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The Diagnosis- August 2020

Updated: Aug 19, 2021

After our quick visit at home were back in the hospital. As soon as getting comfy in our room; and I mean real comfy we came prepared this time.. Colby brought a mini tv and the xbox, our own pillows (very important) Axel's personal speaker for some jams etc.. we get bombarded by different doctor teams and testing. I am not complaining at this time I'm just happy people are moving their asses finally. He gets some lung and heart testing done, his genetics team comes to get more info, more blood to send off, and lots more questions answered about his timeline of events.

After all this testing came back he looked great but not having a diagnosis really concerned some doctors. As the G-tube surgery is a quick procedure they are just worried about his muscles kicking back into gear once getting off all the machines so they decide to hold off on surgery. Which was not what we wanted to hear because at this point Axel has figured out he can just rip out the NG tube whenever it was irritating him.. which was all the time.

So they're keeping us admitted until the genetic results come back, which lucky or unlucky for us was only a couple days later.

Sunday morning, August 30, the nurse asked if we’ll both be here at 10am.. of course yes we are because that's when the genetics doc is coming to talk to us. My heart sunk, my anxiety jumped thru the roof and I just wanted to vomit on everyone.

The genetics doctor and two of the pediatric doctors came in to talk to us and tell us they got the results back. He officially has a diagnosis called MLD Metachromatic Leukodystrophy. Me, still remaining composed not knowing what this is, the doctor carries on to share that it is a rare, genetic, progressive disorder that Colby and I both carry. She states Axel will lose all gross and fine motor, language and cognitive skills within the next few years. And there is no cure.

After that I blacked out, I have literally no idea what she said after that. I just sat there crying thinking this can't be right. It's not fair. I did everything the right way. How can this be happening to us?! He doesn't deserve this.

The doctor said we will talk again later when we are ready and she left.

We sat and cried for hours. No talking, we could hardly look at each other without just crying hysterically even more.

A few hours later we reached out to our families who were also awaiting the results, I found it difficult to even type the letters "MLD" without shaking uncontrollably. We had to share what it was, what was next to come and what to expect although we hardly knew ourselves.

All the while Axel has been SO easy on us the entire stay. He was being so snuggly and sweet and understanding? I'm not sure how he can understand any of this but he was just so PERFECT.

Shortly after receiving this news they were able to discharge us to the comfort of our home and families.

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