1st Baby - Rough Road - Special Needs Mom of Rare Condition

KellyScott04 · October 2014

Good afternoon -

I never thought in a million years I would be posting to a special needs board. I mean no offense by saying that as I am the mother to a beautiful baby boy, our first, named Liam. I remember being so nervous when I found out we were pregnant and instantly concerned about the baby's health. I read up on it all and did everything "right" while pregnant. I recall being nervous about the Down Syndrome test (which came back just fine) then how hearts sank when we were told that I was a carrier of CF which I didn't even know was part of the testing. All nerves were calmed when it came back that my husband was not a carrier of CF.

From that point on it was a fairly typical and pretty easy pregnancy. I had no complaints and all the initial concerns faded.

Then our boy was born. He was SOOOO little weighing just a wee bit over 6 lbs. I was NOT prepared for just how little that truly is. But, after we got him home and settled into our role as a first time mommy and daddy, all the fears of young parenthood subsided and we got a routine down that worked for our little family.

That is when it happened, our whole world came crashing down, or so it seemed. He was born Aug 6 of last year and at the end of his 1st month with us we realized something wasn't right with his eyes; there was a faint cloudiness in each pupil which we were later told were cataracts. He immediately had surgery in both eyes on separate occasions to remove the cataracts. Overall, everything went pretty smooth but then glaucoma set it which also required surgery to correct. FINALLY, by December of that year the world around us seemed to stop spinning and we were able catch our breath and enjoy our little family.....which didn't last long.

In March, after a lot of research as to what caused the cataracts, we were delivered news that would change our lives forever. Our son was diagnosed with a rare disorder known as Lowe Syndrome. This disorder almost always occurs in boys as it attacks the x chromosome (females have a 2nd x chromosome that counteracts the affects from the defected x chromosome). The disorder distresses the kidneys, eyes (cataracts) and brain. Which means, we will constantly have to monitor his kidney health, and there will be some mental delay but what or how much, we have no idea and won't know until he's a bit older. The eyes we have of course already tackled and he's doing great with his vision. We have a team of amazing and doctors and developmental specialists which eases my mind but my days of sanity are long gone. I never knew a sadness like this that causes me to worry so much that I become physical sick. On the upside, our little Liam is SUCH an enormous miracle and I love him like I have never known love before. I'd give up everything and anything for his health and happiness.

And finally, my question: Does it ever get better?

I find myself peaceful some days but other days I want to run to an empty field and scream and cry at the top of my lungs. It has changed me so much. I can't even find the words to describe how I feel on most days but it's an emotion I never knew before Liam. Yet, I don't regret a thing nor do I wish for a different life. I guess I'm just grasping at straws or hoping maybe someone on here has some words of wisdom they can offer who have more years under their belt than myself as a special needs parent.

Thanks in advance, from the bottom of my heart...

KellyScott04 · October 2014

We are right on the same timeline as you....we are 6 months post diagnosis. I am still grieving and yes, I do feel bad at times but common sense tells me not to feel bad. I try to look towards the positives and love I have for him but the fears of what the future holds for us always seems to creep back in and I find myself slipping into a pretty dark depression.

Thank you for your kind words! It does help. I know it's healthy to reach out to others which is what I'm trying to push myself to do.

KellyScott04 · October 2014

Thank you.

thefuturemrskudla · October 2014

I just wanted to give a quick reply (I am on my phone), to tell you it DOES get better. I could have written your post 5 years ago when my son was born, with "multiple anomalies" that were completely unexpected.

KellyScott04 · October 2014

You know the hardest part aside from the obvious daily concerns for his health and over all well being that I struggle with? It's the stares because of his glasses or when I'm with a group of moms that have "typical" children and they begin talking about all the milestones their little ones are accomplishing and then they turn and to me and ask in a different, empathetic tone "How's your boy doing?"

It's hard. I need to grow some thicker skin because right now, I just don't know how to deal with stuff like that.

I do hope it gets better....

ToastieSimons · October 2014

it gets better.

We're 4 years out from diagnosis of DS1. He was born with special needs that we never expected.

We're 2 years out from diagnosis of DS2. He was born with special needs that we knew were a possiblity but unexpected.

Both of my boys mutation is on their x-chromosome also. I am a carrier for it.

My advice...fake it till you make it. Eventually, it becomes normal and okay. You're still going to have your down days, I still do when I think of their future sometimes, or when we are in a place where it's some huge thing that I'll never get with them. But 99% of the time i look at them and see joy, love, and happiness. And pure perfection. They are exactly who they were intended to be, they were never anyone else, even from the start. This is their DNA. This wasn't a birth injury or a diagnosis that came later. I've never known any other children but them. And Im the one who has to learn to change their expectations.

macchiatto · October 2014

Welcome to the board. I hope you can find a good support system, IRL, too. This board is a great source of support as well.

jackieweldon · October 2014

Hugs. It hard, especially at first. Our daughter has Down syndrome and its our new normal. Give yourself permission to take one day at a time!

KellyScott04 · October 2014

Thanks all for the kind words of encouragement. Means a lot.

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