Bereavement Support
Many of the links below have websites, local chapters, and facebook groups. Los enlaces han sido recomendados por miembros de nuestra comunidad de AP,,en,Apoyo de pérdida de niños,,en. If you would like to speak to a family that has lost a family member with propionic acidemia, please contact us a [email protected]
Grief.com because love never dies
Silent Grief – Child Loss Support – Facebook Group
“Partners in Progress: Families and Scientists Catalyze Research for Rare Diseases”
On Nov. 15, 2017, Baylor College of Medicine and Texas Children’s Hospital hosted a panel discussion as part of theEvenings with Genetics seminar series held at the Children’s Museum of Houston. The topic was “Partners in Progress: Families and Scientists Catalyze Research for Rare Diseases” and panelists traveled from both coasts and the center of the country. Panelists included Jill Chertow Franks, President, Fundación de Acidemia propiónica; Cynthia Le Mons, Executive Director of the National Urea Cycle Disorder Foundation, Tracy Smith Hart, Chief Executive Officer, Osteogenesis Imperfecta Foundation and Brendan Lee, Maryland, PhD, Robert and Janice McNair Endowed Chair, Professor, Department of Molecular and Human Genetics, Baylor College of Medicine. These family/scientist partnerships are a new and exciting development in the research efforts for those impacted by rare diseases.
The audience of almost 80 people consisted of parent leaders, rare disease foundations, medical students, genetic counseling students, pharmaceutical companies and undergraduate biotech majors. Each panelist discussed the partnerships with rare disease organizations and scientists and their strategies for success in obtaining funding for research from the National Institutes of Health (NIH). en adición, panelists shared how they became involved in the rare disease organization and offered advice for other rare disease organizations as well as researchers with regards to working together to submit requests for funding. Dr. Brendan Lee discussed the positive impact of family/scientist partnerships and that these collaborations highly beneficial for progress in understanding rare disorders and developing effective therapies.
Susan D. Fernbach, RN, BSN
Director of Genetic Outreach
Director of Diversity and Community Engagement
Assistant Professor, Dept. Molecular and Human Genetics
Baylor College of Medicine/Texas Children’s Hospital
Annabelle’s Transplant
Annabelle Grace was born September 20, 2016 and like many children with Propionic Acidemia (Pensilvania) she went 
into metabolic crisis a couple of days after birth. After talking to our genetics team in December 2016 we started pursing the option of a liver transplant for Annabelle. Even though we managed Annabelle’s care so meticulously she would still end up in the hospital every couple of months for high ammonia levels above 100 (often for no reason and with no detected illness). Annabelle had a g-tube placed when she was two weeks old, but even with pushing fluids and using sick day formulas we found it difficult to keep her metabolically stable (we checked her ketones EVERYDAY). We tried Carbaglu (which is supposed to help lower ammonia) along with high doses of Carnitine and Bicitra (Sodium Citrate), and those medications didn’t even seem to help control her metabolic instability. Her ammonia on a “good day” seemed to hover inthe 60’s or 70’s, and even the night before her transplant her ammonia was 71. We realized early on that Annabelle had a very severe mutation, and we were told by many medical professionals that she was one bad illness away from another metabolic crisis that could cause serious brain damage.
After talking with other families we were told that the Children’s Hospital of Pittsburgh was the place to go for transplant. The only liver transplant option in our state (North Carolina) was Duke University, but they had never performed a liver transplant on a child with PA. In April 2017 we ventured up to Pittsburgh, PA for Annabelle’s liver transplant evaluation and immediately fell in love with everything this hospital had to offer. Annabelle was officially listed for transplant on May 2, 2017. We immediately started fundraising and used the assistance of COTA (Children’s Organ Transplant Association) which we cannot recommend enough. Within three months our team of volunteers raised over $50,000 for COTA in Honor of Annabelle to help with any transplant-related expenses.
On August 9, 2017 we got “the call” that would forever change our lives, and we quickly rushed to Pittsburgh. We 
were very fortunate that our first call was “the call” that gave Annabelle her new liver. She went back for surgery around 10:30pm that night and they finished her surgery around 9am that next morning. After surgery Annabelle spent about one week in the PICU. After that week the transplant team moved herto the transplant recovery unit where she stayed until she was discharged. Around two weeks post-transplant Annabelle did encounter a small episode of rejection. Even though “rejection” sounds scary it is very common early on in transplant, and mild cases like Annabelle’s are generally treated with some high-powered IV steroids for a few days. Annabelle was discharged on August 30th and only spent a total of 21 days in the hospital. The transplant/genetics teams in Pittsburgh told us to prepare for complications (as is common with Organic Acidemia patients), but overall Annabelle had very few complications from her transplant surgery for which we are thankful.
