Kristin, it’s hard to believe it’s been fourteen years since you were born. Texas did not screen for propionic acidemia in 1999, and we found that out the hard way when you were five months old. Your first metabolic crisis landed our family in the ER on your brother’s third birthday, but at that time the physicians only thought you had a virus. After three days of IV fluids and glucose they sent us home. We still did not know you had PA at that point and continued to feed you high protein Similac. Over the next week you started to go downhill again with a lack of emotion, staring into space, and continued vomiting. By the time you were rolling your head back and forth your pediatrician called and told us you had PA. Fortunately the ER physician who examined you had ordered organic acid tests 10 days prior or we still would not have known what was happening to you. I guess that started the most difficult journey your dad and I could have imagined.
When we brought you home from the hospital you were limp, emotionless and had no upper body strength. You had lost your ability to lift your arms, your head was unsteady like a newborn, and you flopped over at the waist. Your skin was very pale, and the mental connection I had formed with you was gone. I did not know who you were anymore. I had lost my daughter, and I did not know if you would ever come back. That’s a hard thing to look at, day after day. But over time, with a lot of patience, therapies and normal playing, you have grown into a very pretty young lady who can do a lot of things that we initially thought you might never do. Although you do not walk, you crawl or knee-walk everywhere in the house, play with puzzles, musical toys and instruments, your mini computer and communication device, and you love singing songs with anyone. You have now confiscated most of your brother’s old toys, and your most fun games these days are zooming trucks or hot wheels cars across the floor with someone, or swinging your Star Wars light saber around! Your favorite shows continue to be Clifford, Little Bear, Zoboomafoo and Veggie Tales. You love to go outside, go for rides in the van and play on the piano. Your favorite DVD concert is U2 with Bono singing Beautiful Day. You will stand on your knees in front of the screen with a big smile on your face and then pull your shirt up over your head and sing when Bono comes on stage. My goodness, if you were “normal” I might have a wild child on my hands with you turning into a teenager!
Over the years your PA diet and meds have changed quite a bit. You are no longer on the anti-diuretc hormone DDAVP because we found out, again the hard way, that you did not have diabetes insipidus. That was a wrong diagnosis at age 4 and somehow for six years you managed to do well on a drug that could have killed you. At age 10 you started to have seizures and everyone was puzzled. You never had seizures in the past. Finally, we realized you did not have enough sodium in your diet and after some testing it was determined your kidneys worked fine and you did not need DDAVP. You really shocked the doctors with that one. One doctor said you are an enigma wrapped in a mystery inside a puzzle box! You still take a number of nutritional supplements which are designed to help ease oxidative stress or increase energy production. Theses include B-complex vitamins, high dose biotin, Co Q10, vitamin E, sodium succinate and L-carnitine. We also give you vitamin D3 and extra calcium.
Your once tailor-made g-tube diet that for years included Gerber veggies, fruits and cereal was replaced a couple of years ago with a synthetic formula mix of Propimex-2, Prosobee and Polycose. This diet was supposed to simplify things , but instead it has complicated your care. In addition to gaining more un-needed weight, your new diet has made your skin look paler unless we manage to get you outside in the sun a lot. You were more stable on your old diet that contained a complex carbohydrate (oatmeal) than the new diet that contains Polycose or Sol Carb. I’m sure your glucose was maintained at a more even level with oatmeal than a simple sugar that causes your glucose to spike every 2 hours when you are bolus-fed during the day. The main problem is that to keep you stable and ketone free we’ve had to add more calories than we’d like and you have gotten quite heavy. You have always gained weight easily, but this synthetic diet has caused you to gain the most. Another problem that has developed more as you’ve gotten older is that any increase in protein requires an increase in calories or you’re sick. It’s kind of ironic that at age 14 we understand you so much better, but that it takes more tinkering with your diet to keep you stable. Perhaps this is a companion of puberty?
Well, Kristin, you are now a teenager, and we are moving into another black box, a real unknown. I hope you continue to stay stable and happy once the hormones really start to cycle. And I hope you adjust well to your brother moving off to college in a year or so. You love your brother so much! What are your dad and I supposed to do when Eric is not here to say “nite-nite Kristin!” as your sign-off to go to bed? You already need Benadryl and melatonin to sleep well. We might have to do Face Time! Sweet dreams pumpkin, we love you.
