Duchenne Muscular Dystrophy (DMD) is an x-linked recessive disease. Mothers are the carriers. That means it can be found in boys that are related by female relatives – brothers, uncles, cousins. But because it is recessive not all boys that are related will have the genetic code for DMD. Sometimes it skips a child or a generation.
Sometime it’s a completely random mutation.
This is the case of Mr. Sensitive.
My son has DMD. We do not know about his brother. The diagnosis of DMD in my son did not have us rush for prenatal testing for his brother. We knew when I was pregnant that having a second child with DMD was a possibility. We just didn’t care.
When the Chief of Genetics explained the genetic ‘blip’ that causes Mr. Sensitive’s DMD she emphasised that if we choose to have another child we would be offered prenatal testing, and then went on to explain the process of artificial insemination, if we so choose. The doctor drew six circles and put dots in three of them. I leaned forward, excited about six babies, even if they were just circles.
Envisioning myself a Canadian ‘Octomom,’ I was thrilled to have the large family I’ve always dreamed of, at least on paper. The doctor then drew x’s across the circles with dots, saying that those embryos with the genetic mutation would be culled. Killed. I shrank away horrified. I glanced down at my son, then age three, playing on the floor.
I cannot imagine life without him. But, I know that if I did not have this experience with him I might choose the ‘healthy’ embryo. I would never know what I would miss, and am devastated by that thought. I cannot believe that I could make the mistake of selecting ‘health’ over love, life and happiness. But I know I would have, because I did not know any better.
I am a firm believer in Science. I hold a Science degree from a major University. Hubby keeps hoping I will go to medical school. I see the world in terms of percentiles and stanines. But there is so much more. I am glad that Science did not influence my decision at all.
As I sat frozen in the doctor’s office, a quote floated through my head, “Guns in the hands of babes.” My mind was made up. We would not do it. We refused the repeated offers of genetic testing all throughout my third pregnancy. We refused to find out our baby’s gender.
My family doctor was beside himself. Ironically he is a devout Christian from Egypt while Hubby and I are decidedly non-religious. We reminded our doctor of what he once told us, “It’s in God’s hands.” He stopped offering genetic testing after that.
Both Hubby and I are very aware of the trajectory of DMD. The child shows initial gross and fine motor delays, and slowly progresses. Physical ability peaks at around ages 6-8 years, then gradually declines as muscle cells are replaced with fat cells. The child is in a wheelchair fulltime by age 12.
But they are a child. Not a disease.
Only in very recent years has life expectancy exceeded late teens. People who have DMD can now hope to live to age 30, with significant medical care and good luck. Ventilators. Steel rods in spine to correct scoliosis. Possibly losing the ability to chew or swallow. Steroids to preserve muscle function for as long as possible. Nursing care. Hoyer lifts. Hospital Beds. Toileting and bathing care. Accessible vans. Ramps and elevators.
We would rather this not happen to our son, but Hubby and I are aware of this path; both of us have worked in this area before. Hubby is somewhat of an expert using a Hoyer lift to help transfer someone from their wheelchair to bed or the shower. Both Hubby and I have got large electric wheelchairs stuck in the mud while the person driving it tries to extract themselves. We both know that the stuff surrounding a person in a wheelchair is stuff, it is not the person.
We know there is so much more to life than what is visible on the outside or what a person can or cannot do. Relationships with friends and family. Enjoyment of beauty, appreciating spirituality or the sublime.
A person in a wheelchair can laugh, cry, or be awed by a sunset just as well as an able-bodied person can. They are a person, first, and capable of all thoughts and feelings people have. I’m not sure the medical profession realises this.
For more articles about Duchenne Muscular Dystrophy in this blog: