Our daughter Abigail was born at 34 weeks gestation due to an onset of Preeclampsia and HELLP Syndrome in a rural area of Utah. She was born at 4lbs 4oz, but could not keep her body temperature up, or intake enough food over the next two days that we were in the hospital and eventually we were sent home. Abby only weighed 3lbs 11oz. We did not feel this was right, but the hospital was cold and we had a better control of the environment at home so we did not contest the decision. Over the next few months she was a very quiet baby and did not put up too much of a fuss. Now we understand this was caused by the lack of energy. She was continuously behind milestones, but she would catch up around the 24 month mark.

Around Abby’s 1st birthday we made a move to South Carolina for a new job opportunity. Finding a new pediatrician was a top priority since we were still worried about how far she was behind on milestones, but once again was reassured that it was more than likely due to being premature. When Abby was 16 months old the pediatrician informed us about an early intervention program that South Carolina offers, we were on the waitlist until August. The different therapies offered helped Abby, but only so much with little improvement. In November 2022 the program offered genetic testing, upon getting to the appointment even the geneticist told us that Abby’s physical features and the scanning app is showing no defects and was not concerned about finding any genetic explanation for her delays and once again reassured us that it was from being premature. Again in December of 2022 we made another move for work and went to Mississippi where we finally got the results back from the genetic testing and it was briefly explained that Abigail has PDCD. We heard this news on a Friday afternoon, with no additional information given for almost a week. We panic researched the disease and had very low hope with the information that was out there. Over the next few months we fought to get her seen by doctors trying to explain the severity.

A few weeks later Abby started on her journey with the ketogenic diet, which showed almost immediate results with her learning new sounds, motions, and overall growing in size. Late February Abby contracted a variation of the common cold which ended up with a five day stay in the Lebonheur hospital two hours from home. She proceeded to have another five day stay after getting her G-Tube placed to help feed her when she doesn't feel like eating. Health care has been an overall struggle due to the lack of information regarding this condition. It seems like we are having to advocate every visit for the complexity and severity of what is normally completely fine for “normal” children. To this day we are still fine tuning Abby's nutrition which has become more of a medicine than food, she is in daily therapies for speech, physical, and occupational. She continues to brighten our world with her optimistic personality, which you'll never catch her not smiling even on the worst days. She is determined and intelligent and pushes through daily even though her body is failing her. Currently there is not a cure or standard treatment for this progressive illness, but hopefully one day there will be thanks to the Hope for PDCD Foundation and all of their supporters.

Adalyn Grace is 3 years old. She was diagnosed with PDCD at 12 months of age. I had been a pediatric nurse for 21 years when I had Adalyn. Since she was in my womb I knew something was not right. Having NICU experience I was able to keep Adalyn’s weight above concern by feeding for 1.5-2 hours every feed. It wasn’t until I changed pediatricians at 9 months that we began steps to discover her diagnosis. She is so loved, so joyful, strong and brave. Although the diet has helped, she cannot tolerate more than a ratio of 1.5:1. She has had major hip surgery, has a g-tube and eats very little by mouth. She has about eight therapies per week and will begin two day preschool with her nurse in November.

Addison was born preterm on 4-12-2023 at 34 weeks due to preeclampsia. Prior to Addison’s birth we were made aware of some extra fluid in her brain but were told not to worry as this can sometimes resolve on its own. Addison was not able to breathe on her own after birth and was promptly put on breathing support . Over the next 3 days she would come off the cpap machine to oxygen and then to room air . Once Addison was stable enough to be moved she was taken for an ultrasound and was found to have not mild fluid in her brain but, severe . A MRI was ordered and it revealed some other findings. Addison spent 24 days in the NICU . She had a little trouble getting the hang of eating from the bottle but we chalked it up to be because of her being preterm . The hospital neurologist decided that we should get some genetic testing done. They told us it would take about 4 weeks and we would be home before we got the results . After 24 days Addison was gaining weight and eating confidently and we were free to go home . Addison was a no fuss baby . She didn’t cry much , she didn’t ever act hungry and she was very sleepy - we were told it was because she was preterm . At 3 months old we received a call saying Addison had a mutation in her PDHA-1 gene and that we should see a geneticist and no other information was given . She had her first seizure 3 days after we had gotten her diagnosis. The seizure actually helped us get the services we needed for her faster than just getting the diagnosis. We spent many days navigating what the next steps were for her . At 6 months we finally had a care team together a neurologist, a keto specialist , a dietitian , and a geneticist . She received a gtube at 6 months old and we started the transition to the Keto diet . Shortly after gtube placement Addison developed infantile spasms which she is still battling 6 months later . Addison is over 1 yr old now and she’s still a no fuss baby . She is the youngest of 7 and does well with all of her siblings . Although, she does not use her hands and words to communicate she does use her feet to reach out and touch us or give us a quick kick when she likes or dislikes something . She enjoys listening to us sing to her and mostly recently has taken a serious liking to shiny necklaces . She is our sweet cuddle bug.

Aela is a 6-year-old, music loving, happy little girl with PDCD. She’s had some bumps in our journey to get to where we are today though. Finding out while pregnant that something may be wrong as a first time parent was shattering. Aela’s first two years of life were very difficult. From having hundreds of seizures a day from infantile spasms, to searching for a diagnosis, all while having her dad deployed to Iraq…it was a very heavy time. Fast forward to today. Finding her PDCD diagnosis and a plan of care has made a world of difference for Aela. She has eyes that look into your soul and a smile that lights up the world. We will continue to do everything in our power to help Aela thrive and live her best life possible.

Alana was diagnosed with Pyruvate Dehydrogenase Complex Deficiency (PDCD) in January 2022 at 3 years old; however, this has been a journey from the start of her developmental delays by 10 months old.