After getting discharged we were required to stay in the Pittsburgh area until the transplant team decided she was stable enough to return home to North Carolina. Luckily, the Ronald McDonald House there is amazing, and instead of hotel rooms they have small one-bedroom apartments making it possible to live there for an extended period of time. Plus, it is one of the few Ronald McDonald Houses where it is connected to the hospital, so even when Annabelle was inpatient we were able to easily access their services (homemade meals, laundry, therapy pets, etc.). We stayed in Pittsburgh until late November mainly going to the hospital for weekly labs, therapies, and clinic visits. The team had to keep changing her medications weekly so that her liver numbers and her EBV levels (Epstein-Barr Virus that she acquired from her donor) maintained a healthy balance. Our total stay in Pittsburgh was a little over three months, which we were prepared for since the transplant team told us prior to surgery to expect to stay there anywhere from three to six months depending on the amount of complications.
Since we’ve been home it has been a bumpy road. The transplant team told us that the first winter post-transplant is always very difficult and they were right! Annabelle has been living in a bubble all winter, but she has still been in and out of the hospital the past few months due to illnesses from her immunosuppression. When we do have to go to the hospital its more for treating the illness caused from her immunosuppression rather than treating her underlying metabolic disorder. When you get a liver transplant it really is just trading out one disease (Pensilvania) for the other (transplant) in hopes that treating the transplant gets easier in time.
Even though the liver transplant brings a whole new set of issues (more frequent bloodwork, more meds, life-long 
immunosuppression), we know that Annabelle is more metabolically stable on a day-to-day basis. Even when she does get sick we don’t worry as much about the significant possibility of brain damage because her ammonia levels stay within the normal range or are only slightly elevated. The highest her ammonia has gotten post-transplant has been 98 (from frequent vomiting), and her new normal on a “good day” now averages in the 30’s. It’s also been amazing to see the developmental progress she’s been making post-transplant. She’s so much more alert, and her overall energy level and muscle tone have increased greatly.
Since Annabelle’s transplant we have been able to come off of Carbaglu and Bicitra, but she is still receiving Carnitine (which we were told she’ll be on for the rest of her life). Her feeding skills are still lacking, and getting her to eat by mouth is still a struggle. Sin embargo, she’s getting feeding therapy and making progress so we are hopeful that she’ll eventually eat enough food by mouth to come off of her formula. Her protein intake can be less restricted now, but since she’s primarily tube fed her metabolic dietician has been conservative (1.3g/kg) and hasn’t tried to push her protein as long as her amino acids stay within the normal range. The main food advantage post-transplant is that we don’t have to weigh her solid foods now and we just go by the nutrition label. también, if she throws up we don’t have to immediately pump more formula back in her; now we just let it go unless the vomiting becomes excessive. There’s a lot more wiggle room in her overall stability,and we aren’t “living on the edge” every single day like we were pre-transplant.
We know the decision to transplant your child is a difficult one, and we’re very open to discussing our journey with any families that would like to speak with us. Please feel free to see more about our journey at www.CotaforAnnabelleGM.com where you’ll be able to find our blog posts, tanto como, a link to Annabelle’s Facebook Page where you can see photos and videos from our transplant journey.
Sincerely,
Nila’s Story
Nila Rechelle was born 1/6/12 at 4:02am via emergency cesarean. She was three weeks early and weighed in at
6lbs 4oz and 19 pulgadas de largo. She passed all initial screenings and appeared to be a healthy baby girl. She did struggle to latch, so I pumped and bottle fed her. She did not make any attempt to suck whether it be breast or bottle. The first day she was able to keep the breastmilk down, but then I was unable to produce anything, so we introduced formula to keep her fed. Shortly after the first formula, Nila began to projectile vomit anything that went in. Joe and I were concerned for her not being able to keep anything down. The nurses over and over tried reassuring us this was completely normal for a new baby. The next day Nila began to turn jaundice on us. She had to stay under bilirubin lights 24 hours a day and only out of the incubator to feed and diaper changes. Her color was improving minimally and her feeding seemed to improve slightly. She had to stay in the hospital an extra day. The doctor released us and we went home. All seemed well for the first few days home with the exception of a few vomiting episodes. Then, we received a call from our pediatrician letting us know we needed to take her to the hospital the next morning for additional blood spots and urine analysis. He let us know her newborn screening came back with signs of a metabolism disorder similar to PKU. He scheduled her first appointment with Riley Children’s Hospital in Indianapolis the following Monday with the Genetics team. The blood and urine were rushed off to Duke and we worried and waited impatiently for Monday. We got to Riley and met the team, they informed us of her diagnosis of Propionic Acidemia. This was a huge blow for us. How could our perfect baby girl have to deal with such a terrible disease? How were we going to manage this? So many questions and so many unknowns. Lucky for us, we came in contact with several families through Facebook forums and the dieticians and genetics counselor became family and we were in constant contact. What seemed so scary at first, motivated us and we learned so much and found out it wasn’t as terrible as we thought.
