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Lauren June (age 9) Propionazidämie, Kardiomyopathie & Autism (passed away peacefully at Canuck Place Children’s Hospice from Congestive Heart Failure) Dear Lauren, It has been 2 months since you’ve been gone and we think about you every With Love, Bitte beachten Sie auch Lauren Webpage an http://laurendelima.weebly.com/ um weitere Fotos und Videos. |
Archiv der Kategorie: Nachrichten & Ankündigungen
Vincent F.
| Vincent F.
My most fondest memories of my son Vincent was his strength, courage and the constant happiness that he projected. His favorite things to do were to and I quote “go to the rides or “go bowl” and he loved to be with his family. Even though he battled PA he was always smiling and laughing. It brings me to tears when I think about it but it is something that he taught in all of us that whatever “life” God chose for you, it is much better to live it to your fullest than to give up. Vincent was 10 years old when he lost his battle with PA and we will never forget his beautiful smile and warm heart. “The mention of my child’s name may bring tears to my eyes but it never fails to bring music to my ears. If you are really my friend, please don’t keep me from hearing the beautiful music. It soothe’s my broken heart and fills my soul with love.” |
Kirstyn T
Kirstyn T – updated 3/2016
Hallo PA Freunde!! Es hat eine lange Weile, da wir zu viele von Ihnen gesprochen haben!! Es ist so froh, in Kontakt zu sein, wieder von Kirstyn aktualisierten Geschichte teilen! Für diejenigen von Ihnen, die Sie kennen uns nicht… Ich werde von Anfang an beginnen. Kirstyn Paige wurde am August geboren 17, 2004 und nach zehn Jahren der Unfruchtbarkeit und einer unauffälligen Schwangerschaft hatte sie endlich angekommen. Als sie geboren wurde, begann sie Anzeichen von Ikterus und unser Kinderarzt zeigt beschlossen, etwas Blut Arbeit zu verrichten. Es kam mit den Ergebnissen der ABO Inkompatibilität zurück und sie brauchte eine Stunde nördlich von unserer Heimatstadt zu Shands an der University of Florida für Triple-Foto-Therapie transportiert werden. Es kommt auch meine Alma Mater zu sein…damit…GO GATORS!!!! (Ich hatte, dass dort zu werfen!.) Natürlich waren wir krank zu dieser Diagnose besorgt, aber wir hatten keine Ahnung, was am Horizont. Während Kirstyn bei Neugeborenen Kindergarten bei Shands war, antwortete sie gut auf die Behandlung Ikterus , aber sie begann, einige andere Probleme mit. Um sechs Tage alt war sie fast lethargisch und weigerte sich, Krankenschwester und schien sogar eine harte Zeit, die Augen zu öffnen zu müssen. Ich wurde wütend und fragte die Krankenschwester, einen Arzt zu rufen sie über zu überprüfen. Er wurde über ihre Atemnot besorgt und beschlossen, dass sie zur weiteren Auswertung zur NICU zugelassen zu werden, benötigt und Prüfung. Im Laufe des Tages auf ihren Zustand ging verschlechtert und sie tatsächlich gestoppt Atmung. Zum Glück war sie im Krankenhaus und erhielt sehr schnell medizinische Versorgung. Ihr Ammoniak gestiegen war, um über 700 und sie war acidotic. Sie war an der Dialyse, intubiert und das medizinische Personal äußerten ihre Besorgnis darüber, dass sie nicht durch die Nacht leben. Sie war erst sieben Tage alt. Wir waren absolut am Boden zerstört!!
Ein Arzt mit Namen Dr.. Bernstein hatte Dienst in der NICU und er hatte einige begrenzte Erfahrungen mit Stoffwechselerkrankungen. Er sofort in der Genetik-Team genannt und nach ein paar Tagen hatten wir die bestätigten Diagnose von Propionazidämie. Sie verbrachte neun und 1/2 Wochen in der Intensivstation und bekam schließlich die Entlastung Aufträge, die wir gewartet hatte! Schneller Vorlauf………………………..