Alana was born on May 15, 2018, from a healthy pregnancy and non-complicated delivery. We brought her home from the hospital without any issues or concerns, let alone any known spontaneous genetic condition. In March 2019, at 10 months-old, Alana was initially diagnosed with microcephaly and developmental dysplasia of the hip (DDH). After treatment for her DDH condition, Alana started physical and occupational therapy. She had global developmental delay at this point. In December 2019, Alana had her first brain MRI, and her results came back abnormal. Her neurologist eventually referred us to what is now her genetics team and after many rounds of genetic testing which had been delayed due to the covid-19 pandemic we finally had answers, but the journey continues.

Alana receives daily physical and occupational therapy, speech-language therapy, feeding therapy, along with hippotherapy, on top of a busy schedule of doctor appointments. In June 2022 Alana was put on a medical ketogenic diet to help manage her PDCD condition. Alana is currently non-verbal but since starting the diet we have seen further improvement in the way she communicates with her environment and family. Alana loves to be entertained through music, singing, and books. She has a strong, yet playful personality and no obstacle is too big to get in her way of what she wants. She exudes bravery every day working on daily skills most people complete without a second thought. Our special PDCD warrior is very much loved by all who know her and want the best for her.

Alex is 30 yes old and was diagnosed with PDCD when he was almost 3 in 1995. His PDCD presents itself mostly as physical challenges in terms of fine and gross motor skills, balance and gait. He’s been on the ketogenic diet since he was 3. He is a people person! He loves sports of all kinds, but baseball is his favorite! He is a sports stats genius!! He graduated from Cleveland State University in 2015 and has worked for the YMCA and volunteers for our area metroparks system. He’s looking forward to getting certified as an adaptive sports specialist in the near future. He loves challenging himself. Most recently, he trained and completed climbing 155 steps (and back down) at a local nature center. He loves getting coffee with friends at his local coffee shop, doing puzzles, volunteering on the media team at church and finding new ways to live his best life.

Ali was born on July 23, 2020. All during my pregnancy and delivery nothing seemed out of the usual. He was born full term with no complications. It wasn’t until the hospital did the newborn hearing exam that we realized that he has hearing loss. As he got older he started to fall behind on some milestones so at 6 months we got an MRI. Little did we know, that those results would turn our world upside down. After finding out he had abnormal brain structures, the hunt for a diagnosis began. We finally got his genetics results back at 11 months with the PDCD diagnosis. This past year has been crazy trying to find the best therapies and medications along with getting him on the right keto ratio. However, I think no matter how hard we try to prepare ourselves, Ali has proven to go above and beyond. He has gained so many new skills that seemed impossible at first. He’s rolling around all over the place, tracking objects and has recently started to sit up on his own. I have no doubt that this kid will continue to surprise us every step of the way. He’s such a happy child and brings a smile to everyone he comes across. To know him is to love him!

Amelia was born in January 2021 and is a cherished little sister to her two proud brothers. She loves music and sound and her happy place is splashing around in the bathtub or pool. She has a sweet demeanor and is adored by everyone she meets. Amelia’s 20-week anatomy scan revealed agenesis of the corpus callosum and bilateral ventriculomegaly. At birth, she presented with apnea, hypotonia, and feeding difficulties. Amelia began a ketogenic diet immediately after her PDHA1 diagnosis at 8-weeks-old and has been making herself seen, heard and loved ever since.

Andy is 7 yrs old. Since 4 months old he showed development delays as he wouldn't have the strength to hold his head up and was not gaining weight or growing. After different testing and referrals to different doctors we got an answer. Before this, getting treatment for him or getting what he needed was a struggle. He was diagnosed with PDCD at 3 years old. Since he's diagnosed he's been on a 2:1 ratio keto diet. We noticed a big increase in development with the diet. He's had several surgeries: hips, eyes, and g-tube is the most recent. Now he's learning to talk with an AAC device and walking with a gait trainer . Andy loves music and loves his tablet with his favorite cartoons. He has a sense of humor and loves to blow kisses.

Aubrey was born in April 2017 to her parents and three siblings. An MRI before she was born identified abnormalities with her central nervous system including agenesis of the corpus callosum. Genetic testing shortly after her birth provided the diagnosis of Pyruvate Dehydrogenase Complex Deficiency. The disease affected the development of her brain and continues to affect all areas of her development including mobility, speech, hearing, and vision. Aubrey is thriving despite the many challenges that result from PDCD. She loves to be held and enjoys listening to music. We are thankful for each day with Aubrey!

At my 33 week ultrasound the doctor noticed that Avalynn had a case of ventriculomegaly. So, once she was born we got a regular ultrasound of her brianand there was no progression of her brain but she was falling behind in milestones. We could not figure out why. At nine months we got a genetic test done and that's when we found out she had this rare metabolic condition. We started doing the keto diet and she started doing new things. Then shortly after she was diagnosed with infantile spasms. So we are getting the tools to manage that and continue with her 3:1 ratio keto diet. She is now one year old and thriving at her own pace. I cannot wait to see what she accomplishes in the years to come. This is definitely not the life I expected but I know God has hand picked me to be her mama.

Briley is 2 years old, born on July 8th 2022. While I was pregnant we discovered she had fluid on her brain. While in the NICU they drew blood for a test that was meant for another baby in the unit. This mistake saved Brileys life and showed her lactic level was high. They then were able to send off genetic testing. We got our official PDCD diagnosis at 3 months old.

Briley is the light of my life and our biggest blessing. She loves to cuddle, blow raspberry’s, and interacting with her big brother Baylor.

Carleigh's first battle was infantile spasms at 7months old and thankfully knocked out with ACTH treatment. After extensive testing, Carleigh was diagnosed with PDCD at the age of 2 years and 8 months. After powering through hip dysplasia and a spica cast for over 6 months...we were determined to tackle PDCD as well.

Carleigh has a mild version and she is blessed to have head control, ability to eat by mouth and to be on a modified Atkins low carb diet rather than full blown ketogenic diet. She is globally delayed and nonverbal. She struggles with low tone, excessive tiredness, and gastrointestinal issues.

