Kyle’s Story

Posted by Melissa

Kyle’s story began when he was just 3-1/2 months old.

He was born June 27th, 2008 after just 3 hours and 40 minutes of labor. He was a perfect, healthy, and content little boy. An easy baby to please and a joy to be around.

He was an unplanned surprise of sorts. We already had 2 children (7 and 4) and weren’t planning on having anymore. But I was sick with the flu that was going around and so my birth control wasn’t taken regularly the way it was supposed to be, and I got pregnant.

He was born just 2 days after we moved into our new home, so the next 3 months flew by as we settled in.

I didn’t notice anything unusual about Kyle, but my sister-in-law thought his tummy was a little bigger than it should have been. So I decided to mention it to my family doctor at Kyle’s next check-up. He thought it might just be fluid from his neo-natal jaundice (but apparently he thought worse but didn’t want to say anything to me), so he referred me to a pediatrician.

I took Kyle to his appointment with the pediatrician around the 6th or 7th of October 2008, not really concerned that there was anything serious going on. So I was shocked beyond belief when he told me it was serious, his spleen was massive and his liver enlarged, and that it may be cancer. He immediately made arrangements for us to go to the hospital for a CT scan the next day to find out what was going on.

A couple of hours after we arrived home from his CT scan, the pediatrician called to say his spleen and liver are enlarged and that we needed to go to Children’s hospital. He called there and we were to admit Kyle the next day.

What followed was 2 weeks in the hospital as Kyle was subjected to test after test. Blood work, urine samples, x-rays, ultra sound, skin biopsy and more. The result? We still didn’t know what was wrong with him. They ruled out cancer and said that it might be a metabolic issue that could be dealt with through a special diet.

They sent us home and told us that we would be contacted by various doctors for follow-up. Well, 4-1/2 months went by without a word from anyone. Then finally, in mid-January 2009 we got a call from a metabolic/genetics doctor and an appointment was set up for yet another month later.

2 days before that appointment her office called and said that we needed to be there an hour before the appointment time so they could do a skin biopsy. I said but they already did one. Her response, “It didn’t take.” So it took 4-1/2 months for someone to realize that his skin biopsy didn’t take and that he needed another one done.

2 weeks after that appointment, we were told that Kyle has Gaucher Disease and they think it’s type 3 because of the way Kyle uses his eyes. Our world dropped out from under us.

Type 3 is progressive and fatal.

We were told he would die without enzyme replacement therapy (ERT).

With it, he may live until he’s 10 but because type 3 means that his brain is involved in the disease, his development would slow down and eventually stop altogether.

Our only hope – a bone marrow/cord blood transplant. They told us there is a 20% chance that he will die from the transplant, and an 80% chance that it will be a success. They said they couldn’t tell us whether or not it would stop the neurologic effects of the disease.

However, they did say that a 9-year old girl who was diagnosed with type 3 Gaucher Disease when she was a year old, underwent a bone marrow transplant when she was 9 after showing signs of neurologic effects. She’s now 18 years old.

We decided to go ahead with the transplant – what choice do we have?

*UPDATE: We decided NOT to do the transplant. Read about our decision.

Permalink | Comments (6) | Apr 16, 2009

6 Responses to “Kyle’s Story”

  1. Nell@SheSnaps.com Says:
    April 29th, 2009 at 3:16 am

    Oh my Gosh, Melissa, I’m in shock and pain and sorrow and shock…I’m so very, deeply sorry for you. Oh, what you’re feeling now, facing, that poor little guy. My heart aches for you…I’m so…sorry. I’m praying. Hard. And will every night. I’m praying for a miracle…God has those, and I’m praying. If you need me, I’m here. Always.

    Nell

  2. Melissa Says:
    April 29th, 2009 at 7:36 pm

    Thank-you so much Nell, your prayers mean a lot!

  3. Tishia Lee Says:
    May 1st, 2009 at 6:34 pm

    Melissa I can’t even begin to imagine the pain you must be feeling. I know words can’t even begin to touch that pain but I just wanted to say that I’m so very sorry and that I’m praying for your little guy as well as you and the rest of your family.

    Tishia Lee’s last blog post..Dating And Doing What Was Right For Me

  4. CFMama Says:
    May 14th, 2009 at 11:28 am

    Found a link to this website two comments above me on MckMama’s site. I wanted to let you know that Kyle will be in my prayers! What an adorable little boy!!!

    CFMama’s last blog post..my mountains and valleys

  5. Diana Walker Says:
    May 26th, 2009 at 10:41 pm

    Oh, Melissa – what a beautiful, beautiful boy! (angel is right!) My thoughts and prayers are with you — and I just know that with all your focus and energy and positive support, miracles are possible.
    Diana

    Diana Walker’s last blog post..Raw Food Health Benefits, Juicing, Smoothies

  6. Darina Says:
    May 27th, 2009 at 5:38 am

    Melissa

    I had no idea.. I’m so sorry. He’s a beautiful boy and he’s so lucky to have you as his parents and fighting for him.

    xxx

    darina

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