| 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!!!! |
Category Archives: Noticias & Noticias
Toures Family
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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 |
Toures FamilyEilidh
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Leah M.
 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 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. |
Louie
| Louie |
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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” y “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. |
Cadence
| Historias de familia |
Cadence “Cady,,en,PAG,,en,Mi cadencia dulce nació el sábado,,en,A.M,,en,Fue un largo,,en,trabajos forzados para los dos,,en,y ella tenía un poco de problemas para la transición,,en,Ella fue enviada al hospital de WVU niños en esas primeras horas,,en,para la observación,,en,y volvió a casa para mí,,en,aún se recupera de la cesárea que le consiguió aquí,,en,Unos días más tarde,,en,No llegué a mantener este niño de ojos azules preciosos hasta que estuvo,,en,pero una vez que lo hice,,en,Me prometí nada nos separaría de nuevo,,en,Dos semanas después,,en,PA mostrado su lado oscuro y se envía de nuevo a la cadencia de WVU,,en,Estos fueron momentos desgarradora,,en,nadie el cuidado de Cady había visto nunca nada igual,,en,y fue un tiempo muy largo antes de que nos dimos cuenta de lo que estábamos tratando con,,en,Me acababa de graduar con dos grados de la universidad, literalmente, dos semanas antes de Cady nació,,en” P – June 15, 1996- January 31, 2017 
 My sweet Cadence was born on Saturday, June 15, 1996 at 12:39 AM. It was a long, hard labor for both of us, and she had a little trouble transitioning. She was sent to WVU Children’s hospital in those first hours, for observation, and came back home to me (still recovering from the cesarean that got her here) a few days later. I did not get to hold this precious blue eyed child until she was 4 days old, but once I did, I vowed nothing would separate us again. Two weeks later, PA reared its ugly head and sent Cadence back to WVU for 32 days. These were harrowing times, no one caring for Cady had ever seen anything like it, and it was a very long time before we realized what we were dealing with. I had just graduated with dual degrees from college literally two weeks before Cady was born, y mi fuerza sólo pasó a ser en química orgánica,,en,La curva de aprendizaje para el cuidado Cady y la comprensión de su enfermedad era empinada,,en,pero mi experiencia me permitió entender profundamente y asumir su cuidado,,en,A través de los años,,en,a pesar PA,,en,Cadencia tuvo una vida muy plena y feliz,,en,Me negué a dejar que este monstruo robar un segundo de nuestras vidas y estaba decidido a dar Cady todo en mi poder para garantizar una vida maravillosa para ella,,en,Le encantaba viajar,,en,ella ha sido, literalmente, desde la costa este a la costa oeste de los Estados Unidos,,en,Ella tenía más amigos de lo que puede ser contado,,en,Ella se rió y jugó cada minuto de su vida,,en,Estaba tan llena de alegría y risas,,en,Durante la última semana de enero,,en,el vientre de la cadencia comenzó a doler y no tenía problemas para tener movimientos intestinales,,en. The learning curve caring for Cady and understanding her disease was steep, but my background allowed me to understand it deeply and assume her care. Over the years, despite PA, Cadence had a very full and happy life. I refused to let this monster steal a second of our lives and was determined to give Cady everything within my power to ensure a wonderful life for her. She loved to travel, she has literally been from the East Coast to the West Coast of the United States. She had more friends than can be counted. She laughed and played every waking minute of her life. She was so full of joy and laughter. Over the last weekend of January, Cadence’s belly began to hurt and she had trouble having bowel movements. El íleo era común para Cady y que había resistido varios en los últimos años,,en,Ella fue la gestión de Sábado,,en,pero algo cambió Domingo,,en,Su dolor se hizo más molesto con ella,,en,y ella pidió ir al hospital,,en,Siempre supo cuando llegó la hora,,en,Una vez en el ER locales,,en,íleo fue visto en la radiografía y una sonda NG se colocó para aliviar la presión en su estómago,,en,Ella se alivió de inmediato,,en,y fue una vez más sonriente y feliz,,en,Ella fue cargado en una ambulancia para el transporte de WVU para la observación,,en,Esa fue la última vez que vería su sonrisa,,en,Dos horas despues,,en,a su llegada al WVU,,en,Cadencia estrellado y tuvo que ser trasladado a una cirugía de emergencia,,en,Los cirujanos no descubrió un íleo,,en,sino un volvulous,,en,donde los giros intestinales y corta el suministro de sangre al intestino,,en,sin sangre,,en,sus entrañas comenzó a morir,,en. She was managing Saturday, but something changed Sunday. Her pain became more distracting to her, and she asked to go to the hospital. She always knew when it was time. Once at the local ER, ileus was seen on xray and an NG tube was placed to relieve the pressure on her stomach. She was immediately relieved, and was once again smiling and happy. She was loaded into an ambulance for transport to WVU for observation. That was the last time I’d see her smile.