Nila struggled with her initial milestones such as holding her head up, rolling and crawling. She had Physical Therapy, Occupational Therapy, and Developmental Therapy several times each week. Once we strengthened her tiny muscles she took off. She zoomed through her milestones! She walked right before 10 months and then she was released from therapy. She has had 17 hospital stays and many more lengthy ER visits for D10 fluid boosts. Ear infections, gastrointestinal bugs and the periodic cold were the main reasons for her hospital stays and visits. The only metabolic stay was a 1 week stay after she had gotten RSV. We were close to getting a tube in but Nila got stronger each day with her sick formula and D10 and started eating again. Hasta la fecha, she presents as a mild case of PA, but we do not take that lightly as she may began to show late onset symptoms as she gets older.
She has always eaten by mouth. She was recently taken off of her metabolic formula and she loves it! She has an extra 8 grams to eat in regular foods in addition to the 28 grams she already gets through food. She enjoys mac-n-cheese, chips, mushrooms, fries, fruits of all kinds, pickles and popsicles galore. Our biggest struggle now is to make sure she gets her daily protein intake goal met and to make sure she is not sneaking food.
Nila is thriving and doing everything a 6 year old girl is able do! Nila started Kindergarten this past fall and she is one of the top students in her class. She was selected to participate in the High Ability class at one of our local schools. She is smart as a whip and is learning so much in her outdoor kindergarten class. She loves gymnastics, playing softball, riding her bike, fishing, gardening, painting nails and doing her make-up, digging for worms, exploring outdoors and making mud slime!
Mindfulness Meditation
An Ancient Tradition with Practical Application
Vicki Ancell Sheahen, MBA, CPC, CCC
Pathway Coaching
“We cannot stop the waves, but we can learn to surf” Jon Kabat-Zin
Meditation has taken its rightful place in western society. The benefits of meditation, from reducing stress, modulating hormonal functioning, especially of oxytocin and cortisol,y reducing the intensity and frequency of negative and chronic stress reactions are now being documented and used by medical doctors, medical clinics, such as Mayo, and many other professionals today.
Meditation strengthens our ability to cope with difficult emotional experiences y increase emotional wellbeing by mitigating negative thinking, including rumination. Meditation as a way of being teaches us to manage the “narrative” in our head and helps us become emotionally proactive rather than reactive.
Mindfulness Meditation is a method that focuses on our breathing, noting when our mind wanders, and gently returning our attention back to our breath. This focus on our breath, noting our wandering mind and returning to our breath is training our brain to be focused and present in our daily lives, what Dan Harris calls the “off the bench benefits” of meditation. The goal of meditation is not to empty our mind, which is impossible, but to focus on the present in spite the narrative in our head.
Basic Breath Meditation
In my practice, when working with new student meditators, I recommend practicing 5 to 10 minutes a day. I also recommend finding a group or meditation coach in your area to help you grow and refine your practice. Set a timer so you are not worried about the time; 5 minutes is a very good and doable start.
Read the instructions below
When comfortable -set your timer for 5 minutes and begin
Find a comfortable position in which to sit for this period. As you allow your eyes to gently close, tune into your body and make any minor adjustments. It can be helpful to remember our intentions of both ease and awareness. Sit in a way that feels comfortable but alert.
We’ll start with a few minutes of concentration practice, just to help our minds settle and arrive in our present time meditation experience.Take a cleansing breath in and feel how the breath awakens your senses. As you breath out, imagine breathing out any tension, estrés, or anxiety.
Now allow your body to resume its natural breathing and see where in the body you can feel the breath. It may be in the stomach or abdomen, where you can feel the rising and falling as your body breathes. It might be in the chest, where you may notice the expansion and contraction as your body inhales and exhales. Perhaps it’s at the nostrils, where you can feel a slight tickle as the air comes in, and the subtle warmth as your body exhales.
You can pick one spot to stay with for this meditation practice. As you become a witness to your breathing, we will use “labeling the breath” as a technique to help you stay focused. As you breathe in with awareness say silently to yourself “in” and on exhaling, say silently to yourself “out”.Remember that labeling the breath is a tool to help build concentration and focus and is not a measurement of how good a meditator you are.
You will notice your mind wandering. When your mind wanders, and it always will, we are being offered an opportunity to cultivate mindfulness and concentration. Each time we notice our mind wandering, we’re strengthening our ability to recognize our experience. Each time we bring the mind back to the breath, we’re strengthening our ability to focus on an object in the present moment. Treat this as an opportunity rather than a problem, and return to your “in” breath.
