In 2021, Josie Gosney entered the world and her parents couldn’t be more thrilled. When she was first born, Josie showed signs that something might be right. But after a stay in the NICU, she went home. Still, a few months later, her parents still had a nagging feeling that something was going on with their daughter. Shares WBNG, the parents took Josie to the doctor for further testing. It was this testing that identified a more concrete diagnosis: 5P Minus syndrome, also known as Cri du Chat syndrome.
As Gabriella, Josie’s mother, explains, it was extremely difficult to learn what this diagnosis might mean for Josie. The doctors who diagnosed Josie were not very well-versed in Cri du Chat syndrome. They struggled to provide the family with information, leaving Gabriella and her husband to do research on their own. Now, the family sometimes acts as an expert, teaching medical providers about what Josie is going through.
Outside of raising awareness in healthcare, Gabriella also hopes to raise awareness in the larger community. She shares that Josie undergoes physical, speech, occupational, and feeding therapy weekly and also may use sign language to communicate in the future. The family is learning as well.
In raising this awareness, Gabriella hopes that people will develop a deeper understanding of what rare disease families face. She also hopes to show others how research is often spurred by families. It can sometimes be difficult to encourage larger companies to perform rare disease research. Gabriella is raising funds for the Cri du Chat Research Foundation to advance clinical research in gene therapy. If you’d like to contribute, you may donate here.
What is Cri du Chat Syndrome?
Cri du Chat syndrome is a rare genetic disorder caused by an abnormal deletion of the end of the short arm of chromosome 5. The size of the deletion varies between affected individuals. Research has suggested that larger deletions are associated with more severe symptoms. This condition is usually not inherited but occurs spontaneously. Symptoms of this syndrome can include:
- A high-pitched, cat-like cry
- Developmental delays
- A round face with a broad nasal bridge, widely-spaced eyes, and an abnormally small jaw
- Strabismus (crossed eyes)
- Low-set, rotated ears
- Cleft palate
- Split uvula
- Microcephaly (smaller-than-average head size)
- Severe intellectual or psychomotor disability
- Hypotonia (decreased muscle tone)
- Feeding difficulties
Right now, there are no cures for Cri du Chat syndrome. In fact, there are no treatments specifically designed for children born with this condition. Instead, treatments are designed to reduce or minimize symptoms. Early intervention and support is crucial.