Kirstyn ist eine erstaunliche 11 Jahre alt, die im vergangenen Jahr der Mittelschule begonnen. Die Leute sind so recht, wenn sie sagen, nicht zu blinken! Wie hat mein Baby alt genug geworden Mittelschule zu starten? Sie hat etwa vierzehn nachfolgende Hospitalisierungen im Laufe der Jahre und zum Glück hat nicht die Zulassung für etwa 18 Monate hatte jetzt!! Sie ist immer noch bei Shands behandelt und hat auch Kardiomyopathie und Borderline-Long-QT entwickelt. Ihre Ärzte sind erstaunlich und das medizinische Team wurde von unserer Seite ihr ganzes Leben stand!! Sie hat eine GTUBE, die in drei Wochen alt und diese Entscheidung eingelegt wurde, hat uns zahlreiche Reisen ins Krankenhaus gerettet. Kirstyn isst auch durch den Mund und an den meisten Tagen verbraucht 100 Prozent ihrer Nahrung durch den Mund. Ihr Geschmack ziemlich oft ändern und ihre Lieblingsspeisen von einer Woche nicht ihre Lieblingsnahrungsmittel der nächsten Woche. Seufzer……… Sie liebt Schokolade, Pommes frittes, Doritos, Spaghetti, süßen Tee und McDonalds Pfannkuchen lota von Sirup und Rösti. Wir sind auf einem sehr freundlichen Vornamen mit unseren lokalen McDonalds Mitarbeiter. 🙂
Kirstyn hat tatsächlich eine begabte IQ und während sie die Fähigkeit hat, in der Schule zu übertreffen, es sich als nicht immer auf diese Weise wegen ihrer mäßigen Diagnose von ADHS. Sie ist in der Lage eine nicht stimulierende Medikamente nehmen sie zur Behandlung von ADHS, aber der Arzt keine stimulierende Medikamente wegen ihrer Herzprobleme genehmigen. An manchen Tagen ist das Verhalten ein echter Kampf , aber sie hört nie auf uns mit ihrem Charme zu überraschen, Witz und Sinn für Humor!
eine Kunstportfolio ihrer Zeichnungen und Gemälden Kirstyn ist der ganz Künstler und hat tatsächlich begonnen. Sie hat Unterricht private Kunst genommen, und das ist ihre Leidenschaft. Sie übt auch Bogenschießen mit ihrem Vater und genießt Dreharbeiten ihren Bogen und Angel. Sie genießt Antagonisierung auch ihr jüngerer Bruder, Cason, der neun Jahre alt und unbeeinflusst von PA. Last year, Wir waren die Ehre des Werdens ein Botschafter für Kinder Miracle Network Shands Krankenhaus bei UF gegeben. Sie hat die unglaubliche Gelegenheit zu verbinden Kinder mit anderen Behinderungen und ich die Ehre, ihre Geschichte zu teilen und bringen das Bewusstsein zu Propionazidämie und andere Stoffwechselerkrankungen.
Wir leben etwa eine halbe Stunde entfernt von Disney und haben den Spaß Vergnügen des Treffens mit einigen anderen PA Familien hatten, als sie im Urlaub gewesen sein. So, wenn Sie jemals in unserem Hals der Wälder, Bitte kontaktieren Sie uns und sehen, ob wir Sie zu treffen!!
Ich habe Freunde fürs Leben von einigen der anderen PA Eltern gemacht und ihre Erfahrungen haben uns geholfen, diese schwierigen Gewässern der Propionazidämie navigieren. Als meine langjährige Erfahrung weiterhin meine Hoffnung zu wachsen, ist, dass ich auch andere Eltern hep können. Viel Liebe von Ronnie, Marsha, Kirstyn und Cason.
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Kirstyn T.
After ten years of infertility issues, Kirstyn was on her way! She turned 4 on Saturday Aug 17 & mom said her birthday was bittersweet as it is every year. Like so many PA families, her parents were told in the first week that their daughter would likely not live through her initial crisis. When Kirstyn was born she had ABO incompatibility which is basically severe jaundice, so she was transported to Shands NICU to get her liver to kick in. The first 7 days there, Kirstyn became very lethargic & stopped eating. One of the nurses even scolded mom saying she couldn’t take her child home until she proved she could feed her. The next day Kirstyn crashed, falling into a coma. Ammonia was over 700 & she spent 9 weeks in that NICU, during which time she had a core team of nurses assigned to her because of her rare condition & bleak prognosis.