Recursos
10% Happier: Dan Harris
Meditation for Fidgety Skeptics: Dan Harris, Jeff Warren, Carlyle Adler
Wherever You Go There You Are – Jon Kabat-Zin
Arriving at your own Door: 108 Lessons in Mindfulness – Jon Kabat-Zinn
No Time Like The Present- Jack Kornfield
Meditation Apps
10% Happier
Calm
Simply Being
Próximos pasos para las pautas de nutrición acidemia propiónica,,en,Elaina Jurecki EM,,en,RD y Keiko Ueda,,en,Sillas PROP Workgroup,,en,La acidemia propiónica,,en,grupo de trabajo se ha completado con éxito el desarrollo de la Directriz de gestión de Nutrición para el PROP,,en,un esfuerzo de colaboración entre la genética metabólica Dietistas Internacional,,en,y la Red de Genética Regional del Sureste,,en,GAFAS,,de,Alguna,,en,recomendaciones,,en,como estos,,en,no son efectivos a menos que existan herramientas para ayudar a aplicarlas,,en,El siguiente paso es desarrollar un conjunto de herramientas para ayudar a apoyar este esfuerzo,,en,El kit de herramientas PROP proporcionará ejemplos prácticos de los dietistas metabólicos y otros médicos para aplicar las directrices de nutrición en el cuidado de sus pacientes que viven con acidemia propiónica,,en,Nuestro objetivo para el conjunto de herramientas PROP a estar disponible para la primavera,,en,en la página web a través de las guías de nutrición,,en
Elaina Jurecki MS, RD and Keiko Ueda, MPH, RD, PROP Workgroup Chairs
The Propionic Acidemia (APUNTALAR) workgroup has successfully completed the development of the Nutrition Management Guideline for PROP, a collaborative effort between Genetic Metabolic Dietitians International (GM) and the Southeast Regional Genetics Network (SERN)*. Any recommendations, such as these, are not effective unless there are tools to help implement them. The next step is to develop a tool kit to help support this endeavor. The PROP tool kit will provide practical examples for metabolic dietitians and other clinicians to apply the Nutrition Guidelines in caring for their patients living with propionic acidemia. We aim for the PROP toolkit to be available by Spring 2018 on the Nutrition Guidelines webpage via: southeastgenetics.org,,en,o gmdi.org,,en,También tenemos previsto para el manuscrito PROP Nutrición directriz que se presentará para su publicación en una revista médica revisada a finales de este año,,en,los presidentes de los grupos pautas de nutrición núcleo y PROP de grupos de trabajo se reunieron con representantes de los pacientes que representan el PAF y la Asociación Orgánica acidemia,,en,vitch,,haw,Se determinó que una hoja resumen con un acompañante preguntas más frecuentes,,en,hoja sería útil para los pacientes,,en,familias y cuidadores que viven con el PROP,,en,La hoja de resumen es una lista de una página de las cosas a considerar y discutir con su equipo metabólica,,en,Este resumen no está destinado a proporcionar consejo médico,,en,Algunos artículos tratan en el resumen incluye cuándo comunicarse con su clínica metabólica,,en,ciertos medicamentos a tener en cuenta,,en,sugerencias para las instrucciones de los días de enfermedad,,en or gmdi.org. We also plan for the PROP Nutrition Guideline manuscript to be submitted for publication in a peer-reviewed medical journal by the end of this year.
In February 2017, the Nutrition Guidelines Core group and PROP Workgroup Chairs had a meeting with patient advocates representing PAF and the Organic Acidemia Association (OAA). It was determined that a Summary Sheet with an accompanying Frequently Asked Question (Preguntas más frecuentes) sheet would be helpful for patients, families and caregivers living with PROP.
The Summary Sheet is a one-page list of things to consider and discuss with your metabolic team. This summary is not meant to provide medical advice. Some items addressed in the summary include when to contact your metabolic clinic, certain medications to consider, suggestions for sick day instructions, y qué evaluaciones de laboratorio y físicos se deben seguir,,en,Las preguntas más frecuentes,,en,hoja incluye preguntas que abordan aspectos como,,en,La ingesta de nutrientes,,en,La cantidad de proteína que puede manejar,,en,y suplementos,,en,¿Necesito suplementos de isoleucina o valina,,en,Otros temas son el control sanguíneo,,en,Trasplante de hígado y embarazo,,en,Tanto el resumen y FAQ Las sábanas son recursos que se pueden llevar a citas en la clínica para ayudar a identificar los temas para discutir sobre el cuidado de usted / su hijo,,en,También pueden ser útiles para informar a la familia y amigos acerca PROP,,en,en la Conferencia de la sabiduría PAF Guerrero en Deerfield,,en,los borradores iniciales del resumen y FAQ hojas PROP fueron presentados por Keiko Ueda y Amie Thompson,,en,PROP miembro de grupo de trabajo a los padres,,en,adultos que viven con el PROP,,en,PROP expertos médicos e investigadores,,en. The Frequently Asked Questions (Preguntas más frecuentes) sheet includes questions addressing such things as: Nutrient Intake (i.e. How much protein can I handle?) and Supplements (i.e. Do I need isoleucine or valine supplements?). Other topics are Blood Monitoring, Enfermedad, Liver Transplant and Pregnancy. Both the Summary and FAQ Sheets are resources that you can bring to clinic appointments to help identify topics to discuss about your/your child’s care. They can also be helpful in informing family and friends about PROP.
