A Hopeful Heart
Canavan Family Spotlight – August, 2010 – Benjamin Quinn

Mommy and Benjamin

Benjamin Ragnar Quinn was born on October 12, 2001. His middle name is a tribute to the time we had spent in Scandinavia. When I was pregnant in Denmark, my husband would come home from the office and ask, “How is little Ragnar?” When he was born, he was a big beautiful baby and was completely healthy.  The resident who had been in the delivery room came to discharge us after our three day stay and asked me how I was feeling. I replied, “Fine.” I then mentioned, half jokingly, that I was going to have to speak with some of my friends who had already been through the birth process and ask them why they did not fill me in on the real deal with labor and delivery. He wheeled around, looked directly at me and said, “Just be thankful that your baby is healthy. I see many that are not.” I hugged Benjamin a little closer and felt silly for complaining when others were seemingly not as fortunate.

Little did I know our baby was not healthy at all. He would not be symptomatic at birth, but in four short months when healthy babies would be learning to sit up, holding and mouthing toys and squealing, my husband and I would be told, after some harrowing diagnostic experiences, that Benjamin had Canavan Disease. We knew it was not going to be good news when the Pediatric Neurologist said, “We have a diagnosis for what is going on with Benjamin. Would you be able to come to my office at 6pm today?” “Please bring your husband.”  She explained the course of this very rare disease and what it meant for Benjamin’s developmental status. She told us during that meeting that she had seen only one other child with this very rare condition in her 30 years as a practicing Neurologist. She said to expect Benjamin to live only to be 18 months of age.

Benjamin Quinn

The deliverance of news like this is unfathomable unless you have been there. I remember everything about that moment. It is a moving picture etched into my brain. I see my husband’s blank stare and wide eyes. I see the Neurologist’s archaic looking anatomical models of the brain scattered around the room. I remember looking at her but not really believing what she was saying to us. The news was delivered compassionately, professionally and with empathy. She broke our hearts in one fell swoop. She had done this before.  She said we would be successful, in the future. She meant with other, future children.   We were not going to give up on this baby, ever.

Flash forward to the present and a much happier time for our family.   As I write this, I am sitting on the couch. Our sweet, now eight year old, Benjamin has his legs stretched over mine and is smiling.  He thinks it is amusing that as I write this the sound of the keys on the laptop are making a rapid click, clack sound.  He is the now the big brother, as our family has expanded to include two healthy younger brothers; Samuel, is six years old and Oliver had his third birthday in June. Ben is relatively stable health-wise, but like other children with Canavan disease, he has his bouts with respiratory illnesses, seizures and feeding issues. He has wonderful care from his family, and home health care nurse, Bonnie, as well as from his many specialists at the Dartmouth Hitchcock Medical Center in Lebanon, NH. Ben also enjoys a home school program which allows him to work on school projects and stories when he is feeling well and take a break if he is not having a great day.

Like many other kids with visual impairments, Ben’s passion is music. He loves all kinds from Johnny Cash to Dan Zanes, to Krishna Das, to Classical to Lady Gaga. Our house is filled with music and we thank you, Benjamin.

It can be very difficult, at times, to attend to Benjamin’s many medical needs, especially when you worry about every little symptom or unhappy face, as we tend to do. We are always looking for and hoping not to find signs of disease progression.  Ben’s quality of life is the most important to us.

Benjamin, Samuel and Oliver Quinn

We have our own heroes to inspire us to keep moving forward.  Dr. Edwin Kolodny has worked tirelessly for his whole career to find cures and supportive treatments for diseases such as Canavan and Tay Sachs Disease. He is a wonderful resource for families. The many researchers who are looking for a possible treatment using stem cells or other neuronal interventions. Of course, we include those who raise funds for this imperative research such as Jacob’s Cure, The Myelin Project, and the Bill and Melinda Gates Foundation.  Our super heroes – the families just like ours, who may have come up short in a strange genetic lottery, and now, have a little person at home that depends on you like no other.  Just think just how great your coping and decision-making skills have become by necessity.

We love our handsome, sweet natured, ever so patient Benjamin. He also has that “special something” so often remarked upon by others.  Is it his eyes that tell a thousand tales?  His smile which always reassures us?   Maybe it is his melodic sigh?  It is a combination of all of these, we think, starting in his very center with his open and hopeful heart.