My husband and I recently celebrated 15 years together which might not seem like a long time for many, but we were around 15 years old at the time we met. Our lives were in perfect order; we completed college, secured great careers, married, and bought a beautiful home to grow our family. These were all things that we planned for before we decided to finally have children. We did not know at the time but God was preparing us for many upcoming challenges.

Our PA story began in October 2011 when our daughter Elise (1 week) was thought to potentially have an organic acid disorder based on her newborn screening. Elise was home from the hospital for one week all the while eating and sleeping great when her pediatrician indicated that her screening returned with elevated levels. My husband and I were not alarmed because her older brother Melbourne (18 months) had the same elevated screening when he was born and then it was deemed normal based on the repeat test.

While we awaited Elise’s second set of results little Mel woke one morning not wanting to eat/drink, was moaning and running a fever. His right side arms and legs seemed to be limp. We rushed him to urgent care where they indicated that they thought he was having a stroke/seizure. Mel was transported to Children’s Hospital of WI where a number of tests, spinal tap, x-rays, and brain scans were performed on him that day. The following day we were told that they did not know what the cause was and we could go home and he would be put on anti seizure medicines. Shortly before our expected release the genetics team which we had met with just days before about Elise entered our room. They indicated that they thought Mel might have what they thought Elise has MMA or PA and he had suffered a metabolic crisis. After about a week in the hospital the diagnosis for Mel and Elise was confirmed; they both have PA.

My husband and I had suspected something was going on with little Mel’s digestive system since he had terrible constipation and vomiting episodes since he was about 9 months old; when I stopped nursing and we put him on formula/milk. For nearly 9 months before his crisis we visited with multiple pediatricians, GI specialists, and ER visits to figure out what could be wrong.

No one ever mentioned PA, and dismissed my asking if the vomiting/constipation had anything to do with his newborn screenings. We often think back to the signs and symptoms such as vomiting, gaging/choking, 昏睡, not thriving, staring spells, wobbling, and acid breath. This was at the time our only child and we depended on experts to help us figure out what was happening to our baby.

Both Mel and Elise are developing well; Mel is walking/running (getting into boy trouble) and starting to speak, he self-eats and drinks well. Since his crisis we have been following the PA diet very close with a Propimex mix and 15-16grams of protein/day. Elise is getting ready to crawl, she says “mama, dada, baba, and me” she is eating and drinking wonderfully a mix of Propimex/breast milk, and solid fruits and vegetables. Both children are taking Biotin, Carnatine, TriViSol, and Flagyl.

更新 3/2024

It has been 12 自从我们收到他们的诊断以来已经有很多年了, 他们都在蓬勃发展. 我将他们的健康归功于 PA 的一个不错的变体, 健康的生活和上帝的旨意. 它并不受到所有人的欢迎, 但我们选择通过日常补充剂更全面地对待他们 (渴望, 鱼油, 辅酶Q10, 和肝脏剂量) 他们都服用左卡尼汀来帮助净化，并服用低剂量的依那普利来预防 PA 患者已知的心脏问题. 除此之外，我们尝试健康饮食和锻炼. 在某些方面，随着年龄的增长，他们更容易理解当他们摄入过多蛋白质或感冒并需要额外糖来感觉更好时身体的感受. 在其他方面，更难以控制份量并让他们远离一些他们最喜欢的食物.

梅尔是一名青少年，即将进入高中. 他有很多朋友, 大括号, 一个手机, 喜欢跑车, 政治, 视频游戏, 并且总是那个有趣的人. 他会尝试任何食物并接受辛辣食物的挑战.
伊莉斯在 6^日 年级, 她有一个很棒的好朋友圈, 也带牙套, 一个手机, 喜欢读书, sewing, 艺术, 在学校表演, 并且是一名狂热的马术爱好者.

此外, 我们还有另外两个很棒的孩子没有 PA. 然而，他们还有其他条件让我们保持警惕: 西尔维娅 (囊性纤维化) 和阿斯顿 (花生过敏).

