A Closer Look at HDAC8: Cade
We did not receive a CdLS diagnosis until Cade was 11 years old, and by that time we’d done extensive testing of all kinds. We got our diagnosis through whole exome sequencing, and it really was the last option for us to nd out what was cause was for all of his issues.
We were actually very happy to finally have an answer or underlying reason for his “laundry list” of problems. I felt like we finally had a place to belong.
Cade, who is 13 years old, takes 15 different medications daily. He talks to people when he feels comfortable, but he does have social language issues and has been in speech therapy since 14 months of age. He gets speech therapy and occupational therapy (OT) at school. He was late on all developmental milestones and started our state’s early intervention program when he was five months old. Currently he sees specialists in ophthalmology, endocrinology, immunology, sleep/pulmonology, psychiatry, psychology, and gastroenterology. In the past he’s also seen neurology, ear, nose and throat, and dermatology.
In the past – for four years – he had Intravenous immunoglobulin (IVIG) infusions every four weeks. At this point, his immune system is better, and he is on daily prophylactic antibiotics, but it is concerning to me how fast things can change. Education issues are getting harder as well.
I feel like we’d gotten so many answers, before we even had a diagnosis. Since we did the sequencing, we do know that I passed on the gene change. I do have concerns that my daughter may also carry the mutated gene.
I think the most important thing for any family facing challenges to do is to find support. It’s important to find support locally even though the people you find will most likely not be dealing with the exact same things you may be going through. As a parent, you need to nurture yourself so you can be a better nurturer for your family.