After that, she went the entire first year without further need for hospitalization, but has had 4 since then. She’s had three blood transfusions of packed red cells. She was diagnosed with mild cardiomyopathy at 18 months, so she has an EKG & EEG every 6 months. Stomach bugs are the hardest thing, causing 2 hospitalizations due to excessive vomiting, ketones & high ammonia. Dezember 2005 she spent 2 days in the hospital for a terrible ear infection that was first misdiagnosed as seizures because she was vomiting then zoning out. März 2006 she was in overnight for a respiratory infection & high ammonia. Her mom said “Kirstyn gets sick really quickly! Once she reaches moderate ketones, she will need to go straight to the hospital or her body will begin rapid decompensation.”
Kirstyn had OT & PT her first 3 years through an Early Intervention program. At the age of 3 she broke her collar bone in school because she didn’t reach to catch herself during a fall due to her low muscle tone. She’s clumsy when she walks, but has always been very active. Her mom said “If she gets red faced, we have to give her extra calories or she will spill ketones within an hour of hard play. We learned that the hard way during her 3rd birthday party at the park.”
Last year at age 3, test results showed Kirstyn had reading & comprehension skills of a 6 year old, & counting & number abilities of a 5 year old. She’s going into her 2nd year of pre-k, geared toward medically impaired children with no cognitive delays. She’s quite bold & independent & it’s very difficult to keep her on a task she doesn’t want to do. She loves to sing, draw, & paint. She has very low muscle tone in her hands, so she really resists anything that involves use of hands, like using scissors. Due to her low muscle tone, Kirstyn still receives PT through school. She has a lot of behavioral issues & doesn’t like to listen. Her school has recently considered testing her for ADHD, even though they’re also considering testing her for the gifted program.
She’s just started her first activity, tap dancing & loves it! Recently Kirstyn learned to ride a bicycle 
with training wheels, which she got for her birthday. Playing on the computer is one of her favorite past times. She doesn’t like her little brother Cason (20 months), & often asks her mom to “Please send him back to the Little Brother Store.” She picks out all of her own clothes & doesn’t care what people think : ) And, she loves to do housework.
Kirstyn eats 100% by mouth except when she’s sick. With a packed lunch from her mom, she eats so much better to at school with friends around. Her mom said “We always know when she’s getting sick because her first symptoms are always spilling ketones and she stops eating. For this reason she has a g-tube“. Like many young children, she has a weird diet consisting largely of french fries, pancakes, hash browns & loves to eat at McDonalds & Bob Evans! Her mom said she likes ketchup on mini frozen waffles & calls them mini pizzas & would eat ketchup on everything (anything mom lets her put it on!) She doesn’t care much for sweets, only an occasional M&M. At parties she’ll tend to lick a bit of icing to feel like part of the group.
As far as potential complications from PA, she’s doing amazingly well. As of this year her doctors said she only needs labs 4 times per year! Her restricted amino acids typically run around the low end of normal, & she’s given a Valine supplement because it’s always run below normal. Her Glycine is typically around 800.
Marsha, Kirstyn’s mom, expressed her sincere appreciation for the support she’s received from the other PA families through PAF, saying “We’ve been blessed to be part of this support community, which I’ve turned to for help on many occasions.” She said they’ve even met a few other PA families because they live so close to Walt Disney World, so look her up if you’re planning a trip!
On behalf of Marsha, Ronnie, Kirstyn, & Cason
Brandon N.
Brandon N.
Unser Sohn Brandon begann Symptome der Krankheit zeigt, innerhalb 
der erste Tag seiner Geburt (7-9-98). Um es kurz zu machen, er wurde schließlich diagnostiziert bei 5 Tage alt bei Riley-Kinderklinik in Indianapolis, Indiana. Wir haben eine wirklich große Gruppe von Menschen, die Brandon verwalten, die Dr.s Wappner und Hainline und eine große Ernährungsberater Becky umfassen, die ich meinen Freund betrachten. Ohne sie ich weiß nicht wirklich, wo Brandon wäre heute.
