“Those Who ‘Get It'” -Janet

16Dec 2021

Creatine Decoded: ACD-Funded CTD Drug Repurposing Fellowships Make Progress in Year One

Patient Samples from Coriell Biobank in Studies Seeking to Understand CTD Mutations & Explore Existing FDA-Approved Drugs as Potential Treatments

#CreatineDecoded is a quarterly educational essay series that sheds light on research relevant for Cerebral Creatine Deficiency Syndromes (CCDS). The essays and interviews feature community contributors, often parents, who with the help of the ACD, explore in their own words the CCDS science you want to know more about.

Have a topic in mind? Send suggestions to Laura Trutoiu, ACD Director of Research [email protected] Continue reading

29Nov 2021

By way of background, I am new to the CCDS community. Our 8-year-old son was diagnosed with CTD on 1 April 2021. Yes, April Fools Day, almost appropriate given the various false starts we had on the diagnosis path.

Up until that day in April, plenty of letters had been thrown our way – GDD, SPD, ID, ASD. But for me nothing really explained what was happening to our little man. It is easy to look back with hindsight and see the times we were dismissed by doctors, despite the red flags. We were close several times to maybe heading down the right path, but a doctor didn’t want to see us as a patient (our urine sample was elevated but not out of the realm of normal) or I was told we should just wait and see how he develops (only to also be told the early years are the most important for intervention, sigh). Continue reading

23Nov 2021

Hello again, CCDS family, sorry it has been a while since I have contributed to the blog, but I am thankful to have the chance to be talking to you again. As this is Epilepsy Awareness Month, I wanted to share some of my thoughts, feeling, and, most importantly, the lessons I am learning along the way. I tried to keep this blog post short but that didn’t work. I also tried to keep it honest, so I did not hold back. Continue reading

27Oct 2021

I think most parents of children with Creatine Transporter Deficiency (CTD), like me, are painfully aware of the statement, “CTD is not treatable.” The day of my son Cadman’s diagnosis (he’s now 6, and was diagnosed just before his second birthday through whole exome genetic testing), there was a slight sense of relief that we finally had an answer and our diagnostic journey had come to an end, but devastation to find out that there is no treatment available for his disorder. Continue reading

05Oct 2021

“Bye mom!” These were words I had longed to hear for nearly two years. Our youngest son, Sam, graduated high school in June of 2019. In October of 2019, we sold our home of 20 years in the suburbs and bought a 9-acre farm in the country. It was another step toward providing our nonprofit, Good Works Farm, a space to provide farm-based programming for individuals with special needs, like Sam. Continue reading

30Sep 2021

Creatine Decoded: The power of patient registries and patient-led research initiatives – How CCDS Families and Caregivers Can Drive Research

#CreatineDecoded is a quarterly educational essay series that sheds light on research relevant for Cerebral Creatine Deficiency Syndromes (CCDS). The essays and interviews feature community contributors, often parents, who with the help of the ACD, explore in their own words the CCDS science you want to know more about.

This interview is brought to you by Kirsten Wiebe, Science Writer at the University of British Columbia, Dr. Sylvia Stockler, MD, University of British Columbia, and Sofia Balog, ACD Patient Registry Coordinator.

Have a topic in mind? Send suggestions to Laura Trutoiu, ACD Director of Research [email protected] Continue reading

21Sep 2021

Being a parent of a child with a rare disease has its unique challenges. There are so many questions that you ask yourself on a daily basis.

Why does my child have this condition?
Why is he not developing like other kids?
Why are there no treatments available?
Why can’t I do more to help him?

These questions change all the time, but the really frustrating part is that the answers do as well. Continue reading

09Jul 2021

The bell rang, the music started, and we began moving slowly. The expression on his face changed almost immediately, and in that moment, I knew I had made a huge mistake. His horse’s face was frozen in a contorted expression of distress that matched the rider. I hopped off my horse and attempted to calm him, but as he went up and down and round and round faster, his fear only grew. He clung to me with a death grip. I managed to peel the man-child off his horse when at its lowest and sit him in the seat behind him. By then, the operator, realizing there was a problem, had brought the ride to a stop and was standing at the top of the stairs. When he saw that Sam was safely planted on the bench, he gave me a thumbs-up and started the ride again. I climbed on the nearest horse and continued to reassure him from a distance. Continue reading

17Jun 2021

This essay was written by Erin Coller, ACD Director of Communications with support from Sofia Balog, ACD Patient Registry Coordinator and Laura Trutoiu, ACD Director of Research.

