Christine became a full-time caretaker of three young children at 68 years old.
On January 6, 2018, Christine was granted custody of her great grandson, Noah, and his two siblings who were being severely neglected. Noah, an infant at the time, had significant developmental issues, and had the court not ruled in Christine’s favor that day, Noah would certainly not be where he is today.
This is their story.
Noah was just 19 months old when Christine began taking care of him and his siblings, Scott, 4, and Serenity, 3. He could not walk or even crawl, and he never made eye contact. It was apparent that Noah was developmentally delayed, so Christine talked to his pediatrician and from there he was put in the care of Dr. Catherine Nowak. Together, their first step was to submit Noah for genetic testing, and in the fall of 2018, they received the results. Noah was diagnosed with ADNP syndrome, a neurodevelopmental genetic disorder caused by mutations in the ADNP gene, which produces proteins that are extremely important for the proper development and maturation of the brain and other organs.
Because Noah’s disorder is so rare, Christine did not know what to expect developmentally. She now had a diagnosis, but she had no knowledge of how to care for Noah, or what care was even available for him. Noah also had respiratory issues, and at the time, he cried very little and could not talk, so it was difficult for Christine to know when he was hurting. He also couldn’t walk, so he had to be carried everywhere. Christine was unsure about what Noah could learn and whether he’d ever be able to walk or talk in the future. She was hopeful, but she knew he would need programs and services to help him thrive and had no idea where to start or how to get those services.
For Christine and other parents or caretakers of children with genetic disorders, most of the roadblocks they face are due to a lack of help and resources. It can be difficult finding necessary therapies and services and there are often financial challenges in being able to afford them. That’s where Dr. Catherine Nowak and The Genesis Foundation for Children come in. According to Christine, Dr. Nowak is “a blessing.” She says, “Catherine is kind, patient and addresses all of my concerns.” Christine continues, “[All of] my child’s doctors are wonderful, they answer all my questions, give me guidance to help Noah and just keep me hopeful.” This type of support Christine feels is exactly what the founder of The Genesis Foundation, Dr. Murray Feingold, sought to achieve when he developed The Feingold Model of Coordinated Care over 40 years ago. He pioneered a method of holistic, wraparound care where doctors can spend hours, not just minutes, with parents or caretakers to help them understand the diagnosis, offer support with planning for the child’s needs, and recommending resources and specialists so they can better navigate caring for their child. Today, this model continues to help patient families affected by rare diseases through The Murray Feingold Coordinated Genetics Service at Mass General for Children and their satellite clinics, and it’s all made possible with funding provided by The Genesis Foundation for Children.
Now, with the help and support of Dr. Nowak, there was a plan set in motion for Christine that would allow Noah achieve his full potential. In addition to early intervention, he would need appointments with multiple specialists. He needed to receive physical and speech therapy, as well as see a neurologist every 5 months, and Dr. Nowak every 6 months. That’s where Mass General’s coordinated care services make such a difference. The Genetic Counseling Assistant (GCA) is a new addition to the hospital team thanks to funding from The Genesis Foundation for Children, and part of their job is to help schedule all of Noah’s specialist appointments for Christine. The objective here is for all of his specialist appointments to be on the same day, so that the family can make as few doctors trips as possible. Even better, one of Dr. Nowak’s clinic locations is on the Cape, which is close to Noah’s family and helps alleviate the burden of a long drive into the city.
Today, Noah is 7 years old and has come so far. 
He finally started to crawl around 30 months old, and at 3 he went to a school for children that have developmental and physical issues. His physical therapist got him to walk with a walker, climb stairs, negotiate uneven surfaces, and finally to walk on his own. His speech therapist taught him easy signs to communicate, and then just recently he learned how to use an iPad to talk.
“He is an exceptional child, a beautiful child, a loving child. He understands when I say something to him and follows easy directions. He loves being with the kids at school. He loves doing things with us, like going to the park, playing outside, and listening to his musical toys. It has been a very lonely and difficult journey at times, but a rewarding one to see the progress Noah makes every day, and how loving and happy he has become. I would do it all again if I had to just to make sure all three kids are safe, happy, and loved.” – Christine
To support more families like Christine and Noah, donate to The Genesis Foundation for Children and make a direct impact on the life of a child with a rare disease or genetic disorder.