Hi, my name is Vanessa Castillo. My husband, our two older sons, and I have lived in New York for most of our lives. In December 2020, during the COVID-19 pandemic, we decided to move to Connecticut in hopes of providing a better environment for our children. After spending three years of settling in, we decided to grow our family once more.

The day I announced I was pregnant brought tremendous joy to our family. My pregnancy progressed normally, all of my laboratory results were healthy, and our baby boy appeared to be growing well. However, during my 20-week anatomy scan, we learned that our baby, Jayse, had Multicystic Dysplastic Kidney Disease affecting his right kidney. We were told he would likely function with only his left kidney, while the right kidney would gradually shrink. Although we knew there would be challenges ahead, we were reassured that many individuals live healthy lives with one functioning kidney as long as complications such as infections do not occur.

At 38 weeks, I was induced due to insufficient amniotic fluid. During labor, Jayse became distressed and was found to be breech, requiring an emergency cesarean section. After birth, he spent five days in the NICU while doctors monitored his kidney function. His nephrologist recommended genetic testing for Jayse and our family to determine whether his kidney condition was inherited.

The results changed our lives forever.

We learned that Jayse has a rare genetic condition known as a RHEB-related disorder caused by a pathogenic de novo variant, meaning it was not inherited from either parent. At the time of his diagnosis, we were told that only two other individuals in the world had been identified with the same condition, both living in the Netherlands. Because the disorder is so rare, very little information is available. What we do know is that it has been associated with intellectual disability, autism spectrum disorder, absent speech, seizures/epilepsy, short stature, macrocephaly, hypertonia, speech impairment, and other conditions that have not yet been identified but reported in the other two variant case studies.

Since receiving this diagnosis, Jayse has required care from numerous specialists, including Pediatrics, Nephrology, Urology, Neurology, Cardiology, Gastroenterology, Physical therapy, Occupational therapy, and Speech therapy. His medical needs continue to grow as we monitor his kidney function, neurological development, and overall health.

Watching your child face health challenges is something no parent can truly prepare for.

The financial burden on our family has been significant. My husband works hard to support our household, but because we cannot afford childcare, I was forced to leave my full-time position as a medical assistant and reduce my work to a part-time evening schedule of 24 hours per week. While this allows me to care for Jayse and take him to his appointments, it has also reduced our income considerably. We continue to face copayments for specialist visits, Emergency hospital visits, imaging studies such as; MRIs, ultrasounds, EEG, therapies, and other medical expenses while still trying to cover our utilities, groceries, transportation, and daily living expenses.

Despite these challenges, Jayse made remarkable progress when he was receiving consistent therapy. With weekly physical therapy and occupational therapy twice per month, he learned to sit independently at 8 to 9 months, crawl at 11 months, pull to stand at 18 months, and cruise along furniture. Unfortunately, as medical expenses increased, we were forced to reduce some of his therapy services and rely more heavily on Birth to Three home visits.

In January, we noticed a significant change. Jayse could no longer pull himself to a standing position, leading to urgent evaluations at Yale New Haven Hospital, including MRI and EEG testing. In March, we discovered he could no longer lift his left arm above his shoulder, resulting in additional hospital visits and testing. Most recently, Jayse has lost the ability to crawl, and despite extensive evaluations, including brain and spinal MRIs that appeared normal, we still do not have answers as to why he is experiencing developmental regression.

Watching our son lose skills he worked so hard to achieve has been heartbreaking. The emotional toll on our family has been immense. In addition to caring for Jayse's complex medical needs, I have sought counseling for myself and joined parent support groups to learn how to better advocate for him. We have also sought support for our middle son to help him understand his brother's diagnosis and strengthen their bond as siblings.

Through this journey, we have learned the value of hope, resilience, and the incredible impact of support from others. Every kind word, prayer, donation, and act of generosity reminds us that we are not facing these challenges alone. It may also allow us to pursue additional consultations and second opinions that could provide new insights into his condition and developmental regression. Most importantly, it would help us continue fighting for every opportunity to improve Jayse's quality of life and future potential. Any donation will help go towards, copayments, hospital admissions, radiology testing, therapy visit, gas, transportation, and more.

Thank you for taking the time to learn about our story and for considering supporting our family.

Your generosity truly makes a difference. ❤️

Sincerely,

Vanessa Castillo