“Seasons” -Nathan

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 auract@creatineinfo.org. 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 auract@creatineinfo.org. 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 auract@creatineinfo.org Continue reading

07Sep 2016

Family Picture

Well friends, the end of summer is again upon us.  Children are heading back to school and hopefully, soon the cool air of fall will again give us respite from the stifling summer heat. In our family, three of our boys are returning to their studies after a few short months of summer vacation. 

This return to school is an exciting time for us, as we welcome new experiences and try to begin the process of planning for the fall and winter to come.  Aside from school starting, we have had a few other things going on since I last posted.  The hub and mainstay of our family, I call her my wife, had to undergo a medical procedure that has pretty much removed her ability to lift or bend for the last four weeks and a few more to come.  At the same time, I have had the opportunity to participate in a full-time education program, which I have been putting off for several years.  Oh, and while all this was going on, we still have had the usual mix of staffing changes, appointments, and everyday fevers and illnesses.Waiting in Stroller

I bring all this up to say that our usually calm late summer and early fall season has turned into something more reflective of chaos than the Pumpkin Spice Latte filled serenity(ish) world we expected, and that is ok.  I think as an individual and as a family we are learning to accept that these seasons will come and go, especially if you read my post from a few months ago. Despite this idea of becoming more comfortable as time goes on, I still notice that I keep getting asked “how we do it” by just about everyone who has heard about our unique blessings. I still have not really responded with the answer that is in my heart as first and foremost I know that this question usually comes out of true compassion. If I were to give some interested new friend my honest response it would be, “how could we not do it?”.  If there was a way to avoid all the craziness I have not found it, nor have I really had the time or felt the desire to look.  

My family, just like yours I am sure, has seasons in it that vary as widely as the weather in (insert your area) does. Although we try to prepare for the seasons that we know are coming, to prevent panicking over the equivalent of a predictable snowfall in January, we realize that CTD has created unique aspects in our lives that require us to be ready to make the best out of an unexpected snowfall on the fourth of July as well! After all, I think that the best way to be prepared for the upcoming changes is to accept that those changes will happen, usually when we least expect them.

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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.