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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, & 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!!!!

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, Illinois. Dr. 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 had caused his rectum to fail.  His ears and sinuses were chronically infected.   Louie was expected to remain an infant the rest of his life.   His muscles and bones were so weak, nobody ever expected him to learn to walk.   He was not expected to live to age 5.

Today Louie is a 12 year old boy with the body of a small 8 year old (He is 47 inches tall and weighs 42 pounds.)   Mentally he is a mischievous two-year old.

When he is healthy, Louie enjoys life.  He can walk, climb, and ride a tricycle.  He loves playing basketball, going for rides with Alma on her John Deere Gator, and going to school.   He enjoys music and has his own guitar he likes to play.   He shows off to get attention.  He has a sense of humor and laughs a lot.    He is full of love.   He enjoys giving and receiving hugs.  As any normal “two year-old”, his favorite people are his “Mama” and “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.