Lucy H. – updated Fall 2016

My name is Lucy And I have PA.  I am 18 years old and graduated High School in May. I also have: Autism, Aspergers, Prolong QT Syndrome, and some intellectual disability. All of these things make some parts of my life difficult for me to handle. Sometimes when I have to go through certain things like my health problems it can get a little stressful for me.  However I am so happy that even though I am the only person in my family who has special needs what so ever, my family and all my cousins love me a lot anyways and they love having me around.  Now I want to tell you a little bit about my family. Besides my parents I have: two siblings, a dog and two cats.

Out of everything I do for Physical activity my favorite would definitely have to be Ballet Dancing. I started doing Ballet at the age of 3.  . I am now in a Special Needs dance class.

In July 2015 my mom and I traveled with my cheer team to Los Angeles for the Special Olympics world games. We cheered for athletes at lots of the sports events and we got to perform our routines. We became celebrities, we were on the news, people stopped us everywhere for pictures and autographs. It felt really cool to be famous. I also did Rhythmic Gymnastics for a couple years for Special Olympics as well, and I won lots of gold metals.  I also do a Special Needs beauty pageant every year in April. In 2014 I won the whole pageant and I got crowned as: Young Ms. Fabulous. I got to ride on a float in the Christmas parade downtown that year in December. I was freezing!!!!! However I thought that was really super cool.!, because I had never done anything like that before.

I have a collection of 24 American girl dolls. I still play with them constantly when I am not at school, and its my favorite hobby. When I play with them it relieves a lot of my stress. In middle school people made fun of me for playing with them at my age, but now I just over look those people, because its what makes me happy. My favorite thing to do with them is brush out and style their hair. Especially with braids.

As far as school goes I am really good at math. I have taken in high school Algebra and Geometry. I was definitely better at algebra. I was in a resource Special Ed. English class, because I can’t comprehend that well when I read. I can read very well, but I can still only comprehend at about a 3rd or 4th grade level, so I choose to often read those books so that I can actually enjoy the story.

When I was a Junior I went to my school prom for the first time. I took my friend Niki to the prom with me because I didn’t want to go with a guy. When I went to prom it was not like I had imagined it being, but I thought it was so cool and I was overly excited to be going!!!! I danced that whole night constantly. But by 11:00 pm I was ready to drop and I fell fast asleep on the way home.

Some children & teenagers who have a disability don’t have very many friends or any at all. I consider myself lucky because I have a whole lot of friends. And they have all been also very supportive of me having a disability and this health condition.

My Summary: The older I have gotten the more I have been able to do with taking care of myself and my diet. I can now make my own formula with supervision and I can do all of my own tube feedings. I only use my tube for my formula. The more we have learned about my daily values the more choices I have to eat regular food at school during lunch and when I am out with my friends. Some of the things that I eat are: apples, bananas, grapes, blueberries, raw tomatoes, carrots, broccoli, asparagus, green beans cooked mushrooms and onions, fried pickles, pickles, sweet potato soft pretzels, salad, macaroni and cheese, popcorn, crackers, pretzels, goldfish, fruit chews. Candy: mint chocolate, sour Patch, Jolly ranchers, suckers. My favorite food is Spaghetti. I am also able to keep track of all of my daily values using an app on my phone Myfitness. I get more independent all the time.

I graduated in May from high school. For my career I want to take care of as many children as I possibly can with all kinds of different special needs and disabilities. I want to help them learn and grow just like other normal children. To make this happen, I will be working with Vocational Rehab to explore future job possibilities and the further education I will need to do these jobs.

To sum it all up I have to face a lot of challenges in my life especially with learning because of my cognitive delays and learning disability. I always try to put forth all the effort I’ve got in everything I do. And in general I am a very caring and compassionate person. Everyone in my family and at school tells me all the time you are an extremely good friend. I think they are right about that. Having a disability makes it so that unfortunately I am a little less mature in some ways than other people my age. But sometimes I feel like that is what makes me who I am and also what makes me special. A lot of people have told me throughout my life in high school that I am a really strong girl. I really do try to be strong even when I don’t feel that way, but sometimes I have no other choice. I am a very smart and determined teenager. I am always determined to do whatever makes me most happy in life. The motto I have for myself is: “ You can do anything you want to as long as you stay strong and put your mind to it. With faith all things that you want to happen in life are possible you just have to believe in yourself.” I plan to use this quote for the rest of my life.

