Tag Archives: Sanford Burnham Medical Research Institute

Discovering CDG SLC35A2: A Parents Perspective

5 Jul


Even though it’s been a few months since we were first told  that Ladybug has CDG SLC35A2 I still find myself in awe of it all. In my previous post I mentioned there was more to it that I wasn’t ready to talk about. From the initial diagnosis we were told that CDG was a genetic disorder and that Ladybugs father and myself were carriers. Makes sense! With CDG there is a 1 in 4 chance that a subsequent child will also have CDG. I was heartbroken. For as long as I could remember I wanted at least 2-3 children. I’m not the gambling type and was far too worried about putting another child through the pain that Ladybug had been through, so we decided she would be our only child. It was always so difficult to hear of others around me becoming pregnant because it was a constant reminder of what I would never be able to experience again. I desperately wanted to be able to enjoy a worry free pregnancy like those around me, and this would often bring me to tears. Now 1.5 years later I had come to accept this and we began the long process to become foster parents.

CDG SLC35A2 is caused by spontaneous somatic mosaic mutations in the X-linked gene. I’ll break it down for everyone.

Spontaneous or “de novo” – a genetic mutation that neither parent possessed nor transmitted.

Somatic – ‘of the body’ Post fertilization.
Mosaic – Two different types of cells – For the boys 1X chromosome and 1Y (flashback to biology class). In their X-chromosome, there are normal cells and CDG SLC35A2 cells – With Ladybug having 2X chromosomes 1 has the mutation and 1 doesn’t.

“But sometimes that normal X is randomly inactivated. This is called X-linked inactivation and all females have this. It’s mother natures way of making sure males and females only have 1 active X-chromosome.” Bobby Ng Sanford-Burnham

X-linked Gene – The Gene is on the X- chromosome.

The most significant finding of Ladybugs diagnosis in my point of view, is what Bobby (one of our CDG superheros) from Sanford-Burnham Medical Research Institute told us:

“We have confirmed that all parents and unaffected siblings do not contain mutations.”

I think I have read and re-read this one sentence dozens upon dozens of times and even now it hasn’t quite sunk in. For the past year and a half, I fought through tears and heartache while I came to terms with not having another child. Then BAM!!!!!! Just like that everything was different. In that first 24 hours my thoughts went from oh my gosh let’s have another baby, to – this spontaneous somatic mosaic mutation happened once what if it happens again?

I have many dear friends who are fighting with infertility and aren’t able to have children. The dichotomy of it all is that there are moments I feel like it’s trivial to be so upset about this. I should be happy I was able to have at least one child and leave it like that. Right?!?!?

To be honest, because it’s a new discovery there are still so many unknowns and the whole thought of trying for a second baby scares the bejeebers out of me.  Not only because of the risk of more miscarriages, but there is also a chance that Ladybug’s CDG may have been caused by a germ line mosaicism – when either the egg or the sperm have the mutation.(Not good) As opposed to a somatic – Post fertilization. (A little better) It’s hard to know for sure unless we spend tens of thousands of dollars on having this tested or take a leap of faith and try again.

For now I’ll leave everything in the hands of the universe, and be thankful everyday that I have my beautiful little Ladybug.
Halloween 2010 Mac Kids ICU

Sweet Little Angels

13 Mar

Have you ever had the feeling when your heart sinks, your skin goes clammy, every sound around you disappears and those one or two brief seconds slow down to feel like eternity?

For me this is exactly what happens when I learn that a child with CDG has become a sweet little angel.

This past February alone 3 wee ones from our CDG family passed away.

As much as I try to always be positive and think on the bright side I can’t help but think….. I don’t even want to bring myself to write it.

Once the shock and feeling of the news being too close to home begins to subside – a feeling of guilt closely follows.  How could I possibly write about how my ladybug now has 7 teeth or that she can roll from her tummy to her back, or she has tracked a toy for the first time in her life, knowing that another mother whose child had the same disorder will never get to experience this again.

I couldn’t and don’t ever want to imagine what it’s like to have to lose my baby. Because CDG is so uncertain that teeny little thought always seems to be in the back of my mind.  I try to hide it in the furthest corner under all my happy memories but when a little one with CDG passes, that teeny little thought manages to push its way through.

The only thing that sends it back is holding my baby girl, listening to her contagious giggle and knowing that all those who have passed are no longer suffering and are now playing hand in hand, while looking over my ladybug and every other child with CDG.

I thank the heavens every day that I have my daughter, and encourage every parent to hold their own little miracles a little closer and enjoy every precious second as I do.