Late thoughts on gratefulness

Painful thoughts can enter your mind at any moment. For me, it was today, as I was getting Katy buckled into her car seat. Having just finished her supper, I was doing the usual mental math to recap the amount of phe's she consumed for that meal. I calculated that she had about a gram and a half of protein. I was proud of how much I was able to make her meal stretch. That's when the thought that has crossed every PKU parent's mind ran through mine-

"How Unfair"

I sulked inwardly, thinking of all the great stuff I wish I could feed my little girl. I imagined cheese cubes, and yoghurt cups. I thought of cookie jars and sandwiches. Is that too much to wish for? To hope that my daughter can one day eat good, nutritious food and not have to worry about it damaging her brain?

How unfair!

But then I thought about the Norwegian doctor- Folling, who insisted on finding the cause for mental retardation in two siblings. I thought about his pioneer research in the 1930's that led to the discovery of Phenylketunria. It was his enlightenment that led others to take up the torch and walk the next mile. From him came those who advocated and made blood screening at birth mandatory in the united states. Then, there were others- like Virginia Shuett- who spent their entire lives finding ways to feed people like Katy. PKU is one of the few genetic diseases that can be controlled by a diet.

There are so many other metabolic conditions that have no cure. Many are even fatal. That is not the case with Katy. We have research, support, information, and many types of foods fabricated to make PKUers live a more normal life. We have a formula that supplements her nutrition, a geneticist who checks up on her development (and always gives us good news), a well informed nutritionist, a whole team of therapists, and best of all- we have what so many other families wish for-

HOPE

So, even though this thanksgiving my daughter could not eat turkey, I am grateful that she could sit at the table and much on her special Cambrooke's food as we shared smiles, love and laughter.

PKU- what a cinch!

With all my pride, I post a video

Many of you know that my daughter, Katy, was diagnosed late with PKU. She was 13 months old when I put her on the diet. By the time she had her diagnosis, Katy was suffering from serious symptoms. She had four to six seizures per day. Each episode lasted between ten and fifteen minutes. Her muscle tone was extremely weak. She had no sense of balance. She lost all her milestones, and we felt like we were losing her. We spoke with the doctors about feeding tubes, walking aides, wheel chairs and even coma inducing medications.

That's when I decided that I was not going to sit back and let this over take my daughter. I have wholeheartedly devoted myself to her recovery, rejecting any notion of brain damage. I refuse to go down without a fight. And I refuse to fight and not win. 24/7 I am her nutricionist, therapist, cheerleader and mom. From this blog, you will see awesome things take place...even if they delay a bit.

For now, I leave you with a video of her healing progress. Katy has just turned three years old.




I truly believe in the healing power of laughter. We all deserve a chuckle. After all, we're all "normal"



Toodles, PKU community. I love you all. Thanks for the friendship.

Apples for a sweet New Year

I try to give Ryan food as similiar as to what others are eating as much as possible. It is especially important for me to do that because he has a twin sister. Tonight marks the first night of the Jewish New Year, Rosh Hashanah. In honor of the New Year, we often eat apples and honey to symbolize a sweet New Year. I made an Apple Crisp for our family dinner and tried a recipe for Lo-Pro Apple Crisp for Ryan.

APPLE CRISP

from Family Friendly Recipes

4 Apples, peeled and cored, sliced

1 1/2 C CBF Baking Mix

1/4 C Sugar

1/2 C Brown Sugar

1 TSP Cinnamon

1/2 C Margarine

Heat oven to 350 degrees. Mix together apples and sugar and spread in greased baking dish. Blend CBF Mix, brown sugar, cin., and margarine until crumbly using a fork or processor. Spread evenly over apple mixture, pressing down to cover all apples. Bake for 30-35 minutes or until top is golden brown. Serve with non dairy topping such as Cool Whip. For a variation, add strawberries to apple mixture.

6 Servings/ 1 slice each

4 PHE per serving (.2 exchanges)

Our Story

(As told on our blog...)

