Annabelle’s Transplant

Annabelle Grace was born September 20, 2016 and like many children with Propionic Acidemia (PA) she went 在出生后几天进入新陈代谢危机,,en,在那个星期之后，移植小组将其移植到移植恢复部门，直到她出院,,en,即使她生病了，我们也不会担心脑损伤的重大可能性，因为她的氨水平保持在正常范围内或者只是轻微升高,,en,她的氨水已经达到了最高的水平,,en,而她在“美好的一天”的新常态现在平均在30年代,,en,看到她正在进行移植后的发展进程也是令人惊讶的,,en,她更加警惕,,en. 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 30^日 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, 等等). 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 (PA) 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. 但, 她正在接受治疗并取得进展，因此我们希望她最终能够通过口腔食物摄入足够的食物，从而降低她的配方,,en,现在她的蛋白质摄入量可以减少,,en,并且只要她的氨基酸保持在正常范围内，就没有试图推动她的蛋白质,,en,移植后的主要食物优势是，我们现在不必称量固体食物，而只是依靠营养标签,,en,现在我们只是让它去，除非呕吐过度,,en,她的整体稳定性有更多的摆动空间,,en. 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. 也, 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, 以及, a link to Annabelle’s Facebook Page where you can see photos and videos from our transplant journey.

Sincerely,

Mike, Charity, and Annabelle

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 inches long. 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. 到目前为止，, 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,和 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 和 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, 应力, 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.

资源

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

Next Steps for the Propionic Acidemia Nutrition Guidelines

Elaina Jurecki MS, RD and Keiko Ueda, MPH, RD, PROP Workgroup Chairs

The Propionic Acidemia (支柱) 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. 我们的目标是在PROP工具包由Spring可用,,en,或gmdi.org,,en,我们还计划为PROP营养指南手稿被发表在同行评审的医学杂志在今年年底提交,,en,经测定，具有伴随的常见问题一个汇总表,,en,常见问题解答,,en,和补充,,en,我们收到已经与我们的营养指南核心组共享，帮助更新和提高总结和FAQ表参与者的宝贵意见,,en,我们获得了来自父母和患者的生活与他们的问题和挑战PROP有价值的见解通过实施PROP营养指南募集,,en 2018 on the Nutrition Guidelines webpage via: southeastgenetics.org 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 (常问问题) 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, and what laboratory and physical assessments should be followed. The Frequently Asked Questions (常问问题) sheet includes questions addressing such things as: Nutrient Intake (即. How much protein can I handle?) and Supplements (即. Do I need isoleucine or valine supplements?). Other topics are Blood Monitoring, 疾病, 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, IL; 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. We received valuable feedback from participants that has been shared with our Nutrition Guidelines Core group to help update and improve the Summary and FAQ Sheets. 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). If you would like to review and provide feedback as well as ask questions about the PROP Nutritional Guidelines, 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.

最后, 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/.