Kirstyn T – updated 3/2016

Hello PA friends!! It has been a long while since we have talked to many of you!! It is so glad to be back in touch by sharing Kirstyn’s updated story! For those of you who don’t know us… I will start from the beginning. Kirstyn Paige was born on August 17, 2004 and after ten years of infertility and an uneventful pregnancy she had finally arrived. When she was born she started showing signs of Jaundice and our pediatrician decided to perform some blood work. It came back with the results of ABO Incompatibility and she needed to be transported an hour north of our hometown to Shands at the University of Florida for triple photo-therapy. It also happens to be my Alma Mater…so…GO GATORS!!!! (I had to throw that in there!.) Of course we were worried sick about this diagnosis but we had no clue what was on the horizon. While Kirstyn was in the newborn nursery at Shands she responded well to the jaundice treatment , but she started having some other issues. At six days old she became almost lethargic and refused to nurse and seemed to even have a hard time opening her eyes. I became upset and asked the nurse to call a doctor to check her over. He became concerned over her labored breathing and decided that she needed to be admitted to the NICU for further evaluation and testing. As the day went on her condition deteriorated and she actually stopped breathing. Thankfully she was in the hospital and received very quick medical care. Her ammonia had risen to over 700 and she was acidotic. She was on dialysis, intubated and the medical staff expressed their concern that she may not live through the night. She was only seven days old. We were absolutely devastated!!

A doctor by the name of Dr. Bernstein was on duty in the NICU and he had some limited experience with metabolic diseases. He immediately called in the Genetics team and after a few days we had the confirmed diagnosis of Propionic Acidemia. She spent nine and 1/2 weeks in the NICU and finally got the discharge orders we had been waiting on! Fast forward………………………..

Kirstyn is an amazing eleven year old that started middle school this past year. People are so right when they tell you not to blink! How did my baby become old enough to start middle school? She has had about fourteen subsequent hospitalizations over the years and thankfully has not had an admittance for about eighteen months now!! She is still treated at Shands and has also developed Cardiomyopathy and borderline long QT. Her doctors are amazing and this medical team has stood by our side her entire life!! She has a gtube that was inserted at three weeks old and this decision has saved us numerous trips to the hospital. Kirstyn also eats by mouth and on most days consumes 100 percent of her food by mouth. Her tastes change quite often and her favorite foods of one week will not be her favorite foods of the next week. Sigh……… She loves chocolate, french fries, Doritos, Spaghetti, sweet tea and McDonalds pancakes lota of syrup and hash browns. We are on a very friendly first name basis with our local McDonalds staff. 🙂

Kirstyn actually has a gifted IQ and while she has the ability to excel in school, it does not always turn out that way due to her moderate diagnosis of ADHD. She is able to take a non stimulant medication to treat her ADHD but the doctor will not authorize any stimulant medications due to her heart issues. Some days the behavior is a real struggle , but she never ceases to amaze us with her charm, wit and sense of humor!

Kirstyn is quite the artist and has actually started an art portfolio of her drawings and paintings. She has taken private art lessons and this is her passion. She also practices archery with her dad and enjoys shooting her bow and fishing. She also enjoys antagonizing her younger brother, Cason who is nine years old and unaffected from PA. Last year, we were given the honor of becoming an ambassador for Children’s Miracle Network Shands Hospital at UF. She has the incredible opportunity to join kids with other disabilities and I get the honor of sharing her story and bringing awareness to Propionic Acidemia and other metabolic conditions.

We live about an hour and half away from Disney and have had the fun pleasure of meeting up with some other PA families when they have been on vacation. So, if you are ever in our neck of the woods, please contact us and see if we can meet you too!!

I have made lifelong friends from some of the other PA parents and their experiences have helped us navigate these difficult waters of Propionic Acidemia. As my years of experience continues to grow my hope is that I can hep other parents as well. Much love from the Ronnie, Marsha, Kirstyn and Cason.

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Kirstyn T.

After ten years of infertility issues, Kirstyn was on her way! She turned 4 on Saturday Aug 17 & mom said her birthday was bittersweet as it is every year. Like so many PA families, her parents were told in the first week that their daughter would likely not live through her initial crisis. When Kirstyn was born she had ABO incompatibility which is basically severe jaundice, so she was transported to Shands NICU to get her liver to kick in. The first 7 days there, Kirstyn became very lethargic & stopped eating. One of the nurses even scolded mom saying she couldn’t take her child home until she proved she could feed her. The next day Kirstyn crashed, falling into a coma. Ammonia was over 700 & she spent 9 weeks in that NICU, during which time she had a core team of nurses assigned to her because of her rare condition & bleak prognosis.

After that, she went the entire first year without further need for hospitalization, but has had 4 since then. She’s had three blood transfusions of packed red cells. She was diagnosed with mild cardiomyopathy at 18 months, so she has an EKG & EEG every 6 months. Stomach bugs are the hardest thing, causing 2 hospitalizations due to excessive vomiting, ketones & high ammonia. December 2005 she spent 2 days in the hospital for a terrible ear infection that was first misdiagnosed as seizures because she was vomiting then zoning out. March 2006 she was in overnight for a respiratory infection & high ammonia. Her mom said “Kirstyn gets sick really quickly! Once she reaches moderate ketones, she will need to go straight to the hospital or her body will begin rapid decompensation.”

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.”

Last year at age 3, test results showed Kirstyn had reading & comprehension skills of a 6 year old, & counting & number abilities of a 5 year old. She’s going into her 2nd year of pre-k, geared toward medically impaired children with no cognitive delays. She’s quite bold & independent & it’s very difficult to keep her on a task she doesn’t want to do. She loves to sing, draw, & paint. She has very low muscle tone in her hands, so she really resists anything that involves use of hands, like using scissors. Due to her low muscle tone, Kirstyn still receives PT through school. She has a lot of behavioral issues & doesn’t like to listen. Her school has recently considered testing her for ADHD, even though they’re also considering testing her for the gifted program.

She’s just started her first activity, tap dancing & loves it! Recently Kirstyn learned to ride a bicycle 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.

Kirstyn eats 100% by mouth except when she’s sick. With a packed lunch from her mom, she eats so much better to at school with friends around. Her mom said “We always know when she’s getting sick because her first symptoms are always spilling ketones and she stops eating. For this reason she has a g-tube“. Like many young children, she has a weird diet consisting largely of french fries, pancakes, hash browns & loves to eat at McDonalds & Bob Evans! Her mom said she likes ketchup on mini frozen waffles & calls them mini pizzas & would eat ketchup on everything (anything mom lets her put it on!) She doesn’t care much for sweets, only an occasional M&M. At parties she’ll tend to lick a bit of icing to feel like part of the group.

As far as potential complications from PA, she’s doing amazingly well. As of this year her doctors said she only needs labs 4 times per year! Her restricted amino acids typically run around the low end of normal, & she’s given a Valine supplement because it’s always run below normal. Her Glycine is typically around 800.

Marsha, Kirstyn’s mom, expressed her sincere appreciation for the support she’s received from the other PA families through PAF, saying “We’ve been blessed to be part of this support community, which I’ve turned to for help on many occasions.” She said they’ve even met a few other PA families because they live so close to Walt Disney World, so look her up if you’re planning a trip!

On behalf of Marsha, Ronnie, Kirstyn, & Cason