 Two hours later, upon arrival at WVU, Cadence crashed and had to be rushed to emergency surgery. Surgeons discovered not an ileus, but a volvulous, where the bowel twists and cuts off the blood supply to the gut. Without blood, her gut began to die off, y cirujanos quitan,,en,pulgadas de intestino tratando de salvarla,,en,Durante las próximas horas,,en,que pendía de un hilo,,en,pero la cadencia era tan fuerte,,en,que en realidad fue la gestión para obtener una mejor,,en,En el final,,en,la sepsis demostró ser demasiado,,en,ella nunca recuperó su presión arterial,,en,y que vamos a una mayor muerte de su tripa,,en,Nos dieron la opción de detener estas medidas extraordinarias y darle un paso pacífico,,en,Mientras estaba de pie a los pies de la cama de Cady,,en,frotando sus pies,,en,porque eso es todo lo que siempre quiso cuando ella no se sentía bien,,en,el resto del mundo se escapó y fue una vez más, solo ella y yo,,en,Cerré los ojos mientras sostenía sus pies y escuchó a su corazón decirle a mi corazón,,en,mamá,,en,Yo sólo quiero jugar,,en,No quiero seguir haciendo esto.,,en,Y entonces,,en,como el último acto como su defensor,,en 8-10 inches of bowel trying to save her. Over the next few hours, it was touch and go, but Cadence was so strong, she actually was managing to get better. In the end, sin embargo, the sepsis proved to be too much, she never regained her blood pressure, and that let to further death of her gut. We were given the option to stop these extraordinary measures and give her a peaceful passing. As I stood at the foot of Cady’s bed, rubbing her feet (because that’s all she ever wanted when she didn’t feel good), the rest of the world slipped away and it was once again just she and I. I closed my eyes as I held her feet and listened to her heart tell my heart, “No, Mommy. I just want to play. I don’t want to do this anymore.” And so, as the last act as her advocate, como su protector y la madre,,en,Le di lo que quería,,en,y la llevó de vuelta a su creador,,en,Dejamos de los goteos y en pocos minutos,,en,su corazón se detuvo,,en,horas del martes,,en,mi dulce cadencia le echó los brazos alrededor del cuello de su Creador y se rió en la alegría absoluta,,en,No más g-tubos,,en,no más náuseas,,en,no más dolores de vientre,,en,no más la fatiga,,en,Cadencia ahora sólo se conoce la alegría y mi corazón canta a conocer esta,,en,Nunca hice nada tan grande como para merecer el don que Dios concedió a mí por dármela,,en,Ella era una bendición de principio a fin,,en,y sigue siendo tan,,en, I gave her what she wanted, and returned her to her Creator. We stopped the drips and in just a few minutes, her heart stopped. At 3:35 pm on Tuesday, January 31, 2017, my sweet Cadence threw her arms around her Creator’s neck and laughed in utter joy. No more g-tubes, no more nausea, no more belly aches, no more fatigue. Cadence now only knows joy and my heart sings to know this. I never did anything so grand as to deserve the gift that God bestowed on me by giving her to me. She was a blessing from beginning to end, and continues to be so. ————————————————————————————————————————–
PAF Fall 2016 Hoja informativa
No estoy seguro de por dónde empezar con esta actualización, parece que Cady
ha sido por siempre,
