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.

Sam W

Sam W.

Sam

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

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

Christian M.

Christian M. – updated Febrary 2019

Christian M.

Christian M.

Christian, also known as CJ, is a fun loving five year old. He loves to listen to music, dance, and sing. His favorite activities include playing with his sister and watching YouTube videos. Christian is in full day kindergarten and loves socializing with his friends. Christian joined Yoga Club at school and he participates in gymnastics, tennis, magic classes, and horseback riding through the park district. He loves to travel and his favorite place to visit is the Great Smoky Mountains.

Christian’s older sister was diagnosed with Propionic Acidemia through the newborn prescreening, therefore we had a crisis management plan put in place for his birth. Within 48 hours of his birth, we received his diagnosis of PA. Currently, Christian eats 11 grams of protein, drinks Propimex-2, and take vitamins daily. We always seem to end up in the hospital during flu season, but other than that Christian has been a very happy and healthy little boy meeting all of his milestones.


Past story –  Christian – age 3

Christian

Christian M.

Christian, also known as CJ, is a three year old dancing machine. He loves to listen to music and have dance parties in our kitchen and basement. He is the life of the party and always making people smile. CJ attend preschool twice a week and is also involved in soccer and gymnastics. At home, he loves to follow his older sister around and try to play whatever she is playing. His superhero toys are often battling Barbies. Like most other three year olds, CJ loves cars, trucks, and his favorite television show is Paw Patrol.

 

Maya M.

Maya M. – updated February 2019

Maya M.

Maya M.

Maya is a nine-year old sweetheart. She loves watching YouTube videos and making her own videos for her MayaTV channel. Maya loves to make slime and listen to music on her iPod. She also likes traveling and going on vacation with her family. Maya is in third grade and loves reading, writing in cursive, and solving multiplication problems. She joined her Service Learning Club at school and participates in gymnastics, magic classes, tennis, drama, and horseback riding through the park district.

Maya was diagnosed with Propionic Acidemia after coming home from the hospital. We were fortunate to have a quick diagnosis through the newborn prescreening and avoided any metabolic crisis. Maya consumes 13 grams of protein by mouth daily. She drinks Propimex-2 and takes vitamins. Overall, Maya is a happy and healthy little girl who makes everyone smile with her humorous personality.


Maya – 7 years old

Maya M.

Maya M.

Maya is a seven year old, energetic, and hilarious little girl. She is currently in first grade where her favorite subjects are computer class and gym class. Maya loves to travel. Her favorite travel locations are anything involving a beach and sunshine. She spends basically her whole summer at her grandparents’ Yogi Bear campground. She loves “driving the golf cart”, swimming, fishing, and trying to catch frogs. Maya loves to try all activities. She has been involved in ballet, hip hop and tap classes. She has been in Lego club, Mad Scientist club, Cooking club, and Art club. She has also tried gymnastics and theater. Maya’s favorite hobbies include making videos of herself and playing with all of her baby dolls.

Maya was diagnosed with Propionic Acidemia through her newborn prescreening. With early detection, we were able to avoid any major crisis. Currently Maya consumes 13 grams of protein by mouth and drinks Propimex-2 daily. She is not a big fan of all her doctor’s appointments, but understands she needs them to stay healthy.

 

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

 

Scarlett Camille

Scarlett Camille   4/5/2006-11/21/09

The most wonderful thing in the world happened on April 5th, 2006 … you were born….Scarlett Camille.

scarlettSince then life was changed forever in a very special way!

There’s so many things you brought to my life, endless wonders, incredible sweetness, such a tiny little miracle child, unforgettable moments, joy that grew and grew, more love than you could ever dream possible!

I will never forget your strength and courage, and I will be forever proud to have had such a darling daughter.

Although your time here was short, you filled my heart with a lifetime of memories.

What a treasure, a touch of heaven here on earth.

