HOPE: A dangerous thing or the best of things

In The Shawshank Redemption, Ellis Boy “Red” Redding called hope a dangerous thing. “Hope can drive a man insane,” he said. “It has no place on the inside.”

Andy Dufresne saw it differently. “Hope is a good thing, maybe the best of things, and no good thing ever dies.”

awards-ceremony

Playing table hockey at Santi’s awards celebration.

When we found out Adriana has spinal muscular atrophy (SMA) Type 2, our world was devoid of hope. For a time, all we knew was despair.

“Life limiting.”

“Wheelchair.”

“Degenerative condition.”

“She’ll most likely never walk.”

These are the things we heard. The words that consumed us.

For a time.

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Questioning the past? It’s not worth the effort.

My mom is a breast cancer survivor. She’ll be coming up on nearly 20 years since she was diagnosed and treated.

On her latest checkup, her doctor asked if she would be willing to participate in a cancer research study on how genetics play a role in the disease.

Doctors asked my wife, Gaby, to do the same thing during her breast cancer treatment.

IMG_1109Same with our daughter. We’re starting to get asked to participate in research studies about Adriana and the disease she lives with, spinal muscular atrophy (SMA).

All in an attempt to gather as much information as possible to better understand a disease, how to diagnose it, how to treat it, how to live with it, what to expect from it, and so on.

For my mom’s study, they’ve asked her to gather a bunch of information on her family.

Makes sense for a genetic study.

They want to know how much my siblings and I weighed, for example, at birth. My mom has been calling sisters, cousins and other family members for information.

My mom hates to bother, but everyone loves helping out……and catching up.

The genetic study got me thinking about Adri’s SMA and the fact that Gaby and I are carriers.

I vaguely remember doctors suggesting we inform our family about the disease, should anyone in the family want to be tested.

I honestly hadn’t thought about it much, but now realize I should talk to my siblings (and other family members) and make sure they understand the disease and its genetic nature.

They can then inform their families, if they choose to.

They can decide.

I then went back to the day the doctors told us about Adri.

santi_soccerAmidst the anger, sorrow, confusion…….the fog…….we managed to ask about our son, Santiago, who was three years old at the time.

We asked if he should be tested to see if he is a carrier or, God forbid, he has the disease and wasn’t presenting symptoms yet.

Adri’s neurologist, Dr. Parsons, encouraged us to bring him in to be checked out. After telling her a little about Santi, she was pretty certain that he didn’t have the disease.

After a while…….after some of the fog of Adri’s diagnosis lifted, we took Santi in, and Dr. Parsons tested him.

She took him through various tests of strength — had him push against her hand with his head, with his arms, with his legs; had him sit down, then get up quickly; had him run down the hall.

She checked his hands to see if he had the tremors that Adri has. She had him grab small things from her hand to test his motor skills.

She saw no symptoms – no indication that he has the disease.

We then asked that he be given a blood test to see if he is a carrier, and to confirm he doesn’t have SMA.

Doctor Parsons told us that it was hospital policy that unless a patient shows symptoms, they won’t do tests for SMA.

We couldn’t understand this.

We are the parents, our daughter has SMA, we’re both carriers. So, we wanted him tested.

She wouldn’t approve it. She explained to us that once the patient is of legal age, he or she can make their own decision to get tested.

When he’s old enough, Santiago can decide for himself if he wants to know if he’s a carrier, or even if he has the disease. Individuals with Type IV SMA, for example, may not exhibit symptoms until much later in life, if they exhibit them at all.

Dr. Parsons wasn’t rude or cold about the whole situation. She simply explained their policy and her thoughts on the subject.

Part of me understood.

Part of me wanted to tell her to go to hell.

We turned to our children’s pediatrician…..the best pediatrician in the world.

Dr. Robert Froehlke cared for our children as if they were his own. He laughed with us as we shared our experiences, comforted us during sickness and cried with us during Gaby’s cancer and Adri’s SMA diagnosis.

We asked him to approve the SMA test for Santiago. He knew us better than Adri’s neurologist and understood us better.

He never judged us or criticized us. He simply listened, shared any concerns he had and did what he thought was best for us.

Nice qualities to have in a doctor.

Even though he approved the SMA test for Santi, we still haven’t gotten him tested.

Gaby was adamant about getting him tested, but I wasn’t completely on board. She said she couldn’t stand not knowing.

Part of me didn’t want to know if he’s a carrier, and part of me — the one that doesn’t want to tell our neurologist to go to hell — still doesn’t want to know.

So soon after Adri’s diagnosis, I didn’t know if I could live with news that Santi may have the disease but just didn’t exhibit any symptoms yet.

Two years later, he still doesn’t show any signs of the disease. I have faith that he doesn’t.

I have to.

If he’s a carrier, like Gaby and me, then it isn’t critical we know right now.

He can find out when he’s older, if he wants to.

Then, I began to think about my immediate and extended families. Once we reach out to them, how many will want to know if they are carriers?

If they find out they do carry the faulty gene, how will it affect future decisions they make?

Whether to marry or whether to have children.

Will my oldest nephew — now in his early 20s — decide to get tested?

If he decides he wants to get married, will he ask his future spouse to get tested?

If they’re both carriers, will their feelings for each other change?

Will they decide not to get married? Not to have children? Maybe adopt instead?

Too many ifs.

Too many unknowns.

If Gaby and I had a crystal ball 10 years ago when we were getting married, and we saw what our lives would be like now, would we have made different decisions?

Of course, we can’t know the answer.

Nobody knows those answers, and it’s really silly to think about. Couples have many other challenges to face without dwelling on something they can’t change.

But, members of our family may very well face decisions like these, should they decide to get tested as SMA carriers.

I wonder what decisions they’ll make.

Such is life, I guess.

We make decisions based on what we know at the time.

And at the same time, we must decide exactly how much we want to know.

There’s no right or wrong answer…….that’s what makes it hard.