Kirstyn T – updated 3/2016

您好PA朋友!! 它已经有很长一段时间，因为我们已经讨论了很多的你!! 它是如此的高兴通过共享Kirstyn的更新故事能回到触摸! 对于那些你们谁不知道我们… 我将从头开始. Kirstyn佩奇出生于八月 17, 2004 而经过十多年不孕和顺利怀孕，她终于到来. 她出生时，她开始出现黄疸和我们的儿科医生的迹象，决定执行一些血液工作. 它带回来ABO血型不合的结果，她需要在佛罗里达大学的三重光疗法家乡北运一小时尚兹. 这也恰好是我的母校…所以…GO鳄鱼!!!! (我只好扔在那里!.) 当然，我们都担心死了这一诊断，但我们根本不知道什么是对的地平线. 虽然Kirstyn是在尚兹新生儿室，她反应良好，黄疸治疗 , 但她开始有一些其他问题. 六日龄她成为几乎昏昏欲睡，不肯吃奶，似乎甚至都很难睁开眼睛. 我变得不安，问护士叫医生来检查过她. 他开始担心在她的呼吸困难，决定她需要住进新生儿重症监护病房进行进一步的评估和测试. 日为她的病情恶化了，她居然停止了呼吸. 值得庆幸的是，她在医院，并获得非常快速的医疗服务. 她的氨已上升至30 700 她是酸中毒. 她是在透析, 插管和医务人员表示，他们担心她可能不走夜路生活. 她只有七天. 我们完全摧毁!!

医生通过医生的名字. 伯恩斯坦是在新生儿重症监护室值班，他曾与代谢性疾病的一些有限的经验. 他马上打电话遗传学团队，几天后我们有丙酸血症的确诊. 她花了九 1/2 周在新生儿重症监护病房，并终于得到了释放令我们一直在等待! 快进………………………..

Kirstyn是一个了不起的11岁即开始中学在过去的一年. 人们当他们告诉你不要眨眼权! 我的宝宝是如何成为老得足以启动中学? 她已经在过去几年大约十四随后住院，幸好现在还没有过为十八个月的准入!! 她仍然是在尚兹处理，还开发了心肌病和交界长QT. 她的医生是惊人的，这个医疗队在我们身边她的整个生活站!! 她被插入在三个周龄一个GTUBE这一决定拯救了无数我们前往医院. Kirstyn也吃口服和大部分时间消耗 100 她的食物经口的百分比. 她的口味经常改变，她最喜欢的一个星期的食物会不会她最喜欢下周的食物. 叹……… 她喜欢巧克力, 炸薯条, 多力多滋, 意大利面条, 糖浆和土豆煎饼的甜茶和麦当劳煎饼洛塔. 我们正处在一个非常友好的名字来与我们当地的麦当劳员工. 🙂

Kirstyn实际上有一个天才的智商，而她在学校的卓越能力，, 它并不总是这样变成由于她的多动症的诊断适中. 她是能够采取非兴奋剂药物来治疗多动症她，但医生不会授权任何兴奋剂药物，由于她的心脏问题. 有些日子的行为是一个真正的斗争 , 但她从来没有停止她的魅力惊奇我们, 机智和幽默感!

Kirstyn颇有艺术家，实际上已经开始了她的素描和油画的艺术组合. 她采取了私人艺术课，这是她的激情. 她还练习射箭与她的爸爸和喜欢拍摄她的弓和捕鱼. 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!!

我从其他一些PA父母做一生的朋友，他们的经验帮助我们导航丙酸血症的这些困难的水域. 由于我多年的经验不断增加我的希望是，我可以诱导hep其他家长以及. 从罗尼的爱, Marsha, Kirstyn和卡森.

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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, & 卡森