It’s official!

Posted by Melissa | Filed under Home Life, Updates

After speaking with 5 doctors who are leading experts on GD type 2 and 3, we’ve decided not to go ahead with the transplant.

It sucks that now there’s isn’t any hope of a miracle cure like we were led to believe a transplant could be. But apparently they’ve never seen anyone with the 2 mutations that Kyle has, so they didn’t really know how having the transplant would go in his case. And I just found out that Kyle’s doctor had two type 3 patients who underwent the transplant, and neither of them had their neuro problems stopped…and she couldn’t have told us this months ago?

I have anger over how the doctors handled this. Everything should have been laid on the table from the very beginning instead of stringing us along on “hope” that is non-existant. If they had of told us back in April that roughly 24 gaucher patients with type 3 have had transplants, but not a single one of them had their neuro issues halted – it wouldn’t have even been an option. Why put a child through something like that if the outcome is going to be the same as getting bi-weekly Cerezyme treatment?

So what next?

Because Kyle is going to need bi-weekly treatments for the rest of his life, and it’s an hour and 15 minute drive one way to take him to the hospital, I asked about getting his treatments moved to Sarnia. And the good news is that they are currently looking for a pediatric nurse to come to our house to give Kyle his treatments, and it won’t cost us anything.

On the other hand, if they can’t find a pediatric nurse, Kyle may have to have a portacath put in. Kyle has awesome veins in his hands, and they slip the IV in one quick shot each and every time, so getting a portacath isn’t necessary. But if they can’t find a nurse who is used to working with children, she may not be able to do the IV – so a portacath it will be (it’s basically an access they put in his chest so they plug the line in there, and will have to be done surgically).

So I’m praying we’ll get someone who is comfortable doing the IV’s, at least for the time being.

Then we’ve got a day set up to get his OT and PT assessment, since it was put on hold with a pending transplant, so hopefully we can get him rolling with that through Pathways. I also discovered that Pathways has what they call respite services. Here’s what their website says:

“Respite Services – This program is primarily geared to infants birth – 2 years of age. The worker provides the primary caregiver relief once a week for a 4 hour time span. The special needs child and siblings in the home during this time become the responsibility of the worker.

So I’m going to look into that as well. Because I tell you, sometimes I am exhausted. It’s not easy having a 14 month old child who is more like a 6 month old – they can’t quite do anything. Though Kyle is pulling himself into a full hands and knees position on the floor. Right now he pulls the knee up and pushes with his foot and pulls with his arms to get where he wants to go. So he does make his way around.

But still, he’s like a baby who’s not growing up. He should be running all over the place, playing on the grass with his brother and sister, or toddling through the house in footie jammies. Instead, at 14 months old he’s still stuck in his exersaucer watching everyone else have fun. It’s incredibly heart-breaking, but I’m determined to get him going.

They have no idea how someone with Kyle’s mutations will progress, so for all they know, he could live well into adulthood – they can’t tell me otherwise. So we’ll just take it day by day and keep praying that he gets his miracle.

Permalink | Comments (6) | Aug 25, 2009

6 Responses to “It’s official!”

  1. Tishia Lee Says:
    August 27th, 2009 at 1:40 am

    I’ll be praying that God opens the door for a pediatric nurse to come to your house.

    Tishia Lee’s last blog post..Just Got Sad News From My Dad

  2. Cristina Says:
    August 27th, 2009 at 11:57 pm

    “He’s like a baby who’s not growing up.” I know what you mean. I am to the point where I am about to start lying about Bertrand’s age. (He is 21 mo. but acts 4-6 mo.)

    6 months or 14 months, Kyle looks so happy and adorable!

    Cristina’s last blog post..Cortical Modularity and Autism

  3. Melissa Ingold Says:
    August 28th, 2009 at 8:53 am

    My thinking exactly Cristina! Shortly after Kyle turned one, we were at the park and I was putting him in the baby swing there and a grandfather came over to help…he asked how old Kyle was and I ignored him…rude? Yes, but I didn’t want to deal with weird looks and questions.

    I’m not sure what’s going to start popping out of my mouth when people ask how old he is. The only reason they probably ask is because he looks like no 14-month old they’ve ever seen.

    The time before last that we were at the hospital for treatment, an older lady was pushing an even older woman in a wheel chair and they got on the elevator with me. She asked how old my baby was, I said 1, and holy cow…she did that taken aback look, gave her head a little shake, and said, “1? He’s 1? in absolute disbelief. Then she asked if his arm was broken because when he has his IV they put a little board under his hand and part of his arm, and then wrap it all up in in gauzy material so he doesn’t play with it. Anyway, I said no he’s getting medication, and off they went.

    I mean what am I supposed to say – he doesn’t look his age because his growth and development have been delayed by a very rare and fatal disease that is slowing killing him? The effects of the disease just aren’t visible except in his delayed growth and development.

    It’s frustrating and heartbreaking all at the same time because it makes you remember, oh ya, there really is someting wrong with him :-(

  4. Carrie Says:
    August 30th, 2009 at 12:15 am

    I know exactly how you both feel. Hannah is still in the 6 to 8 month old range for most things, and it is starting to really show at this point. Melissa, I could have written your post, word for word — and Christina, well, you know how I feel my friend :)

    Carrie’s last blog post..The infamous list

  5. Stuck in a time warp | Little Miss Hannah Says:
    August 30th, 2009 at 8:15 am

    [...] was reading Melissa’s latest post about Kyle, a little boy with Hannah’s disease who is just a month older than [...]

  6. Cindy Burns Says:
    September 10th, 2009 at 5:37 pm

    My prayers are with Kyle,you and all of your loved ones.

    My daughter, now 30, has developmental delays and looks about 13. While life has been challenging, we are blessed with abilities that shadow her disabilities in my eyes. For a several years we didn’t know if her condition would be life-shortening as well as life-altering. Again – we are blessed in that her lifespan is as unpredicatable as anyone elses…with no reason or diagnosis to carry into the next day.

    Alison did not develop speech patterns in her first year…no babbling or mimicking. At 13 months I heard an “oompapamowmow…” and something that sounded like Elvira come from a little girl propped up in a sitting position in her play pen. Al couldn’t sit up anymore than she could crawl. Of course, she never attempted to…it was as if she didn’t have a clue that that was what babies do.

    I won’t go on…I will just say that God brings unexpected lessons and joys to us. Do I wish she had a ‘normal’ life? Yes – I do. Would I change her for my own wishes? Nope – she wouldn’t be Alison if I did that. She is happy and a pretty cool kid. (yeah, she will ALWAYS be my kid – at ANY age – for Pete’s sake -I’M A MOM! My prayers are with you.

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