formula with supervision and I can do all of my own tube feedings. I only use my tube for my formula. The more we have learned about my daily values the more choices I have to eat regular food at school during lunch and when I am out with my friends. Some of the things that I eat are: apples, bananas, grapes, blueberries, raw tomatoes, carrots, broccoli, asparagus, green beans cooked mushrooms and onions, fried pickles, pickles, sweet potato soft pretzels, salad, macaroni and cheese, popcorn, crackers, pretzels, goldfish, fruit chews. Candy: mint chocolate, sour Patch, Jolly ranchers, suckers. My favorite food is Spaghetti. I am also able to keep track of all of my daily values using an app on my phone Myfitness. I get more independent all the time.

I graduated in May from high school. For my career I want to take care of as many children as I possibly can with all kinds of different special needs and disabilities. I want to help them learn and grow just like other normal children. To make this happen, I will be working with Vocational Rehab to explore future job possibilities and the further education I will need to do these jobs.

To sum it all up I have to face a lot of challenges in my life especially with learning because of my cognitive delays and learning disability. I always try to put forth all the effort I’ve got in everything I do. And in general I am a very caring and compassionate person. Everyone in my family and at school tells me all the time you are an extremely good friend. I think they are right about that. Having a disability makes it so that unfortunately I am a little less mature in some ways than other people my age. But sometimes I feel like that is what makes me who I am and also what makes me special. A lot of people have told me throughout my life in high school that I am a really strong girl. I really do try to be strong even when I don’t feel that way, but sometimes I have no other choice. I am a very smart and determined teenager. I am always determined to do whatever makes me most happy in life. The motto I have for myself is: “ You can do anything you want to as long as you stay strong and put your mind to it. With faith all things that you want to happen in life are possible you just have to believe in yourself.” I plan to use this quote for the rest of my life.  – Lucy

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Fall 2013

Hello friends,My name is Lucy and there are a lot of things that I do to contribute to this world even though I have Propionic Acidemia. There are lots of new things I just started doing this year and it has been unbelievable . It has created a whole new world for me.

I am 15 and a sophomore at HCHS in Lexington, KY. My favorite classes this year are child development and chorus. Last year my favorite class Algebra and I it was really hard for me but I still was able to get a b. This year I take biology, world civ, geometry and English. I have to have a teacher make sure I stay on task and sometimes write for me because I can’t write quick enough to keep up. We do a lot of homework and mom has to drink a lot of wine to get through it.I get help with making sure my tube feedings get done at school, I do them on my own but I still have an adult to make sure they get done on time. I take my lunch that mom and I decide on and measure at home. An adult makes sure I eat everything and if I eat something else, I call my mom to check and I bring home the package. At lunch you don’t have to sit with your specific class anymore and you can sit wherever you want. I like going to school because I get to see my friends everyday. There are some people that make fun of me and are never going to change. My fishy smell is a big issue. When people bully me I try to go to the principal or the counselor. They try to help but kids don?t always listen. Sometimes I get down in the dumps about this, but don’t want to talk about it because they will call me a snitch.

This year the most exciting thing was starting special Olympics cheer leading. This has opened up a whole new world for me because I made a bunch of new friends. It is a very good sport to do with friends because we work as a team. We went to competitions in Atlanta and here in Lexing-ton. We have the coolest makeup and this year we got new uni-forms with lots of sparkles. We have one of the most well known special Olympics cheer teams and were undefeated for 11 years. We have lots of people who can do flips and handsprings. I can do a forward and roll, an OK toe touch jump and I am working on a cartwheel but am trouble with my arm strength and straight legs. Cheersport competition in Atlanta was amazing. We won second out of 13 teams in the Special Needs Elite Division and I got a Cheersport jacket because it was my first year. I was so excited about being up on that stage with my team. I told my mom it was the best day of my life.

