By Jordana Holovach
May 15, 2006
Mothers will be showered with adoration this weekend, from breakfast in bed to dinners they did not cook. Flowers will be plentiful and children will do something extra special to show their moms how much they are loved and appreciated.
That my son Jacob will open his eyes on Mother’s Day, nearly 10 years after he was given the death sentence that is Canavan Disease, is my gift. But it’s not one I’ll have time to unwrap. For mothers like me with children suffering from severe disabilities, Sunday will be like every other day. We awake to the task — both a blessing and a curse — of caring for children who so desperately need us. Yes, Mother’s Day may also be a time to reflect or wonder what life would have been if our children were healthy or in my case, not born, but even these thoughts quickly dissipate as we settle into our “daily routine.”
Canavan is a fatal genetic neurological illness, prevalent in but not limited to Jewish children, that prevents the normal growth of white matter (myelin) in the brain. Without white matter, impulses from the brain cannot be transmitted. As a result, Canavan children cannot sit, crawl, walk or say a single word. They eventually lose their ability to see, swallow or vocalize. They also develop seizures and become increasingly lost to the world around them. Death usually occurs within the first decade of life.
When I was pregnant with Jacob, I was 25 and healthy. I had requested an amniocentesis, though my ob-gyn did not see the need. I told him the technology was available and I wanted to know everything about the pregnancy. He sent me to see a geneticist, who failed to test me for the Canavan gene. At the time, Tay-Sachs, cystic fibrosis, Niemann Pick and Gaucher were considered standard testing by the American Academy of Obstetricians and Gynecologists for people of Ashkenazi Jewish descent. Canavan testing was available at several sites, but was not considered standard.
Almost halfway through my pregnancy, I developed low amniotic fluid — often an indicator of a genetic abnormality — and was put on bed rest. I immediately called the geneticist because I was convinced she had forgotten to test me for something. She confidently told me, “no.” Without being tested for Canavan, the amnio could not detect the mutated gene Jacob’s father and I both carried and passed on to him.
Since Jacob’s diagnosis, I have fought tirelessly to keep him alive. I founded a nonprofit organization, Jacob’s Cure, to support and expedite research, raise prenatal testing awareness and lobby to increase federal funding for Canavan disease. Currently, our fundraising efforts and research is focused on a stem cell treatment we hope will cure Jacob and perhaps reverse the effects of the disease.
Already, Jacob has been the recipient of two experimental gene-therapy procedures and pharmaceutical interventions that have stopped the progression of the disease. Proudly, he attends elementary school in a mainstream second grade and in February celebrated his 10th birthday with his classmates. But, while the progress has been staggering, Jacob remains 100 percent dependent and trapped in his body.
So, whether it is Mother’s Day or any other day, Jacob’s daily needs swallow me whole. He requires more than 20 syringes of medications to be made every day and given to him throughout the day and night. He needs to be stretched morning, noon and night; changed; diapered; washed and have his teeth brushed. He is fed by feeding tube or by mouth with a pureed meal and thickened juice. He wears braces to keep his feet from turning inward or outward, and braces to keep his knees from bending when standing. He needs to be carried into and out of his custom wheelchair or stander — he must stand for at least an hour a day for weight bearing to prevent his hips from dislocating (three hip surgeries later).
He cannot sit in one place too long because pressure can cause the skin on his rear to break down. He is driven everywhere (school, therapy and doctor appointments each week) in a modified van. He has various at-home therapies and massages to supplement what he gets at school. His eyes must be lubricated at night so they do not dry out and affect his vision. His feeding tube is cleaned every night to prevent infection. His gums must be washed with a solution to prevent inflammation while being suctioned to prevent swallowing. He must be given showers just about every night, and medication by nebulizer to keep his respiratory paths clear. Positioning him is constant to assist him in managing his own drool and to avoid choking. Lotion is applied before bed to keep his skin safe from breakdown, and constant turning is necessary during the night to prevent bedsores.
These are just some of Jacob’s daily needs when he is healthy, and I will leave out the endless days and nights I put into raising money to fund research to save him and the managing I must put into his schooling, medical care and nursing care (of which there are not enough nurses to help us care for him).
I am often asked what I would have done if I had been tested for Canavan. The answer is always the same. I love Jacob too much to have chosen to put him through what he has had to endure. And while he continues to beat the odds as I fight to find a cure, he is very disabled and requires constant care.
At the same time, Jacob is a gift of pure love. I feel lucky to be his mom, even if there is not a day that goes by that I do not wish he were healthy. And I feel the terror of a life without him.
Somehow I have come to the conclusion that Mother’s Day and other similar holidays are there to remind us to appreciate, love and respect what is important in the world. For mothers of special-needs children, every day is filled with perspective and a love so deep that it is simply breathtaking. We honor what is important and care for our children with dignity and pride. It’s what mothers do. n
Jordana Holovach is a resident of Harrison, N.Y., and founder of Jacob’s Cure (jacobscure.org).