We continue to see Carleigh progress though! She is a warrior. She is taking steps on her own now and you can see the determination in her eyes. She starts kindergarten next fall, and we are excited to see what that brings for her development.

Ellie Rose was born January 1st, 2018 weighing only 3 lbs 11 oz. At my 35 week scan they noticed some abnormalities in her brain, and once I gave birth they confirmed them through an MRI. Seizures began at 4 months, started as infantile spasms, then to complex partial seizures. Development delay began showing, and she was diagnosed with PDCD at 22 months. Thankfully we have been seizure free for over 2 years. Her genetic mutation is de novo so it wasn’t inherited from her dad nor I. Ellie began the keto diet in September 2020. It was a game changer. She eats orally, but has a g-tube for water intake only or vitamins. She is thriving. Ellie can sit unassisted, loves music, and is able to take a few steps with no assistance. Although she is nonverbal, we can understand when she’s happy, mad, or sad. It has most definitely been a hard path, but Ellie is doing amazing and is one of the happiest little girls, and for that we are very blessed.

Emily Ann was born February 1, 2017. During my pregnancy, two cysts were discovered on her brain, reason unknown. With our amazing pediatric team at University Hospitals Rainbow Babies and Children, Emmy was formally diagnosed with PDCD at one year.

Emmy is currently in preschool and has eight therapy sessions per week. She is mostly non-verbal and still cannot chew; however, our warrior never goes a day without laughing, smiling or enjoying sugar free jello! Emmy has been on the ketogenic diet for the past four years. Along with supplements and vitamins, this diet is keeping her going! Her amazing spirit and strength is truly an inspiration.

We hope and pray for a cure and many more years of good health and happiness for all PDCD warriors and their families.

Emma Rose is 18 months old. She lives in a small town in West Tennessee. She has always been significantly developmentally delayed and was recently diagnosed with PDCD. A few weeks after diagnosis, she got a g-tube and started the keto diet. She is also involved in the DCA clinical trial in Pittsburgh. She is the happiest little girl!

Emma was born September of 2010. The pregnancy was normal and she came at 40 weeks with no complications. Scored perfect on her newborn screening tests and no reason to have concern that she had any genetic disorders.

Fast forward to December 27, 2010 is when we noticed her first seizure. This led to many hospital stays at our wonderful children’s hospital, Blair E. Batson, doctors appointments, multiple tests from MRI’s, EEG’s and uncountable blood draws. Her mild seizures progressed to infantile spasms over the next few months. All the while on multiple seizure medications.

Through all the labs that were showing elevations in her lactic acid and pyruvate, the doctors were leaning towards a diagnosis of Pyruvate Dehydrogenase Deficiency. They sent her blood work to Emory Labs in Georgia to see if they could determine the gene enzyme deficiency to confirm their thoughts. At that time, it could take a few weeks to get the results back so in the meantime they did an in hospital glucose test to see if they were on the right track. It did show the elevation of her lactic acid and pyruvate after consuming “sugar water”. So we were immediately admitted for a week to start the ketogenic diet. Fortunately, after 12 hours of being on the diet her infantile spasms stopped along with all other seizure activity. We got the lab results in from Emory the day we were leaving the hospital to confirm the diagnosis. This was approximately 4 months after the first seizure.

I feel like we were very fortunate to have a “quick” diagnosis so we could get her started on the diet. At that point though, there was already significant brain damage from the infantile spasms and the lactic acid build up in her body over those months. Emma is now 13 and for her condition, she is thriving! She tests on the level between 3 months in some areas to 24 months. She is non verbal and non ambulatory. She is totally dependent on the care of others and will always be. But I feel like she is totally ok with being spoiled in that way.:)

She loves being outdoors either swinging or going for walks. We have and will probably always be Mickey Mouse fans! She’d rather interact with people than play with toys. Emma enjoys the little things in life which forces us to slow down and just enjoy each day God has given us.

I hope for the future of other children affected by PDCD that immediate diagnosis at birth could prevent a lot of the damage to the body and brain and even death, that undiagnosed PDCD causes.

Francesca Rose Caruso was born on January 26th 2011, at 4 lbs. 15oz to Marcus and Alanna Caruso, and big sister Gianna. We knew she would be small at birth, having seen so on ultrasounds. She was otherwise healthy, as far as everyone knew.

As months went by, we noticed Francesca was not meeting milestones and having tremendous trouble feeding, on top of other concerns.

Those months turned into years of therapies for vision, hearing, occupational and physical impairments, feeding and swallowing therapies, etc.

After seeing many, many specialists over the years, Francesca was finally offered the only genetic test known to possibly give us some much needed results, Whole Exome Sequencing. Finally, after almost seven years of waiting and wondering, she was diagnosed with PDCD.

Francesca has made great developmental gains in her 11 years, but is very developmentally behind her peers to date. She does struggle with severe scoliosis and hearing and vision impairments still as well, among many other smaller diagnoses. Francesca is beloved in her family, which now includes two younger brothers as well. She loves school, and often finds herself the favorite student. She exudes joy, and loves singing and listening to music. She is our earth angel!

Gaby loves life and music! She is 27 and lives on the East Coast of Australia. Gaby had a confirmed diagnosis at age 10 months. After a 12 month trial of DCA, Gaby switched to a ketogenic diet. She blossomed once on the diet. Gaby is fully G tube fed now, but still enjoys sips and tastes of her favourite things (such as carbonara sauce and champagne). Gaby is the youngest of our 4 children. She has a brother in law and a sister in law, 3 nephews and a niece whom she adores. Gaby loves to swim, and enjoys being outdoors. But above all, Gaby loves to sing. Despite her physical and intellectual disabilities, Gaby is able to remember and sing along to numerous tunes and musicals. She is such a delight, and we love her.