Ryan has a metabolic condition called Phenylketonuria, or PKU for short. PKU is an inherited, genetic condition in which the body can’t process phenylalanine (Phe), an amino acid found in many foods. Matt and I were both silent carriers for the gene. When babies are born, a heel stick blood test is done to test for various disorders - PKU is one of the disorders that is tested for. In the US an average of 1 in 15,000 babies is born with the disorder. People with PKU have a deficiency of an enzyme which is necessary for the proper metabolism of an amino acid called Phenylalanine(phe). Phe is an essential amino acid and it is found in nearly all foods which contain protein: meat, eggs, dairy, nuts and many other foods that are not generally thought of as containing protein (eg, most wheat products, such as pasta and bread, and some fruit, such as oranges and cherries). Additionally, Phe is found in aspartame, the sweetener found in most diet soft drinks,sugar-free jello and sugar-free candies/gum (look on the can of soda, you'll see the warning). If you have PKU you must follow a strict "low protein" diet to avoid all food sources that have high Phe. If the diet is not followed, phenylalanine is not adequately digested in our bodies and it builds up in our blood. Too much Phe is toxic to the brain. High Phe levels over an extended period of time can lead to vomiting, irritability, eczema, the loss of pigmentation in the skin/hair/eyes (people with untreated PKU often have light skin, blond hair and blue eyes) seizures, psychological and behavioral issues, and severe mental retardation. The goal of PKU management is to keep the amount of Phe in the blood at a safe level in order to protect the brain. The National Institutes of Health (NIH) recommends that blood Phe concentrations remain between 2 and 6 mg/dL for newborns to age 12. It is recommended that Phe levels be maintained between 2–15 mg/dL after 12 years of age. Currently, management of PKU consists of limiting Phe intake. To get adequate amounts of other amino acids found in protein (without the damaging phenylalanine), people with PKU have to drink a special formula. They have to drink this for their lifetime. However, there have been such amazing advances in the PKU foods, there are now other form he can get the amino acids he needs...special chocolate bars, flavored drinks. There are several companies that produce numerous kinds of "lo-pro" foods such as their version of mac-n-cheese, brownies, cake mix, pastas, cookies, breads, burgers, etc. Majority of the food will be veggie based. There is a special book which lists most foods on the market and their PHE content. PKU is certainly a detrimental disorder if not treated properly. If babies are put on the low protein diet at a young age, and they follow the diet throughout life, there is no evidence that their PKU will be a major hindrance in their accomplishments.

So here is Ryan's story. A few days after we came home form the hospital, we received a phone call telling us Ryan was a "red flag" for PKU and needed to be brought back in to be tested immediately. We had heard of PKU but really had no idea what it was. We were so worried and upset. When we started doing research online, the only words that stuck out were "mental retardation" and neurological disorders". After a few blood tests, meeting with a specialist and a nutritionist we learned Ryan had a milder version called mild hyperphe. Basically what this means is Ryan will be on a restricted diet, he may be allowed some things that a classic PKU person may not. We will know this as time goes on. We may have to "count" his Phe for the day and he may only be allowed a certain anount. He is goes for blood work once a month and sees his specialist and nutritionist. His levels remain within normal range. He drinks 2 bottle a day of his special formula and one bottle of milk.

I'm not going to sugar coat it...I had a really hard time accepting that Ryan has PKU. I was devastated. Here I was at home with my 2 beautiful babies and then one phone changed a huge part of our life. I constantly thought about it, it overtook me some days. I became extremely anxious. I started worrying about what he is going to eat in school or hard it is going to be to feed Katie things that Ryan can't eat. What's going to happen at birthday parties or family outings? As I started researching online and reading other families stories, I learned everyone felt this way and it will get easier. When we have children, all we want is for them to be happy and healthy. Well, Ryan is healthy and he certainly is one if the most happiest babies we know!

