“A Day in the Life” -Amy

18May 2021

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Do you ever feel like all the work we do for our kiddos is not enough? How about feeling lost and deep deep pain when you see your child struggle every day? Lately, this is what has been running through my head. My family and I work so hard to help Caiden be successful with everyday life. Sometimes I feel deep down that it is still not enough. From the time we wake up to the time we go to bed I wonder if he will be okay without me by his side all the time. I feel so much pain for him when he has behavior after behavior after behavior on a daily basis. Recently, he decided that he no longer wants to go to school. I now need help just to get him loaded into the car. To top it all off, every day, like clockwork, we receive texts, phone calls, and emails from his teacher and principal with behavior reports. Getting these is the worst feeling in the world. How do we know if what we are doing is hurting our children or helping them? Continue reading

30Apr 2021

The National Organization for Rare Disorders (NORD) recently hosted a webinar on the “Rare Sibling Experience.” As the mother of two children, one who is diagnosed with Creatine Transporter Deficiency (CTD) and one who is not, this resonated with me and I was very curious to hear from experts on the topic. Questions about how to handle the experience of my daughter as the sibling of a child with a rare disease often swirl around in my head. My son Cadman is 6-years-old and has CTD. My daughter Emma is 3. Because of their young ages, most of my concerns are about the future, how this will affect Emma as she grows up, and wanting to make sure that as their parents, we are communicating in a healthy, constructive way. The webinar covers communication tips for siblings of various ages (very different for a preschooler vs. a teenager!). Continue reading

01Mar 2021

I had just poured myself a cup of coffee and settled in for the 2-hour Ultragenyx Study, feeling I might have something to offer having been in the CTD world for 20 years, when the second question knocked the wind out of me: What is your greatest fear for the future? It happens every time that question is asked of me. It seems that the fear for the future is always lying just beneath the surface like an alligator waiting to strike. I immediately lost my ability to speak and raised my index finger, asking for a moment to gather myself. I’m surprised by my sudden and intense emotional response to that question, and I’m embarrassed. The ladies interviewing me are gracious and give me the time I need. I just met them, but I feel that maybe they have kids, too. Maybe they understand. I take a deep breath and attempt to convey how I feel, how I worry that my son will be mistreated, neglected, or abused without my vigilance.  I worry who is going to wipe his butt when he, a grown man, uses the bathroom. Or who is going to cut his food small enough so he doesn’t choke. Who is going to draw him away from his puzzles or iPad long enough to interact with real people from time to time? I worry he won’t understand where I went when I’m gone and that he’ll think I left him on purpose. I worry he won’t feel loved. Continue reading

20Jan 2021

We are very fortunate in our state to have scholarships for children who qualify for an IEP but don’t attend public schools. This helps with funds for a visiting Intervention Specialist (special ed teacher) as well as home-based therapies. Sonnet’s health crisis has resolved greatly since she was diagnosed and began treatment for GAMT. However, her neurologist and I vividly remember when she was dealing with fifty-plus seizures a day. It isn’t certain if a serious illness could cause another downward spiral, so our family has chosen to largely quarantine during flu season. This was extended and amplified during the pandemic. Continue reading

31Dec 2020

This essay was written by Laura Trutoiu, ACD Director of Research, with support from Erin Coller, ACD Director of Communications, and Sangeetha Iyer, ACD Scientific Advisor. 

#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]

When we got Rohan’s Creatine Transporter Deficiency (CTD) genetic diagnosis mid-2017 he was two and a half and had barely started to walk. Though sweet and loving, Rohan wasn’t using words and wasn’t quite doing what other two year olds do. It was a long road to a diagnosis and finding the genetic cause was a blow and a sigh of relief. I got the call at work and jumped out of an ordinary meeting into a brave new world full of genes and mutations.
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09Dec 2020

It’s 3 AM and I can’t sleep. Again.

I came across videos yesterday of Sam completing tasks for the learning program we were doing for a while (Relationship Development Intervention-RDI), and I was reminded, once again, how little we really engage with him now, how few activities he engages in. It bothers me. Continue reading

28Oct 2020

This essay was written by Celeste Graham, ACD Director of Education, with the support of Sangeetha Iyer, ACD Scientific Advisor. 

#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].

Dr. Jonathan Schlebach, PhD (Indiana University-Bloomington) participated in the ACD’s 2020 Virtual Conference and gave an informative talk on the “Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter”. ACD Director of Research, Laura Trutoiu, noticed a recent informative publication from Schlebach’s lab and invited him to attend the 2020 Virtual Conference. “It has been a pleasant surprise to learn about all of the exciting, ongoing research in the ACD community!” Schlebach noted. As a new member of the CCDS community, we are thankful that he has been willing to jump right in with presenting some of his lab’s research findings. Read on to learn a little more about Schlebach, his lab, and his research as it relates to CCDS!