我们的家人永远不会让 PA 定义我们是谁, 这只是我们要处理的事情. 目前, 他们是正常的孩子，有着健康的生活方式，并通过一个超越统计数据的奇迹永远地联系在一起.

如果有人想了解更多关于我们家族是如何管理PA的, 我们很高兴分享我们在倡导儿童权益方面的经验教训, 整体生活, 体外受精胚胎植入前诊断, 大脑平衡, 或其他什么 – 让我们联系.

Mel & Nicole

When people ask me about my brother it’s impossible NOT to smile. He is such an amazing person! He’s friendly, strong, funny and has an infectious laugh. Reuben is completely comfortable being himself. He doesn’t judge others and has the purest soul I’ve ever met. It doesn’t bother me that he can’t drive, that sometimes I have to “translate” what he’s saying to others, or that everything in his world is related to a sport’s team- that’s “Rube”, my baby brother and my best friend.

I remember the day he was born very clearly, I was five years old and I was nervous, very anxious to meet what I thought would be a little sister. I remember being ushered into the room with my grandparents and my mama had the bow on the newborn cap covered up with her hand and then FINALLY she unveiled it and my life was forever changed- Reuben Wade Kleckley was born March 22nd, 1984. He was named after four generations of Kleckley men and I’m sure my parents had dreams of him playing professional baseball like my daddy and granddaddy did, but God had bigger plans for him.

When Reuben was two days old, he became very ill. He was having seizures and went into a coma- and the doctors really couldn’t tell my parents why this was happening or what was wrong. No one had any answers and I remember it was a very confusing time for me because what was a happy occasion quickly became a scary time for our family. Once he was moved to ICU, I wasn’t allowed to see him because no children were allowed, and that was hard because as a new big sister that’s all I wanted to do. After a few days, the nurses and my mom got together and broke the rules- dressing me in scrubs from head to toe so that I could hold him. I remember his baptism and watching him being baptized in ICU with my baptismal gown on, wires all over and a specimen cup taped to side of his head so he wouldn’t pull out his IV again- he was such a pitiful little sight. When Reuben was about a week old, he was flown to Johns Hopkins in Baltimore and was diagnosed with Propionic Acidemia, at the time there were only about 75 cases in the country so the doctors really didn’t give my parents a lot of hope. Most children didn’t live past infancy and those who did, typically had significant developmental delays. The latter proved true for Reuben.

As a child, in those first years I don’t think I really noticed that he had global delays- not walking until he was two or using phrases until he was four. It never dawned on me that he wasn’t doing things like other toddlers, I was just happy he was with us since there were so many times he almost wasn’t. I think we were more focused on his health with surgeries and trips to Duke to see specialists than any delays. I know my parents knew early on that he was going to have challenges, but it took me awhile before I noticed he was different. I remember the questions from friends and family and sometimes the stares when we would go out in public- it made me angry as a child, but it never made me angry at Reuben, it made me angry at the ignorance or other people. The only thing that bothered me about growing up with a special needs brother was that it was very isolating, I didn’t know anyone else like me and I didn’t have any friends who understood. I had no one to talk to about it. My parents would try, but I was afraid of feeling or saying anything that might hurt them or make them worry.

I think the question I get asked most often is, “Do you ever wish your brother was normal?” Sometimes people are shocked when I say “no”. I mean, what is “normal”? I think about how happy Reuben is, how much he enjoys the simple things in life and how, at 28, he is completely unaware of the negativity in this world. He’s had a lot of struggles, but he’s had so many more positive experiences! Having a sibling with special needs is not something you wish for and it’s not always easy, but Reuben has given us so much more than we could ever hope to give him. Christmas mornings are still exciting, watching him sing “Victory in Jesus” always brings tears to my eyes and it’s because of him that I’ve dedicated my professional career to working with children with special needs.

