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.
Unique.
Miraculous
Strong.
I'll keep you posted.
www.michellehays.blogspot.com
www.katyhays.blogspot.com
www.youtube.com/michellehays
her conception story----> http://www.cci.org.mx/index.php?option=com_content&task=view&id=123&Itemid=51
My first stab at PKU friendly cupcakes! I baked them this weekend, I'm practicing for Owen's 1st birthday!
They were a little gooey on the outside, but tasted just like Devil's Food! Just like the recipe said....I'll post the recipe on PKU recipes later. I just made it from the Cambrooke website using their all purpose baking mix. I gave Owen a sample taste, and he liked them!
Just bought this cool wipe-board at Wal-Mart, so I can keep track of Owen's daily phe-intake. Does anyone else have a good idea on how to keep track?