Brandon hat einen g-Tube und bekommt fast alle seine Ernährung durch seine Rohr. Er ißt von Mund und besteht überwiegend aus Beben (Ranch gewürzt), und blies Popcorn. Brandon mag auch Saucen und wird in der Regel so etwas versuchen. Nun, das ist genug, um die medizinische Sachen.
Lassen Sie mich Ihnen wirklich um meinen Sohn sagen Brandon. He is 6 (fast 7). Er wird der 1. Klasse in einer speziellen Ausbildung Klasse eintreten. Er hat seine ABC erobert und werden bald seine Zahlen 1-10 nach unten. Brandon liebt, draußen zu spielen und wirklich genießt rund um anderen Kindern zu sein. Er schwimmt mit Special Olympics, spielt Baseball auf einem Challenger Liga und sein Fahrrad mit Stützrädern fahren können. Brandon hat große Versprechen mit seiner Laute und mit der Praxis gezeigt, ich weiß, eines Tages werde ich hören "Ich liebe dich Mama." Brandon hat ein Lächeln, das Ihr Herz schmelzen, sondern hat auch die schelmischen Augenzwinkern.
Eines Tages, weeks, Monat usw.. kann hart sein,, aber wenn die kleine Hand hält Ihnen, wie Sie sehen Shrek zum 100. Mal, oder wenn er nimmt den gleichen Gutenachtgeschichte jeden Abend, oder wenn er so stolz auf sich selbst, weil er endlich gelernt, wie man eine Kerze auszublasen ...
Ich weiß, ich war wirklich gesegnet.
Wir lieben dich Brandon, Mach weiter so.
Tony, Lisa, Matt und Brandon N.
Valparaiso, Indiana
Amber B.
Amber B. – 21 years old – aktualisiert Februar 2017
Bernstein ist eine sehr glückliche Person, selbst wenn sie nicht ein gutes Gefühl, sie lächelt immer. Sie liebt Country-Musik; Luke Bryan ist ihr Liebling,,en,Sie wird von der High School im Mai seinen Abschluss,,en,und wird ein Tagesprogramm in einem örtlichen Ausbildungszentrum mit ihren Freunden beginnen,,en,In den letzten Jahren ihre Gesundheit war auf und ab mit ihrem Umgang mit c-diff,,en,aber noch Fortschritte machen jeden Tag,,en,Sie ist eine erstaunlich starke Person, die Kraft gibt mir jeden Tag,,en. She will be graduating from high school in May of 2017 and will begin a day program at a local training center with her friends. The last few years her health has been up and down with her dealing with c-diff, DVT (Blutgerinnsel) in ihrem Bein, Diabetes, metabolische Hüben, und Long-QT. But, durch all das ist sie ein Kämpfer und hat sich wieder gut erholt und schnell. Sie arbeitet in einem 4-5-jährigen Niveau, but is still making progress every day. She is an amazingly strong person who gives me strength every day. ————————————————————————————————————————
I have a little sister, Tiffany, she has PA too. To me that is great, because I am not alone, she has to drink the formula too and get sticks too. It makes me feel better to have her there with me at the doctor’s office. God Bless You, |
Hi my name is Amber, I am 12 years old and I am in 7th grade at Chestnut Log Middle School. I have PA and I’m ok with it. My favorite thing to do is listen to country music. My favorite artist, right now, is Carrie Underwood. I love to sing with her. I love to eat anything that does not eat me first. My favorite foods are spaghetti with marinara sauce, brocolli, and french fries. I eat and drink everything by mouth, including my formula. I kinda like the flavor of it. I do have significant developmental delays, but I am very happy. I have cool hearing aids, they are blue and white, and I just started wearing glasses. Not too bad either. I have not been in the hospital for about 3 years now, I hate the hospital, but they give you cool stuff while you are there, like toys and games, my favorite thing to do in the hospital is play bingo, I am very good at it.Chase W.
Chase W. age 22 – updated 4/2020
Hallo zusammen,
Es ist vier Jahre her, seit ich ein Update über Chase geschrieben habe. He is 22 Ich bin jetzt Jahre alt und freue mich, berichten zu können, dass es ihm in dieser sehr schwierigen Zeit der Pandemie gut geht und er gesund bleibt.