For a long time I’d heard “you’re so good with Reuben”… so, my family wasn’t surprised when I changed majors my junior year at USC, to work with children with disabilities. Once I met my first child with autism, I was officially hooked. I became an Early Interventionist after graduating in 2003 and in November, 2011, I partnered with a colleague to form Carolina Behavior & Beyond. Our company provides early intervention services to children with disabilities and developmental delays, mainly serving children from birth to age five. I love what I do and it’s truly amazing to see a child develop and transform before my very eyes. I found my purpose in life and I know without a doubt, I have Reuben to thank for that. He’s taught me that being different is not the end of the world, that there is wealth in every life if you have the heart to find it, and that you don’t have to be in the big leagues to pitch a no-hitter.

鲁本更新!

右王牌–手写在 1992 我当时正在上的创意写作课

鲁本将会 40 在他的下一个生日，所以可能是时候更新了. 自三月份以来他一直非常健康 2020. 鲁本参加我们教堂每周四天的日间活动和半天的活动, 一个星期一次.

他热爱棒球和 NFL 橄榄球的一切. 在许多个圣诞节和生日期间，他几乎收集了所有球队的球衣和帽子. 我们知道他对某事感到不安, 这很少发生, 当他扔下帽子时. 鲁本在一支特殊需要的棒球队和篮球队打球，他喜欢各种形式的蓝草音乐.

和鲁本住在一起就是早上受到 “祝福你妈妈”. 他的笑声可以出于任何原因或根本没有原因，并且像普通感冒一样具有传染性. 他喜欢去教堂和去餐馆, 即使他可能什么也不吃, 他只是喜欢和人们在一起. 鲁本被任命为他姐妹的幸福协调员’ 早期干预公司是她选择与有特殊需要的儿童一起工作的主要原因.

他所有的营养都是通过管饲的, Duocal 的混合物, Anamix 和 Ensure 会吃薯片或奇多.

他教会了我很多关于耐心、享受生活中的小事以及对任何事情感到满意的知识

来了.

如果您想谈论我们的孩子，请随时与我联系. 可以联系我：

Patt@CarolinaBehaviorand Beyond.com

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Gwendolyn Grace M. was born at 3:33 p.m. on February 3, 2006. She will soon be only 5 months old, but has already brought a lot of drama to our lives! She was diagnosed at 3 days of age with Propionic Acidemia. At 2 days of life we found ourselves at Columbus Children’s Hospital emergency room only hours after being discharged from the hospital of her birth. We were quickly transferred to the NICU, where we spent the next 2 weeks. That first night at Children’s, her ammonia level reached over 1,500 & she had stopped breathing. The fantastic medical staff acted very quickly. Gwen was intubated & put on dialysis. We nearly lost her a couple of times during that stay, but she pulled through. She ended up having another episode less than 2 weeks after being discharged. Once again, she pulled through magnificently. We have quickly learned the fragile nature of good health, the strength of a family, along with the amazing power of prayer. My baby girl is nearly 4 months old & seems to be beating all the odds. Despite her rough beginning, she is meeting all her early milestones. Gwen has an awesome fun club, including her brother, parents, grandparents, aunts, uncles, cousins, doctors, nurses, teachers, & 朋友. We are so grateful for their love & support. Check out our new web-site with even more pictures – Click Here.

Gwen’s 1st B-day!!!!

Toures Family

Ryin age 8 and Austin age 6.

Ryin was diagnosed at the age of 19 months old and Austin was diagnosed at birth,the boys see Dr. George Hoganson at Hope Childrens Hospital in Oak Lawn, 伊利诺伊州. 博士. Hoganson tells me that both boys have a very mild form of this disease, so they just take 10cc of carnitine twice a day, which makes them both very different from all of the other stories that I have read in the past, they need no special formula, no G tubes and both boys are allowed up to 40 grams of protein a day. I would love to hear from any other who family who has a child/ren with PA.

