Thursday, May 8, 2008

Katy and her late PKU diagnosis

My name is Michelle and I have a daughter who was diagnosed with PKU at thirteen months of age. We are missionaries in Mexico which is where my daughter, Katy, was born. PKU screenings were not standardized in the country, and she went undiagnosed as we left the hospital with our bundle of joy.

Things seemed to be wrong since the very begining, Katy was in constant pain and cried most of the time. I was breast feeding, and thinking that perhaps she was intolerant to spices and dairy, I kept my diet to rice and dry chicken breasts. Katy developed a umbilical hernia, and a few months later dislocated her elbow (due to low muscle tone). Her hair began to lighten and she slowly drifted away from us.

It was at six moths of age when things started to get real bad. Not only was she missing her milestones, but she was losing the ones she had accomplished. By the time Katy was eight months old she could not roll over, reach for a toy or even hold her head up. Then, her seizures started.

It took a while to identify her seizures, because they weren't the "typical" grand mal seizures one would expect. They were infantile spasms, or west syndrome which manifest in the form of short spasms, very much like the kind newborns do in the middle of their sleep. After a few months, they became worst and we started to worry. Having seen a whole team of doctors, we wound up in a neurologists office- where Katy was diagnosed with epilepsy. Not just any epilepsy, but West Sydrome and a 95% chance of brain damage. The search for its cause began.

It was five in the morning when it all sunk in for me. My husband and I harldy slept as we cried together for the lost future of our only little baby. We had planned and hoped for so long! We had waited through a horrible infertility crisis. I nearly lost my life giving birth (emergency stroke operation was done one me). Katy was our world, our life, our herriatage! All we had strived for with sweat, tears and blood- was now being snatched right from under us and there was nothing we could do to stop it. All we could do was stand over her crib and watch as she convulsed yet again.

Then my husband made a stand. We would not bow our heads in defeat. Our daughter needed us to believe in her. Her future depended on it. She was not just another number or another statistic. Katy was as unique as her figerprint. And we would carry her through and out of this mess.

Many tests were done and much blood was drawn. My little trooper turned into what seemed like a science experiment. After many months, we were down to our last two options: an aplified amino acid test and a mithochondria biopsy. We did the first of the two- which proved a positive for PKU. It was relieving not to do a muscle biopsy on our little angel. We set up an appointment with a genetisist in the US. In the mean time, we starved our daughter for a week, until we could get our hands on some PKU formula.

Katy's phe levels were at 19. Much too low for epilepsy, according to the genetecist. He assumed her condition was much worse than a classic case of PKU. Co-factor deficiency tests were run. There had to be something else provoking the epilepsy.

"Your daughter may not even walk by the age of 5," the geneticist informed

The world spun right under my feet. I had to hold on to a desk for balance. Even then, in that aweful moment, I clung to my faith. No matter how hard, I would not lose hope. I had promised that to my husband. To Katy. To God.

The formula finally arrived. It tasted aweful to my daughter and she hardly drank any of it. I was crushed. It was all the food I could offer her. It was precisely then that her blood tests were taken. The genetisist was confused. There was no co-factor defficiency. For a one year old with an unrestricted diet (chicken, rice, beans, milk, oatmeal and more), Katy's levels were much too low for CPKU. What was even stranger was that her tyrosine levels were twice as much as she needed them to be.

"I dont understant why," her genetecist said "but there seems to be some kind of battle going on in her mind. High levels of tyrosine are protecting her from the high levels of Phenyl alanine."

What came later was even more astounding. Katy's epilepy simply vanished. It got wiped off the map. The neurologist couldnt explain it. He said that this form of epilepsy, even if controlled, would still manifest on an EEG until childhood. Katy's brain showed no evidence of having ever suffered from epileptic seizures!

After that, Katy begun to catch up. Each milestone led to another- and another, Today, she is two and a half years old and we are in the process of looking for a school for her. She is still a bit delayed, but watching her grow. Seeing her strength and determination, there is no doubt in my mind that Katy will come out of this with flying colors.

As of today, she walks, runs and understands and follows instructions. We're still waitng on the speech, but don't worry. That will come too. She is happy and engaged and has a mind all of her own. I used to feel sad about her genetic mutation, but then I realized: if chromosome 12 been composed of a healthy PAH gene, she would have been a different child. It took this precise genetic combination to make up who she is.



I'll keep you posted.

her conception story---->


Matt & Heidi said...

Michelle, that was a great story. I love your positive attitude, and I really felt every emotion while reading that. Thanks for sharing, and keep us posted on your cute Katy! I'm glad you are contributing to this blog, hopefully more people continue!

Vegemommy said...

Michelle. Your story brings tears to my eyes. Thanks for sharing. I'm going to go kiss my two little PKU baby girls:) -Heidi

janice.willis said...

I can fully understand what you must of gone through with your little Katy my little boy has Pku and late diagnosied at 11 months he had no fits but was lagging behind on milestones. He is now 8 years old and doing well very good with his diet and only lagging behind his peers by about 2 years. All i can say is keep up all your hard work with Katy as it does really pay off in the end.

michelle hays said...


How can I find you and know more about your story?

Alicia McDonald said...

She is such a beautiful little miracle. My daughter just started having spasms (she is 8 months old) and we can't get in to the neurologist's office for an EEG for another we're waiting and praying. Your story gives me hope that she can pull through this (although I don't think my daughter has anything near the severity of yours...). Thank you for sharing your story!! God bless you and your family.

Anonymous said...

Hello my name is Jamesha. I'm 17 years old and I do not have PKU. With that being said I do love your story. I am also a strong believer in God the Father and in miracles. I will be praying for you, your husband, and your beautiful daughter Katy. May God bless and you all keep the faith.

Eudea-Mamia said...

Wonderful story - she is absolutely beautiful. Em

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April said...

My daughter has PKU and this was very inspiring. Bella was diagnosed at birth so I knew right off but it was still frustrating that my baby girl had something wrong with her that I couldn't fix. Keep us posted!

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