Genie had extensive genetic testing while pregnant with her son Roland. The tests showed nothing abnormal. Very shortly after birth, Genie and other specialists noticed some abnormalities. It wasn’t until Roland was 4 years old that he received a diagnosis- ADNP syndrome.
Parents were Relieved to Get an Actual Diagnosis
Genie had some suspicions that something was wrong as soon as Roland was brought home from the hospital. He had difficulty nursing and had serious acid-reflux. He also wouldn’t make eye contact. Instead, his eyes tended to gravitate towards a light. Despite these abnormalities, he met many of his developmental milestones until he was 12-15 months old.
For the longest time, Genie and her husband were told by many different specialists that Roland had “Norman syndrome”. But that didn’t sit well with them. They believed there was something more which led them to do more of their own research to find answers. They ended up having more genetic testing done and that’s when they received the diagnosis.
“It was a shock for us,” Genie said. ADNP syndrome was not part of genetic testing when she was pregnant because it wasn’t discovered until the year Roland was born. After the diagnosis, they were given a stack of papers that explained very little about the disorder. Doctors encouraged them to get in touch with other parents whose child had ADNP syndrome, they reached out to Sandra Sermone.
They met with different specialists to see if Roland had any other medical conditions that needed to be addressed. Even though they felt overwhelmed after speaking with Sandra and the ADNP Foundation, Genie said, “…it was a relief to finally find out the truth.”
ADNP Syndrome Brings Significant Challenges
“There are moments that are challenging in public and the day-to-day reality with your child,” said Genie. The reality is, doing even simple things with their child is difficult.
The hardest part has been teaching their seven-year-old daughter how to get along with Roland. Roland likes to pull her hair and pinch her. Their daughter goes to therapy to help her learn to not fight back and just ignore his pestering. That has certainly not been easy for her but she continues to show compassion toward her brother despite the difficulties.
Children with ADNP Syndrome are Really Happy
Like other kids with ADNP syndrome, “Roland is a really, really happy child.” His personality is bubbly and contagious which makes everyone around him happy. He also fills his home with joy.
Many children with ADNP syndrome prefer to be around adults, Roland is no different. He enjoys music, swimming, the beach, being among groups of people, and is obsessed with cars. Genie said, “It’s challenging to have him in public places, but we do not hold back.” Roland’s parents know they need to try to live a “normal” life for the benefit of all their kids.
Best Advice on ADNP: “It Will Get Better”
When your child receives any kind of diagnosis, there is an initial shock or fear of the unknown. Those feelings will pass and Genie says, “It will get better.” ADNP syndrome is still a fairly new diagnosis which means researches don’t know the life expectancy rate. Many parents worry about that but Genie chooses not to think about it. Instead, she just loves having him around.
Since Genie is the President of the ADNP Foundation, parents reach out to her a lot for advice and encouragement. Because most children with ADNP syndrome are non-verbal, Genie says to them to “live in the moment, have belief, and advocate for your child.” Parents know their children best and you must speak up for them when they can’t speak for themselves.
Finally, it may take a child with ADNP syndrome a long time to reach milestones but it is important to celebrate ANY accomplishment your child makes. Parents benefit from this reassurance more than their child will.
What the Future Holds
Genie and Sandra Sermone, the founder of the ADNP Foundation, have a goal to raise $200,000 for 10 kids to be fully evaluated at the Seaver Autism Institute. They are hoping to find a cure or perhaps fund a clinical trial. The foundation is looking into an intranasal spray drug that could perhaps help children with ADNP syndrome. Mount Sinai is also experimenting with stem-cell research for autistic related disorders. It is a lot of work but these parents have hope that someday a cure will be found for ADNP syndrome.