Hope is on the horizon for JdVS families.

Meet Uzziah

We are excited to introduce you to Uzziah! Uzziah and his family joined the JdVS community in 2019 after being diagnosed by a member of the JdVS Medical Advisory Board Dr. Cynthia Curry. He shares his diagnosis with other family members, meaning his mutation is not de novo. Like many individuals with JdVS, his family recognized that he still could not hold his head up at four months and was delayed in meeting milestones. Uzziah was late to crawl and didn’t walk until he was 3 years old. Now he is busy and loves to play! Additionally, Uzziah experienced feeding issues, seizures, and is very short for his age.

Uzziah continues to be supported by an agency in Fresno, California called Central Valley Regional Center (CVRC) and he receives services through Exceptional Parents Unlimited (EPU) (https://epuchildren.org/about/). Thanks to early interventions such as physical therapy, speech therapy, and feeding therapy Uzziah continues to make great progress.

Meet Ryan

Meet Ryan and the Stearn Family

Ryan’s Race for Change

Article About Ryan’s Path to Diagnosis

Ryan’s School Community Showing Support

Meet Noah

Over Noah’s first 4.5 months his mother Nicole spent countless hours and sleepless nights contemplating the cause of the myriad of symptoms that he was having. The twins were born at 37 weeks and 2 days and Noah did not require any time in the NICU. Over the next several weeks to months she could tell something was going on. Noah seemed to struggle with feeds and as a medical professional herself and with a twin to compare to she could tell that he was more than just “behind” his twin brother. So she called the pediatrician to discuss her concerns. He listened to her instincts and started to screen for conditions that may have been causing Noah’s lower tone and feeding difficulties. Labs were ordered to look for a variety of conditions including Spinal Muscular Atrophy, Prader-Willi Syndrome, and a Microarray to rule out other neuromuscular diseases. During this time they also went to numerous specialists in varying fields. They were finally connected with an amazing geneticist well versed in his specialty. The geneticist ordered a Whole Exome Sequencing test and he expedited the results in an attempt to help Noah’s parents find answers quickly.

A Diagnosis

Nicole still remembers the day she got the call delivering clear results. Noah had received a g-tube a few days before and she was back to work after exhausting her PTO on maternity leave. Words can’t describe the amount of emotion coursing through her body while waiting to hear what they found…… Noah’s results had three pathogenic variants. The first one which can cause an enlarged liver and spleen, as well as jaundice. The second causes Congenital Adrenal Hyperplasia which can lead to salt wasting, hypoglycemia and increased blood pressure. The third which was causing the majority of his symptoms – Jansen de Vries Syndrome.

A Plan

There’s an old saying in the medical community, “when you hear hoofbeats think horses not zebras”. It generally refers to the fact that doctors should look for the common causes first instead of suspect the rare and unusual. In the case of these amazing kiddos it’s more likely if you hear hoofbeats think unicorns. Who wants to be a horse anyway….. It took sometime to for Nicole to wrap her brain around Noah’s diagnosis, but she immediately switched to focus on doing everything possible to help Noah succeed and be the best he can be. He currently gets PT and OT twice a week and is beginning a NMES program to strengthen his neck muscles for swallowing. He gets twice daily meds, inhalers, chest percussion with a CPT vest and feeds via G-tube. They recently added home health nursing while they work and it has been such a blessing.

Likes

Music, nursery rhymes, toys with lights/sounds and lots of snuggles. At a young age already Noah craves affection.

Dislikes

Noah dislikes loud noises and can get easily overwhelmed if too many people or activity is occurring. He currently has a food aversion even though they are diligently working with therapy to reincorporate purées, etc.

Fun Fact

Noah might possibly be the youngest at this point diagnosed with JdVS. His twin who does not have JdVS already loves to check on his brother to make sure that he is doing ok.

Meet Wells

Wells was born at thirty seven weeks to his mother, Rachel. The pregnancy was mostly normal, except for excess amniotic fluid. Healthy at birth, he was discharged after two days in the hospital. At twelve weeks, Wells underwent surgery for three hernias. Around three months, Wells was diagnosed with laryngomalacia (underdeveloped vocal cords) which produced excess mucous and congestion. Doctors were not concerned by these relatively common issues for infants. Going forward it became clear that Wells was delayed in meeting milestones. Mild hypotonia (low muscle tone) made it difficult for Wells to sit up on his own and crawl. Around 15 months he started therapies to help him learn to walk and improve his speech. He attended these therapies with a huge smile on his face! After twenty six months he finally walked and his vocabulary was slowly growing. The pediatrician recommended visiting a geneticist at Wells’ three year appointment. His personality was coming out as extremely affectionate and he had little fear of strangers. Due to these personality traits the doctor suspected Williams Syndrome. The geneticist agreed that it was most likely Williams Syndrome and ordered a FISH (Fluorescence In Situ Hybridization) test. To everyone’s surprise, it was not Williams Syndrome or any other genetic additions or deletions recognizable through a Microarray test. Feeling confused and discouraged, the geneticist suggested waiting a year and monitoring Wells’ progress.