#CreatineDecoded is a quarterly educational essay series that sheds light on research relevant for Cerebral Creatine Deficiency Syndromes (CCDS). The essays feature community contributors, often parents, who with the help of the ACD, explore in their own words the CCDS science you want to know more about. Have a topic in mind? Send suggestions to Laura Trutoiu, ACD Director of Research [email protected] Continue reading

09Sep 2016

spiro1

My 7 year old son has CTD and Autism. He was diagnosed with CTD January 2012 and then Autism, September that same year. At 1 year of age his symptoms began to be quite evident. By 2 years old, they were in full swing. At 3 years old, when he received the Autism diagnosis, our lives had been literally turned upside down – shaken – and the contents of our ‘lives’ strewn about in our home, with only my husband and I to pick up the pieces and “carry on” with things. In 2011, (pre-diagnosis) Spiro was 2 and I took a one year leave from my work to manage his needs. In 2012 I had to return to work part-time. Obviously our family, friends, and neighbors knew about Spiro’s diagnosis. But there is ‘knowing’ about a diagnosis and then really knowing. A few years ago I met a special needs mama, and she politely termed it, “those who get it”. And I don’t think anyone can get it unless they live it. Does our family that we see on weekends get it? No, I don’t think so. Do our friends? No. Do neighbors? No.
I don’t think seeing me out and about with my kiddos in the community, on our walk to school, or at an afternoon get-together gives an accurate picture of the effort that is our lives. The stress and daily emotional roller-coaster ride of having a child with CTD and Autism can be tremendous. Which brings me to this week’s topic: ‘those who get it’.
I’m not sure how this one moment in time popped into my head, but I believe that it was the summer of 2013. Spiro was almost 4. Spiro’s Autism symptoms and therapy schedule were in high gear. I worked every other day in order to facilitate Spiro’s therapy. I’ll always remember this one day in particular. It may originally have been with contempt, but now I try to use it to help my heart.spiro2
It’s a weekday, my husband has a day off and we have all the kiddos. As I recall, it was a beautiful sunny day, and I suggested that he take Spiro to therapy so I could take the other kids to the park for the morning. This park was across the road from our house. We hardly ever get across the road to that park. But on this day, I pack up my 2 typical kids, and off we go. When we get there, one of my neighbors is there as well with her 2 kiddos. The kids are playing, and I begin a casual conversation. As we are talking, my neighbor says, “I’m surprised to see you- I didn’t think you were a park person”. Hmmm…. ‘I didn’t think you were a park person???’ Now right here, is a perfect example of not getting it. Knowing that someone could be in such oblivion to the weight of my responsibilities to my child was hard to hear.
Now this could very easily turn into a bitter outpouring on why in 2013 my life was literally not a walk in the park. On how my son could hardly tolerate a trip to the park. That going to the park absolutely exhausted him. That he couldn’t handle the heat. That it is extremely difficult for me to keep him safe at a park. That my son has sensory issues and sand is his kryptonite. That it’s so hard to labour through a park visit to only endure the meltdown when we get home. Not to mention the fact that we are almost always at therapy, so our attendance at the park is not on our to do list.
spiro3But I’m not going to end the post like that. Sharing this shows that wherever you go in life, you are going to encounter those who don’t get it. They will say whatever is on their mind, and to them it’s just another sentence. And sometimes hearing that sentence uttered, or even the vague feeling you get around people, is just like sticking a dagger in your heart. And that dagger will remind you of all the reasons you aren’t that carefree park person.
So to end this, I want to say that as special needs parents, it’s not always our job to explain the weight and responsibility of our children to the world. It wasn’t on that bright sunny day at the park. It may never fit into casual conversation. But the comments of those who don’t ‘get it’ will one day find their way into your circumstances. And when that happens, I want to remind all of you, that instead of getting angry and bitter, we need to make sure we put on our armor so to speak. Those comments may happen, and if they do, take that deep breath, perhaps look at your special child, and protect your precious heart.

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Disclaimer: All thoughts and ideas expressed in the Creatine Community Blog represent the individual blog contributor's opinions and not those of the Association for Creatine Deficiencies. The ideas expressed in the Creatine Community Blog, and any other locations on the creatineinfo.org website, should never be construed as medical advice, even if the information relates to actual health care experiences of the contributor. Individuals should always follow the instructions of their physician and make no changes to their care unless instructed to do so by their physician.