Even though I am 15 my favorite hobby is to play with my American girl dolls. I have 18. I also have been doing dance since I was 3. I go to a church dance program with my friend Anna, but this year I am going to stick to ballet and work with my elementary school dance teacher.It feels like I?ve been able to eat this well since birth now. I really love to eat. Some of the things I eat are chips, pretzels, crackers, goldfish, strawberries, pineapple, apple, grapes, bananas, blueberry, tomato, mushrooms, cooked onions, cooked cabbage, corn, carrots, broccoli, beans, peas, edemame, sweet potatoes, pizza, pasta, french fries and my dad and I go get Chi-nese once a week (veggies and rice for me). I also drink things like water, juice, milk, and sprite. I don’t drink my formula though because it tastes bad.

This year I was also in a Special Needs pageant where I won second in the talent part. I sang a song from a Bar-bie movie about friends and I sang acapella. I have a good voice and I like to sing. I went to Therapeutic camp this summer. I didn’t get to do Riding for Hope with the horse park this year because we were too busy with cheer. I was taking a tumbling class until I had to have surgery on my umbilical hernia and I will start that back soon. I took a musical theatre class at the Lexington Children’s Theatre one week this summer. It was called “Show your Wicked Side and we sang lots of songs from Wizard of Oz, Wicked, and The Wiz. I sang a solo part in Easy on down. After that we went to Chicago the first of August for a Special Olympics Gymnastics camp. It was great but really wore me out. Mom has been worried about me ever since we got back because I have been taking lots of naps. Dad says I need more exercise and they are making me take lots of walks and bike rides. The best part was I got to go to the American Girl store and have dinner.

I have a CLS worker who started in March. Her name is Miranda and she makes me do a lot of chores. We go to the grocery and she makes me estimate costs and choose which brand to get. I always get the cheapest. We exercise, cook, run errands, go to the library, do laundry, work on reading comprehension, go shopping at the mall and she makes me count out the money. We had a yard sale and I sold all my barbies so I could make money for Chicago. Miranda made me add up the sales and count out the change. Even though she makes me work I like her and we do fun things too like watch movies, have brunch with her niece, and get manicures. This sum-mer she helped me learn to wash my own hair. I figured out I could wear my goggles in the shower and the water wouldn’t get in my eyes. That is really great!I am back in school now and Cheer starts again next week. We are really busy with all this and mom says it wears her out, but it is fun!

That’s about all I have to tell for now.Love –Lucy

ps. I love to text and email so send me a message sometime.

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About Me:  Written by Lucy

My name is Lucy Caroline H.  I am eight years old.  I am a little girl who goes to Cassidy School.  I am in the second grade in Mrs. McCormick’s class.  I can read level two books; my favorites are Wings on Things, Junie B. Jones, and Hopscotch Hill books.  Even though I can read them very well I like them better when my mom or dad reads them to me.  My best skills at school are recess, 100% A+ Spelling Tests, and I am getting better with having green behavior cards (that means no arguing and talking back).

I go to Mrs. Kimball’s dance class on Monday’s and Thursday’s after school.  We learn how to do arabesques, kicks and sashays.  Last week we were in the variety show at my school.  We performed a dance to “It’s a Hard Knock Life” from Annie and all of us dressed up like orphans.

I have tube feedings but I like to eat too!  I like French fries, corn off the cob, asparagus, spaghetti with butter and salt, and most of all I love, love, love to cut up mushrooms, cook them with dad and eat them up.

I went to Disney this January with Make-A-Wish.  I got to dance with Minnie Mouse and the Princesses, ride The Tea Cups Carousel, Dumbo, the Magic Carpet and all the rides.  It was a wonderful trip.

I have two cats, one named Isabella and one named Samantha.  Samantha is a kitten and I got her for an early birthday present.  She is fun to play with and I try to remember to feed her.  I am looking forward to summer when I can go tubing and swimming in Grandaddy’s lake in South Carolina.  I love that!

About Lucy:  Written by Mom

What can I add about Lucy.  I can think of many words to describe her:  Determined, Talkative, Dramatic, Strong-Willed.  She has so much energy she wears me out with her determination.  I have to laugh sometimes when I remember thinking she might not talk.  This girl can talk your head off, and has a vocabulary beyond her eight years.  Lucy’s favorite thing to do is pretend.  She plays dress up, school, tea party, baby dolls, dance party, performs, sings, plays dollhouse, groovy girls, fashion pollys, barbies, pooh characters.  She is all girl!!!!!!

