This blog is dedicated to differently-abled children, particularly those diagnosed with a radial ray defect, hematological issues, Failure to Thrive, developmental delays, microcephaly, cerebellar dysgenesis or cerebral palsy.

Sunday, February 22, 2009

Emma has her Rifton walker!!

We did buy a used Rifton walker a while back but it turned out to be much too big for her. Well, she'll grow into it eventually. This walker is on loan from California Children's Services.

Here's her first attempt at using the walker at home....she's only allowed to be in it 10 - 15 minutes at a time, but she can use it several times per day. It's adjusted so that it discourages her from sitting down on the support beneath her, which makes her tire very quickly.

As you can see, she LOVES it! She was so mad last night when we put her in it for the last time before bed and then took her out after only 15 minutes. She yelled "I wanna go in the walker!!" over and over until we reminded her that she was going to wake up Matthew if she didn't stop it.

I'm so glad that she finally has a walker that fits her, not just that baby walker which is way too small!!

Wednesday, February 18, 2009

Emma napping with her baby doll

Update on Emma

We took Emma to see her pediatrician yesterday. She's 81 cm long now, but only 9.25 kg. (That means she's 32 inches long and weighs 20.4 lbs)

The doctor was disappointed in her weight....she's not gaining weight, even though she's growing in length, so her BMI is actually decreasing. We talked about ways to increase her calorie intake (adding small amounts of oil to her baby food, giving her high fat foods like avocados and fritos). I told the doctor about the gluten free diet, that Emma has only been on it for 6 weeks but her eczema has cleared up completely! We had hoped that the gf diet would help her gain weight, but it hasn't been long enough yet.

The doctor did talk about the possibility of a g-tube, which scares me. I'm praying that Emma will start eating better....that a g-tube will not be necessary. She's very picky about food, about textures, and she's never been a good eater. This is apparently normal for kids with Emma's medical problems, though. One little boy that I know about who has GLHS and a missing radius bone in his right arm has SO many of Emma's characteristics. And he has a g-tube.

But I have to trust in the Lord, that He is in control. Emma is doing well in so many ways, and I'm grateful for that!

Wednesday, February 4, 2009

Prayer request for Baby Matthew

There is a beautiful baby boy named Matthew who is only a few weeks old. He was diagnosed soon after birth with a very serious medical condition called hydranencephaly. This condition is terminal and the doctors at first gave his guardians the prognosis that he would likely only live a few months.

But there has recently been some indication that Matthew may be treatable, and that in the best case scenario, he might even be able to have a normal life after surgery. This momentary ray of hope has now faded a bit, because the results of a cat scan were inconclusive. You can see Matthew and read more at his blogsite, Gift of God.

Please pray for the Lord to work in Matthew's life, and touch him with His healing power. Pray for God's will in his life. Pray that the Lord will anoint his doctors with wisdom. Pray for the precious Christian family who is caring for him as if he were their very own.

Monday, February 2, 2009

Gomez-Lopez-Hernandez Syndrome...maybe not so rare?

I've read many of the recent medical journal articles about GLHS, and as of February 2008 there were apparently only 19 people world-wide who had been diagnosed with this syndrome.

And Emma is almost certainly #20. So here I've been thinking that she is SO incredibly unusual in that she has both TAR Syndrome and GLHS.

Then I joined the Yahoo Group for parents of children with cerebellar issues.

I discovered within a few weeks that there are at least 2 other children whose parents/guardians are members of that group who also have GLHS. I also received an email recently from the mother of another Emma who probably has GLHS.

But the really interesting part is that, out of these 4 children that I know about (my Emma, the other Emma, plus the two kids through the Yahoo group), TWO of them have both GLHS and at least one missing radius bone (my Emma is one of them, obviously).

So I'm convinced that (1) there is a fundamental genetic connection between TAR Syndrome/radial ray defects and GLHS that has not yet been noticed by the medical research community, and (2) GLHS may not be nearly as rare as previously thought.