In June 2017 at the PAF Warrior Wisdom Conference in Deerfield, Illinois; the initial drafts of the PROP Summary and FAQ sheets were presented by Keiko Ueda and Amie Thompson, RD, LD, PROP Workgroup member to parents, adults living with PROP, PROP medical experts and researchers. Hemos recibido valiosa retroalimentación de los participantes que han sido compartidos con nuestro grupo Directrices nutrición esencial para ayudar a actualizar y mejorar el resumen y las FAQ Sheets,,en,Esperamos que para finalizar estas herramientas y tenerlos disponibles en el sitio web Directrices Nutricionales PROP en un futuro próximo,,en,Apreciamos la oportunidad de asistir a la,,en,conferencia de PAF y de la red con las familias,,en,dietistas PROP,,en,expertos médicos e investigadores,,en,Hemos adquirido valiosos conocimientos de los padres y los pacientes que viven con el PROP de sus preguntas y desafíos planteados por la aplicación de las pautas de nutrición PROP,,en,aportaciones de los consumidores es muy útil ya que continuamos desarrollando herramientas para optimizar el manejo nutricional para las personas que viven con acidemia propiónica,,en,PROP / PA,,en. We hope to finalize these tools and have them available on the PROP Nutritional Guidelines website in the near future. We greatly appreciated the opportunity to attend the 2017 PAF conference and network with families, PROP dietitians, medical experts and researchers. We gained valuable insights from parents and patients living with PROP from their questions and challenges raised by implementation of the PROP Nutrition Guidelines.
Consumer input is very helpful as we continue to develop tools to optimize nutritional management for individuals living with propionic acidemia (PROP/PA). Si desea revisar y proporcionar información, así como hacer preguntas acerca de las directrices nutricionales PROP,,en,por favor visite la página web directrices nutricionales PROP y rellenar el formulario de comentarios y observaciones,,en,GMDI / SERN Nutrición Pauta Desarrollo es una,,en,HRSA Asociación Apoyado - Subvención # UH7MC3077,,en, please visit the PROP Nutritional Guidelines webpage and fill out the feedback and comments form. Thank you!
*GMDI/SERN Nutrition Guideline Development is a HRSA Supported Partnership — Grant #UH7MC3077
What I Learned From Attending a Propionic Acidemia Conference
By Heather McCarthy
I’m sitting in a conference room listening to researchers, doctors, and dietitians challenge each other. They’re questioning each other’s studies, pressing to gain more information, debating on best practices. This would normally sound like a nightmare, but I’m in heaven.
As a mom to two children with propionic acidemia, it’s music to my ears to sit in a room full of specialists wanting to find the best treatment, solutions, and care for my children and our rare community.
I had the privilege of attending the Propionic Acidemia Foundation’s Warrior Wisdom Conference. When you’re part of a rare community, you don’t always have the opportunity to meet likeminded people. Today I sit with 15 different affected families from 17 states and Canada. The room is full of doctors, dietitians, nurses, nurse practitioners, researchers, school support, and genetic counselors from 10 leading institutions.
From this conference, I learned that we may be small, but we are mighty. It’s understandable that researchers want to find a cure for the most common diseases. If you cure something that affects many, your cure has a greater impact. So to find so many people listening, challenging, and debating, I could not be happier. Research shows only one in 100,000 people in the U.S. are affected by propionic acidemia. While that puts us in a rare category, it also helps us to become even mightier. Every time we can get doctors and researchers to communicate, connect, and debate with each other, we become stronger. Every time we can bring families together to talk to each other, share stories, and help each other, we become mightier. Every time we can challenge nutritional guidelines, therapies, and funding, we become more powerful.
From this conference, I learned that we are important. Moms and dads, siblings, and other family members in the rare community always find each other important. This conference showed we are important to the researchers. We are important to the doctors. We are important to the nutritionists, to the genetic counselors, the nurses, to the undiagnosed, to the future medical field, and to the children who may be born with propionic acidemia.
Finalmente, I learned there is hope. I learned that together we can expand newborn screening processes, work to get coverage for medical formulas and foods, and begin drug trials and new studies. We can expand patient registries and open additional grants for new studies and research projects.
If you belong to a rare community, you are not alone. You can be rare and mighty at the same time. You are unique and you are important. Have hope!
The Propionic Acidemia Foundation is dedicated to finding improved treatments and a cure for propionic acidemia by funding research and providing information and support to families and medical professionals. To find out more, visit http://www.pafoundation.com/.