Lucy is maintaining normal cognitive skills at school.  We work really hard for this and do lots of repetition to help her with homework, extra help at school, tutoring, and therapies.  She has the most trouble with focus and things requiring this focus.  So far with repetition she is able to learn and every day it amazes me what she picks up that we haven’t worked on at all.  Socially she is a little immature.  She has trouble interacting appropriately with her peers, but we are working on this with social groups at school, coaching from teachers and us, playdates, social stories, etc.  We have seen progress in this area too, slow sometimes, then leaps.  I worry most that she won’t have friends because she can be so bossy or inappropriate with her peers.  We just have to keep working on this.  In a way I am glad she doesn’t care so much about what peers think, because they can be cruel sometimes, especially as she gets older.

She really loves her dance class and performing with the group.  This takes place as school and the teacher focuses a lot on team building and recognizing each others strengths.  It is a great way for the girls to get to know others in the school, not just the kids in her class.  Her school has been great.  She has an aid to do tube feedings and make sure she eats snack and lunch.  She also has some extra help with her work when she needs it.  Many of the teachers know how to do her tube feedings too.  I have been very happy with her care there.

She goes to church school weekly and this year she has her first communion which she seems to be pretty excited about.

Her Propionic Acidemia is in fairly good control as long as she is healthy.  We maintain strict diet intake, tube feeding and oral meals.  Lucy enjoys eating, which we work really hard for.  It is fun to take her to a restaurant and watch her order her “French fries with extra salt and a glass of water with a lid”.  She also likes spaghetti, spaghetti O’s, Saute’ mushrooms with garlic, tomatoes, asparagus, bananas, goldfish crackers, pretzels, garlic bread, waffles, butter sandwiches, the list goes on.  We check her blood amino acids and urine organics about twice a year now, unless she is sick.  Her growth is stable.  She is a big girl:  about 79 lbs, about 53 inches tall.

Lucy takes Atenolol daily for her Prolonged QT Syndrome which was diagnosed in December 2004.  She also has a leg length difference which effects her balance.  We monitor that through Shriner’s orthapedics and she wears a lift on her left shoe to help.  We are not quite sure what will happen with that as she grows, we just have to wait and see had bad the difference gets.

Just like normal families with kids we are busy.  School, play dates, homework, work for mom and dad, and the pa extras thrown in.  Lucy and I battle a lot, the mommy – daughter thing at its best.  Many days I feel like I am talking to a teenager already the way she argues with me over almost everything.  I definitely need my glass of wine every evening to get me through homework time. I am not kidding!!!!!  After all it is my job to take care of her and often that means being the bad guy, but I am a good mommy, whether she likes it or not.  HA!

Carson A.

We adopted Carson at birth and we have been blessed ever since. He’s the most amazing little boy! Carson is so silly and makes us laugh all the time.  Carson has a 16 year old sister and a 19 month old brother. He is a very happy little boy, is extremely active and he enjoys music a lot.  It’s amazing how much rhythm he has at such a young age. We think he will probably be a famous musician some day.

Carson will be Three years old on June 15th 2006. He was diagnosed with PA at three weeks of age by Doctor Jose Abdenur at Children’s hospital of Orange in California. We live in Laguna Niguel, California. Carson is doing very well. He is about 9months delayed in speech and cognitive. Physically he is only a little delayed because of low muscle tone but seems to keep up pretty well.  He stopped eating around 9 months old and has been eating strictly by G-Tube ever since. He will put some food in his mouth and suck on it but never really swallows anything. He likes primarily salty things. He drinks water from a bottle and we have just graduated to a sippy cup. He currently weighs 36 lbs and is 37 in. tall. His diet consists of 126 grms. Propimex-1, and 102 grms of Similac to a total volume of 30 oz. He receives 21 oz. by bolas feed during the day and the rest at night with the pump. His medications are Carnitine-6 mls 3 xs per day, sodium benzoate-4 grms per day, Flagil-1.6 mgs 2x per day, and Prilosec 3.5 mgs 2 x’s per day. Carson receives two hours per week of OT therapy and two hours a week of speech therapy. Carson has low muscle tone, but it is not severe. We see Dr. Abdenur every two months and we have all his Aminos and Carnitine and Amonia levels checked. We work with a wonderful dietician and we change his formula according to his body weight and his labs.   We Love our Doctor and can’t imagine where we would be without his dedication and Love to Carson. We know that we are so lucky to have him.

