We are Family
As of October 2019 there are over 300 diagnosed cases of PURA syndrome worldwide. However with exome sequencing becoming more frequent, that number will surely grow.
As each year passes, the number of diagnosed cases of PURA syndrome is increasing. Our need for research grows with that.....
Children and their families are located across the globe, in countries including Argentina, Australia, Azerbaijan, Brazil, Canada, Czech Republic, Denmark, Finland, France, Germany, Ireland, Israel, Italy, Malaysia, New Zealand, Poland, the Netherlands, Serbia, Singapore, Spain, Switzerland, the United Kingdom and the United States..... and yet have come together to support one another.
Meet some of the children from our PURA family.
Moz was diagnosed late 2016 with PURA syndrome. He was the second Aussie to be diagnosed with PURA and he was 3 and a half at the time. Moz had a very difficult and scary start to life. In those first few years, his condition was a mystery wrapped in an enigma. Moz has low-tone (hypotonia), but has the strength and determination of a lion. He is non-verbal, but is fluent in love. He only 4 years old, but he has endured more medical testing than most people will have in their entire lives. He cannot talk, or walk independently, but he loves life and everything that it brings. He continues to work immensely hard at everything he does, and even when fatigued, he has a contagious laughter that fills everyone with joy. Moz is a happy, brave and strong person, loved intensely by all who know him!
Taya must have liked the hospital...she spent almost all of her first four months there. Her low muscle tone continues to cause issues with fatigue, apnea, and feeding. Taya can be fed orally, but relies on her G-tube for supplemental nutrition. Coordination disturbance and developmental delay make walking problematic, but that doesn't stop her from trying when she's held upright. Taya is nonverbal, but clapping means she's excited, laughing means she's happy, and a head turn means "enough already!" A wonderful special needs school in upstate New York, USA provides multiple therapies. Taya loves family outings and playing Challenger baseball.
Ezra was diagnosed with PURA syndrome in July 2015, in Southampton, UK. His life is an adventure through hospitals, parks, therapy sessions, supermarkets and nature. Ezra absolutely loves to be out and about. This comes much easier now, as after 15 months, he no longer needs oxygen support. Ezra loves healthy food, turning books' pages, shakers and Skype-ing with his granny. He attends Conductive Education sessions, speech therapy, play therapy and swimming sessions with daddy. Ezra is working hard to achieve drinking from a cup, crawling and sitting unsupported. He's non-verbal, but learning to use a 'Yes/No' choice board. But most of all, Ezra is a happy, challenging, loved child, and always a blessing for the whole family!
Hello from Curitiba Paraná – Brazil. Benjamin was diagnosed with PURA syndrome in June of 2017, at 1 year and nine months. He is starting to sit without support now but still falls sideways at times. Benjamin eats pureed food. He is a beautiful boy and super smart but still does not speak. He has hyperplexia, which is aversion to noise and tactile sensitivity. Benjamin completes different therapies including physiotherapy Bobath, physiotherapy Cuevas, occupational therapy, respiratory physiotherapy and visual stimulation. Benjamin does not have epilepsy, but does have non-epileptic movements that usually happen due to sensory issues. He loves playing in the car, loves a sweet and loves to play with his sister. Benjamin loves music with a happy beat. He gives us a lot of laughter.
Jort is nu 13 jaar en is sinds vorig jaar gediagnosticeerd met het PURA-syndroom in Nijmegen, Nederland. Jort is een erg enthousiaste en sociale jongen die ondanks zijn ernstige ontwikkelingsachterstand van het leven geniet. Na zijn geboorte heeft Jort een moeizame start gemaakt en is na vier weken in het ziekenhuis opgenomen met ademhalings- en voedingsproblemen. De eerste vier jaar is hij vanwege apneus aangesloten geweest op een mobiele hartslagmonitor. Jort is op heel jonge leeftijd gestart met therapieen, zoals fysiotherapie, logopedie en paardrijden en volgt deze nog steeds. Mede hierdoor loopt hij nu en kan hij duidelijk maken wat hij wil.
Jort is 14 years old. He is a very enthusiastic, happy boy and enjoys live despite his serious delay in development. After he was born, Jort has had a difficult start. He has been hospitalized with breathing and feeding problems. The first four years he was sleeping with a mobile heart rate monitor because of his aponeas. Jort started at a really young age with all kind of therapies such as physiotherapy, speech therapy and horse riding. Thanks to therapy Jort can walk and communicate (in his own way). In 2015 Jort has been diagnosed with PURA-syndrome at Radboud University Nijmegen (The Netherlands).
