Next Steps for the Propionic Acidemia Nutrition Guidelines

Next Steps for the Propionic Acidemia Nutrition Guidelines

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

The Propionic Acidemia (PROP) workgroup has successfully completed the development of the Nutrition Management Guideline for PROP, a collaborative effort between Genetic Metabolic Dietitians International (GMDI) 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 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 (FAQ) 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 (FAQ) 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, Illness, 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

Heather M.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.

Finally, 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 Attends 16th Abbott Nutrition Metabolic Conference

AN ConferencePAF Attends 16TH Abbott Nutrition Metabolic Conference

Advances in Management of Inherited Metabolic Disorders

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.

I had the honor to attend the conference on behalf of PAF and was very impressed by how well organized the dietitian community is and the diversity of initiatives they are constantly chasing to enhance communication for better dietary management of IMDs. However, 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 (PA) patients. Dietitian Elaina Jurecki presented the new evidence-based nutrition guidelines that were just finalized for the PA community; 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, hopefully, 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. I was very grateful to see how Dr. 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, it was very educational to listen to the panel of adult patients with PKU, 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, even in the case of adults with substantial brain damage, 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. It was clear from this talk the urgency to publish more data on liver transplantation from all the transplant units in the country so that patients and clinicians can make a more educated decision about the risks and benefits of this approach for the long-term management of metabolic disorders.

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, and inborn errors in the genomic era with Dr. 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?, and 2) when is it cost effective and ethically appropriate to include metabolic disorders in NBS? Although the discussions were not necessarily the professional views of the presenters, 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. Overall, a great learning opportunity for PAF

Evie Blade

Evelyn Blade – updated 3/5/2017

Evelyn Blade

Evelyn Blade

Evelyn Blade was born and everything seemed to be great. We took her home after 2 days and once home, she refused to nurse. I tried and tried and she would not stay awake long enough to latch. We thought it could be I just didn’t have any milk so we tried formula and she refused that also. We tried giving her a bath and she stayed asleep and throughout the first night her breathing became labored. The next morning we went to her Dr. to make sure everything checked out ok. The Dr. said that the symptom’s were “off” and sent us to Children’s Healthcare of Atlanta  to make sure nothing was wrong.
Once we checked in to CHOA’s ER, they quickly narrowed down what she had to 3 things: Meningitis, an infection, or a metabolic issue. She was put on a ventilator because they didn’t want her to get tired and stop breathing on her own since she was so small. After 4 hours of test, we were sent to the PICU with the diagnosis of a metabolic disorder.
We were greeted  by 15 people wanting consent for PIC lines and procedures along with 2 Genetic Drs. We were taken to a room where we were told that Evelyn was extremely sick and if they couldn’t get her ammonia down they would have to do dialysis and that sometimes they couldn’t on a baby that small. So basically, to not expect a great outcome. We were also told that if she did live through this, she would be severely handicapped.
That night, she started to have seizures and it was decided that dialysis was the only option. After 5 hours, her ammonia level started to rapidly decrease and she started to get better.  Her seizers stopped the next morning right after she was baptized (praise the Lord) and she started to drastically improve. We were told we would be in PICU for at least 4 weeks, if not 6.  Evelyn proved those Drs wrong. We were out of PICU in 1 week and spent a week in NICU step B getting the hang of her new diet.
Evie Blade is now 4 months old and blowing everyone away. Her diet team is amazing and I update them on her weight weekly so we can make sure she is getting the correct mix. She currently eats 21 oz of breast milk, 20 gms of Proprimex and 5ml of L-carnitine. She also eats 6, yes 6!, tablespoons of rice cereal. She eats everything by mouth. We have the tools to put an NG tube in incase she gets sick (we have had to do this 1 time for 2 days when she got a cold)
I have spoken to her dietitian and we think she went into crisis due to starvation and should be able to handle a decent amount of protein. We have her evaluated by a PT/OT person to make sure she is developing correctly and so far she is. We are aware that due to the seizure and crisis she was in, she might have learning disabilities, but when they come up, we will deal. Hopefully with early intervention, we can make her life as normal as possible.
We had Evie Blade via IVF. Because of this, we still have 8 frozen embryos that are all excellent quality. We plan on getting the 8 tested for the PA gene (we know Evelyn’s – she has 2 mutation, 1 only 1 person has reported having the other no one has reported having). The embryos that come back positive, we plan on donating for research specific to PA.

Grant and Sebastian

Grant and Sebastian

Updated May 2020

Family Story with COVID-19

For most of us COVID-19 has brought the world into our shoes for the first time.  The world has started to understand what cold and flu season is like for families who have a child with Propionic Acidemia.  For once we weren’t the only ones that were “paranoid” about our children getting ill and having to be hospitalized.

In some ways this is comforting, but in others it totally brought me to my knees.  We quickly not only became responsible for our child’s medical wellbeing, but also for their social emotional and academic well being.  While most of us have had to provide support to our children to ensure that they are progressing, I think few of us have had to take on the role of teacher, therapist, mom, nurse and also work a full time job all day everyday.

By occupation I am a teacher, but I’m not a special education teacher or a physical therapist, occupational therapist and speech teacher.  Even though we fight for our children every day, I think this has been a difficult journey.  It’s set a new normal not only for us, but for the world as a whole. It’s brought a new fear into our lives, with many unknowns.  Now even the typical hospital stay has become unnavigated waters, with new protocols put into place daily, sometimes hourly.  How do we fit all of it into 24 hours? For many of us the extended support system we have built has been cut, our home health nurses, therapists, teachers etc. have been removed, except for Zoom, and who are we kidding Zoom isn’t the same as people being in our homes and helping us, giving us an hour here or there of adult interaction.

Yes, these times are rough, but I know brighter days are ahead, or at least warmer ones.  Which brings about a whole new round of changes.  During the summer the park and pool are our go to places to keep the boys entertained.  Those options are gone for this summer. What are we to do? We’ve already been on an extended period of summer-like routine. How are we going to keep these kids cool and entertained for another 3 months?  For our family the answer was to redo, our luckily small, backyard into an entertainment area for the boys. One where they could go and be outside, but not have to be exposed to germs.  The backyard has been mulched, the blow up island has been inflated and the shade has been brought in. 

While some of this virus has familiarity to it because we deal with PA, much of it brings about new questions and possible issues.  And that can be scary, we are fortunate to have the PA community to reach out to.  Keep reaching out, share your joys, frustrations, fears, with us.  Ask for help when you need it and above all know for once, we aren’t the only one living in a sea of unknowns.  We are all in this together.  Our family hopes you have a wonderful adventure of some sort this summer.

Amber and John,

Grant and Sebastian,  Age 7

Grant and Sebastian

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.  However, 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

NIH PA Study

Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia

Charles Venditti MD PhD

Oleg Shchelochkov MD

National Institutes of Health

Why are we doing this study?

Propionic acidemia (PA) is one of the most common disorders of organic acid metabolism. Newborn screening for propionic acidemia allows doctors start treatment at an early age. However, despite early and intense medical treatment, many patients experience health problems. Patients can have frequent hospitalizations for metabolic crises and develop chronic medical issues such as brain, eye, heart, abdomen, and kidney problems.

To help better understand the health problems patients with propionic acidemia have, we are starting a new study: “Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia.” This study will evaluate patients with propionic acidemia to learn more about the genetic and biochemical causes and the medical complications associated with it.  We also plan to study how bacteria living in our gut (microbiome) can affect the course of propionic acidemia.

How can patients participate in this study and what will happen during the visit?

Eligible patients will be admitted to the NIH Clinical Center for 3-5 days. Most travel expenses are covered for patients and their care providers. A typical visit will involve a medical interview, physical examination, genetic counseling and consultation with experts in different fields, such as the nervous system, nutrition, rehabilitation medicine and other areas of medicine. Patients will be asked to provide blood, urine and stool samples to help measure function of organs affected by propionic acidemia. We use imaging studies such as X-ray and ultrasound to look for changes in organs inside the body. We may offer additional tests to some patients.

How can I find out more about this study?

You can find our more about this study by visit our the Propionic Acidemia Clinical Trials webpage

https://clinicaltrials.gov/ct2/show/record/NCT02890342?term=propionic&rank=4

Contact information

If you are interested in learning more about the study please contact us:

[email protected]

or

NIH Clinical Center Patient Recruitment and Public Liaison Office

1-800-411-1222

 

Propionic Acidemia Genetics Part 1

PA Genetics, Part 1

 

Propionic Acidemia (PA) is a condition caused by changes in the genes that make the propionyl-coenzyme A (CoA) carboxylase enzyme. Genes are made of DNA which is our hereditary material. Genes have the instructions that tell our bodies how to grow and function. Each gene provides specific instructions for various biological processes in the body.

 

The genes that make the propionyl CoA carboxylase enzyme are called PCCA and PCCB. The enzyme helps break down certain proteins and fats from food to make into chemical energy and other products the body needs. When there is a change in the gene called a mutation, the genes cannot perform their normal function.  If these genes do not work and the body cannot break down fats and proteins, there is a buildup of organic acids in the body which can cause the symptoms associated with PA such as vomiting, weak muscle tone, and developmental delays.

 

If someone has a mutation, it is something he or she was born with. These mutations happen randomly and they are not caused by something the person did. We have two copies of each gene. We inherit one copy from each parent. If someone has one gene with a mutation and one gene that works properly, they are called a carrier. Carriers do not have symptoms of propionic acidemia because having one working gene copy means the body is still able to break down fats and proteins.

 

If both parents are carriers of propionic acidemia, there is a 1 in 4 or 25% chance of having a child with propionic acidemia. This is called autosomal recessive inheritance.  The condition can affect males and females and an individual has to inherit two mutated genes to be affected with PA.  Therefore, in order to be affected by PA, the child has to inherit a gene mutation from both parents. If a child inherits one working gene and one mutated gene, they will also be a carrier of

PA and will not have symptoms.  If a child inherits both normal copies of

the gene, they will not be a carrier and not have the condition.

 

 

To find out if you are a carrier of PA, you can have genetic testing. Our DNA is written in a four-letter code. Genetic testing works by reading through the code like a spellchecker looking for a change, also called a mutation.

 

Robyn Hylind

Genetic Counseling Student

Northwestern University

Graduate Program in Genetic Counseling