We would love to communicate with anyone. Here is our e-mail.

Our E-Mail is [email protected]

Grace-Marie was born on November 14, 2007 a day before her dad’s birthday. It was truly amazing. Her dad and my oldest son were there to coach me on while bringing Grace-Marie into this world. She was born at 7:30 a.m. 5 lbs. 2 oz.. I was so happy to finally see her for the first time. That’s when it first started Grace’s heart beat was going really fast so they wanted to check her out really good before I could hold her. The morning turned to night and I still could not see Grace.  Grace would not eat so they wanted to watch her in the NIC (Neonatal Intensive Care) over night.  One day turned into seven in the NIC. Grace began to eat a little but was not very responsive to touch. She also began to not keep what she ate down, therefore she was becoming very lethargic.

No one knew what was wrong the doctors had not a clue, they kept waiting for things to change running different test and so forth. By the ninth day Grace-Marie was transfered to a new hospital the UCLA NIC  unit. I continued to pray as I listened to the doctors tell me she would not move and they needed to get her somewhere, where the doctors knew more about helping Grace. Grace was not breathing on her own by this time and she stopped holding my hand.

Once at UCLA the doctors just wanted to stabilize Grace. They wanted to track down her new born screening test with the hopes of finding information to formulate a treatment plan. The trouble with that was it was a Saturday and most places were closed. Grace’s dad and I were lucky that we had a doctor on staff that could get in touch with someone to get the results.  Grace condition was really bad and they were not sure if she was going to make it. Once they received the results cretin things began to get ruled out.

The doctor met with us and explained to us that Grace had a rare metabolic disorder and they were trying to narrow it between two that were in question. They wanted to start her on a dialysis right away to get the toxins out of her blood. The problem was they were not sure if it was going to work because she was so small. They took us into Grace and explained everything they were about to do. They had to place a small catheter in the side of her tiny neck. When I saw her laying there I felt so helpless and hopeless. I pulled together all the strength I had and decided that if this was the road I was dealt, I was going to have to take it and be strong for Grace.

Propionic Acidemia is what Grace was diagnosed with.

The two and half years of Grace’s life has been full of doctor appointments and emergency room visits.  Some that have left me devastated. And other time the visits have adverted a crisis. These visit have given her a boost of energy so that she remains stable. Most of the time I spend praying and educating myself on the disorder.

Grace was so dehydrated one time that they could not find a vain anywhere. They had to go into a bone in her leg. Yes, they had to drill a hole in her leg to access the point they needed. Well it did not go so well the first drill did not work so they had to try again on her other leg. Three long hours to get an IV started. Grace was beginning to decompose more and more and slowly slipping away from us. Well we made it through with God’s Grace, that was a two week stay in the hospital.

The next month we got a permanent port placed for Grace. Grace now gets her blood drawn through her port and also all of her IV fluids when she is unstable.

Grace is on a special diet to help her remain stable and receive all of the nutrients needed to grow. Then she all of a sudden did not want to eat anymore or drink anything. The doctors decided that a G-tube was needed to help her to remain stable and to continue to grow. We still have doctor visits once a month to flush her port and every three months to discuss her growth and diet with the genetics doctor. The common cold drives us crazy and keep us on our toes.

Grace has physical therapy, speech therapy, occupational therapy, infant stimulation, and feeding therapy threw out the week which keeps me pretty busy.

Sometimes it’s really hard.  Most of the time I try to be thankful for every moment with her. Grace is one of the greats joys in my life.

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updated 8/28/18

Grace-Marie was born on November 14, 2007 a day before her dad’s birthday.

She was born at 7:30 a.m. 5 lbs. 2 oz. I was so happy to finally see her for the first time.  That’s when it first started Grace’s heart beat was going really fast so they wanted to check her out really good before I could hold her.  The morning turned to night and I still could not see Grace.  Grace would not eat so they wanted to watch her in the NIC (Neonatal Intensive Care) over night.  One day turned into seven in the NIC.  Grace began to eat a little but was not very responsive to touch.  She also began to not keep any milk down therefore she was becoming very lethargic. Day by day Grace was slipping away. She was transferred to UCLA where she could be cared for better. It was at UCLA that her New Born Screening revealed she had Propionic Acidemia. The doctors explained to us that it is a rare metabolic disorder.