Carrie
Mother to Ryin(8)PA and Austin(6)PA

Leah M.

Leah is now 8 years old. There have been many changes in the past few years. We moved to a new house, built an in-law apartment for her Meme who watches her after school, and inherited a new dog. (a black lab puppy). Leah also has 2 new cousins Rachel 1 ½ years & Brayden 1 year. Both were born happy & healthy. She has been very healthy and is growing taller now. For a long time her weight was a major issue and her height had stalled. We installed an above ground pool for her last year and the exercise has been great for her. Also we found a therapeutic horseback riding place for her to learn to ride and strengthen her muscles. She loves it. Leah still enjoys doing puzzles, listening to music, and watching movies. She’s a fairly easy going kid. She has a routine that we follow consistently that helps her to stay focused. She is in the second grade and is reading and learning nicely. She is a bit behind her pears both academically and socially but seems to be doing ok. She doesn’t like school very much. She has been “tested” regularly since birth for one reason or another that she seems to be annoyed with school work at this point. The teachers try to make it interesting and exciting for her though. Not much gets her super excited. That has been our struggle this year. We found that when Leah wanted to ”get out “ of doing her work she was making herself sick and I would go pick her up. Finally we decided not to pick her up and she seems to have stopped doing this. We are going to have her tested for attention issues related to anxiety and stress to see if we can help her with this. Right now she is classified as “Other Health Impaired” because she does not fall into any other category which I think is hard for some teachers to grasp. She acts and does everything an 8 year old should do so why is she in special ed? And what affect does her Health Issue have on her learning ability? And will she get sick if we discipline her? I have tried to convey that she does have learning issues and just needs extra help and extra time to process things but it seems without a more definitive label some teachers don’t “get it”. And we even got a letter from her Docs stating that she can be and should be held accountable for her actions like any other child and it won’t “get her sick”. I am hoping this will be our most difficult year and from here on she gets the help and support she needs. It is tough sometimes for us and especially for Leah. We have started to see the pressure she feels she’s under to do good and be good. Sometimes we just wish she could be a kid without all this other stuff. Feedings, Doctor appointments, Labs, special classes. So many restrictions. We just try to do whatever we can to assure she stays healthy and is happy.

We just had an annual check-up and now have a list of follow up appointments to do. She had an echo, she’ll have an EEG and MRI in June and will be going back to follow-up with Dr.Korsons at Tuffs Medical Center in Boston. Leah’s diet consists of her formula containing Duocal, XMTVI Maxamaid, Pediasure and Complete Amino Acid Mix. She takes Carnitine, Biotin, Dextromathorphan, CoEnzyeme Q10, Sodium Benzoate, Iron Supplement, B-1 & pyridoxine. She gets Zofran & Flagyl when needed and takes Zyrtec for allergy symptoms. She gets 3 feeding during the day with her Zervex, (the new Infinity) and an overnight. She has never been interested in eating but does enjoy chicken in a bisket crackers and buggles washed down with water. We have accepted that she may not eat and that is ok. We feel that if she is happy and healthy than that is all that matters. We love her the way she is and her happiness is the most important thing in the world to us. Thank you.

Alma, Louie and Bob

My friend Alma asked me to write about her son, Louie, who was diagnosed with propionic acidemia when he was one month old. I found that I could not write Louie’s story without telling how he received a miracle — that miracle’s name is Alma — Joyce Putnam

Louie was born in a remote Alaskan Village. He was diagnosed with Propionic Acidemia when he was one month old. It was difficult for Louie’s parents to care for him for two reasons.

1) The people in his village live a subsistence life-style — fishing & hunting for much of the food they needed. Because of high costs of shipping to remote villages, the low-protein foods Louie needs are expensive. Fresh fruits and vegetables are often unavailable in the local store. There was also the risk that someone else would feed Louie food he was not allowed to eat. In a native village, kids belong to the tribe, so it is common for well-meaning relatives to offer food to all of the kids.

