Decisions—Growing Pains Update

When I wrote about recent Growing Pains with our daughter so many of you jumped in to offer support, compassion and some kick ass advice. We all know it takes a village to raise a child, but it takes that same village to support a family who’s spinning in circles, not knowing what to do. Thank you village. Sincerely.

We’ve stopped spinning. For now at least.

We met with a wonderful pediatric endocrinologist yesterday at Sick Kids. I can’t say often enough how lucky we are to live just a short drive away from this world class children’s hospital.

With the support of a wonderful doctor and her team, we have decided to put off Avery’s impending human growth hormone treatment for at least six months. Pheeeeeee-ew.

We learned the injections are nothing to fear. After the learning curve, they will become just another part of our daily routine. I can live with this. It’s the fear of the C word that has temporarily stopped us in our tracks.

Avery’s pituitary does not produce enough HGH. The answer to why is hidden somewhere deep within her unique genetic make-up. But also lurking there in the shadows are other unthinkable possibilities.

In this modern medical age we have a fairly comprehensive, albeit rudimentary, picture of Avery’s DNA which includes the names and (some) functions of missing and duplicated genes. As well, we have snippets of information about diseases that may potentially crop up.

Will these diseases occur? Maybe yes. Maybe no. God, hopefully no. According solely to her genetic profile, Avery by all accounts should be showing signs of Limb Girdle Muscular Distrophy. She is not. Because we know that the gene responsible for this disease is one of damaged genes in Avery’s DNA, we spent months worrying about the onset of this devastating disease that has never actually and thankfully, come to be. The neurologist says if there aren’t yet signs of this disease now, there never will be. And…exhale…

The world of genetics is a wild and unpredictable place. So many factors combine to make us who we are. Though our child has a faulty chromosome 3, she also has a fully intact copy. That, along with her unique personality, environment and all of her other genes, including one damaged copy of chromosome 9, make Avery completely unique—all of these factors interplay to create the unexpected.

Recent research involving chromosome 9 suggests that one of the duplicated genes in Avery’s damaged section of C9 is responsible for a form of leukemia. Will this disease manifest itself in Avery’s lifetime? We certainly hope not, but nobody can say for sure.

Human growth hormone does not cause cancer. It is a very safe form of hormone therapy. But when a cancer is present, the introduction of HGH can trigger its onset and accelerate cancer growth.

It’s a risk—small, but one we’re not ready to take right now.

Avery’s height, if her DNA was “normal” was predicted to have been in the area of 5’9. Yes, she was destined to be a statuesque Thornbury woman. Without HGH treatment she will likely reach a height just shy of 5ft. But, with treatment doctors predict (it’s kind of a crap shoot to be honest) she will reach a height somewhere around 5’2ish—thus making adult life somewhat easier in terms of clothing, driving a car, riding the big roller coasters. All the really important things. 😉

There are just too many unknowns and more research to do before we can confidently proceed with any treatment. Thankfully, we have lots of time before the onset of puberty begins to fuse growth plates and the window of growth opportunity closes.

We’re going to ask more questions, weigh the pros and cons, and most importantly, take this reprieve to enjoy every inch of our little girl without worrying about the what ifs because…

….life is short. And so is Avery. 🙂 But short is also sweet and beautiful and healthy and perfection.

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