In den letzten vier Jahren musste Chase zwei Mal ins Krankenhaus eingeliefert werden. Im April von 2017, Chase wurde sehr krank mit Lungenentzündung. Er war drei Wochen lang an einem Beatmungsgerät. Wir waren uns nicht sicher, ob er es schaffen würde, Aber Chase ist ein Kämpfer und wir hatten so viele Leute, die für ihn beteten. Viele von Ihnen waren Teil dieser Gebete, und ich kann dir nicht genug danken. Er war größtenteils metabolisch stabil, außer, of course, wenn er krank ist. Neben dem Genetikarzt und dem Neurologen, Wir sehen einen Kardiologen für das Long-QT-Syndrom. Wir sehen auch einen Nephrologen und haben kürzlich erfahren, dass seine Nieren nur zu fünfzig Prozent funktionieren. Trotz dieser Herausforderungen, Chase bleibt relativ gesund.
Chase hat im letzten Frühjahr die High School abgeschlossen. Es war so aufregend für ihn. Ich habe seine Schule so sehr geliebt, aber es war Zeit für ihn, weiterzumachen. Die größte Herausforderung bestand darin, ein geeignetes Programm für ihn nach dem Abschluss zu finden. Ich konnte ein Programm finden, das alle seine Bedürfnisse befriedigte und die Finanzierung für das Programm erhielt. Das war eine große Erleichterung!
Chase ist so ein glücklicher Mensch und zaubert jedem, den er trifft, ein Lächeln. Er liebt es, die Geburtstagskarten vom Krieger-Geburtstagsclub zu bekommen. Er verbringt gerne Zeit mit seiner Familie, insbesondere, sein älterer Bruder Kyle. Er sieht gerne Sport im Fernsehen und geht sehr gerne spazieren, wenn er im Rollstuhl geschoben wird. Er kann alleine laufen, ermüdet aber ziemlich leicht.
Ich hoffe, dass in dieser sehr schwierigen Zeit alle unsere Familienmitglieder gesund bleiben. Es ist so eine beängstigende Zeit, aber eine Organisation wie diese zu haben, ist so hilfreich. Ich kann der PA-Stiftung und der OAA nicht genug für alles danken, was sie tun.
Amy
Mutter zu jagen 22 PA
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Update von Chase W., age 18
Hallo, alle miteinander, das letzte Mal, dass wir auf Chase ein Update löschte hatte, er war zehn Jahre alt. Er wird Drehen 18 nächsten Monat! Ich kann nicht glauben, wie die Zeit geflogen ist durch.
Chase hat sich zu einer schönen jungen Mann herangewachsen. Er hat wirklich viel Babyspeck verloren und ist schlanker und größer geworden. Wir hatten Anpassungen mit seiner Formel auf dem Weg zu machen, aber, insgesamt, Chase hat sich wirklich gut zu tun. Er isst immer noch nichts durch den Mund außer Getränke Wasser.
Derzeit ist er als Jugendlicher an einer Sonderschule. Er begann diese Schule als College-Student. Das war so eine große Veränderung für ihn. Wir haben versucht, das Programm an unserer lokalen High School, aber, es konnte einfach nicht alle Chase Bedürfnisse erfüllen. Ebenfalls, es hatte 2,000 students, Die gegenwärtige Schule Chase hat 200 students. Das Programm, das er in ist ist wunderbar. Sie lehren ihn wirklich das Leben Fähigkeiten, und sie haben eine Werkstatt für behinderte Menschen auf den ersten Blick. Chase hat bestimmte Jobs, die er jeden Tag tun muss. Die Studenten, zusammen mit den Mitarbeiter gehen in die Gemeinde einmal pro Woche. Er, ebenfalls, Sprech- / Sprachtherapie erhält, occupational therapy, und aba Therapie.
