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Propionic Acidemia

Kristin, has it really been almost ten years since you came into our family? Our lives were so different a decade ago. Things were simple, understandable, and fairly predictable. Ten years ago I was pregnant with you in the middle of a hot Texas summer and running after your energetic two year old brother Eric. Eric had just potty trained… now he was a big kid, so of course that’s when he decided he also no longer wanted to take naps! Everyone was talking about stocking supplies for Y2K. By July I was already looking forward to late September when I would finally hold you and it would be cooler. One afternoon Eric listened to my tummy and told me you wanted to be named Tia, and then he set a small table with his bears and puppies for a tea party. After arranging the food he left one chair open and said it was for you, so everything would be ready when you came. On September 28, 1999 you were born, and although we were already aboard that ship to Holland we didn’t have a clue. Your first five months of life was a blur of confusion, worry and constant throwing up. Somehow you managed to grow even though you lost a large amount of your food each day.

Fast forward to February 24, 2000. After 5 months of sleepiness, lethargy and projectile vomiting this was the day you went into an actual metabolic crisis, but we had no idea what was happening to you. It was Eric’s birthday and he was turning three. We tried to wake you for the party, but you refused to wake up. It was really scary seeing you lay there so limp and unresponsive. We rushed you to Children’s Hospital in Austin, and I remember the ER physicians looking very concerned at you, then us, then you again. You were way too dehydrated for the amount you had thrown up. You were way too sleepy. You were very constipated. You had convinced each pediatrician since you were born that you just had baby reflux but inside I knew all along something was not right. No one listened. I had been nursing you, but decided to wean you to Similac and now you were really sick. After 3 days in the hospital the doctors said you had a stomach bug, but your dad and I knew that was highly unlikely. No one else in our family had been sick and you were cared for at home. So you were discharged and we went back home to feed you more high protein Similac. Over the next 9 days you went downhill again, becoming sleepier and constipated just like before. You were switched to a lactose-free formula, then to soy. The soy helped, but by day 10 you were staring blankly into space and moving your head back and forth repeatedly. When I held you, you could barely hang on to my shoulder or lift your head. Your pediatrician called the hospital for the results of the urine organic acid tests the ER physician had ordered. She told me to sit down… you had propionic acidemia and most likely were going to be mentally and developmentally delayed. We had arrived in Holland.

The next few months were packed with doctor visits, driving to the metabolic clinic in San Antonio each month, learning about PA, and coordinating physical, occupational, speech and cognitive therapy visits. We learned quickly that insurance companies will do anything to avoid paying for medical formulas like Propimex and Prophree, even when state law mandates they do so. We learned how to calculate your protein, water and calories each day, and how to make your low-protein Propimex formula, which smelled and tasted horrible. I was amazed that you drank it from a bottle, but I guess adding carrots helped! I read everything I could about propionic acidemia. It didn’t sound good. The average lifespan of a PA child in 1999 was 5 years. At one point I decided not to read anymore journal articles so I wouldn’t hold a preconceived negative picture in my head of your future.

When you were 8 mos. old you caught your first cold and suddenly refused to drink your formula. We had been sitting up with you nightly in a rocking chair feeding you every 4 hours, but the doctors asked us to consider placing a g-tube, which we did. Your g-tube was changed to a g-button about 8 weeks later, and that button has saved us from many potential trips to the ER because we were able to give you calories and fluids at home. You still had major problems with refluxing, however, so after a 10 day stay in the hospital for RSV and more urging from the doctors we agreed for you to have a Nissen fundoplication when you were 17 months old. Your Nissen has worked so well, we have never regretted doing the surgery, but since you can’t burp or throw up anymore we do need to vent you before every feeding. We call you our baby whale and you laugh when you blow air out of your tummy!

Kristin, I won’t sugar-coat the next seven years. Life with PA has been hard. You threw up or wretched and gagged so many times in the early days that today when I hear any child gag my heart speeds up and I still get that panicky feeling of “Oh God, is this going to be a hospital run?”. Every time I heard you gag through the baby monitor during the nights I felt like Pavlov’s dogs running to your room to make sure you were not suffocating. Your dad and I were always second guessing our decisions, wondering if we were doing everything right. What if we goofed? What if we misjudged what you needed or misread your behavior? The early days were fast, frightening and incredibly stressful. I hardly remember Eric’s fourth year of life. The lack of sleep was a killer. It was hard not having my parents around since they both died years before you were born, and it’s been hard over the years seeing how many people shy away from you because you are different. If they would only get down on your level, take the time to connect to you, they would see what a sweet and talented child you are. You have developed into a patient playful little girl who often shows her impish sense of humor!

