Maren S.
Hi, I am Honey. My husband is Scott. We have a 6 year old son, Lyric, and a
new baby girl, Maren. Maren was born on February 13, 2012. She weighed 8 pounds and 6 1/2 ounces. Twelve days after having taken Maren home, on a Saturday, and while at our son’s friend’s birthday party, we received an urgent call from a doctor asking about Maren’s wellbeing. We then learned she had an abnormal result on a newborn screening, elevated C3, which could indicate a metabolic disorder. A couple of days later, we received a call from a genetic counselor from Denver Children’s Hospital who informed us that Maren was diagnosed with Propionic Acidemia. Maren shows no signs of her illness. She did not “crash” in the hospital and has not since. She is a month old now. Maren’s little body was fed for almost 15 days a typical newborn diet of breast milk and formula. She had no abnormalities in her urine while having this. We feel so lucky she was able to hold her own. She now has a team of doctors and a special formula that includes carnitine as well. Needless to say, as a family, we are devastated. We are slowly coming to grips with our new reality. She is a precious little girl and naturally we fear what’s to come. We are still learning about PA. Looking at Maren one would never guess what’s going on in her fragile little body. She appears to be just fine. As many other “seasoned” PA parents probably understand, we are in a pretty dark place having just been dealt this blow. We are scared, overwhelmed and shocked slowly making our way towards acceptance and looking for the strength to persevere and smile while doing it. It feels like an impossibilty right now. We are new to this community. We are willing to share our story and to hear from others.
Actualizar: 5/2012
Maren is now almost 3 months old. So far, so good is what I have to report. Maren has been doing wonderfully. We have made friends in other PA families since her diagnosis which has proven to be a blessing. Recently Maren had a diet change which included adding a large amount of protein back into her baby formula. This was scary, but everything is okay so far. Labs showed that Maren was severely low in 2 amino acids and just fine with the other 2. We struggle with her lab draws since she is so little and finding a vein seems to be quite a challenge. We have learned as a family and through the support of others to take each day as it comes. Learning to keep our fear in check is an ongoing lesson though. Doctors suspect that Maren has a “mild” form of PA. But, that is always prefaced with “only time will tell.” Maren is a sweet, happy, and strong baby!
modified program, but is included in the classroom activities. She participates in science projects, class presentations and is not afraid to speak in front of the class. Jenna has learned to write (with adult prompting the letters) and is still struggling with reading. She had a socio-educational assessment that showed she is weak in both long and short-term memory functions, which explains why she struggles with academics. On the positive side, Jenna is very good at reasoning. If I ask her to play with her brother, she will give plenty of excuses to avoid it. A parent would normally complain of this behaviour, but we are thrilled that our daughter has the mental capacity to make an excuse.
Kirstyn had OT & PT her first 3 years through an Early Intervention program. At the age of 3 she broke her collar bone in school because she didn’t reach to catch herself during a fall due to her low muscle tone. She’s clumsy when she walks, but has always been very active. Her mom said “If she gets red faced, we have to give her extra calories or she will spill ketones within an hour of hard play. We learned that the hard way during her 3rd birthday party at the park.”
with training wheels, which she got for her birthday. Playing on the computer is one of her favorite past times. She doesn’t like her little brother Cason (20 months), & often asks her mom to “Please send him back to the Little Brother Store.” She picks out all of her own clothes & doesn’t care what people think : ) And, she loves to do housework.
Hi my name is Amber, I am 12 years old and I am in 7th grade at Chestnut Log Middle School. I have PA and I’m ok with it. My favorite thing to do is listen to country music. My favorite artist, right now, is Carrie Underwood. I love to sing with her. I love to eat anything that does not eat me first. My favorite foods are spaghetti with marinara sauce, brocolli, and french fries. I eat and drink everything by mouth, including my formula. I kinda like the flavor of it. I do have significant developmental delays, but I am very happy. I have cool hearing aids, they are blue and white, and I just started wearing glasses. Not too bad either. I have not been in the hospital for about 3 years now, I hate the hospital, but they give you cool stuff while you are there, like toys and games, my favorite thing to do in the hospital is play bingo, I am very good at it.
Elemental. Algunas de mis cosas favoritas son Barney y rompecabezas. Tengo un montón de retrasos, pero eso esta bien, Estoy en una clase de una escuela donde todos los hijos conmigo también lo hacen. No comer por la boca, Tengo este tubo fresco en mi barriga y todo lo que necesito mi mamá o papá me da a través de él. Se puede comer mientras se está dormido? puedo. No he estado en el hospital durante aproximadamente 3 years now. Esto es muy bueno para mí, No me gusta el hospital y todos los palos.