2023 PA Conference Registration
Family Stories – Rachel G.
My name is Rachel. I am 40 years old and have propionic acidemia. I live with my mom and dad. Three days of the week I work at a work center for the disabled and on 2 days I go to work at the Painted Turtle. I love both my jobs but the Painted Turtle is my favorite. I get to paint and do other artwork that is sold to the public.
I love to read and go on my computer. I attend events at my local Special Recreation Program. We go bowling, have dances and attend plays.
My favorite vacations are at Disney World and the Disney Cruises. Disney is very good about helping me with my special diet.
Sam was born a week and 4 days late. Everything about his birth was perfectly normal unlike his older brother. I had the birth I wanted; he was breastfeeding well. For 3 days, life was perfect. Then, we got the phone call. His newborn screen had elevated C3. He had to go to the ER immediately. He did not have any symptoms at this point, so we assumed it was probably just a precaution. The tests at the ER showed elevated ammonia, hypoglycemia, and elevated ketones. He was then admitted to the Children’s hospital. After 5 days, we had the diagnosis of PA. He was discharged and stayed out of the hospital until 7 months old. From 7 months to 18 months, he was hospitalized 9 times for illnesses, exhaustion, and constipation. Most visits were only for a couple of days. After 2 rough hospitalizations, Sam was terrified of any female other than me (we assume because most nurses and phlebotomists were female). That’s when we decided to have a gtube placed. It was the best decision we ever made. He is now 3 and has not been hospitalized since the gtube surgery. Thanks to the newborn screen, he has never had a crisis. He is where he should be cognitively. Physically, he has hypotonia. He had to have therapy to help him learn to crawl and walk, but he still managed to walk by 18 months. In addition to the hypotonia, his energy levels are noticeably less than kids his age. During his yearly heart exam, he was found to have some signs pointing to future development of cardiomyopathy. It is too early to do anything about it so for now, we are just monitoring that.
Overall, Sam is a happy and thriving 3 year old. He is all boy and loves guns and superheroes. At the same time, he can be very sweet and loving. He also loves to eat especially chips and anything fried! We are so thankful for him and for all the doctors and friends who have helped us through our journey so far. Sam is only doing well because of our PA community and his wonderful metabolic doctor. No matter what the future holds for him we will continue to trust God and rely on him to get us through the tough times.
That’s Sam’s story. Thanks for all you guys do to help with PA.
Christian M. – updated Febrary 2019
Christian, also known as CJ, is a fun loving five year old. He loves to listen to music, dance, and sing. His favorite activities include playing with his sister and watching YouTube videos. Christian is in full day kindergarten and loves socializing with his friends. Christian joined Yoga Club at school and he participates in gymnastics, tennis, magic classes, and horseback riding through the park district. He loves to travel and his favorite place to visit is the Great Smoky Mountains.
Christian’s older sister was diagnosed with Propionic Acidemia through the newborn prescreening, therefore we had a crisis management plan put in place for his birth. Within 48 hours of his birth, we received his diagnosis of PA. Currently, Christian eats 11 grams of protein, drinks Propimex-2, and take vitamins daily. We always seem to end up in the hospital during flu season, but other than that Christian has been a very happy and healthy little boy meeting all of his milestones.
Past story – Christian – age 3
Christian, also known as CJ, is a three year old dancing machine. He loves to listen to music and have dance parties in our kitchen and basement. He is the life of the party and always making people smile. CJ attend preschool twice a week and is also involved in soccer and gymnastics. At home, he loves to follow his older sister around and try to play whatever she is playing. His superhero toys are often battling Barbies. Like most other three year olds, CJ loves cars, trucks, and his favorite television show is Paw Patrol.
Maya M. – updated February 2019
Maya is a nine-year old sweetheart. She loves watching YouTube videos and making her own videos for her MayaTV channel. Maya loves to make slime and listen to music on her iPod. She also likes traveling and going on vacation with her family. Maya is in third grade and loves reading, writing in cursive, and solving multiplication problems. She joined her Service Learning Club at school and participates in gymnastics, magic classes, tennis, drama, and horseback riding through the park district.
Maya was diagnosed with Propionic Acidemia after coming home from the hospital. We were fortunate to have a quick diagnosis through the newborn prescreening and avoided any metabolic crisis. Maya consumes 13 grams of protein by mouth daily. She drinks Propimex-2 and takes vitamins. Overall, Maya is a happy and healthy little girl who makes everyone smile with her humorous personality.
Maya – 7 years old
Maya is a seven year old, energetic, and hilarious little girl. She is currently in first grade where her favorite subjects are computer class and gym class. Maya loves to travel. Her favorite travel locations are anything involving a beach and sunshine. She spends basically her whole summer at her grandparents’ Yogi Bear campground. She loves “driving the golf cart”, swimming, fishing, and trying to catch frogs. Maya loves to try all activities. She has been involved in ballet, hip hop and tap classes. She has been in Lego club, Mad Scientist club, Cooking club, and Art club. She has also tried gymnastics and theater. Maya’s favorite hobbies include making videos of herself and playing with all of her baby dolls.
Maya was diagnosed with Propionic Acidemia through her newborn prescreening. With early detection, we were able to avoid any major crisis. Currently Maya consumes 13 grams of protein by mouth and drinks Propimex-2 daily. She is not a big fan of all her doctor’s appointments, but understands she needs them to stay healthy.
Scarlett Camille 4/5/2006-11/21/09
The most wonderful thing in the world happened on April 5th, 2006 … you were born….Scarlett Camille.
There’s so many things you brought to my life, endless wonders, incredible sweetness, such a tiny little miracle child, unforgettable moments, joy that grew and grew, more love than you could ever dream possible!
I will never forget your strength and courage, and I will be forever proud to have had such a darling daughter.
Although your time here was short, you filled my heart with a lifetime of memories.
What a treasure, a touch of heaven here on earth.
Mommy’s little angel…
Awaiting the touch of a little hand and a smile from a little face.
Love you Bunny Bunny Bunny*
Reprinted from Autumn 2010 Newsletter
Article from Spring 2013 Newsletter
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.
|Gwen M. – updated May 2015|
|My beautiful girl just turned 9 years old this year and it seems nothing short of a miracle. At 2 days of age, Gwen became catastrophically ill, her body temperature dropped below 90 degrees, ammonia level exceeded 1,500 umol/L and she stopped breathing. She was placed on a ventilator and received peritoneal dialysis for a couple of days until she came out of her coma and was breathing on her own. On her 3rd day she was diagnosed Propionic Acidemia and her future was very uncertain. During Gwen’s first 3 years of life she spent as much time in the hospital as she did at home. Although she’s been admitted more than 50 times, she’s undoubtedly one of the happiest people on Earth. At age 1 she stopped eating by mouth, and since then she’s been fed 100% by a feeding tube because she refuses to eat anything. For many years she wore a backpack to carry her feeding pump, but she is now able to tolerate her formula through small bolus feedings and has a nurse who cares for her during the day.Gwen knows she’s very cute and she plays that to her advantage. What she does not yet know is that she’s very brave, has an endless capacity to forgive, an amazing will to live, and a beautiful spirit from God that has touched the lives of hundreds. She talks non-stop, sings the entire time we’re in the car, jumps off of anything she can climb on, loves to dance, play with her American Girl dolls and spend time with her brother and friends. She’s in second grade and receives special education services for PT, OT, math and reading. She’s also in Brownies and on the Special Olympics swim team! She is a miracle, a daily blessing, and a ray of sunshine in any room. I am grateful for every day I have with her and so proud to be her mom.
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, & friends. 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!!!!