When a Life-Limiting Condition Makes Birthdays Bittersweet

I’m truly grateful. My sweet daughter is so very fortunate to celebrate her 8th birthday.  Two and a half years ago, we were faced with her diagnosis of GM1 gangliosidosis, a rare degenerative neurological disease. There is no treatment or cure. Her life will be cut short without incredible medical advances. Yet, here we are. Another birthday. Another entire year. We are so grateful for every moment. We adore her smile, her hugs and her love.

Not a single doctor can tell us with any confidence how many birthdays she will celebrate. One specialist guessed a life expectancy into her teens or perhaps even into her 20s. We can only hope that is the case, but is it quality or quantity that matters most? We are living in the face of a chronic and life-limiting condition without a proven treatment and without answers.

Even those who do not face such a devastating diagnosis do not truly know their own futures. It’s simply more likely that our daughter’s life will be cut short by decades more than the average lifespan. It’s also very likely that her life will involve challenges that the majority of the population typically do not face.

Still, we are hopeful. We have been told a clinical trial may arrive as early as next year. We fought tooth and nail to obtain the only medication which is thought to be possibly beneficial. Through a study, we embarked on a modified diet in an effort to possibly enhance the efficacy of this particular medication.

This special diet deprives our daughter of nearly all sugar. On her birthday, there will be no cupcakes, frosting or sweets. If we do make a “cake,” it will be prepared without the usual ingredients: flour and sugar.

And miraculously, despite the nightmarish diagnosis, she’s 8.

She’s living life.  

There are many nagging questions. Is the medication working? Will our insurance approve the unreasonably expensive medication again? Is the diet helping? Will the clinical trial happen on time? Will she be in the clinical trial? Do we actually want to be in the first clinical trial? When will she stop walking? When will she stop speaking? How many birthdays will she have?

We simply do not know. 

We do know that many children with this condition have a much more severe form of the disease. These children’s lives are measured in months and days, rather than years. Tragically, several children who were diagnosed around the same time as our daughter are no longer with us on this earth.

Given the situation, what does one do? How do we celebrate given that this is a degenerative condition and the clock is always ticking?

We celebrate fiercely because this diagnosis has taught us so much. Birthdays are truly an event to celebrate, yet time is also our enemy.

Today, in honor of our sweet girl and all the children who have this horrible condition, find something to celebrate. It might be something small. Savor the first, middle and last sip of your morning coffee. Take a deep breath of fresh air as you open your door. Commit an act of kindness.

Live and love fiercely, because one never knows how many birthdays remain.

Author’s note: 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 diagnosed with GM1 gangliosidosis. To make a donation to support GM1 medical research, please visit www.curegm1.org and www.sweetiris.org for more information. To follow Iris’s story on Facebook, click here.