Grace for Rett » Grace's Life with Rett Syndrome

Plane tickets, genes and wheelchairs (in that order)

First of all, some AMAZING news! As you may know, I’m originally from Orlando Florida. We have been desperate to go home and my family haven’t even met Grace yet. So what do I do when we need something? I prayed! And then what happened? I WON a holiday TO ORLANDO! I don’t even know what else to say. I just laughed and laughed and laughed at the amazingness of God who cares about every little thing in our lives, even sending my kids to Disney. God knows that after 5 months we’ve had, we are utterly desperate for some good quality family time. We leave on 27th April and before then, God has to pull through one more time and get Grace a chair that will support her for 3 solid weeks of stroller time (more on that later).

Grace’s MRI results were normal. Her extreme hypotonia is just down to the way her Rett’s has affected her. And the bigger she gets, the more comical I look lugging her around with her arms and legs flapping about (but always with a smile on her face!).

Grace had her genetics consultation this week and we got some really cool news:

  • As we know, Grace has Rett Syndrome which is a mutation of the MECP2 gene.
  • Her particular MECP2 mutation happened at the front of the gene and is known as ‘R168x’
  • R168x is the second most common form of Rett Syndrome and it happens in 12% of the girls with RS.
  • There is a form of RS which is known to result in sudden unexplained death and Grace does NOT have that mutation (phew!)
  • The main area of concern for Grace will be her spine and preventing scoliosis which can restrict her heart and lungs. This is a common cause of death in adults with RS. Which brings me to my next topic…

Grace was fitted for her special chair last week and it brought tears to my eyes to see her so beautifully supported, instantly strengthened and enabled to sit more comfortably. It brought even more tears that they then took it away and said she probably won’t have hers until June 🙁 The purpose of the chair is to begin a regimin of posture management where we are consistantly ensuring that Grace is supported and kept straight in everything she does to prevent the scoliosis. The chair is an amazing start, but she needs to be kept straight so much more than when she’s eating. It’s nearly summer and so we’ll be out of the house more than we’re in and this means Grace slumping over in her regular stroller which isn’t good for her by any means.

The NHS doesn’t supply wheelchairs to children until they’re 3 and that’s far too long to make Grace wait to receive support and comfort. For her, it isn’t an issue of mobility but of support. It’s not that she can’t walk but that she can’t even sit up that poses a problem for her the bigger she gets.

So, I went on a search for a wheeled, mobile version of the chair she’s getting in June and found something called the Otto Bock Kimba Spring which is a stroller for special needs babies who aren’t big enough for conventional wheel chairs. It’s got all the support of the chair we tried in a stroller version. I found a supplier in this area who will come at the end of the month to fit her for her chair although I haven’t figured out yet how we’re going to pay for it. I expected it to be expensive after learning that the chair she’s getting in June costs £1,500. But I wasn’t really prepared to find that the wheelchair costs nearly £3,000!

The man I spoke to one the phone (who will come fit her for the chair on the 31st) was so so lovely and he said that he knew of some charities who he will visit and ask for help for us to buy her wheelchair. He was truly a saint (he called her ‘Little Grace’ how sweet:) and he talked to me about the ways in which I could try to get my hands on the funds for her wheelchair through the charities route. So I’ve written to the ones that I know of and and just kind of putting it in God’s hands because he always comes through for us and our needs. And, afterall, Grace belongs to Him so I don’t need to worry about how this will happen!

Kelly Butler - March 21, 2010 - 7:46 pm

My Brooklyn is a R168X too 🙂 Your Grace is just so adorable! Hugs to you both!

elizabethhalford - March 21, 2010 - 8:05 pm

Oh wow what do you know about it? I said to the doctor “so is that ‘good rett’s’?” ….blank stare….

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