Nila B.

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. To date, 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

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,and 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 and 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, stress, 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.

Resources

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

Rachel G.

Family Stories – Rachel G.

My name is Rachel. I am 40 years old and have propionic acidemia. I live with my mom and dad. Three days of the week I work at a work center for the disabled and on 2 days I go to work at the Painted Turtle. I love both my jobs but the Painted Turtle is my favorite. I get to paint and do other artwork that is sold to the public.

I love to read and go on my computer. I attend events at my local Special Recreation Program. We go bowling, have dances and attend plays.

My favorite vacations are at Disney World and the Disney Cruises. Disney is very good about helping me with my special diet.

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

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

PAF Attends 16^TH 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

Teegan

In Loving Memory of Teegan

2002-2017

Obituary

Inside Edition video

Evie Blade

Evelyn Blade – updated 3/5/2017

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.

Sam W

Sam W.

Sam W.

Sam was born a week and 4 days late. Everything about his birth was perfectly normal unlike his older brother. I had the birth I wanted; he was breastfeeding well. For 3 days, life was perfect. Then, we got the phone call. His newborn screen had elevated C3. He had to go to the ER immediately. He did not have any symptoms at this point, so we assumed it was probably just a precaution. The tests at the ER showed elevated ammonia, hypoglycemia, and elevated ketones. He was then admitted to the Children’s hospital. After 5 days, we had the diagnosis of PA. He was discharged and stayed out of the hospital until 7 months old. From 7 months to 18 months, he was hospitalized 9 times for illnesses, exhaustion, and constipation. Most visits were only for a couple of days. After 2 rough hospitalizations, Sam was terrified of any female other than me (we assume because most nurses and phlebotomists were female). That’s when we decided to have a gtube placed. It was the best decision we ever made. He is now 3 and has not been hospitalized since the gtube surgery. Thanks to the newborn screen, he has never had a crisis. He is where he should be cognitively. Physically, he has hypotonia. He had to have therapy to help him learn to crawl and walk, but he still managed to walk by 18 months. In addition to the hypotonia, his energy levels are noticeably less than kids his age. During his yearly heart exam, he was found to have some signs pointing to future development of cardiomyopathy. It is too early to do anything about it so for now, we are just monitoring that.

Overall, Sam is a happy and thriving 3 year old. He is all boy and loves guns and superheroes. At the same time, he can be very sweet and loving. He also loves to eat especially chips and anything fried! We are so thankful for him and for all the doctors and friends who have helped us through our journey so far. Sam is only doing well because of our PA community and his wonderful metabolic doctor. No matter what the future holds for him we will continue to trust God and rely on him to get us through the tough times.

That’s Sam’s story. Thanks for all you guys do to help with PA.

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 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

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, he didn’t let it impact his spirit.

Sebastian loved to be with his people, especially MawMaw, PaPa, Uncle Kyle and LaLa. He enjoyed riding the train at the St. Louis Zoo, cheering for the St. Louis Blues, swimming and going down the purple slide. He even got to go to “Mickey’s House” a.k.a. Disney World this past September. He was so excited to be practicing with his team again for Special Olympics basketball, he was the king of the grandma shot and always cheered for himself as the ball flew through the air. 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, however, I think that Sebastian’s life, though short, taught us that there is always joy and hope to be had, sometimes we just have to look a little harder to find it.