Chase ist seit mindestens fünf Jahren nicht ins Krankenhaus. Jede Krankheit hat er bekommen, wir in der Lage gewesen, zu Hause zu kontrollieren, einschließlich einer Magenverstimmung. Wir haben, ebenfalls, schließlich haben anfallsfrei Chase hatte für 6 months. Er ist auf drei Medikamente für seine Anfälle, und sie haben kontrolliert sie wirklich gut.
Chase körperliche Stärke hat es abgelehnt, auf jeden Fall im Laufe der Jahre. Die Ärzte wollen alles ausschließen, so wird ein MRI für ihn geplant bald. Er wurde für Orthesen ausgestattet und das hat sehr viel mit seinem Spazier geholfen. Er bekommt sehr leicht ermüdete, und manchmal erfordert einen Rollstuhl. Das ist so seltsam für den Jungen, als er jünger war,, Sie hatte buchstäblich zu "jagen" ihn überall.
Insgesamt, Chase ist sehr glücklich. Er genießt wirklich seine Bücher, seine bestimmte Musik Spielzeug, und Sportübertragungen im Fernsehen. Er mag Zeit mit seiner Familie vor allem sein großer Bruder Kyle zu verbringen, als er von der Hochschule nach Hause kommt. Er genießt seine außerschulische Aktivitäten von Basketball und Baseball, er kann nicht immer teilnehmen, aber er genießt wirklich ein Zuschauer zu sein!
Ich fühle mich sehr gesegnet Chase Mutter zu sein. Er ist so ein besonderes Kind. I am, ebenfalls, sehr dankbar für die PA-Stiftung, ebenso gut wie, die Straßen.
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Chase W.
Our son Chase was born March 19, 1998. He was our second child and my husband and I were so excited because we were having another boy and Kyle, our older son, was going to be a big brother. We had no idea what was ahead of us. Chase’s story is so familiar to all PA families. By Chase’s third day of life, I knew something was not right. He would not breastfeed and his breathing was very labored. I also noticed an odd smell on him when I held him close. It was late at night and I alerted the nurse, but she just thought I was tired. I insisted that he be taken to the nursery for the doctors to check him out. I remember calling my husband telling him Chase was very sick and this was before anyone told me what was wrong. I just knew something was wrong with him. As a mom, you just know. Sure enough, the nurse came back, and told us that his temperature had dropped to 95 degrees and he was acidotic. Of course, I did not know what that meant. Fortunately, we were in a very good hospital and they immediately started giving Chase medicine that would help him, especially with his ammonia. They did have to transfer him to St. Louis Children’s Hospital, but by Chase’s fifth day of life, the doctors at Children’s hospital were very sure he had Propionic Acidemia. My husband and I, of course, had never heard of it. I just remember asking God to please spare our son so my son Kyle could have a little brother.
Now Chase is 10 years old. We can’t believe it sometimes. In the beginning, the doctors were very guarded on Chase’s prognosis because he had an early onset case of PA and not a lot was known. He has been hospitalized so many times we have lost count, but as he has gotten older, those hospital admissions have decreased. He has just recently started having seizures again, but besides that his PA is very much in control.
Chase is such a sweet boy, he brings so much joy to our lives. He is developmentally delayed, but he is making strides every day. He really lives up to his name, by the time he was walking at 18 months, we were definitely “chasing “him around and have been ever since. We are so thankful to all the OAA families and the PA families for all the support and advice. With this disease, you can really start to feel alone, but it is such a blessing to be able to connect with other families. This past year, we went to our first PA family day, and we had such a good time. It was so nice to be able to talk to other families about g-tubes and other stuff and know that other people totally know where you are coming from.
We would love to talk to other families.
God bless you,
Amy, Jackson, Chase 10 PA, and Kyle 14
Tiffany B.
Tiffany B. – Age 16 – Aktualisiert Februar 2017
Tiffany B
Tiffany ist eine sehr offene Person, sie liebt es zu reden. Ihre Lieblings-Dinge in der Welt sind Odd Squad, Barney, und alle Kinder zeigen auf YouTube. Sie ist im zweiten Jahr in der High School in einer speziellen Ausbildung Klasse. Sie war weitgehend stabil in den letzten Jahren mit ihrem PA, nur Probleme mit QT, und Krampfanfälle. Sie ist total g-Tube abhängig, aber ist immer hungrig. Sie ist sehr mitfühlend zu anderen und ist sehr süß. Es dauert wirklich viel ihr runter.
