ACD

14Feb 2017

Nathan and his family sitting on a couch

Well, it’s here friends, February 14th , and according to the automatic reminder on my phone, that means it is time to stop at the store and give Hallmark their due for the year.  Now I am not saying that I am not romantic, but I am a guy, so romantic is a relative term.  So, what does cupid, romance, and Hallmark have to do with a life full of craziness and creatinies?  Well, as it turns out, not as much as one would hope but more than I could have ever imagined.  Hopefully this makes sense to those of you adventurous enough to follow along with my regular postings.  Basically, I would like to take a few minutes to talk about the relationship that I have with my Valentine of almost sixteen years, and how that relationship was not just shaped, but defined, by an alteration of one tiny little piece of genetic material. Continue reading

07Feb 2017

James and Charlotte as babies

My little guy is now 8 years old and was diagnosed with Creatine Transporter Deficiency (CTD) at 19 months of age – well before we were emotionally prepared to deal with the implications of such a diagnosis.  “Will he need extra help in math class or will he not be in a math class?” was a question my pragmatic engineer husband asked the metabolic geneticist who delivered the news.  James has changed us in so many ways. Continue reading

02Feb 2017

Family Picture outside under a tree

My husband likes tattoos.  Really likes them.  I do not have one spot of ink on my body.  An indecisive person like myself is not a good candidate for tattoos.  It’s a struggle for me to decide on where to eat out, so choosing an everlasting piece of art to adorn my body is not a good idea.  My husband loves the process of creating the designs with the help of his talented “tattoo guy,” as I call him.  My husband takes bits from his daily life—lessons, reminders, badges of hard won physical and emotional battles, and likes to have them as permanent art on his body.  He’s thoughtful about what he wants to say and I love the ink masterpieces that unfold.  It’s hard to choose my favorite design, but one that resonates is “The Three P’s.”  Peace.  Patience.  Perspective. Continue reading

27Jan 2017

Spiro eating lunch at school

When my son Spiro was first diagnosed with CTD, I thought it would mean better management, a quick fix, and a real turn around for my son’s symptoms. We were being seen by Canada’s leading children’s hospital. I remember that appointment with the neurologist who initially told me about Spiro’s CTD. I was alone. My husband was working. The doctor initially told me it was a metabolic dysfunction, and that the metabolic clinic would see him very soon and begin treatment. Continue reading

13Jan 2017

Whitnie holding new baby Reid

There are certain days that have a significance in all of our lives. Something that happened on a day that changed the path we took, or influenced our perspective, our choices, or future. For me, that day is today. For the past seven years January 13th has been a day of reflection. This is the day in my history that changed things forever. Continue reading

09Jan 2017

Levi

My name is Levi. I am 5 years old and ALL boy. I love everything life has to offer me. I am an easy going, BUSY, happy, funny, & smart kid. Continue reading

05Jan 2017

Sitting in strollers in waiting room

Happy New Year friends! Have you made your resolutions yet? To be honest I don’t do resolutions, I plan for contributions. So, with that in mind, the topic for this blog adventure is going to be the gifts that are given to others. To be more specific, I want to talk about the contributions that our “Creatinies” make to the world in which we live. I have been asked more than once what I think our three awesome boys will grow up to be, and my answer is, and will always be, “Grow up to be?” Continue reading

28Dec 2016

I thought this post I would write about some of the things I guess us parents all go through, at some point or other.
It feels like Ella makes such huge leaps forward every day – new words, new emotions, new actions. We can forget the horrors that we have been through and focus on the positives, because that’s the only way to move forward.
But at some point, life can serve you a stark reminder that it’s not always ups – we have to learn to take and deal with the downs too. Continue reading

13Dec 2016

Group of Supporters

I broke my arm about two months ago. I’m 41 and I tried to ride a skateboard. It didn’t work out. It seemed like a much better idea in my head. While I counted myself very lucky—no surgery, no cast, no major damage to joints or ligaments—the broken humerus left me in an immobilizer for six weeks. Six weeks of one-armed activity. One-armed getting dressed, one-armed doing my hair (which proved to be the most difficult, if not impossible, activity), one-armed cooking, one-armed mothering. I wasn’t even able to drive for the first week of my injury. In my house, I need all hands—and arms—on deck to make things run. Continue reading

08Dec 2016

When they say Paris is magical, it’s true.

The ACD was honored to attend the CTD workshop, organized by Dr. Aurore Curie, Dr. Vincent des Portes, and representatives of DeficSience and Xtraordinaire. It’s seldom that a rare disorder can generate enough attention to be included on a conference program, much less, garner the respect and interest from medical experts around the globe to deserve its own dedicated meeting. Continue reading