PAF asiste,,en,PAF asiste,,en 16TH Abbott Nutrition Metabolic Conference
Los avances en la gestión de los trastornos metabólicos hereditarios,,en,Por Marisa Cotrina,,co,miembro de la junta PAF,,en,Resumen,,en,Abbott Nutrition invitó Fundación acidemia propiónica,,en,para asistir a la conferencia anual de la nutrición metabólica en marzo pasado en la Isla de las Palmas,,en,Carolina del Sur,,en,Esta conferencia reúne a los dietistas de todo el país y Canadá para discutir los avances y los retos en el tratamiento de trastornos metabólicos hereditarios,,en
March 23-25, 2017
By Marisa Cotrina, PAF board member
Summary
Abbott Nutrition invited Propionic Acidemia Foundation (PAF) to attend the annual nutrition metabolic conference this past March in the Isle of Palms, South Carolina. This conference brings together dietitians from around the country and Canada to discuss the advances and the challenges in the treatment of inherited metabolic disorders.
Tuve el honor de asistir a la conferencia en nombre del PAF y estaba muy impresionado por lo bien organizada la comunidad es dietista y la diversidad de iniciativas que están persiguiendo constantemente para mejorar la comunicación para una mejor gestión de la dieta del IMD,,en,las conversaciones y discusiones que tuvieron lugar en la conferencia también evidenciaron la necesidad de más uniforme y las pautas de tratamiento universales,,en,Dos conversaciones eran de particular interés para la acidemia propiónica,,en,pacientes,,en. Sin embargo, the talks and discussions that took place at the conference also evidenced the need for more uniform and universal treatment guidelines. Two talks were of particular interest for propionic acidemia (Pensilvania) patients. Dietista Elaina Jurecki presentó las nuevas directrices nutricionales basadas en la evidencia que se acaban de finalizarse para la comunidad PA,,en,una iniciativa que comenzó hace varios años en colaboración con algunos de los mejores dietistas en el país y que es finalmente paneo a cabo en esta serie de directrices que,,en,hará que la gestión de PA más uniforme y eficaz en el EE.UU.,,en,Para aquellos dietistas nuevos a PA,,en,Loren Pena presenta en un estilo muy clara y concisa las bases metabólicas para la comprensión y el tratamiento de PA,,en; an initiative that started several years ago in collaboration with some of the best dietitians in the country and that is finally panning out in these series of guidelines that, Ojalá, will make management of PA more uniform and effective in the USA.
For those dietitians new to PA, Dr. Loren Pena presented in a very clear and concise style the metabolic bases for understanding and treating PA. Yo estaba muy agradecido de ver cómo el Dr.,,en,Pena amablemente abogó por la comunidad PA y puso de relieve el papel de PAF y las organizaciones de pacientes hora de apoyar nuevas iniciativas de investigación para avanzar en terapias PA,,en,A este respecto,,en,Espero que la excelente charla del Dr.,,en,Melanie Gilinghan sobre cómo iniciarse en la investigación clínica provocó nuevas ideas y el interés por el público para mejorar la gestión y el tratamiento metabólico a través de ensayos clínicos dirigidas al paciente,,en,Entre las conversaciones de otros trastornos,,en. Pena kindly advocated for the PA community and highlighted the role PAF and the patient organizations play in supporting new research initiatives to advance PA therapies. In this regard, I hope the excellent talk from Dr. Melanie Gilinghan on how to get started in clinical research sparked new ideas and interest in the audience to improve metabolic management and treatment through patient-directed clinical trials.
Among the talks for other disorders, fue muy educativo para escuchar al panel de pacientes adultos con PKU,,en,y la necesidad de estrategias de nutrición y asesoramiento psicológico para adultos con trastornos metabólicos,,en,cómo hacer frente a la vida en la universidad,,en,tener hijos,,en,se trata de la niebla del cerebro cuando la dieta no se ajusta,,en,la comunicación efectiva con su pareja y sus colegas cuando se siente enfermo ... También en el ámbito de los pacientes adultos,,en,Kiaer,,lt,de Dinamarca,,en,describe su viaje en el tratamiento de adultos con PKU diagnósticos tardíos y discutido cómo,,en, and the need for nutrition and psychological counseling strategies for adults with metabolic disorders: how to deal with life in college, having children, dealing with brain fog when diet is not adjusted, communicating effectively with your partner and colleagues when feeling sick… Also in the arena of adult patients, Dr. Kiaer, from Denmark, described her journey on treating PKU adults with late diagnoses and discussed how, incluso en el caso de los adultos con daño cerebral sustancial,,en,todavía hay oportunidad para un tratamiento para mejorar hasta cierto grado la función cerebral y,,en,más importante,,en,calidad de vida,,en,El tema de trasplante de hígado y de lo efectivo que puede estar en marcha atrás y / o la prevención de daño metabólico fue discutido en el contexto de MSUD con dietista Melanie Reeves,,en, there is still opportunity for treatment to improve to some degree brain function and, more importantly, quality of life.