My husband and I welcomed our third son to our family in the summer of 2009. Just as we were getting into our new routine, our world was turned upside down. At just 15 days old, Gavin was rushed to the hospital because he had difficulty breathing. I’ll never forget waiting for the ambulance to arrive as we watched our 2-week-old baby boy turn from bright red to a pale white, then a dusky gray. He was rushed to our local ER and put on cpap. Thank God the Neonatologist was present (truly one of the many tiny miracles we’ve encountered) and able to order labs immediately. Gavin was found to be acidotic (too much acid in his blood). The question was why?

Truth be told, while our local hospital did a great job of stabilizing Gavin, they had no way of knowing for sure what was wrong. These types of problems aren’t easily or quickly diagnosed.

Gavin was transferred two hours away to a Children's hospital for further testing. Our genetics team quickly became our support system and lifeline. Within a couple months, Gavin was diagnosed with Pyruvate Dehydrogenase Complex Deficiency.

After Gavin was stabilized and discharged, things were smooth sailing, for a while. At four months old Gavin became ill with a typical virus. He went from a typical sick baby with a fever, to stark white and nonresponsive within minutes. Thankfully our team had given us great instructions on what to do when he became ill, so we were already in the ER. Gavin did this a total of four times before his first birthday, each time requiring breathing support and intensive care. During one of these episodes, he suffered a metabolic stroke which caused irreversible damage to his brain. He lost his ability to sit, roll and babble. Gavin now requires a tracheostomy and ventilator to help him breathe, a g-tube for nutrition and a wheelchair for mobility, among other things. In our case, a cure like gene therapy could have made all the difference.

Despite Gavin’s disabilities, he enjoys life and is full of smiles. Gavin loves books, cartoons, and his family. We’ve learned to stop and cherish moments. We’ve learned that all the little things, like smiles and healthy days, are worth celebrating; they really are the big things. While we're extremely grateful for all of the lessons that Gavin has helped us learn, we truly hope that one day a cure will be possible so that every child can live their fullest life.

Grace is a sweet and curious girl. She was diagnosed when she was a toddler. Although with a tougher start of life, she is loved by the people who meet her. She is now able to walk for half an hour with holding hands and she knows how to have fun! She loves car rides, hiding/seek, and she enjoys and is proud of every progress she has made!

Harlow is almost 15 months old and we are located in Jacksonville, Fl. When Harlow was first born, she scored low on her AGPAR testing and we were told she had hypotonia and that something was potentially wrong with her. After nine long months of doctors visits and testing, we received her diagnosis of PDCD. After starting Harlow on the keto diet about four months ago we’ve really seen her personality appear and for the most part she’s our happy little angel who loves to snuggle and adores her big sister.

Hazel was born on July 16 th , 2021 at the University of Mississippi Medical Center in Jackson, MS. She was born early at 37 weeks because doctors were concerned about fluid that had been developing on her brain throughout the pregnancy and decided it was best not to let her go full term. Hazel was also having issues gaining weight. She was only 4lbs and 6oz at birth. Her first few days in the NICU were difficult. Hazel’s labs were not coming back normal and her lactic acid level would always be very high. The doctors thought she had an infection and began treating her with antibiotics. When the antibiotics did not work, they began to start a series of other tests. I was asked about genetic screening, which I consented to. Hazel was diagnosed with Pyruvate dehydrogenase complex deficiency. She was able to start a treatment plan and her labs began to improve. Hazel was discharged from the NICU on August 9th, 2021. Hazel is now two and thriving. She still faces a lot of obstacles, but she has an amazing team of doctors and nurses that ensure she gets the best care possible. When you research PDCD, the first thing you see is it is potentially life threatening and life expectancy is not long for children. Hazel was fortunate to be diagnosed so early. She is able to continue to grow and fill our life with joy.

At my 30 week OB appointment, we were told our daughter had extra fluid on her brain. This was the first sign of any issues during my pregnancy. I was sent to a specialist at a nearby hospital and they discovered that our daughter had enlarged ventricles in her brain and no corpus callosum. After googling way too much, we were preparing ourselves for physical and mental limitations as our daughter grew.

James was born in January 2017. There was no indication before his birth that anything was significantly wrong with him. It was only after a few weeks when he was not meeting his milestones and becoming ill that there was any indication that something was amiss. He was later diagnosed with Pyruvate Dehydrogenase Deficiency.

He is a very sweet determined little boy. He can't walk, talk, and play like other children his own age. He suffers from seizures. His childhood is being destroyed by his Pyruvate Dehydrogenase Deficiency/Leigh's Disease. He should have started kindergarten this year. Instead, this year, I watched his older brother get on the school bus without him on what should have been his first day of kindergarten. All of the other children in our neighborhood are able to play with their siblings. My children cannot go outside and play together because of my son's genetic condition. We can't even have a conversation with him.

James is a beautiful little boy who laughs a great deal. Each day I watch my son further deteriorate before my eyes because nobody has ever offered to help fix him although I have contacted numerous labs in the past who are involved with CRISPR and mRNA therapies. Without greater medical intervention he will die in childhood. This genetic disorder has already taken his vision. Greater therapeutic intervention is needed if he is to survive.

Jaylin rose is 6 years old and was diagnosed at 4 months old. I truly believe the keto diet changed her life and made it to where she can live her best life!!! Jaylin loves three things...she loves loves loves twinkle twinkle little star song...she loves her hair to be brushed and she loves getting the palm of her hands tickled. Jaylin is my hero, she has been through so much!!!

At my 30 week OB appointment, we were told our daughter had extra fluid on her brain. This was the first sign of any issues during my pregnancy. I was sent to a specialist at a nearby hospital and they discovered that our daughter had enlarged ventricles in her brain and no corpus callosum. After googling way too much, we were preparing ourselves for physical and mental limitations as our daughter grew.

4 weeks later, our beautiful daughter, Josie Kay was born. She came very quickly! I feel that she knew she needed help so she entered the world at top speed. We were expecting her head to be large due to the extra water on her brain. However, her head was not enlarged so we didn’t need a shunt like we originally thought.