 que esta vida ha estado sucediendo desde el principio de los tiempos, y sin embargo, no puedo creer que esté 43 y Cady ha golpeado 20 años.. De nuevo en 1996 cuando ella nacio, Me dijeron que no iba a ver a dos meses, sin hablar de 20 years. Aquellos tiempos, viva, ya que son, parecen tan lejos. Y todavía, ¿Cómo podrían haber pasado dos décadas?Para aquellos que son nuevos en el PAF (al menos desde la última actualización) Voy a recapitular desde el principio. Cadence nació de junio 15, 1996 en un pequeño hospital aquí en el norte de Virginia Occidental. Todo parecía ir bien las dos primeras semanas, hasta que un día Cady no se despertaba para mí. Me llevó de inmediato a la sala de emergencias local y las cosas sólo se hizo más graves desde allí. Ella fue enviada al Hospital de Niños de WVU, pero con una advertencia bastante claro que no iba a hacer que la hora y media de viaje. Bien, ella lo hizo, pero las cosas siguen siendo bastante mal por un rato. Ese verano que pasamos 32 días en habitaciones de niños, mucho de ese tiempo de estar en la cuerda floja de si ella haría él para ver otro día. El suyo fue el primer caso de este tipo que habían visto en WVU, y el personal médico no había sacado todas las paradas para mantenerla con vida. After 32 days, sabíamos lo que estábamos en estadio, Si no es así, que la enfermedad se trataba de, y ella era lo suficientemente estable como para volver a casa. Durante el tiempo que los 32 days, fibroblastos se cultivaron y se envían de distancia para el ensayo. El resultado volvió después de Cady fue el hogar de unas dos semanas.. Tenía acidemia propiónica. Ella fue el primer niño que ha nacido en Virginia Occidental para sobrevivir a un diagnóstico. Para este día, 20 years later, ella sigue siendo el único superviviente nato aquí.
Las cosas eran un poco Woogy durante los dos primeros años, pero se estabilizó y nos llevó una vida bastante tranquilo hasta que estuvo 12 years old. Luego, en el verano de 2008, se puso enferma y las reglas pareció cambiar. No teníamos ni idea de por qué se mantuvo descompensadoras. a
 ok lo que parecía ser siempre encontrar la manera de tratar estas descompensaciones. Durante el invierno de 2009, ella espiral tan mal que realmente parecía que la perdería. Lo hizo a través de ese episodio, pero perdió la mayoría de su audiencia a las oscilaciones salvajes de electrolitos y química sanguínea loca. Finalmente, su especialista GI consiguió la inició en un régimen flagyl y que parecía ayudar. No se detuvo a los descompensaciones, pero parecía que luchar contra ellos un poco hacia atrás.En 2012, Cady se convirtió en la red del milagro de los Niños Campeón del niño que representa el estado de West Virginia. Fue un año de mucho trabajo, con muchos altibajos. Ese fue el año en que se volvió 16, y también el tiempo sus médicos decidieron buscar a su crecimiento. Ellos hicieron un estudio de la edad ósea y por lo 16 years old, huesos de Cady se envejecieron a 144 months (exactly 12 years). Sus placas no se habían cerrado todavía, y había alguna discusión acerca de ponerla en la hormona del crecimiento para conseguir un mayor crecimiento fuera de ella antes de que se fusionan. Nosotros lo probamos, y ella floreció absolutamente. La reacción fue inmediata y dramática. Su apetito aumentó, que tenía más energía, un mejor tono muscular.. parecía hormona de crecimiento era una droga de maravilla para ella. Pero ella tomó a ella un poco demasiado bien y se hinchó su cerebro en una condición llamada pseudotumor Cerebrii. La presión en su cráneo estaba aplastando su nervio óptico, amenazando con cegarla. No podía soportar la idea de que.. esta enfermedad estaba recogiendo mi bebé aparte, primera vez que la audiencia, Ahora su vista. Dejamos de la hormona del crecimiento y la puso en la UCI. Ella tuvo que empezar a trabajar en Diamox, que es un diurético cerebral. El problema con Diamox es que causa hiperamonemia y bicarbonato de desgaste a nivel de los riñones (todos ustedes saben lo que eso significa.. altos niveles de amoníaco y pH bajo. Hurra, justo lo que necesitamos!) Era un baile con el diablo, equilibrar la necesidad de obtener rápidamente la hinchazón en su cerebro de causar una crisis metabólica. Fortunately, era un baile que ganamos. No más hormona de crecimiento para Cady. Nunca. Pero mantuvo la vista intacta y no sufrió mucho más que un hipo metabólica.