Mommy’s little angel…

Awaiting the touch of a little hand and a smile from a little face.
Love you Bunny Bunny Bunny*

Reprinted from Autumn 2010 Newsletter

Reuben

Reuben

Reuben

Article from Spring 2013 Newsletter

When people ask me about my brother it’s impossible NOT to smile.  He is such an amazing person!  He’s friendly, strong, funny and has an infectious laugh.  Reuben is completely comfortable being himself.  He doesn’t judge others and has the purest soul I’ve ever met.   It doesn’t bother me that he can’t drive, that sometimes I have to “translate” what he’s saying to others, or that everything in his world is related to a sport’s team- that’s “Rube”, my baby brother and my best friend.

I remember the day he was born very clearly, I was five years old and I was nervous, very anxious to meet what I thought would be a little sister.  I remember being ushered into the room with my grandparents and my mama had the bow on the newborn cap covered up with her hand and then FINALLY she unveiled it and my life was forever changed- Reuben Wade Kleckley was born March 22nd, 1984.  He was named after four generations of Kleckley men and I’m sure my parents had dreams of him playing professional baseball like my daddy and granddaddy did, but God had bigger plans for him.

When Reuben was two days old, he became very ill.  He was having seizures and went into a coma- and the doctors really couldn’t tell my parents why this was happening or what was wrong.  No one had any answers and I remember it was a very confusing time for me because what was a happy occasion quickly became a scary time for our family.  Once he was moved to ICU, I wasn’t allowed to see him because no children were allowed, and that was hard because as a new big sister that’s all I wanted to do.  After a few days, the nurses and my mom got together and broke the rules- dressing me in scrubs from head to toe so that I could hold him.  I remember his baptism and watching him being baptized in ICU with my baptismal gown on, wires all over and a specimen cup taped to side of his head so he wouldn’t pull out his IV again- he was such a pitiful little sight.  When Reuben was about a week old, he was flown to Johns Hopkins in Baltimore and was diagnosed with Propionic Acidemia, at the time there were only about 75 cases in the country so the doctors really didn’t give my parents a lot of hope.  Most children didn’t live past infancy and those who did, typically had significant developmental delays.  The latter proved true for Reuben.

As a child, in those first years I don’t think I really noticed that he had global delays- not walking until he was two or using phrases until he was four.  It never dawned on me that he wasn’t doing things like other toddlers, I was just happy he was with us since there were so many times he almost wasn’t.  I think we were more focused on his health with surgeries and trips to Duke to see specialists than any delays.  I know my parents knew early on that he was going to have challenges, but it took me awhile before I noticed he was different.  I remember the questions from friends and family and sometimes the stares when we would go out in public- it made me angry as a child, but it never made me angry at Reuben, it made me angry at the ignorance or other people.  The only thing that bothered me about growing up with a special needs brother was that it was very isolating, I didn’t know anyone else like me and I didn’t have any friends who understood.  I had no one to talk to about it.  My parents would try, but I was afraid of feeling or saying anything that might hurt them or make them worry.

I think the question I get asked most often is, “Do you ever wish your brother was normal?”  Sometimes people are shocked when I say “no”.  I mean, what is “normal”?  I think about how happy Reuben is, how much he enjoys the simple things in life and how, at 28, he is completely unaware of the negativity in this world.  He’s had a lot of struggles, but he’s had so many more positive experiences!  Having a sibling with special needs is not something you wish for and it’s not always easy, but Reuben has given us so much more than we could ever hope to give him. Christmas mornings are still exciting, watching him sing “Victory in Jesus” always brings tears to my eyes and it’s because of him that I’ve dedicated my professional career to working with children with special needs.

For a long time I’d heard “you’re so good with Reuben”… so, my family wasn’t surprised when I changed majors my junior year at USC, to work with children with disabilities.  Once I met my first child with autism, I was officially hooked.  I became an Early Interventionist after graduating in 2003 and in November, 2011, I partnered with a colleague to form Carolina Behavior & Beyond.  Our company provides early intervention services to children with disabilities and developmental delays, mainly serving children from birth to age five.   I love what I do and it’s truly amazing to see a child develop and transform before my very eyes.  I found my purpose in life and I know without a doubt, I have Reuben to thank for that.  He’s taught me that being different is not the end of the world, that there is wealth in every life if you have the heart to find it, and that you don’t have to be in the big leagues to pitch a no-hitter.

 

Reuben

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