The puzzling part was that her lactate level in her blood continued to stay high days after birth. They told us that, sometimes after birth, a baby’s lactate level can be high, but they go down after a few days and stay in the normal range. Josie’s never went down into the normal range and we had one neonatologist who INSISTED we get her tested for some rare metabolic conditions right away. We had started the testing just a week after she was born.

While we were waiting on the results, our neonatologist, who feared that she had PDCD, was in contact with the state’s only board certified team to deal with this condition. A team from Riley Children’s Hospital in Indianapolis. They suggested that we start her on a cocktail of vitamins, just in case she was diagnosed with PDCD. (Thiamine/vitamin B was one of them)

While we were waiting on test results, we also discovered that Josie was having sub clinical seizures. (Which we now know was due to the buildup of lactic acid and brain damage in utero from her condition) In efforts to stop the seizures, she was prescribed 3 different seizure medications. The medications were so strong that it caused her to be very lethargic and she needed to be intubated to breathe.

By her third week of life, we received her diagnosis. Pyruvate Dehydrogenase Complex Deficiency (A1). We were devastated and heartbroken. We were told that this condition was not life sustaining. After a hard conversation one day at the hospital, we started to discuss where we would want to bury our daughter. A parent’s worst nightmare.

However, once we officially got the diagnosis, we started her on the ketogenic diet immediately. Almost instantly, Josie’s lactate level went into the normal range for the first time in her life.

After trying to wrap our heads around the fact that our daughter may never leave the hospital, our team of doctors suggested that we consider being transferred to Riley to work directly with the only board certified metabolic team in the state of Indiana. I remember looking at my husband and asking him “Will we look back and wonder if we could have had more time with Josie if we sent her to Riley?” We had no guarantee that the Riley team would change her outcome but we could not live with the regret of not trying everything. It was in that moment that we decided to send our 3 1/2 week old, intubated and very sick daughter, to Riley.

When we arrived at Riley we met with a member of the metabolic team. We heard the words “manageable condition”, “ketogenic recipes” and “a favorite snack of our kiddos with this condition are pork rinds.” I just remember thinking “Pork rinds?! You need to have teeth to eat those! Are you suggesting we may have enough time with our daughter that she will have teeth and eating food?!?” This is when EVERYTHING changed. There was hope in the air. There was experience with this condition and a plan. The brain damage stopped as soon as we had a diagnosis. Knowing within three weeks of her being born, saved her life.

The metabolic team and our dietitian came up with the right recipe to get Josie’s body to lower her lactates into normal range, consistently, for the first time in her life. Their continued monitoring has kept her lactates stable, allowing her body and brain to heal.

Josie was able to come home after being in the NICU for three months. She left with a G-tube, some oxygen, and one seizure medication.

Josie is now ONE! We celebrated her with a “ONE in a million” unicorn party because our PDCD kiddos are as unique and magical as unicorns! She is off all oxygen, and slowly weaning off the seizure medication. We are introducing avocados, yogurts and other keto purées by mouth and drinking from a straw. She is in physical, occupational, and visual therapy. She continues to thrive and grow well on the ketogenic diet.

Our faith has pulled us, sometimes dragged us, though this journey so far. We cling to the truth that “Josie has a purpose and God has a plan.”

Meet KVon Jackson. He is 4 years old and diagnosed at 8 months. KVon is the last of 6 children. KVons pregnancy was different from any of his siblings. I had no idea what we had in store. First thing I noticed is that he would not gain weight. Due to the fact that his genetics screen came back good I had no idea he had something brewing. Fast forward to now. He has his diagnosis.. they stated it was a spontaneous mutation; nothing from my genetic structure. Ketogenic diet has helped him tremendously. He eats purée style food. He is so loving and carefree.

At 20 weeks' gestation, I was informed that my daughter's brain hadn't formed properly. The doctor stated that it takes up to 28 weeks for the ridges to develop. He said at that moment her brain was still smooth. In result, I was given the choice to have a miscarriage or continue to carry. I chose to carry my child to term. I could not bring myself to abort and held on to hope that my child's ridges would soon form. However, it did not end that way. I continued to see specialists for monitoring because they thought she was going to have hydrocephaly. At 30 weeks' gestation, the unexpected happened. I had a placenta abruption and they had to do an emergency cesarean at our local hospital. Soon after Layla had to be airlifted to The Children's Hospital in Jackson, MS. It was a struggle with her being preemie, but what we did not know that she had Pyruvate Dehydrogenase Disorder (PDCD). It wasn't until seven months later that we received a diagnosis after they did a muscle biopsy. During her extended stay in the Neonatal Intensive Care, she had problems regulating her temperature, not being able to latch on to feed, and difficulty swallowing. All of these are symptoms of PDCD. In addition to progressive neurological deficiencies. For instance, poor muscle tone, delay in motor development, and abnormal eye movements. All in which Layla suffers from. She has had two surgeries all before one year of age. Those included surgery for g-tube placement to ensure she would get the proper nutrition, and trachea placement to help with her breathing. She struggled severely with breathing on her own due to her brain disorder. Before the trachea was placed, she stayed on and off the ventilator for an extended amount of time. We had to make very difficult decisions that no one wished to ever have to make. Through it all, Layla has pushed through a lot of heart wrenching obstacles. She is currently awaiting her 10th birthday next month. She has defied all odds that were stacked against her. PDCD prognosis states that individuals with symptoms in the prenatal period or infancy usually will die in early childhood. I thank God daily for keeping her here thriving and getting all the love and support from her family. It had been times that I thought my daughter wasn’t going to make it back home, But God! We really need a cure for PDCD and neonatal screening to help children and families from facing these battles each and every day of their lives. Please help bring awareness to this very fatal disease and prevention for the future. We are fighting for a cure!

This is our beautiful girl Lennox (3.5 years old). She had lactate acidosis, brain deformities, significant delays, and her vision is impaired. We got a diagnosis at 8 months. She is on keto and hasn't had a seizure since. We are in northern Ontario, Canada. She has two older brothers. I am a social worker who helps people with disabilities find and retain employment.