Carter Grace was diagnosed with PURA syndrome in the USA 2015. Carter has a secondary diagnosis of Cerebral Palsy, due to damage caused from the lack of oxygen during an RSV infection at 3 weeks of age. At almost four years old, Carter is a sweet red head who has the ability to both melt your heart and make you smile. She is nonverbal and can walk unassisted for short periods. Carter works extremely hard in therapies such as physical, occupational, speech, and hippo (horse) therapies throughout the week with tremendous tenacity. She is an angel on earth, and is the perfect example of the purest form of love. Carter is stubborn, adorable, and has an infectious giggle. She loves her family more than anything.
Owen was diagnosed with PURA syndrome in Texas, USA 2014. Though Owen does not talk, he is a very intelligent, silly, sweet, fairly typical boy. He has played baseball in the Miracle League since he was 4 years old. Owen loves Harry Potter, Percy Jackson, anything to do with dragons, the Justice League and Avengers. He doesn’t let his epilepsy or his wheelchair hold him back from experiencing life to the fullest. Owen enjoys playing guitar with his Dad. He and his parents are very hopeful for the future.
Vincenza was born in January of 2013. After years of puzzling her family and doctors, she was diagnosed with PURA syndrome in 2016. Cenza enjoys going to school and being with her friends there. She loves music and being silly with her big brothers. Recently, she has learned to sit up by herself, and she uses a variety of devices to help with standing and movement. Cenza is getting better and better at communicating with a combination of signs, vocal inflections and the LAMP Words for Life app. She loves wearing pink and purple, and she has the greatest laugh.
Taylor was diagnosed in 2016 with PURA syndrome, after searching for 22 years for a diagnosis. She's a happy girl who loves music, animals and, most of all, spending time with her family!
She loves time with not only her adoring brother but her grandparents, aunties, uncles and her 18 cousins. Despite all of her struggles and physical limitations, she still has a smile that lights up the room!
Oberyn (“Obie”) was born four weeks early in 2016 in Newfoundland, Canada. Shortly after birth he was hospitalized for feeding issues, myoclonic movements, low body temperature, significant sleepiness and low oxygen saturation. He spent one month in the NICU and was discharged with an NG feeding tube. He was misdiagnosed with Glut-1 DS in September and spent two months on a ketogenic diet which didn’t improve his lethargy or hypotonia. At 9 months old, sweet Obie was given the PURA diagnosis through whole exome gene sequencing. While he still does not sit or roll, he works very hard in physiotherapy, has the sweetest smile and loves to laugh! He enjoys music and can “dance” in his jolly jumper. He still eats pureed food due to a delayed swallow, but he has a great appetite! Obie is loved by everyone around him, including his biggest fans: mommy, daddy, big brother, Chase, and his giant puppy, Huey.
Lesley is 12 years old and was diagnosed with PURA syndrome in 2014. She had a tracheal breathing tube and a gastric feeding tube for liquids (milk, water and juice), but she can eat solids normally buy mouth. Lesley goes to special school where she receives physiotherapy, occupational therapy and speech therapy. Lesley uses walker adapted to help her walk and soon will receive a specially adapted bicycle which her family are very happy about. Lesley does not speak but with her gestures and expressive eyes, she lets us know what she needs. Lesley enjoys playing with toys that have light and music, as well as going out and about to the park and Mall.
Lesley tiene 12 años fue diagnosticada con Purasyndrome en 2014. Ella tiene tráquea para respirar y un tubo gástrico para ayudarla con líquidos ( leche, agua, jugo) ella puede comer comida regular por la boca. Lesley va a una escuela de educación especial donde recibe terapia física, ocupacional y de habla. Lesley usa un caminador adaptado para ayudarla a caminar y muy pronto recibirá una bicicleta adaptada lo que nos tiene muy contentos. Lesley no habla pero con sus gestos y sus ojos expresivos podemos saber lo que necesita. Lesley disfruta jugar con juguetes con luz y sonido, y también le encanta ir al parque y al centro comercial.
Rylee spent the first week of his life in the Neonatal ICU due to issues with regulating his body temperature and feeding. He has low muscle tone and global developmental delay. While Rylee requires total care for feeding and dressing, he is a happy boy with lots of determination.
Rylee is learning to eat and walk with assistance and loves using his new supportive mobility aide. Rylee’s favorite activity is riding his adaptive bike around the neighborhood with his siblings.
Anthony has a tracheostomy to protect his airway because of obstructive and central apnea. He is on track to have it removed by the end of next summer. He also has a feeding tube which he uses for supplements. To strengthen his low-tone muscles and increase his chances of early mobility, Anthony uses a standing frame and has therapy five days a week. He can sit unsupported and is working on transitioning from the floor to a seated position. Though life has been challenging for him, it has also been joyful. Anthony’s siblings talk and play with him and keep him stimulated. He is also becoming more interested in the world around him. Anthony is a very happy toddler and a joy to be around!!