Hi, my name is Tiffany, I am 8 years old, I am in 3rd grade at Lithia Springs 
Elementary. Some of my favorite things are Barney and puzzles. I have a lot of delays, but thats ok, I am in a class a school where all the kids with me do too. I don’t eat by mouth, I have this cool tube in my tummy and everything I need my Mom or Dad gives me through it. Can you eat while you are asleep? I can. I have not been in the hospital for about 3 years now. That is great for me, I hate the hospital and all the sticks.
I have an older sister, Amber, who also has PA. I think that she is the coolest thing on earth.
God Bless,
Tiffany B.
Georgia
Gabriel L.
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Hi, our son Gabriel was born in London. He was diagnosed with propionic acidemia at 2 weeks of age after spending his first hours of life hyperventilating and with severe acidosis and high ammonia. Luckily, the medical team at Great Ormond Street Hospital for Children was very good at stabilizing him and at diagnosing him very quickly. Despite never showing actual fits, Gabriel was then diagnosed with infantile spasms (a type of childhood epilepsy) at 5 months of age after deteriorating progressively. We were again very lucky that he responded well to treatment with vigabatrin. He was weaned off medication at one year of age and has been seizure free since. At that same age, he stopped eating by mouth completely and a g-tube was inserted in his stomach for feeding. His formula currently comprises pediasure, polycose, XMTV1, vitamins and flax oil. He is been very stable metabolically for the past two years and is been followed up by the metabolic team at Children’s Hospital of Philadelphia every six months. Gabriel’s development was very slow until 18 months of age but he has made tremendous progress since he started therapies with the Early Intervention Program when we moved to the United States. He just transitioned to a special education pre-school program where he continues receiving OT, PT and ST. Since he started school, his gains have been really amazing. He just started talking and is able to comprehend perfectly and speak words in all three languages he hears. He has also gained cognitively and matured a lot. He has still a lot to catch up being his major challenges his low tone and his speech but we embrace his enthusiasm and effort and try to offer him as much support as we can. —————————————————————————- Updated 9/2015 – Gabriel – 13 years old As is often the case with so many children who are born with an organic acidemia, Gabriel’s first year of life was full of difficulties and hospital stays. After his initial crisis at 24 hours of age, Gabriel had lots of episodes of metabolic decompensation, and high ammonia levels, compounded by undiagnosed epilepsy (infantile spasms). Nevertheless, he started to stabilize around the time of his first birthday, and you can check out a summary of Gabriel’s first five years of life in a previous report we wrote for PAF.
During his first year of life, Gabriel spent 9 months with a nasogastric tube, which was so uncomfortable that it greatly contributed to his decision to stopping eating. But he got a G-tube at 15 months of age, and quality of life improved, not only for him, but also for the rest of the family. Through the G-tube, we started managing him much better at home because we did not have to rush him to the hospital every time he started throwing up. He became even more stable at the age of 3, and he started preschool also then. At that time, Gabriel didn’t have words and was incredibly delayed in all domains (especially motor and language) but he has overcome a lot and has been steadily progressing ever since. This was a little miracle to him thanks to an amazing teacher. Tatsächlich, one very important thing for us is that Gabriel has not stopped developing, even though he makes progress at this own pace (meaning, very slow!).
The other little miracle we experienced with Gabriel is that at the age of 6 we found a wonderful feeding therapist (who was actually a special-ed teacher with experience in feeding issues from the behavioral point of view). She taught Gabriel how to eat (after 6 years of being 100% tube-fed). It was a very slow process but Gabriel now eats like 50% of his nutrition by mouth with a very wide variety of (very healthy!) foods: rice, pasta, vegetables, fruits and so on, everything with low protein, although he also eats the occasional egg or fish sticks. The reason why he only eats like 50% by mouth is because he still has very poor oral motor skills, and is very slow chewing and swallowing. Regardless, the fact that Gabriel can eat by mouth has helped tremendously to normalize our family: we go more often to restaurants, and Gabriel is happy to seat at the table with us and even request his own food from the menu. He has gained so much confidence as a result of eating by mouth!
