04Apr 2017
“Why Us?!” – Laura
Sometimes it feels like everything just piles up – from the challenges of being diagnosed, seizures, hospital stays, to the complications we encounter every day. Continue reading
25Mar 2017
“An update – 4 months on from the GAMT deficiency bombshell” – Kelly
If someone told me at the beginning of last November, just how much our lives were going to change in a very short space of time, I would have laughed in their faces. Or cried. I’m not quite sure which – but I certainly wouldn’t have believed them. Continue reading
23Feb 2017
“1% Chance” – Laura
GAMT is so rare, just getting diagnosed seems to be quite an ordeal. I like hearing everyone else’s journey, and having this connection. Here is our story!
Before Levi was born, I had a nervous feeling; anxiety that something was “off” but at each ultrasound things looked great and he was born a healthy baby in June of 2011. Continue reading
17Feb 2017
“Why Getting a Diagnosis Is So Much More Than a Label” – Kelly
My daughter Holly (9) & son Isaac (4) have recently been diagnosed with Guanidinoacetate Methyltransferase Deficiency (GAMT). What a label, hey? Certainly sounds more impressive than Global Developmental Delay, Autism, or just plain old Epilepsy that we were ‘gifted’ with before. Continue reading
14Feb 2017
“On Valentine’s Day” – Nathan
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
“My little guy” – Jane
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
“The Three P’s” – Beth
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
“Five Years… Then and Now” – Janet
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
“The Day That Changed My Life” – Whitnie
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” – Laura
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