For the first two and half years of Grace’s life was full of doctor appointments and emergency room visits.  Some that left me pretty devastated, Grace received a permanent port so that she could have blood draws and kept it for the next six years. It was magical and helped out a lot whenever she was unstable, she also had a G-Tube placed so she can receive her special diet to help her remain stable and receive all of the nutrients she needs to grow. Grace is ten now almost eleven we continue to take it day by day some good and some not so. Grace continues to have physical, speech, occupational and behavioral therapy throughout the week, which keeps us busy along with a full day of school. What I have learned the most so far from this experience is to be as present as I can, that way I can learn as much as I can on this journey one day at a time.

Grace is one of the great joys in our life

Our oldest daughter, Justine, also a healthy child had been diagnosed with the same condition 20 years earlier when she was six years old. At that time the doctors told us they believed a virus attacked her heart. They could find no other cause and said this sometimes happens. There was nothing they could do for her. The subject of transplant was brought up, but quickly dismissed. Medical technology didn’t make this a realistic option 20 years ago. Within seven months she died.  We had no other children at the time, but we were assured this should not be a concern for any future children we may have.

Two years later Latreace was born, and then three years after that we had Logan. Both were healthy and routine wellness visits to their pediatrician never indicated there was any cause for concern.

This was not supposed to happen again! Why? Within the next couple weeks of April 2005 we were question by doctors trying to figure out what the connection was between Justine’s and Logan’s heart condition. We also found medical advancements had made treatment much different. Within two days, Logan was listed for a heart transplant. But his condition was deteriorating quickly and he needed to have surgery to put him on a left ventricular assist device (LVAD) to support him while he waiting for transplant. Surgery went fine, but over the next few days we realized something was wrong. Logan was in status with subclinical seizures and not waking up. He had no previous history of seizures.  Now neurologists were consulted. They could not control his seizures with standard mediation techniques and as an only option decided to try putting him in a deep drug induced coma. They started sending blood, muscle, skin and spinal fluid specimens for testing to laboratories throughout the country.  Our daughter, Latreace, was also tested. She was fine. Some of the initial results pointed to the direction of some type of metabolic disorder, but we were told it would take months to know exactly what we were dealing with. In the mean time, while Logan was still in a coma, genetics was called in. They recommended starting Logan on a “cocktail” of supplements that would be beneficial to someone with his suspected range of disorders. Finally after a month, something worked. Logan was awake without seizures. Now he required intense physical therapy to get his body strong enough to be re-activated for transplant. June 18, 2005 the day came. This surgery went remarkably well and a week later we received the lab results we had been waiting for:  Propionic Acidemia (PA).  Logan had an elevated C3 level in an acylcarnitine profile, and his urine tests showed chemicals that suggested it was PA. I had no idea what this was, but spent several weeks searching for information. Logan just didn’t seem to fit. He had never been sick as a baby or child like these other unfortunate children I was learning about. I was told Logan has a mild (late onset) case. I felt I should be thankful, but was rather puzzled by what a “mild” case was capable of.  Skin and heart muscle were sent away for enzyme analysis for propionyl CoA carboxylase that showed he has 4% enzyme activity. While his enzyme activity is low, most children that are sick as newborns have 0% activity, which is likely why he is “mild” and didn’t have any symptoms until his cardiomyopathy appeared as a teenager.

Logan left the hospital a month after his transplant and with the help of tutors was able to catch up on his studies and complete high school with his class. In many ways Logan has been a normal teenager. He does have many doctor appointments with cardiology, neurology and genetics and takes many medications and supplements, but he had been doing well. He has been attending Tech school and shared an apartment with several roommates.

Unfortunately, on January 30, 2009 Logan was admitted to the hospital again. He is now dealing with severe rejection and is in need of another heart transplant and possible kidney transplant due to poor profusion. He again is being supported by a ventricular assist device (BIVAD), dialysis and a tracheotomy. He is not healthy and strong enough to be listed for re-transplant yet, but we are hoping he will be soon. Genetics continues to be consulted to determine how his metabolic disorder plays a role in his symptoms and treatments.