Ese mismo otoño, ganó regreso al hogar de la princesa, votado por su clase de segundo año. Sus compañeros de clase habían crecido con ella desde el momento en que eran los cuatro años de edad. Ellos son muy aficionados y muy protector de Cady. Ella ganó por decisión unánime.
Los últimos años, hasta este pasado finales de la primavera, Cady continuó siendo inestable. He intentado cosas diferentes con su dieta, y que iba a funcionar por un tiempo, pero siempre iba a terminar en una plaza. Comenzamos la terapia alterna flagyl con Augmentin, que también parecía ayudar. Nunca fui un fan de darle todo el tiempo flagyl, debido a su advertencia de recuadro negro y el hecho de que me gustaría averiguar por qué está descompensado y detenerlo en vez de tratar de tratar todo el tiempo. Al parecer, finalmente he golpeado en la la combinación correcta, para Cady, al menos. Cady había sido alimentado por vía oral durante años, pero a la luz del hecho de que ella estaba en la bomba con sus descompensaciones aproximadamente tanto como ella estaba fuera, Decidí ponerla en la bomba de forma exclusiva y dar a su sistema un descanso. También pude encontrar nada más que teorías no comprobadas con respecto a lo que estaba pasando en su intestino, haciendo que estas cascadas con tanta frecuencia, pero lo que me encontré fue que sus síntomas parecían ser más consistente con el desequilibrio de la flora intestinal frente a más del crecimiento. He cambiado el régimen de suplementos que había estado durante años y empecé a usar Vida ID, que utiliza una especializada, evaluación de la salud individualizado para generar una recomendación personalizada. Había probióticos en su recomendación, algo que sus médicos no le habían querido en el pasado. Estos suplementos son también de grado farmacéutico, a diferencia de la no regulada, Los suplementos no verificados en estantes de las tiendas de todo el mundo. So, Me armé de valor y le puse en la nueva administración de suplementos. Todo lo que puedo decir es, GUAU. Ella es estable de nuevo, happy, creciendo como una mala hierba y el más sano que ha estado en una década.
También asistió baile de graduación de este año, su último año. Ella fue una vez más el favorito de sus compañeros de clase’ ojo, ya que votaron su Prom Queen. Un par de semanas más tarde, y en desafío a todos los que gravan extraña contra ella cuando tenía dos semanas de edad, se graduó de la escuela secundaria.. con honores.
No puedo expresar lo orgulloso que estoy de su, de lo bendecidos que siento haber recorrido este camino con ella, ni cómo humillado estoy de que me eligieron para ser esta madre muy especial de niños. Ella me hace orgulloso diariamente. – Leslie
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Maren S.
Maren S.
Hi, I am Honey. My husband is Scott. We have a 6 year old son, Lyric, and a
new baby girl, Maren. Maren was born on February 13, 2012. She weighed 8 pounds and 6 1/2 ounces. Twelve days after having taken Maren home, on a Saturday, and while at our son’s friend’s birthday party, we received an urgent call from a doctor asking about Maren’s wellbeing. We then learned she had an abnormal result on a newborn screening, elevated C3, which could indicate a metabolic disorder. A couple of days later, we received a call from a genetic counselor from Denver Children’s Hospital who informed us that Maren was diagnosed with Propionic Acidemia. Maren shows no signs of her illness. She did not “crash” in the hospital and has not since. She is a month old now. Maren’s little body was fed for almost 15 days a typical newborn diet of breast milk and formula. She had no abnormalities in her urine while having this. We feel so lucky she was able to hold her own. She now has a team of doctors and a special formula that includes carnitine as well. Needless to say, as a family, we are devastated. We are slowly coming to grips with our new reality. She is a precious little girl and naturally we fear what’s to come. We are still learning about PA. Looking at Maren one would never guess what’s going on in her fragile little body. She appears to be just fine. As many other “seasoned” PA parents probably understand, we are in a pretty dark place having just been dealt this blow. We are scared, overwhelmed and shocked slowly making our way towards acceptance and looking for the strength to persevere and smile while doing it. It feels like an impossibilty right now. We are new to this community. We are willing to share our story and to hear from others.
