It can be lonely having a child with special needs, a condition my family is still coming to terms with. It can be lonely when you walk down the street and see parents with their "normal" boys and girls skipping or scootering to school and knowing that your child's life, and yours, will never be like theirs.
It can be lonely when you go to play groups and catch a glimpse of another parent noticing that something isn't quite right about your child, that he isn't walking or talking or sitting up straight, but not knowing what, if anything, to say. Should we bring it up to break the ice? Do we need to explain what's going on every time we meet someone new? Do we need to go into the specifics that our 2-year-old son Henry was recently diagnosed with a genetic disorder that doctors have told us will require him to have life-long care on the level of caring for a baby?
Even staying at home watching television can be lonely because every advertisement for kitchen cleaners, life insurance policies or the latest, safest SUV seems to show toddlers taking their first steps into the embrace of beaming moms and dads. Doctors say Henry will probably never walk, talk or be able to do basic tasks like dress, feed himself or go to the bathroom unattended. When those ads come on TV, we tend to change the channel.
It's all still very fresh and raw. We are relatively new arrivals to the very brave special-needs community. We learned in September that one of Henry's genes called MECP2 is mutated, which means he doesn't produce enough of a protein his brain needs to control his mind and body. There is currently no cure.
For us, and undoubtedly for others facing similar challenges, the diagnosis changed everything in an instant. We mourned the future we hoped he would have of school, sports and perhaps a family of his own one day. We mourned the future we thought we would share with him. We had to come to terms with a new future, also full of love, but profoundly different.
My wife Mary, formerly a television producer, is now a full-time care provider. She takes Henry to daily physical and occupational therapy appointments, including two at a hospital each week.
She turns every meal into an opportunity for Henry to practice the fine motor skills he lacks, encouraging him to try to pick up his food and find his mouth. We're extremely lucky that Mary can dedicate herself to Henry full-time and that we have the means and insurance to cover the costs of his care. Many other families with special-needs children are not as fortunate.
We also know that we are only at the starting line of a marathon.
Part of Henry's diagnosis is that his condition may change over time. He can now move on his own. He does a kind of belly-down "army crawl" and enjoys playing with his toys. He is generally very happy and laughs and giggles often. We try our best to fill him with love, never missing a chance to cuddle him, rub his hair, stroke his earlobes and to tell him how much we love him. What keeps us awake at night is that doctors have told us his muscles and joints, including his wrists and neck, could go rigid, making play and even turning his head to look at something far more challenging, if not impossible. Doctors say he is also more than 70 percent likely to develop epilepsy in the not-distant future.
This is not a story any journalist or parent wants to write, but at least I'm used to television cameras. It took a lot of courage for Mary to talk publicly about Henry. We both felt it was important to help raise awareness about genetic disorders and to let other families with special needs children know that while it can feel lonely out there, they are not alone.
We also went public to say there is hope. We're told Henry's condition is so rare that it could lead scientists to a treatment to transform Henry's life and the lives of many other children with severe genetic disorders.
It's more that just a dream. One of the leading scientists in the field, Dr. Huda Zoghbi, director of the Duncan Neurological Research Institute at Texas Children's Hospital, has already taken samples of Henry's cells and started working on them. She believes Henry could hold important keys for science.
Henry's genetic mutation means he doesn't produce enough of a protein, which like the gene that makes it is called MECP2. The protein is vital for brain function. It is extremely rare to find boys with MECP2 disorders for the simple and tragic fact that they generally don't survive birth or their first two years of life. Henry is not the only boy known to have survived as long has he has, but several doctors have told us his specific mutation is one of a kind.
"Henry's mutation is unique in the world, and because it's unique is what makes it so valuable," said Zoghbi, who is also a professor at Baylor College of Medicine. "So the point is that sometimes from the rarest thing, you can learn the most. And that's really important to know."
MECP2 imbalances are far more common in girls, where the reaction is different than in boys, but also devastating. In girls the condition is called Rett syndrome. It afflicts roughly one in 10,000 girls, and it is a particularly cruel disease. Rett girls (as they're known) start off behaving like other babies with no outward signs of anything wrong, until everything goes wrong. Around their first birthdays the girls start to regress, losing balance, motor skills and speech. They lose purposeful use of their hands and start wringing them together in an uncontrolled motion sometimes called "hand washing." Zoghbi says watching mothers watch their daughters slip away made her dedicate her life to defeating the condition.
More than a decade ago, Zoghbi, an investigator at the Howard Hughes Medical Institute, and her team at Baylor College of Medicine discovered the connection between MECP2 and Rett syndrome. Now, she wants to take what she's done to the next level and find a treatment.
"The process from gene discovery to a treatment is a long and arduous process. But thankfully the technology keeps on improving," she said.
"We've learned from our work and the work of many, many scientists that work on this disorder. We've learned quite a bit to where we are really at the cusp of finding the disease-modifying therapies."
Zoghbi's plan of attack sounds deceptively simple and straightforward, at least as far as genetics is concerned. She collected Henry's cells, reproduced them in large numbers, and added color markers to identify the MECP2 protein and monitor its levels. The next step is to create animal models, mice biologically engineered with Henry's specific mutation, which her lab will use to test ways to safely boost MECP2. If she can crack the puzzle of finding ways to boost MECP2 levels, it could be a major breakthrough for Henry and Rett girls, and the strategy could potentially help many others with debilitating disorders, including autism.
"I'd like to take it way beyond Rett syndrome. We know today there are hundreds of genes that can cause autism or can cause intellectual disability or complex psychiatric disorders," Zoghbi said. "The platform we're setting up using Henry's cells and the platform we're setting up to study Rett syndrome, when successful, can be applied to any of those diseases."
A lot of hard work needs to be done to make this a reality. Without a treatment, Henry's prospects for a life in which he can interact with and understand the world around him are not good. A breakthrough could improve his physical and mental abilities, we hope significantly. A breakthrough has the potential to give him, and many others, a future.
Those wishing to find out more about Zogbhi's work with Henry, Rett syndrome and genetic research can find it here.
Finally, to Rett and other special needs families, Mary and I would like to say we are new to your circle, admire your strength and have a great deal to learn from you. We are here to help.