Liam was born on March 31st 2021, he was perfectly healthy weighing 7lbs 14oz and showed no signs of PDCD. When he turned 6 months old we started to find some developmental delays. He also showed blank staring episodes that looked like seizures. Liam spent 6 months after that in and out of the hospital going through many EEG’s but could never find any seizure activity. We spent a month straight in the hospital starting off with admission for failure to thrive, then finding out about PDCD diagnosis. During that same admission on March 27th of 2022 just before his first birthday he had a metabolic stroke leaving him in the PICU on life support for 3 days. He eventually got strong enough to breath on his own, and at this point his doctors knew he needed to start the Keto diet. Since then he has been thriving and doing more and more things everyday! He is 3 now and is still trying to walk independently. He still smiles and laughs through everyday being the happiest kid i’ve ever seen! We pray everyday that a cure will be made for this awful diagnosis.

Lily is 10 months old, and the youngest of 3. She has two older brothers, Jacob and Marcelo. She was diagnosed at 2 weeks old while in the NICU after having low tone, a brain malformation (that was first noted on the 20 week prenatal scan), and heart trouble. She has been on a medical keto diet since then. This disorder was not inherited by mom or dad, it was a spontaneous mutation. Lily loves to cuddle, listen to music, pet her dog Forrest, and hang out with her brothers and family. She is our Lily bug, and has completed our family. She is a joy to her incredible medical team and to all our family and friends who support and love her.

Maddie is 5 years old. She has two older sisters and an older brother who she adores! She was diagnosed at 8 months after a FTT diagnosis. She is very outgoing and stubborn. She will only do something if she wants to do it. She is loved and adored by all that meet her. Her new favorite thing to do is scare everyone and go BOO!

My daughters name is Mariah, DOB 11-10-2018. She is three, going on four. Mariah was diagnosed with PDCD and ACC in the ICU. I had a normal pregnancy up to my third trimester. The OB noticed abnormalities with her brain. We live in Houston, Texas. Mariah loves to play with her piano and is learning how to stand with support. She is currently in a wheelchair. She does OT, PT, ST and many other therapies. She is on keto and has a g-tube. She is doing great and slowly improving as each day passes with trying to get to her milestones. We have a long road ahead of us. She doesn't give up and nor will I.

After a full-term healthy pregnancy, Mayci came into the world like lightning and has kept us on our toes ever since. In summary, we had fierce feeding difficulties, she was diagnosed with double hip dysplasia and required multiple hip braces. Despite our advocacy, we continued to be told “all children develop differently, and we will further assess after the age of one.” However, that is when she developed little twitches in her extremities, which progressively got worse until her entire little body appeared to be seizing an excessive number of times per day. She was diagnosed with Myoclonic Movement Disorder, Hypotonia, Dystonia, Microcephaly and we were finally sent for genetic testing. In Canada, they do not provide this testing, so we had to wait six precious months in unknown limbo land, which was a slow torture. If we could just figure out what was going on, then we could fix it… or so we thought. That is, until our world was shattered by a PDHA1 diagnosis and receiving such a grim prognosis. “Her case is severe, and we don’t suspect she will live past the age of three.” We were heartbroken, but this is when we found our PDCD brothers and sisters and realized many of our children do well on the ketogenic diet. We brought this to our medical team, and they discouraged us from trying it “as they tried it with another child with PDCD and it was ineffective.” After a very assertive and clear momma/poppa bear moment, they agreed to appease us and initiated the diet. She has since been completely seizure free for 3 years, attends school and is getting stronger and learning new things everyday. Our daughter just turned five, is an aggressively affectionate cuddle bug and has taught us that limits are set to be broken, no one can put an expiration date on her life, moms/dads should always trust their instincts, inch stones matter just as much as milestones, along with the true importance of being present and grateful for even the simplest of things in life; like the utter sense of joy that playing/wearing Grandpa’s glasses can bring us all.

Melody is a beautiful, strawberry blonde, soon to be 3-years-old, little ball of life and energy! Diagnosed at the early age of 14 months with PDCD, she immediately began the proper treatment; keto diet, hip dysplasia surgery, physical, occupational, feeding, and speech therapy. She knows no boundaries and has proven to us many times that she is capable and relentless towards anything she wants to achieve; having surpassed and graduated from many of her therapy classes.

She loves to play, dance, and surprises us more and more everyday on how much she learns. Melody is by far the best teacher we have ever had and a perfect example of anything being possible.

Mia is 3 now; however, since 24 weeks gestation we’ve known that she has what we call her “magic brain.” Her anomalies were discovered in utero and the outlook was grim. It wasn’t until after she turned one that we got her official PDCD diagnosis, and it’s been an interesting journey ever since. She started keto two months prior to the diagnosis with the intention of treating her intractable epilepsy, but we noticed a drastic positive change in Mia within a matter of days. Of course, it makes sense now. The keto diet allowed Mia’s personality to finally surface. She’s so happy, so loving, and so incredibly funny. She loves music, lights, and dad is her absolute favorite person in the whole wide world. Even though Mia’s future is filled with unknowns, we’ll continue to take steps to improve her quality of life and keep her smiling!

Our super Nova Bosch is 6 years old, she was born August 5th 2016 in Los Angeles, California. At 20 weeks pregnant we found out Nova would likely have agenesis of her corpus callosum which may cause some development delays.

As our pregnancy progressed we found out Nova has hydrocephalus and would need immediate brain surgery at birth to place a VP brain shunt. We spent two weeks in the NICU to monitor Nova’s feeding and she passed all her tests with flying colors. Thankfully, Nova did not need brain surgery until she was 8 months old, and again at 13 months old. Nova is a warrior and did great and we left the hospital both times within one day. We did not find out about Nova’s Pyruvate Dehydrogenase Deficiency until she was 3 months old. We went in because I suspected infantile spasms and unfortunately I was correct, we did two days in the hospital on steroid treatment and it was at that time we were given our Full Exome Sequencing testing results which told us about Pyruvate Dehydrogenase Deficiency, something we had never heard of before. Life has been very complicated and difficult but we’d do it infinitely over again and again for our sweet Nova.

Milla is currently 14 months old, our first born child. We live in Hungary. We were so excited about her arrival that we didn't pay much attention to the red flags that popped up during my pregnancy. Her 12-week ultrasound showed cysts on her frontal lobe, she rarely moved in my belly, and was very small and underweight throughout the pregnancy. However, she had a very good APGAR when she was born, so they said she was fine. Shortly, during the home check-up, her GP explained that she is very hypotonic and does not show the primitive reflexes of infancy. In the meantime, we were struggling with breastfeeding a lot. At the 4-week skull ultrasound, those cysts and corpus callosum dysgenesis were seen again. A few months later she was diagnosed with epilepsy. She has been taking anti-epilepsy drugs ever since. When she was 6 months old, she had an MRI which confirmed her cysts, CC dysgenesis, and white matter loss. Six months later, we received her genetic test results. Just then we started a ketogenic diet. In the first year, almost all developmental milestones were missed: to this day, she doesn’t hold her head steadily, she cannot push her body up onto her elbows or roll over, and she has no hand-eye coordination, probably because she has CVI. In spite of all these, Milla is a great fighter, she has become much stronger, smarter and more skilled over the past year. She has an alternative communication channel now, which is touch. However, we are still waiting for the great miracle that will arrive one day and help her stand up, run, play in the sand, and see how beautiful the world around her is.

Piper Ann O’Connor was born September 3, 2020, weighing 6 lbs 5 oz, in Grand Rapids, Michigan. At the hospital her complicated medical journey began with a failed newborn hearing screen. Besides this test, the pregnancy, delivery, and hospital experience was completely typical. We were sent home with a referral to follow up in four weeks for a repeat hearing screen. After two follow up hearing screens, she was diagnosed with moderate to severe hearing loss. Along the road, other issues were revealing themselves as well. Missed milestones, failure to thrive, not engaging in her surroundings, and more. Piper was submitted for an MRI, which found severe underdevelopment of her brain. Doctors couldn’t indicate the cause, but suspected an early stroke in utero. After several months of genetic testing, we eventually received the diagnosis of PDCD. Piper’s genetic mutation is de novo, meaning it was random, and not inherited from her parents.

Piper has a bubbly personality, and loves music, being outside, and cuddling. She is spunky and has quite the fight in her. In recent months, she has started giving intentional and responsive smiles. She is so content, and is surrounded by a lot of loving friends and family on a daily basis.

Selah Tiyamika is 4 years old and is a PDCD warrior. Selah’s mom had a healthy pregnancy and delivery, but noticed that something wasn’t quite right when Selah was around 8 months old. After seeing many specialists, we got a Cerebral Palsy diagnosis. Through a couple rounds of genetic testing, we were able to find out that Selah had a spontaneous mutation on her PDHA-1 gene. Selah was also tested and diagnosed with Autism when she was around 2 years old and is nonverbal. Selah is also G-tube fed and started the only treatment out there for PDCD, a Ketogenic diet, last year. Since then, we’ve seen an increase in energy, less sick days, and gaining weight (which is amazing since Selah was also being monitored for “failure to thrive.”) Now, Selah is in a developmental daycare, SLP/PT/OT 3 times a week, and ABA therapy 4 times a week. She has made many strides in her journey over the last year, like walking on her own! She loves to cuddle, watch CoComelon, swinging, and is starting to be interested in playing with toys. She has somehow gotten all of her classmates to take turns pushing her on the swing during recess time. Her favorite person is her Mommy! Selah has an infectious laugh and a smile that lights up the whole room. Selah is our PDCD warrior, and we can't wait to see where her journey leads.

Taite is adored by his Father (Wyatt), Mother (Georgia) and big Sister (Mya). Taite was diagnosed with Pyruvate Dehydrogenase Complex Deficiency in December 2021. He genetically inherited the gene mutation, after his mother was unaware she was a carrier for PDCD, with no previous family history of PDCD noted. Georgia experienced no complications during pregnancy or birth and his family were completely unaware of what was to come.

During his first years of life Taite endured countless episodes of ataxia, hypotonia, fatigue, vomiting, abnormal eye movements and Global Developmental Delay. With misdiagnoses and being deemed a "medical mystery," it was then (aged 2 years) we received his diagnosis, after broad genetic testing finally gave us answers.

Taite is a curious and happy young boy. He enjoys visiting the park, making new friends and loves to celebrate every achievement and hurdle he overcomes. Whether it be his recent achievements of gaining the skills to blow bubbles, or his ability to overcome a sporadic episode of ataxia and hypotonia, and now being able to once again, run hand in hand with his big sister, Mya.

Our daughter's name is Talia Bachmann. She will be three at the end of October. We live in Juneau, Alaska but we're currently in Seattle, Washington for Talia's healthcare and have been here a little over a year. Fingers crossed, if Talia stays stable we will be going home to Juneau in the middle of November.

Talia is an extremely happy toddler. She gets frustrated with the extra difficulties she is faced with, but perseveres with a determination and humor that is well beyond her years. She loves to eat (despite her restrictive keto diet), adores anything cat related, and has mixed feelings for her dog Bailey. Her favorite game at the moment is inventing new signs to add to her vast repertoire of sign language and making her parents guess what they mean. She is a comedian through and through and will never miss an opportunity to get a laugh.

Our daughter, Tate Hope Tasiopoulos is three months old and we discovered her diagnosis prenatally after many brain abnormalities were found on my 12 week ultrasound. She was born on 6/14/22 and started her treatment and keto diet immediately at Boston Children’s Hospital. Here we have her full team…genetics, metabolism, neurology, dietician, physical therapy, audiology, ENT, ophthalmology, orthopaedics, and pediatrician. We certainly feel grateful Tate's diagnosis was recognized early on, but we are still preparing ourselves for a medical journey with Tate. She is such a sweet little girl as her personality is starting to shine through.

