Friday, February 28, 2014

Rare Disease Day and Happy Birthday Aunt Kiki!


 Today is a special day...as Amy says it wasn't a day that really meant much to me until I met her and her little sweetheart Caroline. Amy and I met through a mutual friend and really "hit it off." You know those people you know you will get along with from the beginning!?!? Ya, she is one of them. We were bridesmaids in a wedding for one of my best friends last summer. We have remained friends and continue to chat on a weekly basis. We have more trips planned to spend time together and I can't wait to see how our friendship grows. Amy and her husband have a little girl VERY close to the same age as Sloane. Please read about their journey...
Today is February 28th and for most people this day means nothing. February 28th started having significance in my life two years ago when my husband and I welcomed our Caroline Grace into the world. February 28th is Rare Disease Day.

When I was pregnant, people always told me that I will forever remember every little detail about the day your children were born. They were right. I remember every detail and always will. I remember holding her and counting ten little fingers and ten little toes. She was perfect. A blessing sent to us from God that neither my husband nor myself felt like we were truly capable of deserving.

It is funny though, because as much as I remember February 21st, 2012, the day Caroline was born, I remember February 24th , 2012 even better. On that day, I got a phone call that changed our lives. I received a phone call telling me that Caroline failed the newborn screen for Phenylketonuria (PKU). First of all, I couldn’t even say the word back to the nurse on the phone, let along know what in the world she was talking about. I just replied “What?” She then proceeded to tell me to take my baby to the University Hospital as fast as I could for additional testing. You can only imagine the thoughts that were running through my head. Fast forward to that evening and we did indeed find out that our perfect, ten fingers, and ten little toed baby girl had PKU.

PKU is an inherited disorder that causes a person to be unable to process a specific part of proteins called phenylalanine, which is present in most foods. Without a closely monitored diet, phenylalanine (or phe, as the PKU community calls it) will build up in the blood stream causing severe brain damage. Because protein is crucial for growth and development, special phe-free formula is given from the point of diagnosis. Individuals with PKU need to drink this formula for their entire lives to get the necessary protein they need. PKUers cannot eat any meats, grains, soy products, fish, dairy, and beans; aspartame, the artificial sweetener commonly sold as NutraSweet and Equal, is also forbidden as it contains high levels of phe. The PKU diet is mostly fruits, vegetables, and very expensive medical foods, and all portions have to be carefully weighed out.

I wish I could go back and write a letter to myself two years ago. I would tell myself that watching your baby get pricked for blood work on a weekly basis would get easier each week. In fact, after the first five months you finally leave the hospital without shedding a tear. Then there is that time though, the week before Caroline’s second birthday, and she wants to sit in the big chair by herself and sticks her arm out smiling so proud of herself. I would tell myself that you will cry about this, but just because you cannot get over how tough your baby girl is becoming. I would also tell myself that it is not that big of a deal taking a scale to restaurants and over to friends houses. In fact, weighing her food has become such a natural way of life for Caroline that she knows you have to weigh her food before she eats it. I would tell myself to relax because Caroline has an amazing Genetics Doctor, Dietician, and Genetics counselor. In fact these people are so amazing, that they have become a very integral part of you life. I would tell myself to not worry about the overwhelming price of her medical foods and formula, somehow we make it all work out financially. I would also tell myself that there is not a day that will go by that you do not worry about her future and about her growing up “different”, but that just comes with being a mom. One of the biggest things I would go back and tell myself two years ago is that one day, you will look at Caroline and realize that it will be OK if your next child has PKU (we have a 25% chance each time we have a child), and that you will realize one day that it could be so much worse.

I will forever spend my life advocating for this rare disease. PKU occurs in 1 of 10,000 to 15,000 newborns. There is a lot of financial stress that comes along this disorder. Luckily for Steve and I, once we meet our deductible, which is still around $4,000, our insurance picks up the costs of her formula and most of her foods. I know others with PKU aren’t as fortunate. My hope is that one-day formula and foods are available for anyone with this rare disease. I also hope that I am alive to see them find a cure. I am extremely grateful for the newborn screening that saved my daughters life. If it weren’t for that test, our daughter would have developed irreversible mental retardation.

So here is to Rare Disease Day. To the 7,000 Rare Diseases. To the 30 million affected. And to the 95% without approved treatments. And here is to my perfect little girl. 


Today is Feb. 28th so can't forget to say Happy Birthday to a very special Aunt as well...Aunt Kiki!!!! We love you and can't wait to celebrate today!!! Thanks for being such an important part of our "little's" lives!!! 



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