“Blessed to Have Her Here” -Sarah

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

28Aug 2016

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So this is my second post about Ella, who is 7 in a few weeks’ time! It’s scary how quickly they grow. In my last post I tried to keep to the point and just give you Ella’s background and how far she’s come. I thought this time I would say a bit about us and our relationship- how we manage day to day activities.

I remember when Ella was first diagnosed. The most difficult bit, I think, was the not knowing- what are we dealing with? What do we expect? And as you ask the question as many times as you can think of different ways of saying it – the answer is always the same: “We’re not sure, but time will tell!” This is what parents are told, as probably all CCDS parents have experienced!14114527_851486564986090_798315164_o (1)

What also was difficult was having a child that was growing but that cognitively was staying the same – that was tough. She didn’t mind – she was quite happy to carry on playing on her rocking horse or chewing soft toys, I found that difficult to understand how to fulfill her needs, she wants to play with baby toys still but is that helping her to develop? Versus I want to encourage her to use more grown up toys – but she didn’t want to or didn’t understand the concept. Ultimately, I decided that actually all that matters is that she’s happy and enjoying herself so we tried child led play.

Now, my baby is no longer my baby! She’s my grown up girl who is obsessed with Barbie and bracelet charms and princesses!! Though, luckily she still has a sporty side! Her engagement with pretend play games amazes me, her attention to detail from conversations she’s recalled and how inclusive she is with all her toys and most importantly, her imagination! I struggle to keep up with the story line, but it’s usually around getting ice cream, going to see the doctor, and then going diving or to the park! The magic of being able to listen to her having back and forth conversations, with voice changes included, makes my heart melt every single time. I guess that over time, I’ve come to realise- what does it matter? How she is or where she will get to? 3 years ago for her to focus on my eyes for more than just a passing glance would have been a miracle, now she talks for Britain and is 100% understanding and engaged in all conversations directly with her or ones she overhears!

14075206_851485164986230_1662237053_o (1)For her to be where she is, leaves no doubt in my mind that she will continue to progress. But if she was to plateau, that would be ok too, because I know we’ve already been blessed to have her here anyway. What’s the point in trying to second guess the future? I, like many parents here, have lost countless nights worrying about the future for Ella, worrying about things that I have no control over! Right in the here and now, I am so lucky to be able to witness her grow and develop and change from a child into a little girl with opinions and expectations- of me and of life! The only hope that I have is that I can meet those expectations for her, because she deserves the world!

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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.