Scott and Bridget met in 1993 and were married in 2001. In September of 2003 we welcomed our first miracle, James. 16 months later we brought home our second miracle, Annie. And in October of 2006 our family was complete with miracle #3, Gracie. Rett syndrome entered our lives when Annie was diagnosed on May 19, 2006. This is the life of the MacDonald family as we juggle 3 small children and battle Rett Syndrome until Gods perfect time when we are cured.

Tuesday, August 9, 2011

Whats keeping me up at night these days....

Any special parent knows that there is a huge, enormous, never ending list of things that we have to worry about with our very special little ones.  And I'm not talking the everyday, every parent kind of worry like "Will my son go to college?"  "Will my daughter stay away from drugs?"  "Will my kids stay safe while they are out with friends?".  We have worries that are much more immediate like "Is my daughter being educated in school"?  "Will my child ever walk?", and "Dear God will she still be breathing when I wake up in the morning?!".  Many of our kiddos have difficulty sleeping at night, I don't think this is by accident, I believe God did that for the sole purpose of making us parents exhausted enough to shut our brains off and get some sleep at night - if only for a couple of short hours.  Of course there are the rare occasions that our kiddos sleep consistently and with that new found rest our brains are recharged and able to worry again - enough to wake us up out of our precious sleep.

That is exactly what is happening now and the worry that is keeping me up is Annie's bones.  The typical parent might not understand but the special one knows, when a child does not walk or run or jump or play their bones feel it.  We all need weight bearing exercise to keep our bones healthy and that exercise is incredibly difficult with a child who is non-ambulatory.  Of course there are standers and walkers and therapy but there is no way you could even come close to the time a typical child is up and moving no matter how dedicated the parent.

Another piece to the bone puzzle is diet.  Annie should be getting about 1,000 mg. of Calcium per day, it should be pretty easy right?  Well, not so much.  Annie's tolerance to dairy is "iffy" at best.  At one point in time Annie was able to tolerate raw (non-pasteurized) milk which was awesome because in my opinion that is the best way to get calcium - it's surrounded by many other nutrients and is very easily absorbed.  But then she stopped tolerating it.  Of course there are other, less ideal options for "milk" - almond milk, soy milk, rice milk but, I don't agree with anything soy and Annie aspirates on thin liquids.  What about through the tube?  Yep, we do give Annie Hemp milk through her g-tube, but she isn't able to tolerate much bolusing through the tube, its tough on her delicate GI system.  Yogurt has always been intolerable for Annie, feed it to her and she just gags it back up.  Ok then, cheese - yes, she'll eat it, tolerate it, but it's a very special meal if you can get more than about 1/4 of an ounce into her.  I could go on and on about diet and the calcium rich foods - spinach - gives painful gas, almonds - great but she can only crunch, bolus and swallow a few of them - we have tried it all and come up short every time.  Believe me, as a dietitian it KILLS me not to be able to keep this child thriving with just food!

Annie has been on bone supplements since she was about 18 months old.  Thinking back Annie's bones and heart have always been a source of extreme anxiety for me - I have no control over her heart but darn it I was going to make sure her bones stayed strong.  This has proved to be a most difficult task.  Our bone suppelement is wonderful, it includes all of the essential ingredients to build bones - magnesium, boron, calcium, vit. D and K, yada yada.  Of course there is a balancing act to using supplements (especially with children) too little calcium in your diet can lead to bones breaking down to keep serum calcium levels normal but too much calcium can cause all sorts of issues including death.  We make sure to keep the balance at optimal levels, I tend to obsess over the numbers, calculating her night formula, her bone supplement, the hemp milk and whatever calcium rich foods I can I sneak into her during the day.  Another consideration is the type of calcium that is in the supplement is it calcium carbonate, citrate, gluconate, phosphate?  Calcium carbonate can interfere with the pH balance of your stomach (think tums).  And of course we have made sure that our supplement is from a reputable company since all supplements are not followed by the FDA.

Even with all of this careful calculating and supplementing we are still faced with osteopenia.  Annie has recently had a bone scan and we have found that her bones are thin in areas.  The news was quite a slam although not shocking.  We have been doing everything humanly possible, what's going on?  Oh, Rett Syndrome is.  I found this pubmed article that pretty much tells it like it is - girls with Rett Sydrome have low bone mineral content and what's more is that girls with R168X and T158M are at even higher risk for this.  Well, whadaya know, Annie's mutation is R168X.  You would think after reading this I would have thrown in the towel, it's Rett Syndrome, nothing we can do.  Oh no, you see when someone tells you something negative about your special kiddo "she'll never walk" "she'll never talk" "her bones will get worse and fractures will start" it only makes you work, think and challenge all the more.  You special parents know what I mean.  It's just a matter of thinking outside of the box to find something else that may help this bone situation - I'll keep you all posted if I come up with anything and Please, if you have any suggestions leave me a comment!

PS. I concentrated on calcium for simplicity's sake in this post but the truth is that there are many vitamins and minerals that contribute to bone growth, calcium alone will not do it.

1 comment:

  1. You all are in my prayers. I think of sweet Annie, and your whole family all the time. Thank you for touching on the lack of sleep because at 3am in the morning, I think that we are the only ones up at that time (without a newborn). Please know that you all are in our prayers, and we us parents will get through this.