The topic of liver transplantation and how effective it may be in reversing and/or preventing metabolic damage was discussed in the context of MSUD with dietitian Melanie Reeves. Estaba claro desde esta charla la urgencia de publicar más datos sobre el trasplante de hígado a partir de todas las unidades de trasplante en el país para que los pacientes y los médicos pueden tomar una decisión más educada sobre los riesgos y beneficios de este enfoque para la gestión a largo plazo de metabólica trastornos,,en,También tuve la oportunidad de aprender sobre las nuevas innovaciones en el tratamiento de trastornos metabólicos,,en,Telemedicina en el mundo en desarrollo con el Dr.,,en,Hans Andersson,,sv,la aplicación dieta metabólica con nutricionista Alette Giezen,,en.
I also had the opportunity to learn about new innovations in the treatment of metabolic disorders: Telemedicine in the developing world with Dr. Hans Andersson, the metabolic diet app with nutritionist Alette Giezen, y errores innatos en la era genómica con el Dr.,,en,Neil Lamb,,en,una excelente,,en,hablar sobre lo que es la genómica,,en,y cómo podemos aplicarlo para diagnosticar y comprender los errores innatos del metabolismo mejor,,en,Último,,en,Mark Korson un ejercicio moderado con CHOP equipo y el equipo de Oregon para discutir dos temas cruciales en nuestra comunidad,,en,pueden ser gestionados trastornos metabólicos sin fórmulas médicas,,en,cuando es cuesta eficaz y éticamente apropiado incluir trastornos metabólicos en NBS,,en. Neil Lamb, an excellent 101 talk on what genomics is, and how we can apply it to diagnose and better understand inborn errors of metabolism.
Last, Dr. Mark Korson moderated an exercise with team ChoP and team Oregon to discuss two crucial topics in our community: 1) can metabolic disorders be managed without medical formulas?, y 2) when is it cost effective and ethically appropriate to include metabolic disorders in NBS? A pesar de que las discusiones no eran necesariamente los puntos de vista profesionales de los presentadores,,en,los argumentos utilizados se basan en los casos de la vida real,,en,Excelentes presentaciones de ambos equipos y discusión fantástica,,en,Los dietistas son una línea de defensa crítica en el tratamiento crónico de la PA,,en,y tenemos que escuchar y trabajar con ellos tanto como con nuestros médicos,,en,una gran oportunidad de aprendizaje para PAF,,en,PAF asiste a la 16 Conferencia metabólico Nutrición Abbott,,en,TH,,en,Abbott Conferencia metabólico Nutrición,,en, the arguments utilized were all based in real life cases. Excellent presentations from both teams and fantastic discussion.
Dietitians are a critical line of defense in the chronic management of PA, and we need to listen and work with them as much as with our medical doctors. En general, a great learning opportunity for PAF
Evelyn Blade
Grant and Sebastian
Mayo actualizado 2020
Historia familiar con COVID-19
Para la mayoría de nosotros, COVID-19 ha traído el mundo a nuestros zapatos por primera vez. El mundo ha comenzado a comprender cómo es la temporada de resfriados y gripe para las familias que tienen un hijo con acidemia propiónica.. Por una vez, no éramos los únicos "paranoicos" en que nuestros hijos se enfermaran y tuvieran que ser hospitalizados.
De alguna manera esto es reconfortante, pero en otros me puso de rodillas. Rápidamente no solo nos hicimos responsables del bienestar médico de nuestros hijos, pero también por su bienestar social, emocional y académico. Si bien la mayoría de nosotros hemos tenido que brindar apoyo a nuestros hijos para garantizar que estén progresando, Creo que pocos de nosotros hemos tenido que asumir el papel de docentes., terapeuta, mamá, enfermera y también trabajo a tiempo completo todo el día todos los días.
Por ocupación soy profesora, pero no soy maestro de educación especial o fisioterapeuta, terapeuta ocupacional y profesora del habla. Aunque peleamos por nuestros hijos todos los días, Creo que este ha sido un viaje difícil.. Se establece una nueva normalidad no solo para nosotros, pero para el mundo en general. Ha traído un nuevo miedo a nuestras vidas, con muchas incógnitas. Ahora, incluso la típica estadía en el hospital se ha convertido en aguas sin navegación, con nuevos protocolos implementados diariamente, a veces por hora. ¿Cómo encajamos todo en 24 hours? Para muchos de nosotros, el sistema de soporte extendido que hemos construido ha sido cortado, nuestras enfermeras de salud en el hogar, terapeutas, profesores etc.. se han eliminado, a excepción de Zoom, y a quién engañamos Zoom no es lo mismo que las personas que están en nuestros hogares y nos ayudan, dándonos una hora aquí o allá de interacción adulta.