No one can be prepared for the arrival of a special needs child. When you came into the world on Sept. 28, 1999 our family rejoiced at your birth and I marveled at God’s newest creation. You were so big, 8lb. 14oz., and had a head full of beautiful dark hair! Dad and big brother Eric (2 1/2 years) helped take you home and we were satisfied our family was now complete. You were a good nurser, but on the third day at home you began to reflux after you ate. Our pediatrician reassured us it was just normal baby stuff, but something inside me felt wrong. Two months passed and although you were growing and developing the constant refluxing made things so difficult. Since I was nursing you I didn’t know how much you were really eating, and sometimes after you threw up you were just too tired to nurse any more. It seemed to me that you were reacting to everything I ate that was spicy, so I limited myself to a bland diet to try to help. It didn’t.
You were also so sleepy. At first I was happy that you actually slept 6-7 hours at night, unlike your brother who had me up every 2 hours at the beginning. But this also turned to concern as you only wanted to nurse 5 times a day and took a 3-hour nap in the afternoon. We were advised to let you eat and sleep on your own schedule, but again I felt something was wrong. I just didn’t know what. You were not quite as active as your brother had been, and you didn’t smile as much as Eric at the same age, but everyone just thought it was a difference in children.
When Christmas arrived in 1999, you were 3 months old. We had a large family gathering and you caught a bad cold. The congestion made you so miserable, you threw up all the time because you couldn’t clear the mucus and looking back I can see that this is when you first started sliding downhill. Antibiotics helped clear the lung infection, but you were getting so little milk from nursing I couldn’t believe you were still growing. You were at 75% for height and 50% for weight, almost like your brother had been. This stumped the doctors in retrospect, because PA kids “aren’t supposed to grow that well.” The nursing by now was tearing me apart because I knew there was something wrong with my milk. I had intended to nurse you for a year like Eric, but I was getting desperate. One day you would nurse really well, but then throw it all up, then the next day you would nurse so little. We were on a roller coaster ride and the only way I could see to stop it was to wean you and put you on Similac which I could measure. That way if you threw up, I could make another bottle and give it to you. I tried feeding you rice cereal but it made you constipated for almost a week. At your 4-month checkup, when you still convinced the doctors there was nothing wrong, I told your pediatrician I was going to wean you early. That’s when our lives changed forever.
My dearest angel, if I had only known you were reacting to the protein in my milk I would have never given you Similac. At first I was so relieved when you chugged it down. After one day you had decided the bottle was OK, and began drinking more at each meal. It seemed to perk you up and I thought this was the solution at last. Why hadn’t I done it sooner? But no sooner had that hope appeared when it was suddenly dashed to pieces. It was Feb. 24, 2000, Eric’s birthday and 6 days after I had switched you to Similac. Your big brother was turning 3! After all the confusion and readjusting during the past 6 months we were finally going to have a celebration. That morning, however, was anything but a celebration. You awoke crying which was very unusual. Then you threw up 3 bottles in the morning and just wanted to sleep. You were almost 5 months old. As we were getting ready for Eric’s party, something told me you were in trouble. I didn’t know what, but you were definitely acting lethargic and looked like you were feeling bad. We rushed to the emergency room at Children’s Hospital of Austin, and after 2 hours of waiting we were finally seen by the physicians. Thank God you had been taking a bit of Pedialyte while we were there. You were so lethargic. The ER doctors kept pinching your skin and looking at you in a funny way. You were so dehydrated they said. But you had only thrown up that morning . . . it didn’t make sense. It took 6 hours to get an IV in you. It was a nightmare. Your veins kept blowing, and it took 12 tries before they finally got one to hold. You had a spinal tap and you didn’t even cry. It was to your good fortune that the ER doctor had the foresight to order organic acid tests that night, because I know now even he didn’t think you had meningitis. After 3 days in the hospital you seemed to be yourself again, and you looked so much fuller in the face and body. You were finally well hydrated. The doctors said you had an intestinal bug, no big deal. So we went home and put you right back on Similac.
Over the next 9 days you started to go downhill again. You began to interact with us less, smile less, and just had less energy. You began throwing up more, and a trip to the pediatrician only led us to giving you Lactofree. That helped for a day or two, then we tried Prosobee. Again the diet change seemed to help, but by day 8 you started staring around the room and moving your head back and forth. It was then that I got scared. I knew something was definitely wrong, and when we got to the pediatrician’s office, even the doctors agreed it was “either metabolic or neurological.” A call to the hospital revealed a diagnosis of propionic acidemia. I certainly wish it hadn’t taken 10 days to get the organic acid results back. Initially no one thought much about your ER visit. You didn’t have elevated ammonia, there was only a slight anion gap, and when you got back to baseline, everyone assumed you were fine. You were now immediately put on Carnitine and biotin supplementation. Our journey had started.