Finally, A Diagnosis

In the spring of 2017 the geneticist recommended the Whole Exome Sequencing test. Four months later the office called and reported that they had discovered what they thought to be the cause of the delays. While relieved to receive an answer, the mutation had only been recently discovered and there were still so many questions. After discussing next steps, Wells was scheduled to see a few more specialists and eventually discovered that he did in fact need glasses. He continued therapies such as occupational, speech, physical, and aquatic. Currently Wells is in the first grade in a general classroom and is pulled for about twenty percent of the day to receive specialized services. Occasionally he does experience sudden and severe vomiting episodes, although they have become less frequent with age. Since the JdVS diagnosis, Rachel has found hope and motivation in connecting with other families and growing the JdVS community.

Likes

Wells is sensory seeking and thrives off of social interaction. It brings him joy to pass out compliments, hugs, and kisses. He loves dogs and the beach is certainly his happy place!

Dislikes

Sudden and loud noises easily frighten Wells. He is also very sensitive and becomes very upset if someone around him is upset. Bridges also make him very nervous, which is difficult since he lives on an island! Wells is working on overcoming that fear on a daily basis.

Fun Fact

Wells will sneeze when he hears someone else do it! When asked to he can will himself to sneeze, which usually results in four to five legitimate sneezes at once.

Meet Daniel

Daniel is 15 years old. He lives with his dad, mom, and older sister. He loves seeing his grandmother Lena daily and has many family members in South Africa and Australia.

Early Years

Daniel was born at term after an uncomplicated pregnancy. Still, his parents and the medical team knew right from the start that something was wrong. He had trouble breathing and was hypotonic, which resulted in poor feeding and led to a NICU stay of ten days after birth. Daniel underwent surgery for an inguinal hernia repair when he was only nine months old. Due to recurrent ear infections, he had several ear tube placement surgeries. Daniel always seemed to be behind in reaching his milestones. When he was measured and found to be below the zero percentile on the growth curve at eighteen months, his pediatrician referred him to a geneticist, Dr. Cynthia Curry. She did a genetic workup and requested an MRI of his brain, which showed some features of the condition, Septo-Optic Dysplasia. Genetic testing was also done, which came back negative. Due to his small pituitary gland found on the MRI and his delayed growth, she referred him to Dr. Geffner, an Endocrinologist at CHLA, for treatment. He underwent several tests, resulting in the diagnosis of growth hormone deficiency. The treatment for this condition is a daily injection of growth hormones, which he started at age two. Once Daniel started attending preschool, it was clear that he was quite different from his peers. He was extremely social, sensory seeking, and had trouble with impulse control. This behavior led to him needing extra support to stay on track and transitioning between different activities from an early age. Daniel started his Kindergarten year in a special day class with a 1:1 aide due to his increased need for support. He recently completed middle school in special education, and is currently attending a charter high school.

Diagnosis

Williams Syndrome was considered as a diagnosis for Daniel due to his extreme hyper-social personality, but the test was negative. In 2017, after an article on PPM1D mutation was published, Dr Curry contacted his family to request additional testing. The test came back, and they finally had an answer. Daniel had a rare genetic disorder known as PPM1D at the time, as this was the gene affected. Very little information was available at the time, making it challenging to navigate Daniel’s medical care and determine the need for therapies.

Likes

Daniel loves people – he makes friends everywhere! As a result, his family expects to stop and talk to several people when out and about with Daniel. He frequently gives hugs and compliments and is brutally honest. Daniel loves cars, learning words in different languages, and enjoys building blocks and puzzles. He likes to eat anything crunchy and garlicky. Daniel’s favorite place on earth is Disneyland.

Dislikes

Daniel does not like to be alone. He has a very social personality. Daniel does not cope well with loud noises or people in distress and gets very upset when others cry or are sad.

Fun Fact

Daniel has traveled to South Africa several times and to Australia once. He was featured on America’s Got Talent when he received an award at school and demanded louder applause from the parents in the audience.

Videos

Daniel on the News

Daniel on America’s Funniest Videos

Daniel’s Feelings on Virtual Learning