In the last several years our family’s DNA mutation have been tested.  It was confirmed that Logan’s father and I are both carriers of PA, and our daughter Latreace is also a carrier. I am sure there are other cases like Logan’s and I often wonder if Logan’s condition could have been prevented if he was diagnosed and treated early in life. Newborn screening for propionic acidemia is now done in most states in the US, but it is unknown whether infants with mild PA will be detected and treated to prevent sudden cardiomyopathy.

Special thanks to Amy White, MS, CGC for assistance in preparing Logan’s story, and thanks to the entire talented and dedicated staff at Children’s Hospital of Wisconsin, Milwaukee.

Debra L

Logan (19) PA

On July 20, 2009, Logan received a new heart.

On August 27, 2009, Logan chose to be in a better place. His battle was long but his love for life will always persist. Logan is an inspiration to us all.

A challenging medical journey and a full loving life.

Her faith, courage and strength are an inspiration.

May her memory be eternal.

October 20, 2008-July 30, 2015

Our daughter Angelica had her first ‘metabolic crisis’ at three days old.  Within twenty-four hours of bringing her home from the hospital after birth, she had become so lethargic and unresponsive that we had no choice but to contact the nurse on call, who instructed us to immediately call an ambulance.  The staff in the emergency room (thankfully, we live less than ten minutes away from the fantastic resources of the University of Michigan Hospital) were able to stabilize her to a degree, but were very troubled by her ammonia levels and other test results, though they did not know the cause at that time.  A conclusive diagnosis of PA was reached by the following day, and after another harrowing four days in intensive care undergoing hemodialysis she was moved to a moderate care wing.  We were able to return home about a week after that, once she had regained enough strength, and more importantly, her appetite.

Now she is a little over four months old, and while there have certainly been bumps in the road, it does not seem like we could have asked for a much better situation.  She has an incredibly hearty appetite for her special formula (“power milk”) and is the sweetest, happiest, most easy going kid you could ever hope to see, and has even been letting her mom and dad sleep through the night, pretty much since we came home!  She is tough (and stubborn) as well, having survived intensive dialysis at such a young age and showing no signs of damage from the ordeal.

The pediatric genetics staff at the UM Mott Children’s Hospital are a great resource, and having them so close at hand is an incredible luxury that we definitely don’t take for granted.  We are also blessed with a very competent and understanding daycare provider–they take everything in stride, whether it is diluting formula as needed, providing medications, or even ketone testing.  With everything we have at our disposal, the inevitable problems we are going to encounter do not seem nearly as daunting as they once did.

Best Regards,  Joe and Toula

July 24, 2001 – April 23, 2012

Nicks buoyant  attitude and gentle

tenacity taught his family and friends how to love selflessly and carry on through hardships. 

His example will be a guide and comfort to those grieving his loss. 

He was a devoted aquarium enthusiast and played baseball with the Rivermont Dream League.

He loved the River Park, his collection of movies and books (especially Cars), horses and his dog Buster.

Click below to sign his guest book and

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But after that day, my wife got nightmares nearly every night. I have to say, I began to believe the saying of mother-daughter-one-heart. After one week, we decided to do some more professional tests to confirm the situation. About one months later, all the results reflected that Cindy do have PA, which is PCCB in subtype. The result shocked us, and even the doctor. She said she never see a PA baby in such a good condition during her career. Then we began to give her special diet with XMTVI Analog formula and SigmaTau L-carnitine. In the beginning we know little about PA, so we cut off every milk including her mother’s milk. What a pity baby and stupid parent!

I want to say I am fortunate again, thanks the God. We then met a professional doctor who told us how to feed Cindy. Before that we suffered a lot, even Cindy had to be sent to PICU once when she was 1year old. After that, Cindy began to sit, walk, talk at normal age. But then, things became worse, the XMTVI Analog was forbidden to sale on Mainland China. We have to change into another formula, OA1, which is difficult to buy in China. During the period, I joined in to an PA organization in China. We talked a lot there and learned a lot from each other. There are totally about 134 parents with PA or MMAW kids. The organization is really awesome! And as you all know, as most of  PA kid, now Cindy begins to dislike the formula and her food, she wants to eat meat. She is now still in the hospital for the past 20 days eating less. So I want to change her diet according to my self’s knowledge, for we cannot get more suggestions from our doctors any more. I will add more formula with little protein but high energy and other minerals.

