Amber & Tiffany

Propionic Acidemia

Hi everyone!!!! First and foremost let me start by saying that I’m just a mom and not a writer, so please forgive me of any errors you may find, just remember this comes straight from my heart. Let me introduce you to the two most precious things in my life, Amber (PA) who is 10 and Tiffany (PA) who is 6. Our story began like most of yours did. Amber was born perfectly healthy, or so we thought, at 8 lbs, 6 ozs., while we were still in the hospital she started showing small signs of what was to come, she had trouble eating and starting sleeping a whole lot, the doctors reassured us that it was normal for a newborn to sleep that much and that she may just be having trouble breast feeding. We went home when she was four days old, and things changed that night. She would not wake up for feeding and she would not eat anything. Being new parents we were not sure if something was wrong or if we were just blessed with a baby that slept through the night. By morning I just had a gut feeling that something was not right and we took her to see her Pediatrician. Thank goodness for Dr. Gluckman, he was an experienced doctor who new immediately that something was not right and worked fast to get her to Children’s Healthcare of Atlanta. While still in his office he did a spinal tap and sent us on to the hospital by ambulance, by time we reached the NICU at Egleston we had the results of the spinal tap, and knew that her ammonia level was 735 and that she was in critical condition. The next few days went by in a blur still with no diagnosis. We were in the best hands possible, our Geneticists, Dr. Paul Fernhoff and our Nutritionist, Dr. Rani Singh, were working around the clock trying to find out what was wrong, finally on the fifth day; we heard the term Propionic Acidemia for the first time. As you all know, it was overwhelming but also a relief to finally have a diagnosis. Amber was put on the right formula and medications, and within two weeks we were able to go home. Amber’s first few years were very rocky, we were in and out of the hospital on a regular basis for acidosis and several “normal” illnesses but it seemed that when she turned two years old, someone flipped a switch and things settled down quite a bit. Medically, she has gone through several ups and downs since then but for the most part she has stabilized. She has had seizures, on and off through the years, and those are increasing as we get closer to puberty, but they are getting more under control each day, she has very low muscle tone through out her body and does need a wheelchair for long walks, she gets tired very easily and requires a considerable amount of rest each day, but overall she is doing better. Amber is moderately developmentally delayed. She is in a special education 4th grade class at a public school, and is doing great. This year she has met almost all of her goals and is very popular with all the kids at her school even though she has trouble with her speech. She has a g-tube, but eats all of her meals and snacks by mouth; we only use the g-tube for her formula and extra fluids everyday. Her favorite foods are rice and strawberries, this week. She is the sweetest, best behaved child we could have ever asked for. And then there is Tiffany, my wild child. We found out that she had PA when I was 36 weeks; the Geneticist did urine organic acids on me and found that I was spilling methycitrate. So when she was born by planned c-section, everyone was aware that she probably had PA also. When she was born she weighed in at 6 lbs. 13 ozs. and looked perfect too. We started challenging her system and within a few hours her ammonia level started rising, she was transported to Children’s Healthcare of Atlanta and under the care of Dr. Fernhoff and Dr. Singh by the time she was 8 hours old. Her ammonia level only got to 350 and she missed the coma stage all together. We thought because of these factors she would be better developmentally and physically. That was not the case. She has actually been more unstable than her sister. In the past 6 years, Tiffany has been hospitalized more than 200 times for “normal” illnesses and high ammonia levels; she has had pneumonia, RSV, staph infections, and over 18 blood transfusions. She is totally g-tube dependent, her diet consists of baby foods, maybe one day soon we will be able to change that. She is also moderately developmentally delayed, and is in the same special education class as Amber, she is in Kindergarten and has also met all of her goals for this year. She also has a wheelchair for long walks but seems to have more energy than Amber. She is a happy child that never meets a stranger, and loves to be around other children. Their two personalities could not be more different, Amber is quiet and loves puzzles, and Tiffany is outgoing and loves anything that makes noise.

Amber and Tiffany both are on the following formulas: Propimex-1, Polycose, Prophree, Valine, Isoleucine, Carnitine, and biotin. Tiffany is also on buphenyl. We have been blessed over the years with the most amazing team of doctors, first and foremost is Dr. Rani Singh, our nutritionist at Emory, without her help and constant support we would have been hospitalized more often than we were, Dr. Paul Fernhoff who has never given up on us even when they nicknamed Tiffany, “IFFY TIFFY” because they were so confused by her.

I know that most of your stories are similar to ours and I would love to hear from you. May God bless you and your families and may it be a great time for our children medically.
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Joey, Sheila, Amber and Tiffany