The biggest curve ball you threw us was your need for so much more water than the other PA’s we knew. From the start you required massive quantities of extra water or juice to stay hydrated and not develop ketones. We bolus fed you about every 30-45 minutes all day, every day, and you were on a pump overnight to get all your food and water into you. When you gagged we had to take out all stomach contents, get rid of the mucus and refeed you. We were so exhausted from your schedule we actually started the evaluation process for a liver transplant. Why were you so different from the other PA’s? We got our answer when you were 4 1/2 years old and were hospitalized for a stomach virus that Eric picked up at school. You barely stayed hydrated using a central line, and the attending physician told us you probably had diabetes insipidus to need those amounts of water. You were given DDAVP, an anti-diuretic hormone that helps the kidneys keep water inside your body instead of you peeing it all out so quickly.

Once you started taking DDAVP our lives have been so much better. You started initiating more activities since you felt better, and we have had far fewer gagging episodes. Instead of about 16 bolus feeds a day we are down to 8 or 9. It’s been easier to keep your ketones in check, and it’s been easier to keep home health nurses to care for you since you are not gagging all the time. Although you are very heavy, at least you have been stable over the last 4 years. Reducing your calories has failed numerous times, but we are trying a new approach by very slowly reducing fat calories to hopefully keep you from gaining more weight. The cocktail of Coenzyme Q10, DHA, vitaminE, B-vitamins, carnitine and sodium succinate have helped your mental growth tremendously. You were hospitalized last summer because you had 3 seizures which was caused by not enough sodium in your diet. The DDAVP, salt and water concentrations are another factor we have to keep tightly regulated in addition to your PA.

Kristin, you have come such a long way from that pale, limp 5 month old baby who went into a major crisis because Texas did not screen newborns for PA in 1999. You have beaten the odds, and in a few months you’ll be ten. Although you are globally delayed you are a very happy child! You have learned how to crawl, knee-walk and climb into your bed, chairs and sofas. You carry toys from one room to the next, you roll balls and push cars, which is especially fun with Eric, and you can now sit in the bathtub all by yourself without being strapped in a bath chair. Just recently you learned how to open and close the foot rest of the Lazy-boy in the game room with either the side handle or your toes! OK, you earned it. The chair is officially yours to watch your favorite CD’s like Zoboomafoo, Clifford and Bear in the Big Blue House. You have learned how to point to which CD you want to watch, and you love your interactive push button toys and books. The more music the better, and this past year you started singing parts of songs, on key to boot! You like us to sing the songs back to you, help you play them on your toy piano, and you are vocalizing more and more sounds. You have several hand gestures to show us: “down, go outside, NO!, enough, I’m mildly irritated, and I’m going to scream if you keep doing that!” You have distinctive sounds when you are either thirsty or hungry, and you have a belly laugh that makes everyone smile. You learned how to draw with a crayon this year, to open and close the refrigerator door, and you like to match the farm animals on your wooden puzzles. Your favorite thing is to have Daddy give you your bath and to go riding in the van over bumpy roads so we can all say “whee!”. You simply love a good g-force around a curve! We are working towards identifying flash cards, alphabet letters and pictures in books, and you have several communication devices with recorded messages you can select. Your favorite places to visit are the beach and our family farm. You have gone to Padre Island in Corpus Christi every summer of your life, and you adore walking along the seawall with the breeze blowing in your hair. You love playing with your cousins Kasey, Chandria and Yesinia and will now give and take toys from them. You love your splashing pool outside on the deck, but I think your absolute favorite thing is to talk back and forth with Daddy and make funny faces so he’ll laugh.

One of the best developments for our family is that in spite of the ongoing stress and chaos, your brother has developed into a truly compassionate and talented young man who has excelled at school in every grade. This year Eric was voted Best Citizen and was chosen to be in the National Junior Honor Society in 6th grade at his middle school. To bring some meaning out of this PA experience I have felt a personal need to be involved with PA research activities. In order to help our kids and future kids I have spent quite a bit of time serving on the boards of both the Organic Acidemia Association (OAA), and the Propionic Acidemia Foundation (PAF) over the past 8 years. Both of these organizations exist to serve children with organic acidemias and to facilitate research into PA and other metabolic disorders. One day, Kristin, there will be a cure for PA. Hopefully you and I will have helped somewhere on that path.

So Kristin, my beautiful little girl, we’ve all come a long way. Your needs have pushed us farther than we ever thought we could handle, and although we have had some scary moments we know that God provides in interesting ways, and in His timing. Let’s go play!

We love you,
Mommy, Daddy and Eric
Janice and Russell
Austin, TX

From the Summer 2009 OAA Newsletter

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