Two days later we found ourselves in the office of Dr. Stuart K. Shapira, M.D., Ph.D. metabolic and genetics specialist at the University of Texas Health Science Center in San Antonio. You are so fortunate to be in his care, Kristin. He’s the most knowledgeable and caring physician I have ever met. The whole team is great. They are now part of our family. Patty Thomas R.D., L.D. is your wonderful dietician and she is always available for consultations. She’s tailored some interesting and creative diets for you! Like when you couldn’t get enough calories and formula because of your refluxing . . . we simply put you on Propimex-2 instead of Propimex-1. It cut out some volume and you were able to keep enough of it down. Remember when we added the flaxoil and lecithin to the Propimex-2? It really worked to keep everything in suspension at night in the bag. Marsha Zimmermann R.N. is Dr. Shapira’s nurse, and her smile and encouraging words are always so comforting when we go to San Antonio for your checkups. Since my parents are both deceased and we have no family close to help, I feel so fortunate to have been given this great group of people. Your first year was so hard, and I really missed my Mom’s help and advice.
My little girl, I can’t believe you are already a 2-year-old! You were hospitalized twice between 5 months and 7 months of age because we feared you were becoming acidotic from not eating enough. You were OK both times. You had a g-tube placement at 8 months when you simply decided you wouldn’t drink your formula any more and started becoming acidotic. A few weeks later this was replaced with a Mic-key g button. We have to bolus feed you during the day, and at night you are fed by a pump. Sometimes you eat a little bit of cereal or veggies, but only if I let you get too hungry and that’s not good for you right now. Your tummy certainly has become sensitive, because you can tell the difference immediately if I try to pump you too fast. Your stomach has been such an issue from the start! At 15 months when you were in the hospital for an RSV infection, you couldn’t keep anything in your stomach for 6 days. Your little esophageal muscle was just too weak and never got stronger. You were also in such need of more liquid each day. At that time we were strongly advised to let the surgeons perform a Nissen fundoplication so you could quit throwing up, keep your food down and stay hydrated. You really don’t like ketones.
Although it was the hardest decision to make for you, the Nissen surgery has literally changed your life and our lives as a family. You finally can get ALL the formula and water you need each day, and we can actually go places as a family without fear of you throwing up on someone. You have been to the beach and to your grandparents ranch numerous times since the surgery, and if you get queasy in the car I only have to attach your extension tube and syringe like a radiator overflow looped under your leg. It’s amazing how it helps you. We’ve also learned that most of your gagging is simply due to air or mucus in your stomach. As long as we “burp” you well before and after eating you are fine. Colds, however, are still hard on you.
Your diet now consists of Propimex-2 70g, Prosobee 110g, lecithin 1 tbl., and flaxoil 15ml brought up to 30 oz. with water. This gives you a total of 2.5g protein/kg body weight. Your PCC enzyme analysis indicated you had between 4 and 14% enzyme activity, so you tolerate more protein. You also get cereal, veggies, and fruit which I mix with your formula boluses. You are on biotin 1mg/day and Carnitor 18ml/day. We supplement you with a B vitamin complex, multivitamin+iron, folic acid 1mg/day, coenzyme Q-10 50mg/day, DHA 100mg and vitamin E 400i.u. Once a week I give you a little extra chromium. In addition, you keep asking us for more water, so you get another 30 oz of water each day. I know you are hydrated!
My little overcomer, you have come so far since your attack at 5 months. When we first brought you back from Dr. Shapira’s office, I thought I was looking at someone else. You were so pale, so limp, you couldn’t lift your head, move your arms or roll over. You slumped in your chair swing and couldn’t sit at all. In all reality you had died. My baby was gone and replaced by someone I didn’t know. It took a long time to get to the point of seeing past the physical, to the real you. Now your Daddy and I work on bringing you back, and I know you feel that love. You and your brother Eric clown around and make us laugh. You two are so bonded to each other. You can now sit, clap hands, laugh, play with toys, crawl, stand with help and before long we know you will be walking. We can’t wait for that because you are 38 inches tall and weigh over 17 kg. You are our barbells! You also have a variety of hand gestures and vocal sounds to tell us what you want. Recently you have been able to say mama, papa, up, go, ba (for ball) and a number of consonant and vowel sounds. You are precious to us. We love you so much, Kristin. You have changed our lives, and without you I would never have thought we could rise above so many obstacles. We thank God for all the direction, support and guidance He’s given us during the past 2 years. Your smile and trust in us makes us want to fight for you all the more.
We love you,
Mommy and Daddy
Russell, Janice, Eric and Kristin