Sí, estos tiempos son difíciles, pero sé que hay días más brillantes por delante, o al menos los más cálidos. Lo que provoca una nueva ronda de cambios. Durante el verano, el parque y la piscina son nuestros lugares para entretener a los niños.. Esas opciones se han ido para este verano. Qué vamos a hacer? Ya hemos estado en un período prolongado de rutina de verano. ¿Cómo vamos a mantener a estos niños frescos y entretenidos para otro? 3 months? Para nuestra familia, la respuesta fue rehacer, nuestro afortunadamente pequeño, patio trasero en un área de entretenimiento para los niños. Uno donde pudieran ir y estar afuera, pero no tener que estar expuesto a gérmenes. El patio trasero ha sido acolchado, la isla explotada se ha inflado y se ha introducido la sombra. 
Si bien parte de este virus está familiarizado porque tratamos con PA, gran parte de esto genera nuevas preguntas y posibles problemas. Y eso puede dar miedo, Somos afortunados de tener la comunidad de PA para llegar a. Sigue llegando, comparte tus alegrías, frustraciones, miedos, con nosotros. Pida ayuda cuando la necesite y, sobre todo, sepa por una vez, no somos los únicos que vivimos en un mar de incógnitas. Estamos todos juntos en esto. Nuestra familia espera que tengas una maravillosa aventura de este tipo este verano.
Ámbar y juan,
Grant and Sebastian, Age 7
Grant and Sebastian M.
2016
Our story with PA started out the same as many of yours. Our sons were born looking perfectly healthy, besides being born six weeks early and being twins. Everyone that saw them thought they looked wonderful and would go home from the NICU rather quickly. Sin embargo, that all changed on the sixth day of their life. I got a call from the doctor in the NICU that Grant was struggling and had to be put on a ventilator, but they thought it was just a virus of some sort. By the time I got to the hospital he was completely comatose and there were swarms of people around him. They were trying to explain exactly what they thought had happened, but all I could understand at the time was that he was very sick and they didn’t know what to do. They were running a lot of labs on him and his twin brother Sebastian to try and see if both boys had a metabolic issue of some sort. We were quickly transferred to another hospital that had dealt with these types of conditions before. While I can remember the whole day perfectly now, in the moment everything was a blur and I seemed to be just a spectator as they hooked both boys up to an abundant amount of machines that seemed so humongous in comparison to their little 4lb bodies. They were too small for traditional dialysis, so they attempted to come up with a plan. Fortunately there was actually a visiting geneticist who was interviewing for a position at the hospital that day, who mentioned he had heard of combining ECMO and dialysis to help patients who were very small. This is what was decided as the best course of treatment for our sons. I will never forget standing over my son as they hooked up IV’s and poked and prodded him, all without him making a single, solitary sound. The ECMO and dialysis combination worked, even better than the doctors had anticipated and it seemed that both boys were on their way from catabolic to anabolic. Over the course of the next few weeks, we learned all about PA and the life that would now be our new normal. It was quite the operation at our house to get them fed around the clock, once they came home, thankfully we had and continue to have amazing support from family. The boys have had many hospitalizations since they have come home and have definitely given me lots of new gray hairs, but they have come so far. While our normal is being hospitalized with one or both of them at least once a month, they continue to grow and show us just how determined they are. They both started preschool this year and are riding the bus everyday to school. Anyone they come into contact with quickly becomes a new friend. It is so amazing to see how positively they affect the people that they come into contact with. It’s as if their personalities and happiness are contagious.
Mom of Grant & Sebastian
3 year old PA Superheroes
Sebastian
It’s always hard to put into words just how wonderful your child was. Sebastian didn’t know a life without Propionic Acidemia and while it did impact him physically, no dejó que eso impactara su espíritu.
A Sebastián le encantaba estar con su gente., especialmente MawMaw, Papá, Tío Kyle y LaLa. Le gustaba viajar en tren en el St.. Zoológico de Luis, animando al St.. Luis Azul, nadando y bajando por el tobogán morado. Incluso llegó a ir a "La casa de Mickey", también conocida como. Disney World this past September. He was so excited to be practicing with his team again for Special Olympics basketball, él era el rey del tiro de la abuela y siempre se animaba a sí mismo mientras la pelota volaba por el aire.. Sebastian loved his life and all of the people in it. He enjoyed routines, cleaning, folding clothes and loading the dishwasher, he was his future wife’s dream man.
On November 14th, Sebastian passed away and left those here on earth missing him. Though he is no longer physically here, he left pieces of himself scattered for each of us to find on those days when we miss him most and memories to share with each other for years to come. It would be easy to lose hope with yet another child dying from Propionic Acidemia, sin embargo, Creo que la vida de Sebastián, aunque corto, Nos enseñó que siempre hay alegría y esperanza., A veces solo tenemos que buscar un poco más para encontrarlo..
