Archives de catégorie: Nouvelles & Annonces
lettre de dept ER
| Depuis acidémie propionique est rare et beaucoup de gens et professionnels de la santé ont pas entendu parler de lui, il est important d'avoir une lettre écrite par votre médecin au cas où vous devez prendre votre enfant à la salle d'urgence. Ce qui suit est un exemple de lettre de salle d'urgence écrit par le Dr. Barbara Burton. Si votre enfant a des diagnostics supplémentaires, Ils seraient également abordés dans la lettre de la salle d'urgence. Nous avons généralement plusieurs copies de la lettre à différents endroits (la voiture, sac à langer, école, soins liant). |
essais cliniques
| essais cliniques
Les laboratoires suivants effectuent des tests: |
Quelques raisons de références peuvent inclure: la confirmation d'un diagnostic, test de support, Conseil génétique, ou le diagnostic prénatal dans les grossesses à risque. Si vous avez un enfant avec acidémie propionique, le risque de chaque grossesse supplémentaire est 1:4 que le bébé aura acidémie propionique. Il est plus facile de détecter PA in utero, quand vous savez que la mutation. Vous pouvez également consulter les frères et sœurs et autres parents pour voir si elles sont porteuses d'un gène défectueux. Vous pouvez visiter Genetics Home Reference pour un glossaire des termes inconnus: |
Prenatal Diagnosis Links
Comprehensive Newborn Screen Links
| Comprehensive Newborn Screening Links |
Holland
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Welcome To Holland
by Emily Perl Kingsley ©1987 by Emily Perl Kingsley. All rights reserved. Reprinted by permission of the author. |
| I am often asked to describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It’s like this……
When you’re going to have a baby, it’s like planning a fabulous vacation trip – to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It’s all very exciting. After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome to Holland.” “Holland?!?” you say. “What do you mean Holland?? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.” But there’s been a change in the flight plan. They’ve landed in Holland and there you must stay. The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place. So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met. It’s just a different place. It’s slower-paced than Italy, less flashy than Italy. But after you’ve been there for a while and you catch your breath, you look around…. and you begin to notice that Holland has windmills….and Holland has tulips. Holland even has Rembrandts. But everyone you know is busy coming and going from Italy… and they’re all bragging about what a wonderful time they had there. And for the rest of your life, you will say “Yes, that’s where I was supposed to go. That’s what I had planned.” And the pain of that will never, ever, ever, ever go away… because the loss of that dream is a very very significant loss. But… if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things … about Holland. |
Support Groups
Travel and Lodging
Tips
| Tips from Parents and Caregivers |
| We will continue to add to this page based on input from the Email Discussion list. If you are not currently on the Discussion List – please join us.
Things to keep in the car: Night Feeding:Put an ice pack in a ziplock bag and tape them to the outside – Jen An AMT clamp will help keep extension tubing from disconnecting Formula:Containers: Pampered Chef Stir Pitcher – helps mix the formula – recommended by Michelle, Jen and Sheila Portion control:Lucy has begun measuring her snacks and lunches for school. She takes the scale and weighs her pretzels, chips, goldfish, etc. Puts them in baggies, and marks them for snacks. She also gets the measuring cups and measures out her pasta or corn. We use prepackaged jello, applesauce etc. We keep her pasta in individual containers in the fridge (she eats 1/2 cup for a sering). She has a drawer in the fridge devoted to just her things. We have a lot of discussion about food, what she can eat, etc and I am very upfront. When she asks about meat, regular cheese, etc, I just tell her it will make her very sick and she could die. I figure a little blunt fear is better than a maybe in this case and Lucy understands. She uses ” I’m allergic” to describe these NO foods. We also have “free foods” that she can eat all she wants if she just tells me how much. These are the things without protein– hard candy, apples, tomatoes, mushrooms, etc. If we don’t have a scale handy then she knows to count out the snack. She does this at school with pretzels etc. She actually has enough tolerance in her diet now that if she eats a few of these types of foods without me knowing the exact amount it won’t hurt. You might try the premeasured portions of aspargus in the fridge. And just tell her, “you eat more and you will get very sick”. I know I am hardcore, but someday they will have to make the decision on their own and Lucy is capable of understanding the consequences. –Julie School:Know the nurse’s home phone # Caring for the Caregivers:Take time for yourself even if it is 15 minutes to read, journal, meditate, stretch… Go for a walk or run. Meditation and breathing is good for a break |
Evan M.
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Evan M. – mis à jour en novembre 2020 Evan is now 13 ans et a tellement évolué depuis sa dernière mise à jour à 8 years old. Alors qu'il ne mange pas bien et qu'il refuse de manger par voie orale, il est principalement alimenté par sonde via un tube d'alimentation à bouton Mic-key. Il a un mélange de Tentrini Energy Multi Fiber, SOS 25, MMA/PA Express 15 et Calogen pour les calories. On lui donne des bolus pendant la journée et on pompe 3 hours at night.