Harrison has a contagious laugh and sweet spirit. He spent the first 12.5 years of his life misdiagnosed with a mitochondrial condition, before being diagnosed with PURA syndrome. Harrison required oxygen and a feeding tube when he was younger. His muscles are still extremely hypotonic and he fatigues easily. However, he is able to ambulate independently for short distances, using a walker or a wheelchair for longer distances. Harrison is nonverbal, but uses a NovaChat communication device along with simple signs and gestures to communicate with others. Harrison’s seizures have become a struggle with the onset of puberty, but he doesn’t let this stop him. He plays on an adaptive baseball team and he loves to ride on his adaptive bike. Harrison participates in adaptive rock-climbing, enjoys camping and go-carts.
William was diagnosed with PURA syndrome in July, 2015 after 12 years of searching for an underlying cause of his symptoms. Although he is developmentally delayed, William is able to walk and talk and is now considered a beginner reader! He is fascinated with gadgets and equipment. He loves to help with anything that has an on/off switch from a blender to a vacuum to his own g-tube pump! William has made a lot of progress over the past couple of years and he continues to amaze his family and all who work with him.
Audrey is very fortunate to have doctors and therapists who never put limits on her potential because she always makes progress at her own pace. She started walking this year at three years old, but with an extremely slow gait at this time. Every step is challenge and very deliberate. Energy use will likely always be an issue for Audrey. She is learning to communicate with the LAMP Words for Life app. “More” was her first word. This year Audrey had the honor of meeting Eric, a marathon runner who represented Audrey in the 2015 Nationwide Children's Hospital Columbus Marathon.
Mellissa was diagnosed with PURA syndrome one month before her 27th birthday. She spent the first few weeks of life in and out of the hospital. In her first few years, Mellissa learnt to walk (with a wide gait) and her first words came at 4 years old. Mellissa started schooling at 3 years old, which she enjoyed greatly. She completed school last year at 26. Severe scoliosis arrived at 15 years and shortly after surgery, she unfortunately developed seizures. Complications from her seizures and respiratory issues had her in and out of the hospital over the last couple of years. However, through it all, Mellissa had shown us her contagious and beautiful happy smile. She had the sweetest disposition. Mellissa loved spending time with her large family and enjoyed traveling. She amazed us every day with her love, strength and courage! Sadly, on July 5 2016, Mellissa gained her angel wings due to complications from double pneumonia. Her journey with PURA continues through research.
Trystyn Konnor aka 'Konnor Bug' was diagnosed with PURA syndrome in August 2015. He spent the first 3 months of his life in the NICU due to apneas, feeding difficulty, low temperature and hypotonia. Konnor’s feeding has progressed greatly, with Konnor now able to chew his food and drink from a supportive cup. He regularly receives PT, OT and Speech therapy, and has started to pull himself up to a sitting position on his own. Konnor loves to have a chat and is very vocal, although he has not yet spoken words. Konnor loves listening to music, Mickey Mouse, being outside and spending time with his mum and dad. His dad is his hero.
Owen was diagnosed with Pura syndrome in January of 2016. He was born full term and spent four weeks in the NICU. He has had a team of therapists working with him since he was born. Owen started walking at four years of age with an unsteady gait. He has blossomed into a very active little boy. His curiosity and appetite for exploring anything and everything keeps him constantly moving. Owen is nonverbal at this time and several strategies are being used to try and spark his ability to communicate. We continue to use PECS, switches and sign language. He enjoys being around other children, clapping to music and playing with water. Owen is beginning to follow simple commands and assert his independence at school. His warm temperament and sweet laugh seem to provide a common ground for more typical kids his own age. He loves to snuggle, play at the park and has become quite proficient at going up the stairs.
Eliana has grown so well you’d never know she spent the first six weeks of her life in the Neonatal ICU for feeding difficulties. As a result of PURA syndrome, she has low tone leading to significant motor delays. Eliana was living in Israel at the time of her diagnosis. Through the power of social media, Eliana’s mother was able to connect with another PURA family in Serbia, and organise a meeting. Special education services are well organised in Israel, with Eliana able to play at a truly inclusive play ground and attend a special needs school. She enjoys music, dolls, and keeping in touch with her family in America through FaceTime.
After 8 years without a diagnosis, Pedro was diagnosed with PURA syndrome at the start of 2015. He is a fun-loving boy who greets every day with an infectious smile. After birth, Pedro immediately presented with difficulties including hypotonia, apnea, bradycardia, feeding, and a low body temperature. He loves being outdoors and listening to music. In fact, in the warmer months, there is nothing Pedro would rather do than to dance and clap alongside an outdoor stage. Pedro is in the process of getting a service dog to support his independence.