at 8:43 pm

Hi i would like to get your telephone no to get some more info, my daughter has been diagnosed with it.

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Sandy April 10, 2013 at 2:39 pm

Email sent to you Rupaili

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Sunny Kim October 8, 2013 at 4:00 pm

Hi. I’m Sunny Kim from South Korea. My daughter was diagnosed with rett syndrome, mutation in R294X. The mutation is rarer here in Korea, so I have never met a rett girl with R294X. I’d like to know how other girls with R294X are doing. Such as screaming and disturbed sleeping patterns you mentioned, if there are somethings in common, I’d like to know. My daughter likes to stand all the time but can’t walk independantly. Could you please share a little bit of Natalie’s story with me?

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Yunseo Mom October 31, 2013 at 12:23 am

안녕하세여 ? 혹시 저희 레트환우회 분인지 궁금해서여 . 요즘 저희애 식단을 짜느라 여기저기 검색하다가 우연히 보게 되세여 . R294X는 환우회애들중에 있는거 같은데 환우회분이 아니시라면
레트증후군 부모 모임이 있어요. 혈당의 롤링현상이 감정에도 영향을 미친다해요 . 저희 아이도 슈거프리 글루텐 프리 하고 잇어여 .. 반가운 맘에 몇자 적습니다 ..

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Sunny Kim January 8, 2014 at 1:08 am

지오맘이에여~ 이글쓸때만해도 민선이도 모르그 같은코드 찾아다녔네요. 글루텐프리가 어렵네요. 워낙 밥을 안먹어서요. ㅠ 비법좀 전수해주세염..ㅋㅋ소포오면 연락다시드릴께여

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Larry Sann April 10, 2014 at 4:23 am

how much creatine do you give your daughter?

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