November 25, 2020 - February 6, 2021

Esther Love Romano was born on November 25, 2020. At the 20 week anatomy scan she was diagnosed with possible hydrocephalus, and some other anomalies. Esther remained in NICU care her entire life, and was treated at 3 hospitals: born at Winnie Palmer in Orlando, transferred to Johns Hopkins All Children’s in St. Pete, then transferred and treated at Tampa General. JHACH was the hospital that ordered the correct genetic testing which showed Esther’s diagnosis of PDCD confirmed via blood sample. Esther’s condition was the result of a random mutation, not hereditary. Esther had major issues with breathing due to high levels of lactic acidosis, which at many times was too high to quantify. Esther’s condition was the most severe case of PDCD the doctors had seen. Esther passed away on February 6, 2021. Forever loved by her family.

March 18, 2022 - May 3, 2022

Our baby girl, Hallie Sandra O’Neill, was first diagnosed with brain abnormalities at 20 weeks scan. After amniocentesis ruled out the main birth defects and MRI confirmed severe hydrocephalus we decided to continue on and couldn’t wait to meet our daughter who would no doubt need profound assistance throughout her life.

Shortly after birth Hallie needed ventilation and went into severe lactic acidosis and further genetic testing was requested, Hallie was confirmed to have pyruvate dehydrogenase deficiency (PDH) as it is called here in Scotland affecting her PDHA1 gene. We were told due to her being so severely affected during pregnancy that she “would not survive the baby stage.” Reluctantly the team were willing to give the keto diet a chance, but her brain was so affected that she didn’t survive long enough for us to establish this.

As heartbroken and devastated we were, we loved every minute spent with our daughter, she eventually was able to breathe unaided and got to come home for Easter and spend lots of time with her two sisters Jessica and Quinn.

She filled our hearts with love and memories that will last forever.

Our little warrior princess.

October 10, 2002 - March 20, 2012

We knew right from the start that Lauren had some big challenges ahead as a scan had shown massive brain damage. A termination had been offered but we strongly felt that she deserved every possible chance of life.

Lauren was born quite normally, didn’t score well on the AGPAR and couldn’t feed orally. She spent 5 weeks in neonatal. She was beautiful with thick blond spiky hair and big blue eyes. She was tube fed but the myriads of tests showed nothing abnormal to be found. Getting her home was our first challenge as she was so floppy that her airway got blocked if you sat her upright.

In those early days we were told she was blind, deaf, and she would never feed. Even then, Lauren baffled doctors. We discovered she wasn’t deaf, even though she failed all the tests and she wasn’t completely blind. Lauren started drinking from a bottle, and in time eating pureed foods so we finally got rid of the NG tubes.

We chose to have another baby and at 9 weeks pregnant it came to light that some tests ordered in neonatal hadn’t been reported on. The results all pointed to a metabolic problem, with high lactic acid levels. The mystery condition was confirmed as Pyruvate Dehydrogenase Complex Deficiency – Lauren was deficient in the enzyme needed to process carbohydrates.

Other than seizures, Lauren did well. Way behind on milestones, needed assistance for everything and couldn’t sit up, roll or talk but she was eating well, albeit slowly and although she didn’t smile, she didn’t cry a lot either. We adored her, as did everyone who met her.

At about 3 years old, Lauren began struggling with infections. Every cold became an issue as she couldn’t clear the secretions. She was in the hospital a lot and she was getting increasingly tired. Her feeding was also deteriorating. We could only feed her three types of food and that reduced almost weekly to just yoghurt. Eventually we reverted back to the NG tubes and Lauren deteriorated fast. She ended up in the ICU on a ventilator where she stayed for about 2 months.

Doctors were baffled until a fellow PDCD family suggested the ketogenic diet. Within a few days she was much better and brighter, and it was agreed that a tracheostomy might help. Lauren finally came home 4 months later.

Lauren went from strength to strength. She started school, began smiling, took up horse riding and became more alert and aware of everything. We went on many holidays and did something special every Christmas. Her birthdays were always a great cause for celebration and we did something extra special every year. Her tenth birthday was set to be a huge party with live music, lights and spectacular dresses - had we made it. She learnt how to manipulate people with great success. She won awards at school and was even on the TV. We gave her every opportunity, tried to let her experience everything and made as many memories as possible. Lauren had outlived her prescribed 4 years and every year now was a bonus.

In the last year or so of her life, Lauren began batting at toys; she seemed to be more aware of her hands and what she could do. It was wonderful to see and her teachers were thrilled. With it; however, came repeat infections. She was already on small amounts of oxygen but she seemed to be losing her colour quicker and more frequently. She was also struggling to maintain her body temperature. Nothing was normal and she became very complex to nurse. She was still happy, cheeky and smiley and displayed an immense strength of character.