Actualizar: 5/2012
Maren is now almost 3 months old. So far, so good is what I have to report. Maren has been doing wonderfully. We have made friends in other PA families since her diagnosis which has proven to be a blessing. Recently Maren had a diet change which included adding a large amount of protein back into her baby formula. This was scary, but everything is okay so far. Labs showed that Maren was severely low in 2 amino acids and just fine with the other 2. We struggle with her lab draws since she is so little and finding a vein seems to be quite a challenge. We have learned as a family and through the support of others to take each day as it comes. Learning to keep our fear in check is an ongoing lesson though. Doctors suspect that Maren has a “mild” form of PA. But, that is always prefaced with “only time will tell.” Maren is a sweet, happy, and strong baby!
Jenna Lynn
Jenna Lynn D.
Jenna attends MacKenzie Elementary school, Grade 6 in an inclusion class. She is on a
modified program, but is included in the classroom activities. She participates in science projects, class presentations and is not afraid to speak in front of the class. Jenna has learned to write (with adult prompting the letters) and is still struggling with reading. She had a socio-educational assessment that showed she is weak in both long and short-term memory functions, which explains why she struggles with academics. On the positive side, Jenna is very good at reasoning. If I ask her to play with her brother, she will give plenty of excuses to avoid it. A parent would normally complain of this behaviour, but we are thrilled that our daughter has the mental capacity to make an excuse.
Metabolically (and medically), Jenna has been fairly stable (touch wood). She is on high dosage of Carnitine, which gives her a “fishy” odour. She is showing interest in some foods such as hash browns, jell-o or strawberries; so we encourage it, although she only takes very little by mouth. She is still predominantly g-tube fed throughout the day (bolus fed during the day and continuous feeding at night). She recently stopped wearing diapers at night! We are working on her self-help skills and she is very eager to learn. Last year, she was started on the daily injection of Nutropin for growth hormone therapy as she is quite short (less than 5th percentile for her age). We are hoping that the growth hormone will help with her height, as well as increase her low-muscle tone.
Jenna is 11 years old, but is developmentally at age 6 or 7. She is the oldest child of 4 and has filled her role of big sister very well. She is polite, obedient, kind-hearted and an absolute delight to talk to. She is growing up so fast and developing into such a beautiful girl; we couldn’t be more proud of her accomplishments. In retrospect, we were given a very bleak future with our special needs daughter, but she has exceeded everyone’s expectations and continues to surprise us all with her amazing personality.
update 9/1/2018
Jenna is now an adult. She is turning 20 on November 18th! She graduated high-school life skills and is transitioned to a program called Gateway To Adulthood (GTA). Jenna’s metabolic status has been stable. Sin embargo, last year when Jenna turned 19 she suddenly had her first seizure. Fue un momento aterrador para nosotros ya que no entendíamos por qué desarrolló la epilepsia,,en,Estaba sucediendo a menudo,,en,Con una crisis metabólica,,en,sabíamos nuestro protocolo,,en,Todavía,,en,con convulsiones teníamos que estar alerta y constantemente en presencia de Jenna,,en,como podría suceder en cualquier momento,,en,Como con cualquier adolescente "normal",,en,Jenna anhela su independencia y busca el amor de un niño,,en,Ella admite ser una romántica y quiere que su príncipe azul venga un día y la deje caer,,en,Jenna es bastante la fashionista,,en,también,,en,Ella quiere,,en,un día,,en,comenzar su propia línea de ropa que ella diseñó,,en,En su tiempo libre,,en,a ella le gusta crear historias,,en,Historias de amor,,en,para ser exacto,,en,Ella les pedirá a sus amigos que representen su historia,,en,Como un jefe director,,en,Jenna sabe lo que quiere y les dice a todos sus rollos,,en. It was happening often. With a metabolic crisis, we knew our protocol. Yet, with seizures we had to be alert and constantly in Jenna’s presence, as it could happen at any time.
