“Whoa” -Janet

08Aug 2022

When I volunteered for the PaReNts project back in April, I really wanted to be able to attend the ACD Conference. But at that stage, our family had not yet had COVID and my son with Creatine Transporter Deficiency (CTD) was not yet fully vaccinated. Australia was only just opening its borders to the rest of the world and travel was challenging. We didn’t think getting to the conference was a viable option. I decided I still wanted to volunteer even if I was not chosen and was extremely pleased to be included.  Continue reading

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

02Sep 2017

Spiro holding his lunch bag in the kitchen

Do you ever have those days or seasons where things are just ‘alot’? I know my family goes through those days. They are hard moments… they seem consecutively laid and they are heavy. Alot of people I know have kids. I don’t walk a day in their shoes, nor do they in mine. But over the years I have come across those folks who complain about… well… in my opinion what would not even qualify as a bad day in my house.

I have 4 little ones, and my 7 year old has CTD and Autism. We have alot of ‘whoa’ moments in our home. Moments where a seemingly insignificant task becomes the battle of all time. And its in those moments, that I really absorb that a typical family never has to deal with this, and really, we are existing on different planets.

I have felt this divide for so long. So much so, that I have a hard time making casual small talk. You know… just carefree happy laughy chit chat with people. I find sometimes that my days and stress with dealing with Spiro are so heavy that even talking with someone is difficult. If you’re not a special needs parent you’re not going to understand… those heavy days… That great divide is often unseen by others. And because it is unseen, how do you get people to understand? You just can’t unload and rain on people’s cheery day to vent the life of Autism and CTD.

So I try and smile and keep my mouth shut. I try and smile and chit chat, although it feels like nails on a chalkboard. It feels like tension. I just keep plugging along… nodding at the traumatic story of potty training your 2 year old when my almost 8 year old wears diapers… agreeing with the stress of having your 4 year old complain that he didn’t want to eat his nuggets when I have to spoon feed my son his meals 80% of the time… Or nodding as you complain that your child cried when you said ‘No’ at a store to a toy, where I could not even get my child in or out of the store/car/house because of transition issues.

The list could go on and on and on… I have my hands full of kids and their issues. Am I the perfect parent? Absolutely not!!! But I’m doing my best, and if you know a special needs parent, hey, give them a call, bring them a supper, fold a load of laundry, take a typical kid for an hour, bring them a coffee, give them a hug, an ear to listen or a shoulder to cry on…

But don’t, under any circumstances complain about your kid’s runny nose. Because if you do… I’ll be sure that you don’t leave until you’ve changed my 7 year old’s diaper and dosed and administered his 17 doses of meds a day… Just saying…

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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.