Kayla's Story

Part I

Kayla Wheeler - Transplanted August 6, 2000 - Photo 8 months Post TX

The first indication we had that something was wrong with Kayla was in August 1999 (she was 26 months old). She started spitting out meat we offered her and routinely threw up. I had just weaned her from breastfeeding because I was pregnant and she had never really been sick till then. My family who had wondered if I would ever stop breastfeeding started to wonder if maybe I could start it back up.

From Aug to Nov the pediatricians were the "picture perfect" not-aware-about-UCDs docs. They insisted she had stomach viruses and I insisted otherwise. I lost faith in their capability.

I took her to a pediatric gastrointologist who I to this day credit for saving her life because he had the sense to see that I was truly concerned and he believed that I was a mother with good instincts.

In previous months she had developed a tremor in her hands when she would try things in which required fine dexterity and concentration.

Anyway, the pediatric gastrointologist's first instinct was that she had gastroparesis (paralysis of the stomach) so he gave us a prescription for propulsid. Propulsid seemed to make her vomit even more so he scheduled her for an upper endoscopy. The day of the endoscopy was the day our world first came crashing down.

They had to sedate her of course for that procedure. While they were in her looking around he spent about 20 minutes in her stomach and saw absolutely no activity. He then explored the intestine and saw the same thing - no activity.

He decided he would admit her for an MRI because of the tremors. He thought maybe it was a neurological problem. Well we waited and waited and waited that day for her to wake up. . .we were the first ones seen at 7:30 that morning. All day I had witnessed patients going in for the same procedure and waking up within the normal 20 minutes after it and leaving in about a half hour but my girl didn't even stir for the entire day. Finally at about 4pm they roused her and we moved her into the hospital room. We began Regulan to calm the stomach via IV and she soon started really trembling. It eventually subsided down to mild shaking. In the meantime they must of taken 30 or so vials of blood - and did the MRI in which they again sedated her and she took forever to wake up. They came back with no real explanation and said they had seen a little questionable gray matter in the brain but didn't feel it was to blame.

With no apparent reason to keep us past the three days they said they were going to release us and see what would come back from the blood tests.

They had already written our discharge and I was at the elevators with her when they came running after us telling us to hold up - that one of their tests came back way out of limits and they would need to repeat it. When they told me it was "an ` level" boy was I horrified. How does one get ammonia unless given it??? was my thought. Talk about fear. . .guess I watch too much TV because I had no idea what was going through their minds.

Everything was being done stat and yet no one took the time to explain to me what in the world was going on. They just kept saying the first ammonia test had to be wrong because she was still conscious and alert but the second one came back even higher. It ended up the first ammonia level was 246 and the second was 299 (normal ammonia level is around 35). Then it was explained they didn't have any reason for it but they needed to do a spinal tap to check the fluid because this ammonia would travel straight to the brain and eventually cause death if they couldn't get it under control.

THAT WAS the way her diagnosis was explained to me and it was before my eyes she was getting worse. . .with the throwing up and the shaking. . .and all I could think is it is all going to be over before they even know what is wrong.

Three long days passed with me standing vigil by her bedside in tears and histerics before the Genetics team paid us a visit and said they had an idea that it could be a UCD but they didn't know which one and they wanted to do a liver biopsy. At this point I was at the point of "do whatever it takes" but did insist they place a central line for she had given so much blood the nurses had started to look at her head for possible veins. Also, the stress placed on her everytime one of them walked in was past ridiculous.

After the biopsy was done and it was determined she must have a UCD. They still couldn't definitively state for sure which one but they were going to treat it as OTC and do further testing and observe the treatment.

We were taught the protein guide in which she was allowed almost zero amount, given the medicines and told to bring her back if she didn't appear right.

So after going in for a simple endoscopy procedure 14 days later we were leaving the hospital with a child whose life was to never be the same again but we were happy to just have her alive.

It is ironic to recall now, but when they first explained it was a liver problem I spoke up and immediately asked, "So can we get her a new one?"

At that stage they wanted to try managing her care with medicine and said transplant really wasn't a route for us to consider.

Well, imagine my surprise when (fast forward past multiple hospital stays) 6 months later while in the hospital we were approached with the option of transplant. We started screening immediately. . .we didn't think it could get done soon enough for us but as you know miracles do happen.

Every doctor that has treated her has indicated that Kayla is so not a textbook case. Even the Genetics team wrote a soon-to-be released report on her and the undisciplinary approach to her treatment soon to be published in the Pediatric Journal.

You want to now the truth of it|? Everyone says how we are at one of the finest hospitals and have a wonderful Genetics team. I do not in anyway doubt that. But, I still can't fathom that at a facility in which so many travel to to be treated at. . . why it took such an ordeal to diagnose her. It is truly scary to contemplate that if I had not been near a big city and had took Kayla to a community hospital where things would have gone.

I do hope that early detection in newborn screening becomes a reality sooner than later but it really can't stop there because I don't think Kayla would have been picked up through initial screening.

The re-education of pediatricians and family doctors is a definite need.

It's sad but true. . .Kayla really hasn't had too many easy hospital stays. Through her ordeals I have really had to find strength and hope when I didn't think I could.

I plan to update this story with the difficult sequence of events that has followed Kayla's transplant at a later date.

Thanks for allowing me to share Kayla's story with you!

Kayla's Mom

JoEtta

The Wheeler Family

David 8, Harley 6, Kayla 3, Sheldon 10 months, Ryan & JoEtta

*Kayla* - 1 week Prior to the Transplant

Here is a picture of the Chicken Pox scare Kayla’s mom JoEtta has wrote about: