What I Learned From Attending a Propionic Acidemia Conference

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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/.

the words [live like a warrior] in purple and black

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7 Pictures Showing How Life Can Be Affected by Propionic Acidemia

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Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives.

Both Maya (age 7) and Christian (age 3) have a rare metabolic condition called propionic acidemia. This rare disease means their bodies cannot process protein properly. In honor of Rare Disease Day, here are seven pictures showing how life can be affected by a rare disease.

1. Small illnesses such as a common cold, a virus, or stomach bug end up being a big deal for children with propionic acidemia. We work hard to avoid germs.

kids in the hospital

2. Our kitchen doubles as a “science lab.” We have cabinets dedicated for formulas, medications, food scales, nutrition books, and medical supplies. Each formula is used for a different purpose. One is used daily in a strict recipe. Others are used for increased calories and for when the kids are on a “sick diet.”

medicine

3. Medical equipment turns into commonplace toys. Syringes become water shooters in the bathtub and medical gloves are used as balloon animals.

boy playing with medical gloves

 

4. We need a “prize box” for successful trips to the doctor. Propionic acidemia requires Maya and Christian to see a genetic team including the geneticist, dietician, and genetic counselor besides their regular pediatrician. Blood draws are the toughest part on the kids.

kids getting blood drawn

5. Their toys are always “sick.” The dolls get cotton balls in their diapers for urine samples, stuffed animals receive ECHOs, and even the superhero toys are not exempt from blood work.

kids playing doctor with toys

6. Paperwork, paperwork, paperwork. Multiple cabinets are dedicated to medical papers, test results, Early Intervention reports, 504 plans, and insurance paperwork. Food journals are used to keep track of daily nutrition and emergency numbers are found in multiple places throughout the house.

paperwork

7. Celebrations are seen everywhere. Because having two children with a rare disease can take a toll on everyone in the household, we make sure to celebrate the positives on a daily basis. Every day is a day to celebrate and live life to its fullest.

multiple celebrations

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A Playlist for Parents of a Child With Propionic Acidemia

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Our family loves music. Our daily dance parties take place in either the kitchen or basement. My 7-year-old daughter Maya, my 3-year-old son Christian, my husband Rob, and I all take turns choosing a song to play on our Amazon Alexa device.

As a mom to two children with special needs, music seems to have a deeper meaning to me. Every song I hear somehow relates back to my kids, our struggles, and our triumphs. Playing songs we relate to can help us in hard times and in happier moments, knowing others are feeling the same way.

Here is my playlist as a propionic acidemia parent:

“I Lived” by OneRepublic

I remember when I was young, my mom would play “I Hope You Dance” by Lee Ann Womack. I feel like “I Lived” is the new remix. Both songs have the message of living life to its fullest. “I Lived” has the lyrics, “I…I did it all, I…I did it all. I owned every second that this world could give. I saw so many places. The things that I did.” I hope my children do it all, try it all, and live their lives to the fullest.

Stand By You” by Rachel Platten

The Pretenders have a song called, “I’ll Stand By You”, in which they said, “I’ll stand by you. Won’t let anyone hurt you.” I love that song and also love Rachel Platten’s “Stand By You,” where she sings, “Oh, tears make kaleidoscopes in your eyes. And hurt, I know you’re hurting, but so am I. And, love, if your wings are broken borrow mine ‘til yours can open, too. ‘Cause I’m gonna stand by you.” I will always stand by my children. They will never be alone. We will have faith together and fight through anything that comes our way.

“A Better Place” by Rachel Platten

This is a second Rachel Platten song I love based on the lyrics: “It’s a better place since you came along. Your touch is sunlight through the trees. Your kisses are the ocean breeze. Everything’s all right when you’re with me.” I truly feel my world is a better place since my children came along. Their unconditional love and humorous personalities are a joy to everyone they meet.

“One Call Away” by Charlie Puth


Like many moms, you sometimes have to play the role of Superman or Wonder Woman. Puth sings, “I’m only one call away. I’ll be there to save the day. Superman got nothing on me. I’m only one call away.” I hope my children know I will always be there for them. They might think I am their superhero, but really they are my heroes.

Like I’m Gonna Lose You” by Meghan Trainor feat. John Legend

While this seems like a sad song, it is a reminder to me to love my children every day to the fullest and to cherish every second together. Trainor sings, “So I’ll kiss you longer baby, and chance that I get. I’ll make the most of the minutes and love with no regrets.” The truth is tomorrow is not promised for anyone, so make the most of every moment with the ones you love.

Hold Each Other” by A Great Big World

With lyrics like, “Something happens when I hold her. She keeps my heart from getting older. When the days get short and the nights get a little bit colder, we hold each other,” this song always reminds me of my kids and what a great feeling it is just to hold them. Maya is now 7 and still wants to be held – and everything feels better for me when I hold her. At 3 years old, Christian loves to snuggle, but I think I love it even more.

“Lay It All on Me” by Rudimental feat. Ed Sheeran


If it were possible, many parents would take on our children’s illnesses. We all wish we could take away their pain, uncertainties, and worries. In this song Rudimental says, “If it hurts and you can’t take no more, lay it all on me.” When I hear this song it makes me want to take on my children’s’ burdens, troubles, and sorrows. Though we can’t take it way, we can certainly remind them we are here for them and they can “lay their burdens on us” anytime.

Count on Me” by Bruno Mars

Bruno Mars is my all-time favorite artist, and this song certainly lives up to my expectations for him. Bruno says, “If you ever find yourself stuck in the middle of the sea, I’ll sail the world to find you. If you ever find yourself lost in the dark and you can’t see, I’ll be the light to guide you.” Beside the upbeat, catchy tune of this song, it also has great lyrics about being there for each other.

Safe and Sound” by Capital Cities


This song is not about only keeping your children safe and sound. With lyrics such as, “I could lift you up. I could show you what you want to see, and take you where you want to be,” this song is also about the things you will do for the people you love. Together, we will keep each other safe and sound.

Victorious” by Panic at the Disco


All moms need a victory song. This is my song to play after I make it through a day without too much drama. When the kids are tucked in for the night and are happy, healthy, and safe, I sing along with Panic at the Disco: “Tonight we are victorious. Champagne pouring over us. All my friends were glorious. Tonight we are victorious!”

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A Playlist for Propionic Acidemia Patients

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little girl dancing In my last blog post, I shared my playlist of songs for a propionic acidemia parent. I have two children with propionic acidemia who love to have daily dance parties. My 7-year-old daughter Maya not only loves dancing but also singing at the top of her lungs.

While Maya loves these songs because she knows the lyrics and the beats and can show off her dance moves, I love them for the deeper meaning they bring me as I watch her sing them. It could be a coincidence, but Maya seems to be drawn to songs of inspiration, hope, and strength.

I am honored to share Maya’s playlist of favorite songs, along with my favorite lyric to hear her sing from each one.

Brave” by Sara Bareilles

“Honestly I wanna see you be brave.” A mother’s wish for any child.

Let It Go” from “Frozen” performed by Idina Menzel

“It’s time to see what I can do. To test the limits and break through.”

Get Back Up Again” from “Trolls” performed by Anna Kendrick


“Hey! I’m not giving up today. There’s nothing getting in my way. And if you knock knock me over. I will get back up again.”

Shake It Off” by Taylor Swift


“But I keep cruising. Can’t stop, won’t stop moving. It’s like I got this music in my mind saying it’s gonna be all right.”

Born This Way” by Lady Gaga

“’There’s nothing wrong with loving who you are,’ she said, cause he made you perfect, babe. So hold your head up girl and you’ll go far.”

Roar” by Katy Perry


“I got the eye of the tiger, a fighter. Dancing through the fire. ‘Cause I am the champion, and you’re gonna hear me roar.”

Fight Song” by Rachel Platten


“This is my fight song. Take back my life song. Prove I’m all right song. My power’s turned on. Starting right now I’ll be strong.”

Me Too” by Meghan Trainor


“I thank God every day. That I woke up feelin’ this way. And I can’t help lovin’ myself. And I don’t need nobody else.”

Happy” by Pharrell Williams


“Clap along if you feel like happiness is the truth. (Because I’m happy)”

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The Meltdowns You Don't Often Hear About

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When we hear about meltdowns, most people automatically think about a child with autism. We read about sensory meltdowns, the difference between a meltdown and a tantrum, and how people react when seeing a meltdown in public.

