Gwen M. – updated May 2015 |
My beautiful girl just turned 9 years old this year and it seems nothing short of![]() —————————————————————————- 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!!!! |
Archiv der Kategorie: Nachrichten & Ankündigungen
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 |
Eilidh
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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, sie wird ein EEG und MRT im Juni haben und zurück gehen wird mit Dr.Korsons in Tuffs Medical Center in Boston, Follow-up. Leahs Diät besteht aus ihrer Formel Duocal, XMTVI Maxamaid, Pediasure und vollständige Aminosäure Mix. Sie nimmt Carnitin, Biotin, Dextromathorphan, CoEnzyeme Q10, Natriumbenzoat, Eisen-Supplement, B-1 & Pyridoxin. Sie bekommt Zofran & Flagyl bei Bedarf und nimmt Zyrtec für Allergiesymptome. Sie bekommt 3 während des Tages Fütterung mit ihrem Zervex, (die neue Unendlichkeit) und eine Nacht. Sie hat noch nie in Essen interessiert, aber tut genießen Huhn in einem Bisket Cracker und Buggles unten gewaschen mit Wasser. Wir haben akzeptiert, dass sie nicht essen kann, und das ist in Ordnung,. Wir sind der Meinung, dass, wenn sie glücklich und gesund ist, als das ist alles, was zählt. We love her the way she is and her happiness is the most important thing in the world to us. Thank you. |
Louie
Louie |
.![]() 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” und “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
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.
Aktualisieren: 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 besucht MacKenzie Grundschule, Klasse 6 in einer Integrationsklasse. Sie ist auf eine modifizierte Programm, aber in den Unterrichtsaktivitäten einbezogen. Sie beteiligt sich an wissenschaftlichen Projekten, Klasse Präsentationen und hat keine Angst vor der Klasse zu sprechen. Jenna hat gelernt zu schreiben (mit Erwachsenen aufgefordert die Buchstaben) und kämpft immer noch mit dem Lesen. Sie hatte eine sozialpädagogische Einschätzung, die zeigte sie in beiden Lang- und Kurzzeitgedächtnis Funktionen schwach ist, was erklärt, warum sie mit Wissenschaftlern kämpft. Auf der positiven Seite, Jenna ist sehr gut im Denken. Wenn ich sie frage, mit ihrem Bruder zu spielen, sie wird viel Ausreden geben, es zu vermeiden. Ein Elternteil würde normalerweise für dieses Verhalten beschweren, aber wir sind begeistert, dass unsere Tochter die geistige Leistungsfähigkeit hat eine Entschuldigung zu machen.
metabolisch (und medizinisch), Jenna war ziemlich stabil (Toi toi toi). Sie ist auf hohe Dosierung von Carnitin, das gibt ihr eine "fischigen" Geruch. Sie zeigt Interesse an einigen Lebensmitteln wie Rösti, Jell-o oder Erdbeeren; so dass wir es fördern, obwohl sie nimmt nur sehr wenig durch den Mund. Sie ist immer noch überwiegend g-Rohr den ganzen Tag gefüttert (Bolus während des Tages und kontinuierliche Beschickung in der Nacht gefüttert). Sie hielt vor kurzem Windeln in der Nacht tragen! Wir arbeiten an ihrer Selbsthilfe-Fähigkeiten, und sie ist sehr wissbegierig. Last year, sie für Wachstumshormon-Therapie auf die tägliche Injektion von Nutropin wurde begonnen, als sie ziemlich kurz ist (weniger als 5 Prozent der für ihr Alter). Wir hoffen, dass das Wachstumshormon mit ihrer Höhe helfen, sowie ihre Low-Muskeltonus erhöhen.
Jenna ist 11 years old, aber ist entwicklungspolitisch im Alter 6 oder 7. Sie ist das älteste Kind von 4 und hat ihre Rolle der großen Schwester sehr gut gefüllt. Sie ist höflich, gehorsam, gutherzig und eine absolute Freude zu sprechen. Sie wächst so schnell und entwickelt sich zu einem so schönen Mädchen; wir konnten nicht mehr stolz auf ihre Leistungen sein. Im Rückblick, wir waren eine sehr düstere Zukunft mit unseren speziellen Bedürfnisse Tochter gegeben, aber sie hat alle Erwartungen übertroffen und uns alle immer wieder mit ihrer erstaunlichen Persönlichkeit zu überraschen.
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. Jedoch, last year when Jenna turned 19 she suddenly had her first seizure. Es war eine beängstigende Zeit für uns, weil wir nicht verstanden haben, warum sie Epilepsie entwickelt hat,,en,Es geschah oft,,en,Mit einer metabolischen Krise,,en,wir kannten unser Protokoll,,en,Noch,,en,Bei Anfällen mussten wir wach und ständig in Jennas Gegenwart sein,,en,wie es jederzeit passieren könnte,,en,Wie bei jedem "normalen" Teenager,,en,Jenna sehnt sich nach ihrer Unabhängigkeit und sucht die Liebe eines Jungen,,en,Sie gibt zu, ein Romantiker zu sein und will, dass ihr Prinz charmant eines Tages kommt und sie von ihren Füßen reißt,,en,Jenna ist ziemlich die Fashionista,,en,auch,,en,Sie möchte,,en,Eines Tages,,en,starte ihre eigene Kleidungslinie, die sie entworfen hat,,en,In ihrer Freizeit,,en,Sie mag es Geschichten zu schreiben,,en,Liebesgeschichten,,en,um genau zu sein,,en,Sie wird ihre Freunde bitten, ihre Geschichte auszuleben,,en,Wie ein Boss-Direktor,,en,Jenna weiß was sie will und erzählt jedem ihre Brötchen,,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! Wir sind sehr stolz auf unsere Tochter,,en,Einmal ein Baby, dachten wir, wir würden nicht in der Lage sein, in der Vergangenheit zu leben,,en,ist jetzt ein blühender Erwachsener und lebt ein schönes Leben,,en,Helfen Sie uns, unser Ziel zu erreichen,,en,Im Folgenden finden Sie Details zum Vorjahr,,en,Spendensammlung,,en,Ergebnisse,,en,Dieses Jahr markiert die,,en,Jahr der DELIMA-Familienkampagne zum Gedenken an Lauren,,en,die DELIMA Familie,,en,Delima Seite,,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 Bestanden am 26. Juni, 2016)
It is with deep sadness that we share the passing of our beloved son, Jordan. Worte können die unerträgliche Verlust nicht ausdrücken, fühlen wir uns, und wir sind für alle unsere Familie und Freunde so dankbar für in dieser schwierigen Zeit unterstützend. Wir haben gehört, Geschichten über Jordan von jedem, den er berührt und bekam Briefe von Kollegen, die aus der Stadt waren darüber reden, wie er sie über die bedingungslose Liebe gelehrt und wie er ihr Leben verändert hat. 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