As with any “normal” teen, Jenna is longing for her independence and seeks the love of a boy. She admits to being a romantic and wants her prince charming to come one day and sweep her off her feet! Jenna is quite the fashionista, too. She wants to (one day) start her own clothing line that she designed. In her free time, she likes to create stories: Love stories, to be exact. She will ask her friends to act out her story. Like a boss director, Jenna knows what she wants and tells everyone their rolls! Estamos muy orgullosos de nuestra hija,,en,Una vez que un bebé pensamos que no veríamos vivir más allá de la edad de,,en,ahora es un adulto próspero y vive una vida hermosa,,en,Ayúdenos a alcanzar nuestra meta de criar,,en,A continuación se detallan los datos del año anterior,,en,recaudación de fondos,,en,resultados,,en,Este año marca el,,en,año de la campaña de la familia DELIMA en memoria de Lauren,,en,la familia DELIMA,,en,Página de Delima,,en. Once a baby we thought we would not see to live past age of 3, is now a thriving adult and living a beautiful life.
Jordan F.
Jordan F. (Born on January 28th, 2000 Passed on June 26th, 2016) 
It is with deep sadness that we share the passing of our beloved son, Jordan. Words cannot express the unbearable loss we feel and we are so thankful to all of our family and friends for being supportive during this difficult time. We have heard stories about Jordan from everyone he touched and received letters from peers that were out of town talking about how he taught them about unconditional love and how he changed their lives. In Jordan’s short 16 years, Jordan impacted more people than most of us do in a lifetime. Jordan loved playing soccer, boxing, basketball, bowling and kickball with his buddies. Jordan loved his electronics and if possible would have an ipod, an ipad, a kindle and the tv on at the same time. Jordan also loved having family and friends sing “on demand” his favorite songs. Perhaps, most of all, I will miss hugs and cuddling.
Jordan was a warrior in every sense. Jordan fought his illness until he could fight no more. He taught all of us so much. Jordan will always be in our hearts, our minds, and our souls.
Jordan inspired me to start PAF to find better treatments and a cure. In lieu of flowers, we have requested donations to Propionic Acidemia Foundation to continue the fight. Feel free to contact us any time – Love, Jill, Steve and Ryan
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Wow, time flies. Jordan is 16 years old. He is a sophomore in high school. Last spring he was hospitalized twice – once with pancreatitis and once for unknown stomach issue, but other than that has been doing well. He has a communication device called a NovaChat 7 which he is learning to use. He often says “I feel happy.” with his device. He continues to make slow progress with vocalizations and word approximations and can identify number 1-50 and is learning how to read. Jordan’s favorite activities involve “buddies” (typically developing peers) and he enjoys soccer, boxing, and kickball in addition to his high school buddies program. He has a 1:1 nurse and aide at school.
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Jordan is now 12 1/2 years old. He is in 7th grade at our local middle school. He uses a Dynavox V to help him communicate and is starting to use some word approximations.
He loves his Ipad – especially golf, bowling and Netflix. Jordan participates in extracurricular activities including bowling, kickboxing, soccer and music. He is a very happy child. He is now singing along to Cyberchase – his new favorite (yes, he still likes Barney, Blues Clues, Dragon Tales and Arthur). – 9/2012
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Hi!
My brother, Jordan, is 9 years old and has early onset Propionic Acidemia. 
We live in Highland Park, Illinois. He likes to play chase with me, play with his Video Now Jr. and swing on the swing in our basement. Jordan doesn’t know how to talk yet and I worry about what kind of job he will be able to get when he grows up. He uses a computer with a touch screen to communicate.
Jordan is in 3rd grade and goes to a special education school. I wish he was at school with me, but our school doesn’t have a special education classroom for Jordan. I also worry about where Jordan is going to live when he grows up, but my mom assures me that he will have choices. I love my brother very much and when I grow up I will try and help find a cure. I am 12 and would love to talk with other kids that have sisters or brothers with PA.
Written by Ryan, Jordan’s big brother