2) Medical care in the village is inadequate for anyone with major health problems. When Louie had a medical crisis, they had to wait for an airplane to come to his village. Then he could be flown to Fairbanks for medical treatment. On one of these trips to Fairbanks, his overwhelmed mother abandoned him while he was in the hospital.

Alma and Bob became Louie’s foster parents when he was 2 1/2 years old. Physically and mentally he was stilll an infant. He was tiny (undernourished). He had never learned to crawl or walk. Louie had major health problems. His prognosis was poor. PA造成了他的直肠失败. 他的耳朵和鼻窦是慢性感染. 路易预计将保持婴​​儿自己的余生. 他的肌肉和骨骼是如此之弱, 没有人希望他学走路. 他预计不会活到的年龄 5.

今天，路易是 12 岁的男孩与一个小的身体 8 year old (He is 47 英寸高，重 42 磅。) 精神上他是一个顽皮的两岁.

当他是健康的, 路易享受生活. 他可以走, 爬, 和乘坐三轮车. 他喜欢打篮球, 去为她的约翰迪尔鳄鱼与阿尔玛游乐设施, 和上学. 他喜欢音乐，有他自己的吉他，他喜欢玩. 他展示了得到重视. 他有幽默感和笑了很多. 他是充满爱. 他喜欢给予和接受拥抱. 正如任何正常 “两岁”, 他最喜欢的人是他 “Mama” 和 “Dada”, his adopted parents Alma and Bob.

Alma’s love (with Bob’s support) is the miracle that changed Louie’s life. That first year she stayed with him while he had colostomy surgery, PE tubes placed in his ears and a feeding tube inserted in his abdomen.

Alma took time to study about food. She knows how much protein and vegetable, fruit and grain that she feeds to Louie. She knows which foods have incomplete porteins that his body can digest and which have incomplete proteins he has to avoid. She knows to the gram how much protein he eats in a day.

Alma provided the tough love needed to teach Louie to crawl, then walk. She listened to him cry to be picked up while she waited for him to move toward her. She understood how much it hurt him to use muscles he had never used before. She also understood why it was important for him to learn to use those muscles.

Alma learned to know the early signs when Louie is developing an infection or other illness. Treatment is now started early, allowing him to be treated at home and not in the hospital.

As foster parents, Alma and Bob were willing to provide Louie with the special care he needed. They loved him as if he was one of their own. As his love grew, they knew that God had given him to them. When he was 5 years old, their love was strong enough to adopt a “special needs” child.

Today Louie enjoys life when he is healthy, but there are many days when he is not. He still has ear and sinus infections, that are becoming more frequent. His white cell count drops way below normal when he is sick. The list of drugs that no longer work to treat his infections grows longer. Providing him with adequate nutrition continues to be a challenge. When he is not feeling well, the only food he tolerates is provided by his formula which is fed through his feeding tube. Louie’s blood tests are discouraging. Many factors, such as the white blood cell count, are too low. Other factors, such as the amount of propionic acid in his system, are too high.

Equally of concern are the medical problems that can affect Louie’s quality of life — his ability to do the things he loves. Although he can walk, his bones are fragile and break easily. He wears orthotic supports in his shoes to support his ankles and to lessen the chance that he will fall and break a bone. He is losing his hearing. (This is not a typical symptom of pa). He now has to press his ear next to a speaker to hear the music he loves. Louie squints when he is looking at something that interest him. Alma worries that Louie will lose his eye sight next.

Alma and Bob know that the miracle that kept Louie alive for the last ten years may not last much longer. He has lived longer than many kids with pa. Althought there is no cure for the disease, Louie is proof that proper diet and medical care can make a difference in the lives of these children. It can give them quality of life — days when they can laugh and play — days when they can enjoy life.

Louie passed away on November 8, 2014. He lived to be 20 years old and is now running and leaping and praising God and we look forward to seeing him again with his body without any medical problems.