On May 29, 2021, Molly Mae Jones was born and completed our family of five including Mom, Dad, big brother Willie (5) and big sister Maxine (7). Shortly after birth, our midwife noticed Molly’s breathing was labored and she was sent to the NICU at Morristown Memorial Hospital.
After spending 3 weeks there she was transferred to the Children’s Hospital of New York to be consulted by their ENT team. Shortly after transfer, at just 1 month old, Molly underwent her first surgery to help open up her airway. About a month later she had her second surgery to place a feeding tube which was a necessity due to silently aspirating. In August of 2021, Molly was finally released from the hospital and our whole family was together for the first time but without a diagnosis of what was causing Molly’s medical complexities. It was not until about 10 months old that we finally received a diagnosis. Molly has ZC4H2 gene mutation (ZARD: Z- finger Adverse Rare Diseases). She is one of only about 166 known cases in the world.
All of the children with ZARD have a wide variety of symptoms. Molly’s individual presentation of ZARD has caused:
- Laryngomalacia – a soft airway which required the corrective surgery at 1 month old;
- Hypertrophic Cardiomyopathy – an enlarged left ventricle of the heart which is closely monitored by a cardiologist.
- Seizures – she started having seizures at 8 months old, but they have been managed so far with 3 different medications given twice daily. Cognitive and physical delays such as inability to walk, crawl, speak, and eat. For this she sees Physical Therapy, Occupational Therapy, and Speech Therapy every week and probably will for her entire life.
- Joint Contractures – extreme tightness of her joints, mostly her hips, elbows, and shoulders. She sees a physiatrist for this and gets botox injections to help relax them. A small optic nerve causes poor vision and sensitivity to light.
- Nystagmus – random and uncontrolled eye movement making it hard for her to focus and visually attend to things.
Molly’s biggest hurdle is her silent aspiration of food and liquid when eating or sick. This prevents her from eating or drinking by mouth, so she is completely G-Tube dependent. She gets all her blended meals through syringes and two feeds overnight through a feeding pump. When she gets sick, her aspiration causes her to get frequent pneumonia and collapse of her lungs. She has been hospitalized 13 times in just over 2 years for respiratory illnesses. Her current/latest stay has been over 2 months long and resulted in an additional surgery and Molly needing to be on a BiPAP machine every night while she sleeps. To help manage the severity of her illnesses we complete 3 daily respiratory treatments including a nebulizer albuterol treatment, a percussion vest, a cough assist machine, and steroid inhaler.
While all of that information is important to understand Molly’s life, the most important thing to know about Molly is that she is incredibly happy and resilient. She has a positive impact on everyone who gets to know her simply from her contagious spirit. Her hardships have caused struggles in our family but have also provided us with perspective, love, and community. With her disease being so rare there is not a lot of information on what to expect in the long term as far as health, development, or quality of life. We just take it one day at a time and give as much love and care as we have. Molly is unique, complicated, beautiful, energetic, and pure-hearted and we are so grateful to have her in our family.