Diagnosis – Sweet Iris

In the featured image of this post, we look like a happy family. This picture does not show even a hint of the deep grief we were experiencing. The only visual indication of Iris’ condition in the image are the ankle foot orthotics.

It’s now been nearly two years since diagnosis. I’ll never forget the day. My husband turned forty and his job essentially dissolved the same week. When it rains, it pours.

It was an awful birthday and one we will never forget.

In a way, it was convenient. Some of the decisions on how to move forward were made for us. Both parents working full-time was no longer a possibility. The struggle of managing time away from work for all the various therapies and doctors appointments came to an end.

Before diagnosis, we thought our daughter was just a bit clumsy. We thought that she had a benign speech issue. We thought physical and speech therapy would suffice. At first, that’s what the doctors said. Following diagnosis, we faced the grim reality of a rare, chronic, incurable, terminal illness called GM1 Gangliosidosis.

The kicker: the cause is genetics. Much to our chagrin, Darwin and nature’s game of roulette had their way. The faulty genes lurked within us, her loving parents. The genes were recessive, hidden, and dangerous. Illogically, we had an awkward feeling that as carriers, we could or should have known despite no family history of this condition.

I allowed myself to cry as I commuted alone in the car. My husband and I were most comfortable in the presence of our children, where the sole focus was on their immediate needs. The darkest times were those moments of solitude, usually in the evening. Bedtime stories were over. The children were asleep, yet I lay awake.

My mind wandered beyond the present moment. I made the error of permitting myself to imagine an alternate reality.

Two years later, simply put, I don’t go there. Where, you ask? I don’t go to that imagined and nonexistent place without GM1 Gangliosidosis. I don’t believe I am responsible for the course of events that led me and my husband to carry the disease-causing GLB1 gene.

Time, acceptance, and even a degree of healing dulls the pain. We cherish the time we do have. We accept our lives and the entire spectrum of experiences involved. We cherish and love our daughter for who she is . We try not to ask “what if?” We don’t imagine whom she might have been without this rare disease The grief ebbs and flows, punctuated by “normal” milestones and or regression.

There are many, many hardships in life. It’s really not productive to compare our lives to others’ lives. We may not be able to control all the events in our lives, but we can control our responses. We can choose to advocate. We can choose hope and resilience.

GM1 Gangliosidosis and grief will not consume us, although it is an utterly horrible condition. Simple pleasures abound: a smile, a walk hand in hand to the store, a family outing. There is still much to appreciate. There is much to enjoy today.

Today, I still kiss my daughter’s head, hold her hand and cuddle with her. I will continue to have that immense privilege for a time that is not predetermined. No one really knows what the future holds. Real life does not have a script.

Without contrast and without hardship, we would not truly understand or appreciate joy.

The author of this post Christine Waggoner founded the Cure GM1 Foundation in April 2015 in honor of her daughter Iris and all the children who suffer from GM1 Gangliosidosis.

To make a donation to support GM1 medical research, please see: www.curegm1.org and www.sweetiris.org for more information.

A neurologist, a tall man with sandy brown hair and sympathetic eyes, whom I had just met for the first time, patted my arm reassuringly. Unable to control my grief, I sat with tears streaming down my face, choking out the details of our diagnostic odyssey. While listening to Iris’ medical history, the neurologist sat with his head against the wall, seated on the examination table, listening attentively and silently.

The details of the prior misdiagnoses seemed to weigh heavily on the doctor. He sunk further into the wall. He took long blinks. We were told, the misdiagnoses we had received were all too common. A year before, we had been told by another neurologist that nothing was wrong and testing was not merited. We had been told by a developmental pediatrician that Iris had mild athetoid cerebral palsy.

A geneticist was also present throughout the appointment. Ironically, I can hardly remember our interactions with him. His colorful tie and the distinct level of respect from his colleagues come to mind. He promised to connect us with the best GM1 specialists in the country. A genetics counselor was also present who listened attentively. When the doctors left for their next appointment, naturally, the counselor stayed and counseled me in a soft gentle voice. I have nearly no recollection of what we discussed. I think I mumbled to her that would likely have to get a new house because our current house is not handicap accessible.

Finally, a social worker entered the small examination room and introduced herself to me. My mind was racing. My hands clenched a crumpled piece of paper with my questions for the doctors on it. Somehow those questions on the paper seemed so inconsequential. I felt small for telling the doctors I wanted to do whatever they would do for their own children. It felt as though they had heard the same comment from every other concerned parent of a child with a horrible diagnosis. Every parent wants the best possible care for their children.

Our previous neurologist, a kind, gentle woman with a small private practice had referred us to this large clinic at an esteemed university. The new neurologist and geneticist at this large clinic were to be responsible for the confirmation of Iris’ diagnosis. For a “big time” disease such as GM1 Gangliosidosis, we were told our health insurance demanded a confirmation from another doctor.

We had been given the devastating diagnosis just the day before in the female neurologist’s office. My husband called me from that appointment while I was at work. He told me that he might not even be able to drive the car home because he was having difficultly breathing. For me, the news had not sunk in. I ran through the mental gymnastics of how I would get to the doctor’s office and not have to leave a car behind. I did not even attend that particular appointment. We thought it would be just another appointment, the same as all the others.

At the appointment before the diagnosis, we had been told not to be overly concerned. We were told that the chances of a very serious diagnosis were extremely low. Despite our utter disbelief and total dismay, our sweet girl just happened to be that incredibly rare, rare case.

Category: Diagnosis

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