Tessalyn is 6 years old and was born normally, without complication, and without any indication that anything was wrong. While PDCD has hurt her development terribly, she has an adventurous spirit and doesn't let her braces, leg casts, or whatever current contraption she's stuck in stop her from exploring her environment, and climbing every piece of furniture she can find.

She absolutely loves music and has the biggest, most genuine smile you've ever seen. If you speak in song you will have an absolutely captivated audience.

Theo (6 years old) was diagnosed with PDH deficiency and Leigh’s disease from his brain MRI. We initially noticed that he appeared to be gaining and then losing skills or not achieving milestones; it was put down to restrictive clubfoot correction with plaster casts and braces. At first, he was diagnosed as just hypotonic, but he fell ill with a viral infection at 13 months, started having seizures, and had to be rushed to the hospital. His lactate was high and given his motor delays, they did a brain scan which showed Leigh’s and told us he might only live to two to three years old. Over the following month he somehow managed to catch up to his peers, learning how to sit, crawl, pull himself up and cruise, the doctors couldn’t believe his progress! At 15 months he caught another virus and sadly lost the majority of his motor skills, speech and had to be NG fed. Now he's on the ketogenic diet which has given him much more energy and strength, most importantly he's managed to regain a lot of the lost skills and hasn’t lost them when he’s been ill! Unfortunately, the use of his legs has never returned. He’s now at a mainstream primary school with 1-1 support and loves it! Although his teacher says he works twice as hard to keep up with the class, he's very determined! He’s even learned to talk! We’re very proud of him.

Violet Kimberlee Pimentel was born on November 22, 2021, weighing 6 lbs 13 oz after a healthy pregnancy and uncomplicated delivery. After passing all her newborn screens in the hospital, she came home 24 hours later. In the months following, her parents, Jon and Frances, raised their concerns with doctor after doctor about her feeding difficulties, developmental delays, and lethargy. After months of being dismissed, pursuing second opinions, and being told that she would probably be fine with a little physical therapy, Violet was finally admitted to UCSF and diagnosed with a life-threatening genetic disorder called Pyruvate Dehydrogenase Complex Deficiency.

Violet now has a feeding tube and spends every day in doctors appointments, physical, occupational, vision and feeding therapies. She is on a highly monitored ketogenic diet, the only treatment option to slow the progression of her disease, as well as an extensive routine of medications and supplements. She is a sweet, happy baby who loves music, reading books, her family members and sharing her signature gummy smile with everyone she meets. Violet, along with all her PDCD brothers and sisters, deserves every chance at a happy childhood and a full life.

Wyatt “Wild” Medlen is 3.5 years old and I am Patricia Annina Medlen, Wyatt’s mother. Wyatt loves John Deere tractors, tools, cowboy boots and his idol is Spider-Man. During my pregnancy, I had some unusual complications such as a 2-vessel umbilical cord that attached to the side, not center, of the placenta. I was closely monitored for Wyatt’s growth, but overall had a typical pregnancy and delivery. He was born early at 37 weeks and went to the NICU as one of his lungs had a small hole in it. It repaired itself and we went home. Two years later, during Wyatt’s 2nd birthday, we went on a trip to Florida to visit family. While there, Wyatt became ill with croup (a common childhood virus) and he started collapsing while walking. This virus led us on a journey we will never forget. After rushing from Florida all the way to the hospital in Pittsburgh, PA, they did an emergency brain MRI and told us the news that no parent wants to hear. Wyatt was diagnosed with bilateral Globus Pallidus brain lesions. There are only a few ways the brain could be damaged in this way and a genetic metabolic disease was the first on the list of suspicion. It took countless doctors, the cooperation of 2 hospitals and world-renowned researchers to finally diagnose Wyatt with Pyruvate Dehydrogenase Complex Deficiency. He received his genetic mutation from me, his mom. After Wyatt’s diagnosis, the doctors noticed many similarities with mine and Wyatt’s health issues. After doing an x-inactivation test, it was determined that 80% of the cells in my body are diseased as well, but 20% are healthy therefore my presentation is not as severe as other cases so it went undiagnosed for a long time.

Me and Wyatt have navigated this journey together with the help of my amazing husband, Wyatt’s father, Anthony. He cares for both of us as well as our 2 other children and has been the biggest blessing. While this has been the journey of a lifetime we never dreamed we’d be on and never thought could happen to us, we’re here, we’re thriving and we’re making the best of everyday we get to share with our family. Spider-Man has become a huge part of our family as he found strength through his genetic mutation and shares his new found purpose of protecting others, spreading happiness and sharing his story with the world. Wyatt “Wild” is our superhero. He lives every single day to the fullest riding his John Deere tractor around the house and using his tools to fix things. And when he’s not being a handyman, he’s saving the world with his spidey webs.

Zoe is 4 and a half years old and was diagnosed with PDCD at age 3. Her delays were apparent from a few weeks old, yet we were told time and time again that she would catch up. Our gut told us to continue to push and she started intensive OT and PT at one. She started ST at 2, as she only had two words. We’d go two to three days a week and there were many days it felt futile. By age 3, her vocabulary had blossomed and she’d made significant progress around many of her developmental delays. She received her diagnosis two days before her third birthday and needless to say, we were shocked. What we have come to learn is that PDCD presents on a spectrum. Zoe has a complete deletion of one copy of the gene, which we’ve come to understand is why her presentation may be different than others. That being said, illness is still challenging and requires hospitalization from time to time. While she’s not on keto, getting her to eat enough food every day is always a challenge.

We tell Zoe she is “magic” or a “unicorn.” She is wild, tenacious, curious, funny, and has the biggest heart. She loves to sing and dance and can’t not be the center of attention ;) She currently loves building forts out of her bed sheets and we find her everywhere but her bed. She keeps us on our toes but she is everything.