While meltdowns are common in the autism community, they’re not unique to only those with sensory processing disorders. A meltdown is basically neurological chaos. On the outside you might see screaming, crying, rolling around, and thrashing about. But on the inside the brain is on overload. The person is not trying to get their way or draw attention to themselves. They are in an overwhelming situation and having an emotional reaction they cannot control.

I would like to share an example from my non-autistic son. Christian is a 2-year-old who has propionic acidemia and spends a lot of time in the hospital getting blood work and tests done. He has had a few stays in the hospital requiring IVs and various tests. He does not have any sensory processing issues and is average to his peers in the social emotional category.

little boy smiling

One day Christian, my daughter Maya, and I went to the mall for a special treat from one of their favorite stores. After buying them exactly what they wanted, my daughter announced she had to use the bathroom. Right as we were turning the corner to head down the hallway to the bathroom, Christian dropped to the ground screaming. He was screaming, crying, and yelling incoherent words. No matter what I tried, he wouldn’t stop. I could not get him off the ground or console him in any way.

Everything seemed to be happening in slow motion. People stared and pointed. Mothers turned their children’s heads away from the scene. The seconds seemed liked hours. I am positive they thought I had a bratty kid who didn’t get the toy he wanted. Finally, I was able to get on the ground with Christian and get him to calm down.

Christian can communicate really well for his age, so I attempted to find out why he was so upset. It was actually my 6-year-old daughter Maya who assisted with the translation. The problem was with the tiles on the wall in the hallway. They were the exact same tiles used in the hallway of the hospital Christian frequents. When he saw those tiles, he could not handle the stress. His brain flooded with emotions, and he panicked.

Christian was not a 2-year-old throwing a tantrum, and Christian does not have autism. Anyone can have a meltdown.

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How to Help Your Child Navigate an Invisible Condition

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An invisible disability or a hidden illness is described as one that is not immediately apparent or cannot be seen. We often hear adults talk about their invisible disabilities and the hardship it brings.

Invisible illnesses are hard enough to handle as an adult, but what do you do when your child is the one affected?

Both my children, Maya and Christian, are of average height, average weight, and average intelligence. They act like any other 7-year-old and 3-year-old. Maya likes to play with her dolls and watch YouTube videos, while Christian likes to play with his trucks and watch “Paw Patrol.” Both Maya and Christian have the same social abilities as their peers; you would never know from watching them at the playground that on the inside their little bodies are fighting for their lives.

Maya and Christian both have propionic acidemia (PA). While they are smiley and happy on the outside, inside their bodies are raging war. Propionic acidemia is a metabolic disorder in which the body is unable to process certain parts of proteins properly. This organic acid disorder leads to abnormal buildup of particular acids, which can then become toxic and cause serious health problems including damage to the brain and nervous system.

As a parent of two children with an invisible illness, I have discovered a few ways to help my children with their diagnosis.

Teach them to advocate for themselves. As scary as it sounds to me, eventually they’ll be on their own in this big, wild world. They need to understand how to take care of themselves, speak up for themselves, and handle any questions. Teaching them to advocate for themselves doesn’t happen overnight – but by being an advocate myself and modeling behaviors for them, they slowly become better and better at advocating for themselves.

Educate them on their condition. Maya and Christian are both well aware of their condition. While I only share information with them that is age-appropriate, I believe knowing about their PA helps keep them safe, healthy, and happy. Educating them involves teaching proper medical terms as well as simpler explanations to be sure they understand.

Give them the opportunity to speak about their condition. When other people see us counting proteins on food labels, turning away items that cannot be eaten, or discussing our latest doctor’s appointment or hospital stay, they usually ask, “What’s wrong with them?” Before giving an explanation myself, I first ask Maya if she wants to explain her PA to the person. If she is not comfortable sharing, I’ll do it. But I always give her an opportunity first so she can continue to learn about her condition, advocate for herself, and educate others.

It is my hope that by teaching my children to advocate for themselves, educating them, and allowing them to speak about their condition, they’ll be healthy, happy, and safe when it’s time for them to be on their own.

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Thinkstock photo by ulkas

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