UPDATE:

Ryan is 15 months old and doing great. His Phe levels are between 2-5 and he is maintaining. His diet consists of lots of fruits and veggies, pasta and lo-pro veggie meatballs and ravioli. He loves cheese sandwiches and on occasion he is even allowed a yogurt. Because Ryan is hyperphe we are able to try higher protein foods like regular bread and pasta. He loves waffles and Trader Joes sell wheat free/dairy free waffles which happen to be lower in pro then regular waffles. Some days are still hard for me. I find that if I start to think too much about it, I tend to get overwhelmed. I do know however that PKU is a manageable condition and we are all doing great.

If you would like to learn more about Ryan and his twin sister Katie, check out our blog at Double Serving of Love.

Hello from Oregon!

We have been following this blog for a while, but haven't posted to share our story. We originally found all of this because my husband started a blog for our son Owen. You can find it at itsowen.blogspot.com

After our son was diagnosed with PKU we started talking about it on our blog and somehow we stumbled acrossed a blog about another little boy with PKU also named Owen.

The last 10 months have been a wild ride, though not all due to PKU. My son has had amazingly steady blood levels, but he has taken after my husband and is proving to be a very busy, thin little boy. We have had all sorts of trouble getting him to gain weight at the "normal" rate. He IS gaining, but because it is not the norm his diet keeps getting switched around. At first we were told since he hasn't gone over 360 (on a 120-360 range) as often as a growing child should without a formula increase, he is probably hyperphe. We even had a clinic visit where we were told to test his phe tolerance with all the food he could eat! (All logged and calculated of course!)This was quickly changed to 150 mg. of phe a day... The latest change has been due to his slow weight gain and we are now on 50 mg. of phe but with a rocket fuel concoction of milk. It includes Phenex-1, Similac and Duo Cal for the added beef-cake effect. Owen though continues to gain slowly. As a family we think the more calories we shove into him, the more he needs to burn it off.

We still hope to test that phe tolerance. After a fabulous week at PKU Family Camp I am feeling more sure of myself as a mother of a PKU toddler. I have no idea what new bump will come our way, but I am sure we will tackle it head on and do wonderfully. Owen is an amazing little boy, growing up faster than his mother would like and we adore him.

How to Calculate Phe/Protein

To derive phe from protein: multiply protein by about 30 (for fruit), 40 (for vegetables) or 50 (for grains like flour, etc.). The label gives only a rounded protein amount, so to be more safe in your estimates, you should add 0.5 to the value on the label. For example, if you have a food label from a baked product where the first ingredient is flour and the protein is 1 gm per serving, you would multiply 1.5 gm protein by 50 (=75 mg phe) to get the maximum amount of phe this product probably contains. If you have a food label from a fruit-based product that says 1 gm per serving, you would multiply 1.5 by 30 (=45 mg phe) to get maximum amount of phe. If you are using an exchange system, you would need to convert phe to exchanges.

This is a gross estimate of the phe content of a food. To be more accurate, you would need to have protein content of the item to one decimal place rather than the rounded figure.

(this came from the Listserv - from Virginia Schuett - thought it was a good thing to have on file)

Not just milestones- Historical Markers

If you've read my previous blog, you will know that Katy was diagnosed with PKU at the age of thirteen months.  By then, she was having six seizures a day.  The hope for her future was very grim.  But I am a firm believer in miracles, and I understand that God made me her mom for a very good reason.  Katy was given a 95% chance of severe brain damage.  She was diagnosed (among many things) with West Syndrome.  Most children who suffer from this condition learn to hold their bottles at five years of age, and some dont even learn to walk or talk.

I decided that one way or another, I would get my daughter back- the way she was handed to me- healthy and whole.  Wether it would be through an unexplainable, supernatural miracle, or through hard work to aide the neuroplastic process,  I would have my miracle.  I would fight.

But, like anything that is worth sweating, crying and bleeding over- a result has started to yield. Katy is making a comeback, and deep down, I knew she would.