The next few hospital admissions which came in quick succession saw her going straight to HDU and straight onto a respiratory stimulant which helped for a while. Eventually she was allowed home on the drug. We knew it wouldn’t hold her forever but hoped it might give us a few more months. She died at home just days later aged 9 ½ years old. She fought the condition to the end but it ultimately won.

Throughout Lauren’s life she touched many people’s hearts and was an inspiration to everyone. Considering her health was often fragile, she went to school and lived a full life. She adored her three siblings, noise, lights, sunshine, going out, showers and cuddles. She was and always will be our princess.

My beautiful gave us the most beautiful and blessed 38 days of our entire lives. Leonora at week 20 of pregnancy, they detected fluid in my baby's head. At that time, SEVERE VENTRICULOMEGALY (fluid in the lateral ventricles) was detected and we were presented with the option of terminating the pregnancy. At that point, we investigated and found that it could probably be a matter of hydrocephalus when he was born, but there were many positive prognoses for the normal-seminormal development of my baby. As time went by we realized that his ventricles were still obstructed and were still filling with fluid but as I said before, at birth he would have a shunt to drain the fluid and we thought that everything would be fine. My baby was born on November 29, and it was a devastating scenario: since he was born, my baby was in the NICU connected to a thousand devices and they couldn't lower his lactic acid levels, they were through the roof, he couldn't eat because even the blood hurt him. breast milk, in addition to hyperglycemia, hypotonia, kidney risk, hyperbilirubin and a few days ago the neurosurgeon arrived and told us that he has agenesis of the corpus callosum, little white matter and a lot of fluid that also affected his brain. At first they thought that the ventriculomegaly was an isolated problem but now we know that his total diagnosis “pyruvate dehydrogenase deficiency” was the one that affected the central nervous system and what caused the whole issue in his head. We continued in intensive care but the prognosis was very very bad and a palliative care team approached us to determine what objectives we had for his quality of life because the medical team did not see it possible for Leo to leave the hospital if it was not artificial.

We agreed to stay with the pain, with the sole purpose of making her go away peacefully. No more wires, pickets and probes for a long time but leading to the same end. I would have loved it and I dream every day of having Leo with me, however, although my story has a different outcome, I wanted her to be validated and known, she gave us 38 days where she only knew love, rays of sunshine and cuddles. I have no choice but to be her legacy: to be the people we would have liked her to be and to be how she saw us. Leonora will always be loved, not in a million lives would I choose something different if it meant not having had her and I would give everything I have to have her again, even for 20 minutes.

For the record, we’re from Mexico but we have my little baby at Children’s Hospital in Nebraska.

March 15, 2017 - December 23, 2018

Our first son, Theo (Theo Liam Bischoff), was born on March 15th 2017 in Stuttgart, Germany. He was diagnosed with PDHA1-Deficiency at the age of 4 months after we went to a check up at the neuropediatric department of University of Tübingen because of a low muscle tone and slow motorical development. After starting a modified ketogenic diet by Prof. Freisinger he started developing really well, started laughing, pushing himself up, all the steps we had waited for. He did it all in his own timeline, but by the age of 18 months he could nearly sit by himself and he was a lovely, happy, always satisfied, shining little boy. Besides a few short stays at the hospital because of minor colds or vaccinations, Theo seemed like a perfectly normal boy - just a little delayed in all his development. He loved eating, he loved his keto cal bottles, he loved sitting in the stroller watching people and nature around him, giggling with mum and dad and the rest of the family. He even stayed over nights at granny’s or cousin‘s house with no problems. We had wonderful vacations with him, flew to Spain, showed him the beach and the sea, showed him the Swiss alps and went on hikes with him. In October 2018 he had a bad cold with a terrible cough and we had to call the ambulance because he had trouble breathing for the first time. After a few days in the hospital he seemed to recover well, but on the day of dismissal he decompensated out of nowhere and needed intubation. After a never ending week, they tried to wake him up and get him off the vent but in the MRI they already saw the damage the virus, the PDHA1 deficiency, and the lactate acid had done to his brain. He woke up, but he was devastated, couldn’t move, couldn’t swallow his own saliva, he was in so much pain because of horrible dystonias and he was scared, and didn’t understand what had happened. He fought to get better for nearly 2 months but he kept getting hit back by another minor cold or just by the exhaustion of the whole situation. The night before Christmas, 23rd of December, our little angle spread his wings at the Kinder-Hospice Stuttgart and flew off. Some of our closest friends and our family kept saying Theo was an angel even before he got so sick and passed away. It is true though. Theo was an angel when he was born, he came to stay for 22 wonderful months, he made us parents, he gave us the greatest gift one could make by showing us what is really important in life, and then he spread his wings and went back to where he came from. We miss him painfully every single day.