Henry’s Story
Henry was born in 2007 after an uneventful pregnancy. Although he was jaundiced and had issues latching on, it was only when he was 8 months old and not sitting up that we became concerned. We were referred to Early Childhood Services and since that time, Henry has been receiving physical therapy, occupational therapy, special education services and speech both through the school district and privately. Originally, we were most concerned about his hypotonia, but over the years, we have discovered that his fine motor and speech skills are also very delayed.
After five years of testing and Henry being tentatively diagnosed with ataxia, a form of cerebral palsy, and PDD-NOS, we requested that Henry have whole exome sequencing done. His neurologist insisted Henry again be tested for angelman-like syndromes. In October 2012, we received a phone call from the genetic counselor that the lab found a nonsense mutation in TCF4. Finally, Henry had a diagnosis of Pitt Hopkins Syndrome.
Every milestone has been hard won. Henry began to sit up at 14 months, crawled at 2 years, started walking at 3, stood up from the ground at 3 ½, began walking up steps with one hand on the railing just this year. Many of his physical gains have been due to the wonderful impact of hippotherapy, or therapy on a horse, that Henry has been doing for over a year. Henry has more than 50 words at this time but does not combine them. He is starting to answer questions that I or his teachers ask with one word responses. With a combination of repetition, sign language, PECs and his assistive technology system on his iPad, he is becoming more proficient at communicating. However, Henry lost language (at age one, he did have a few sentences like “I love you, silly goose”) and often I can see how frustrated he feels when he tries his best to communicate and cannot do so. Although progress has been slow with various things such as potty training, riding his tricycle and swimming, we feel he will one day be able to do all of this if we bless him with our patience.
I would say, of all that he loves, Henry’s favorite thing is sharing a laugh. He’s rather mischievous, quite the stinker. Recently he has started hiding, and when we start to panic about where he has gone, he will come out of hiding laughing hysterically. He adores his books and knows his alphabet, numbers up to ten, colors and shapes, all demonstrated through pointing and the use of his iPad. Henry will dance to music and is starting to do the motions along with some of his favorite songs. He desperately wants to be one of the boys as he has two older brothers, age 10 and 8, so if they are doing something, like playing basketball, he will try his hardest to be with them.
Henry’s abilities are not what define him. He continues to amaze us with what he knows and what he can tolerate. He has taught my older children that compassion is the most important part of the equation. Henry is often the most involved child in a classroom setting but also the most loved. Henry is most concerned about others and understands the emotions of others more than most children. Henry is a funny, beautiful, strong, well-loved little boy.