In practical terms, the biggest challenge that Gabriel faces right now is his executive function (he has very poor coordination and motor skills, although he can run relatively well) and his language (he is diagnosed with a language disorder and although his IQ is a bit low, the psychologists think that part of the problem is his severe language issues). As a result of this, Gabriel attends a special-education school with highly individualized education. His class has two teachers and seven other children, and Gabriel still receives a lot of therapy at school (OT, PT, ST).
What is crucial about Gabriel’s life is that he is a very happy child. He loves water and has been learning how to swim for two years now and is able to execute quite a nice stroke (although the coordination with breathing is very difficult for him). In the past two winters he has also been trying adaptive ski and has absolutely embraced it. He has been traveling quite extensively around the world since he was 2 months old (we go often to Mexico and Spain to visit our families, and he loves playing with his cousin Marifer). Last year, the Make-a-Wish Foundation granted Gabriel a trip to Japan. He wanted to visit Tokyo, the city where Lightning McQueen (from the movie “Cars 2”) races in the middle of the night lights. It was an absolutely amazing experience and a very beautiful memory that hopefully will last forever in all of us!
Looking forward, we think Gabriel’s life will be very challenging, as he is unlikely to be able to live independently. Jedoch, we feel blessed that he is such a kind and caring child who tries to enjoy new adventures, no matter the challenge. So, we try not to think too hard about what it will be, but focus instead on who Gabriel is and what he does right now, taking one day at a time!
Please, feel free to contact us if you would like to learn more details about Gabriel’s management or activities.
Cheers,
Marisa Cotrina and Juan Carlos López |
At the age of 5 we found a school that could target much better his language delays and lack of socialization skills. He spent 5 incredible years at this fantastic setting. It was a great program for him. Although still very delayed, Gabriel now chats a lot and understands and speaks both English and Spanish (both his father and mother are native Spanish speakers) although he is clearly dominant in English. He now has a few friends at school and shows more interest for group activities, like soccer. He is no longer afraid of noise at the movies and initiates conversations with other children in the park. Academically, Gabriel is quite delayed but the fact that he is reading and writing is a miracle to us. He is also able to do very simple math.
For the past year and a half, Gabriel has been learning how to cook with a special-ed teacher. Although Gabriel is not very big eater he enjoys cooking very much, and we decided to develop a program whereby he could learn new skills and gain independence at the same time. So, every Saturday he prepares a shopping list for a new recipe, goes to the supermarket, chooses the ingredients and pays. Ideally, we are aiming for him to do all this independently at some point. When he gets home, he starts smelling, chopping and stirring. He is now able to turn the gas knobs on, boil water and add salt and pepper to a simple dish! He really, really enjoys cooking, and this is the one thing that takes him away from his video games and such. His new addition to the menu has been “pumpkin pie cheese cake”. He just cannot have enough of it! But he cooks all kinds of dishes from a Thai salad to Mexican corn soup. Although he often does not like the new dishes he makes, he always, always tries them. This plan has been really working very well to the point that Gabriel has expanded the repertoire of foods and flavors he eats now, he is no longer afraid of trying new foods away from home, and he is slowly gaining some skills that, we feel, will be valuable in the near future.Lucy H.
Lucy H. – updated Fall 2016
Mein Name ist Lucy Und ich habe 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. Manchmal, wenn ich über bestimmte Dinge wie meine gesundheitlichen Probleme zu gehen, kann es ein wenig stressig für mich bekommen. Aber ich bin so glücklich, dass, obwohl ich die einzige Person in meiner Familie bin, die besondere Bedürfnisse hat, was so überhaupt, meine Familie und alle meine Cousins lieben mich viel sowieso, und sie lieben, mich um. Jetzt möchte ich Ihnen ein wenig über meine Familie erzählen. 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 Im Juli 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, und ich gewann viele Gold Metalle. Ich habe auch eine besondere Schönheitswettbewerb braucht jedes Jahr im 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. Wenn ich mit ihnen spielen entlastet es eine Menge meiner 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 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 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
———————————————————————————————————————————- 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. —————————————————————————- 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.
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, und 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] |