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.

Monday, May 6, 2013

Healing Her Bones. Rett Syndrome and Osteoporosis

So ever since we got the diagnosis of Rett Syndrome 7 years ago I have been obsessed  concerned with Annie's bones.  I knew a sweet girl when I was going through junior high school that had Rett Syndrome (yes, I know, God's foreshadowing is astounding).  I remember how beautiful she was, in her chair, coming down the hallway, always with a smile, she had beautiful  hair and always the cutest clothes.  But I also saw how fragile she was, how thin and how....... fragile.

I've talked about Annie's bones before.  We have had Annie on bone supplements since she was diagnosed.  We've known girls with Rett Syndrome who have broken bones just transferring from the wheelchair and I was so determined to not allow that to happen to my Annie.

When Annie was about 2 years old she started to have some pretty severe digestive issues.  We put her on a GFCF (gluten free, casein free) diet.  Hoping that it would help with her digestive issues and cause her to gain some weight but it didn't.  She was loosing weight and was so tiny to begin with.  We actually started seeing a GI specialist and told him that we needed a g-tube.  He, of course, agreed.  It was the best thing we ever did for sweet Annie, she began to grow and thrive and was so much healthier than we could have ever imagined.

After the G-tube we tried to introduce some dairy back into our sweet girls diet but we found that she was incredibly sensitive to it.  She was able to tolerate cheese and ice cream but anything beyond that, milk or yogurt, she would throw right up.

Of course I continued to worry about her bones and upped her bone supplements.  We had annual blood draws that showed us that Annie's vitamin D level was normal.  That was great but Mothers instinct, I wasn't convinced so I started asking for Dexa Scans - which are bone scans that can detect osteoporosis.  Yep - found it!  Annie failed her first Dexa Scan and was diagnosed with osteopenia when she was just 5 years old.

We were told that Annie had osteopenia because she couldn't walk.  We were told to get her up on her feet at much as we could, weight bearing exercises build bones.  I wasn't convinced that this was only reason for the fragile bones.  We get Annie onto her feet as much as we could each day, usually for several hours, and she was still having issues.  I knew that this was an issue with malabsorption.

I started doing more research but came up empty.  I couldn't find the reason for her bones to be so brittle and it was so frustrating.  As the years and months ticked by Annie's Vitamin D levels started to climb, so much so that we need to decrease her Vitamin D supplements.  As we decreased her supplements her vitamin D levels continued to climb and her bones continued to deteriorate at a very alarming rate.

I talked to every specialist that we were with and made appointments with additional specialists.  I couldn't figure this out and neither could they.  I was told by some specialists to ignore it, by other that they didn't know what to do and others who had ideas of putting Annie on medications that would increase bone density but they were contraindicated for children and the side effects were bad.

I knew in my heart that her problem was she was not absorbing these nutrients, we were giving her enough calcium and vitamin D and vitamin K and Boron and magnesium and all the other vitamins and minerals that are essential to bone growth she just wasn't absorbing them.

I continued to search and research until one day an article came into my inbox.  The bottom line – vitamin K is the ‘key’ that unlocks the door from your bloodstream to let calcium flow into your bones and bone marrow.*  ( Purely Godsent.  As I read through this article I learned that there were 3 forms of Vitamin K, K1, K2 and K3.  I was giving Annie vitamin K but not  K2!  So, we ended up taking her off all of her supplements, her blood levels were very high in vitamin D and her serum calcium was starting to rise so we had no choice.  We started Vitamin K2 (from right before Christmas and by March our Vitamin D levels had plummeted from 91 to 60!   The Vitamin D sitting in her blood stream was now able to enter her bones!

We waited another month and decided to do another Dexa Scan.  Our results - not a continued decrease in bone density, like we had seen in years past, and not even a same Z-score as the year before but actually an improvement in Annie's bone density!!  Yes, you read that right, an improvement!!!

This momma is overjoyed!  Since then we have started a Vitamin D supplement again and Annie's serum Vitamin D levels are still within normal limits which means that her sweet little body was starved for Vitamin D but it had no way of entering her bones without the Vitamin K2.  Now that we have the K2 we are able to supplement with additional vitamins and minerals and will hopefully continue to turn this osteoporosis around until we have bones that are as strong as the typical 8 year old that she deserves to be.  Annie's Spine and Femur's are still pretty brittle so we are VERY cautious about breaking her hip.  I'm hoping that these 2 areas of her body just need a little more time and nutrients to build up their strength.

*Disclaimer:  Vitamin K2 worked for Annie but it may not be for every Rett Girl or child with osteoporosis.  Please check with your child's doctor before starting any vitamins or supplements.

1 comment:

  1. You are such a strong mom. I admire your dedication and composure amidst your child's condition.