I've just returned from Carls Jr.- a fast food restaurant. Inside, they have a little play center for children. Time after time, I have taken Katy there with the hope that she would catch on and play. At first, she would just stand there in a fright. She didn't get it. Children zipped past her, shouting and screaming in glee. She didnt even bother to look at them. All she ever did was stand still- waiting to be rescued from this strange place. After much coaching and insisting, she finally sat on the little floor and banged on it. I would get inside the toy and try to teach her to go up and down the slide. I guided her arms and legs through the toy, and she almost enjoyed it. As long as I moved her body through it. This went on for months and moths.

Today we revisited the place.

Katy took to the game almost immediately. She fluttered up the little steps and scooted all the way down the slide. Once, twice, three times- who knows- she kept going and going for half an hour. The children were no longer zipping by, she was keeping right up with them. Every now and then, she would stop a child and turn him to her face. It was almost as if she was saying

"wait a second... how come you're short like me?"

And to think that not even a month ago I was told by a psychologist that Katy could not engage in social play. This day marks a new era in Katy's life. It says to the world:

YES I CAN.

And now she is saying her first word.  Here is the video:

Going Lo-Pro

We introduced the Aproten ditalini to our almost 11-month-old son, and he LOVED it! We made it with the Cambrooke Shake N' Cheese, and it turned out great. Tasted just like the "real" mac n cheese. He also got to try out the Cambrooke butterscotch cookies at the Walk for PKU Research in Cincinnati last weekend, and those were a hit! He's also liking broccoli and bananas.

Phe-Counter and Some Gooey Cupcakes

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?

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.

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

Jiselle Elizabeth's Baby Food

Jiseul Elizabeth is now 6 months old. She was diagnosed with PKU and my whole world seemed to cave in that day. But we took it one day at a time, and here we are. She's crawling now, and even cruising a little. We started solids a couple of weeks ago, and her PHE allowance for this week is 30mg.

I called a couple baby food companies and here is what I found.

Gerber
They're kind, understanding, and if you ask them what the PHE content is of certain foods they will tell you. BUT so far they don't have a booklet or list that they are willing to send...

Beech-Nut
They are awesome!! Kind and understanding, and they even have a booklet that they said they would send to me in the mail with a list of the PHE content in their foods. They also said they would send the booklet to my sister in law because that's where we'll be spending the summer~! VERY VERY COOL!!!

Earth's Best
They were the worst. They were not very kind, and proceeded to tell me that aspartame is not in their foods so not to worry, and they didn't have a booklet and were not willing to find what the PHE content was in any of their foods...

Parent's Choice
Was kind ad said they would call me back...

As soon as the book arrives I will update once again~

Owen - food update

Owen has been introduced to the low-pro pancakes (cambrooke mixquick variety) - he loves them. We've also tried some baked fries - just sweet potatoes and regular potates, sprayed with pam, and sprinkled with season salt. Any other ideas?

Food! For Starters....

I know I'm one of the only ones posting here (if you want authorship rights, just send me an email to heidisrecipes@hotmail.com ) but I'm trying to document our experiences as they happen. Feel free to do the same. Owen began on rice cereal, and has moved up to Gerber 1st Foods. He's had applesauce, bananas, pears, green beans, carrots, squash and sweet potatoes. The fruit is not his favorite, but he really likes the green beans, especially mixed with rice cereal. He's still breastfeeding about 4 times a day, and has 2 bottles of Phenex per day. He's growing and progressing just like a normal baby, and we could not be more relieved and happy. He is such a joy!

Just an update

Our son, Owen, is doing great. His phe levels have been in the "normal" range, between 2-6, every weekly test we've done, with the exception of 1 test at the beginning, while we were adjusting his diet, and one time, when he was in the hospital with a nasty stomach bug. 6 months after his birth, we are feeling much more confident as parents, and have comed to realize that PKU is NOT that bad. There are so many worse things, and we are happy to be able to have a child with something that is treatable. We are especially thankful for the listserv, and our medical/diet caregivers. Owen has started rice cereal and will begin fruit and veggies soon. Then I'm sure we'll have more challenges, but we wouldn't trade him for the world!