Now I am in the USA to do a co-research program leaving my family in China. One of the reasons why I choose to come here from such a long way and in such a critical time for my family is that I want to learn something about PA here in the USA

Talli is seemingly always on the go, when she isn’t she wants to know what the plans are for after school and the weekend. She loves to go to school and hates missing class if she is sick or has an appointment. She can’t stop talking about an upcoming trip to see her grandparents in Oregon and a sleep-away camp with the teenage girls from our Church over the summer. She loves technology, music, and live performances. We have had to put on parental controls on her tablet just like her typical peers have. She got braces on just after her birthday in the fall.

She is in the 7th grade at our local Junior High School.  She is in an Instructional class for her core classes and is mainstreamed for PE, science, choir, and a period that rotates between art, technology/engineering, sewing, and cooking. This year she was on the school’s 7th grade cheerleading squad and she just excelled! She attended practice every day and then came home and practiced some more.  She is very excited for next season.

Overtime, new health challenges have some up and she now has some complicated treatments. She was fortunately newborn screened; we found out a week after she was born. She was already in crisis at the time and took several weeks to stabilize her in the NICU.  The biggest challenge at that time in keeping her stable was severe food allergies and reflux. She vomited every feeding! Thankfully, she has outgrown some of her food allergies, however, tree nuts and latex can affect her by just being around them.

She had frequent infections and was hospitalized every couple weeks when she was an infant and toddler.  After starting IV immunoglobulins (IVIG), she had a significant reduction in the number of illnesses and hospitalizations.  She has had sepsis several times, one of those times infecting her hip which required surgery.  She has a significant Long QTc wave and had an internal defibrillator placed when she was in the 2nd grade.  She also has hypothyroidism and was recently diagnosed with growth hormone deficiency, so takes daily growth hormone injections.

After many years of going to the hospital for IVIG infusions, she will be starting weekly subcutaneous at home.  This will keep her better protected from infections, but also free up her (and our) schedule and cause fewer side effects.  She had received IVIG at our local hospital which has a Pediatric Critical Care Unit because of poor tolerance to it.

Eating always seems to be a concern for newly diagnosed families. Talli eats inconsistently. We think that a lot of it has to do with her severe food allergies. She had a g-tube placed when she was 6 months old as she was failure to thrive.  Her growth only improved once all of her allergens were removed from her diet and her esophagus was allowed to heal (she had erosive esophagitis).  She eats a lot more when she can have whatever she is craving at the time (right now it is Taco Bell) and when she is around her friends.  She consistently eats about a third of her calories by mouth.  She is learning to weigh her food and typically does her own feedings at school, if they are needed, with her nurse supervising her.  She is also learning to read labels for her allergens and protein content. Update May 2015

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Talli is a thrilled-seeking social butterfly.

She will turn 8 years old in October and she is just finishing up the 1st grade. She is mainstreamed in our local elementary school with resource support, speech and OT.  She participates in jazz and ballet and Daisy Scouts. She LOVES to build with Legos, take things apart, play with her friends, and visit Disney World.  Her favorite rides are the Tower of Terror, Splash Mountain, Space Mountain and Journey to Atlantis at Sea World.

She was diagnosed with Propionic Acidemia from newborn screening, although she was well into her first crisis situation when we received the results of her testing. She spent nearly a month at CHoP to stabilize her and get her diet just right.  She has had over 20 hospitalizations because of illness. For the past 3 years, she has had received IV immuglobulins every four weeks.

She is unable to have the infusion run quickly, so she always has an overnight stay in the hospital.  We attempted to have her use a port-a-cath, but after a year of no problems she had two episodes of sepsis, the last one being fungal and bacterial.  She has other health challenges that have made it difficult to keep her stable all of the time and also just adds to her complexity.  She has Long QT Syndrome, hypothyroidism, allergies, asthma, esophagitis, GERD, secondary immunodeficiency, and occasionally, she has neutropenia, low platelets, and anemia.  She has a history of sleep apnea, is on her 4th set of ear tubes, has had her tonsils removed once and her adenoids twice.