Thankfully, c'est la seule chose avec laquelle il est passé des backwords. Il est propre (journée & nuit) depuis quelques années maintenant et va très bien. Son discours / communication a fait des bonds & limites et bien que nous ne puissions toujours pas avoir de conversation avec lui, il peut s'exprimer assez clairement et comprend les commandes et les demandes. Il adore m'aider à la maison à faire des petits boulots à la maison.
Evan aime toutes les technologies, il aime regarder la télé (ses favoris en ce moment sont Friends, Deux hommes et demi, émissions de cuisine et dessins animés) films, musique et danse. Il aime les animaux et a une fascination pour les pingouins. Il aime les livres et la lecture et adore jouer avec notre chien Elmo. C'est un garçon souriant qui illumine n'importe quelle pièce et a un rire si contagieux. Il a une joie de vivre pas comme les autres et aime les gens et les gens l'aiment. C'est un artiste à coup sûr.
Bien qu'il ait avancé, nous avons encore un long chemin à parcourir. Principalement avec son alimentation et il a également actuellement des problèmes de mobilité nécessitant des supports AFO à hauteur du genou lors de la marche. Il est considéré comme «sévère’ avec PA. La gravité a quelque peu diminué après la greffe, mais peu importe à quel point il se porte maintenant, l'avenir est toujours incertain avec PA, surtout maintenant avec Covid. Il est actuellement scolarisé à la maison et va très bien malgré mon appréhension. Sa santé restera toujours notre priorité, son développement peut être travaillé.
Evan M. – updated March 2015
The transplant wasnt a ‘cure’ but is a huge help in managing Evan’s condition and giving the best chance at living a normal life. He can tolerate alot more protein which in turn helps his development and generally makes him look healthier. He is in his 2nd year in the local special needs school and he absolutely loves it. He runs out to the bus in the morning and always has a smile on his face wen he gets off the bus when he gets home! He loves the attention and being with others his own age. His speech and communication is coming along although we still can’t converse with him and his eating is steadily improving. Although foods still have to be pureed, he is open to trying new things and experimenting and playing with food whereas before he showed absolutely no interest in food and mealtimes.
Not everyone agrees with our decision to go for a Liver Transplant but even though the 1st year was tough we don’t regret our decision. Our thinking was that if something happened during or after the transplant at least we are doing everything possible and in our power to give our child the best chance possible to have a normal life. Life with PA is so unpredictable. Sarah (Evans mam)
———————————————————– Evan is 4 and he was diagnosed with Propionic Acidemia when he was four days old. normal pregnancy, normal delivery and evan arrived a healthy 7lbs 11ounces three days early. On day 3 he was getting very lethargic, he wasnt feeding and was breathing funny from his nose, like he had a cold. He was brought to the Special Care Unit by a nurse and we were told he would be back up soon so we presumed it was just to be checked out. An hour later, he was on a ventilator as doctors were afraid he would stop breathing. A number of tests were done and doctors in Cork narrowed it down to a Metabolic Disorder but they were not the experts in this field, The Metabolic Center of Ireland is in Dublin so Evan was transferred up when he was 3 days old where they diagnosed him the day after. Evan was in the hospital for 3 months until well enough to return home. Since then he has been admitted to the local hospital a handful of times, for flus, bugs and infections but thankfully since birth he has had no major decompensation. He has a good enough appetite and drinks his XMTVI Maxamaid orally during the day and eats about 6 of his restricted 8 exchanges of protein orally, cependant, anything he does eat has to be liquidised with no lumps whatsoever. He also has a continued feed during the night through PEG Tube. We travel to his doctor in Dublin every 3 months for check ups, where they take blood and check his levels are normal, and we speak to dieticians etc. Evan is a wonderful, happy, sociable, and boisterous 4 year old , he struggles with speech and communication which can get him frustrated and he has regular speech therapy, physio and occupational therapy. Evan has been on a waiting list for an Auxiliary Liver Transplant for 7 months now. |
Evan is now 8 years old. He had a partial liver transplant in March 2012. Whilst the 1st years was very tough, unfortunately he was diagnosed 6 months after transplant with Lymphproliferative Disease. A type of Lymphoma brought on by the immunosuppressants needed to stop his body from rejecting his new liver. He needed a few months of chemotherapy but thankfully got the all clear from this a few months later. Since this however, Evan has come along so so much.
He is still tube fed most of the time via a mic-key button in his stomach. His feed consists of Energivits, Nutrini and MMA/PA Gel and all medications we give to him via this tube. So even though he still picks up every bug and infection going and does have long bouts out of school and the odd admission to our local hospital the future is looking bright for Evan. There is no doubt life is tough living with PA, we do our best by our children.