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07Oct 2020

I recently joined the ACD as the new Programs Coordinator, and as part of my orientation experience, I had the amazing opportunity to participate in the 2020 Global Genes LIVE virtual conference. This event was not only educational but incredibly inspirational. I learned so much and came away from the experience with a greater understanding of why we do what we do at the ACD. I would love to share some of my highlights and takeaways with you!
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02Sep 2020

Pioneer. Verb. A person who is among the first to develop or be the first to use or apply (a new method, area of knowledge, or activity). Parent or grandparent of an individual with special needs, do you feel like a pioneer? Well, you are!

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26Aug 2017

picture of ben smiling

I thought it would be beneficial to share a profile of our four, almost five, year old boy with Creatine Transporter Deficiency (CTD) named Ben, who presents without seizures. All our CTD kids are different, so this is by no means a profile of CTD, but rather, a profile of our kid with CTD. I hope this helps others searching for a diagnosis and provides awareness of what CTD means to a family like ours. Here is a day in the life of Ben.

Height and Weight
When he was born, Ben was around the same weight and height as his older brother had been. As time went on, he stayed towards the bottom of the growth curve, and even off it for a time. We had to work with professionals to review and adjust his food intake for about a year. Right now, Ben is still in the lower percentiles for height and weight. He tops the scale at 31 pounds and is about 40 inches. He’s little, and it makes him look younger than he is.

Mobility
Ben has always been behind on mobility. He didn’t walk until he was 2 ½ years old. He’s had slow progress, but progress none the less. He can still lose his balance from time to time, and has issues with climbing and jumping. He also can’t go up or down the stairs without holding onto something, though he can at least tackle one step down without assistance. We still have baby gates up, he sleeps in his crib, and uses a high chair so we can keep him safe.

Fine Motor
I need to feed Ben for the most part. He can do finger food on his own, and he’s gotten better with a fork and spoon, but I must help. If I serve him a food that is not on his short list of favorites, I must feed it to him. He can drink from a straw, bottle or cup. Ben cannot draw or write. He is only capable of scribbles. He has trouble with stacking, putting beads on a string, and isn’t great with puzzles, either. He must really concentrate at times to do fine motor tasks.

Speech
My little guy does not speak any words. He grunts in strings, which makes me think he knows he should be talking in sentences. He loves to take you to what he wants, or push you there. He goes to what he wants and points as well. He will scream and cry when he is hurt or unhappy, which happens if he knows he isn’t being understood. He also doesn’t nod yes or no or wave hi or goodbye. He will occasionally give a high five though!

Despite this, he does seem to have good comprehension when someone else talks to him. He can understand two part commands, and knows what to do if I say we’re going to do something or go somewhere. He understands speech, even if he can’t speak himself. We use the LAMP program, which is on the iPad and combines pictures that speak the words. He uses this in speech therapy and at school, but it is a slow process for him.

Social
Ben loves to interact with people, and always has. He has the sweetest smile and loveliest laugh. He will engage with perfect strangers by going up to them and smiling, and sometimes touching them. He does a lot of independent play, but when interacting with other kids he doesn’t understand how to play well. He does engage in some games. For instance, he loves to throw a ball to the dog or chase his brother (or be chased). He can absolutely have fun with others, it’s just different than other kids his age.

Self-Care
We are still in diapers for the foreseeable future. He’s shown interest in the potty, meaning he sees the rest of us do it all the time because he loves to come with us, turn on the lights, flush the toilet for us (mostly while we’re still on it), and then go through the routine of washing hands. The basics are there and he will sit on his little potty, but the connections in his brain aren’t there to do the act.

He can take off shoes and socks, and he can pull down his pants. He can zip up and down, but not start the zipper. He can’t do buttons or snaps. Bath time is fun for him, and he can mimic the steps, but I still need to do all the work. He understands the basics of brushing his teeth, but not at all thoroughly. He can brush his hair, but not well. Understanding is there, but not the movement.

Sleep
He has awesome sleep habits and always has. He will sleep all night without a problem and still takes 2-3 hour naps in the afternoon.

Learning (and school)
I honestly don’t know what we’d do without special needs preschool – seriously. It has changed him in a short period of time for the better, even if he is so far behind his peers. Ben loves the routine of school. He is capable of learning, but it is at his own pace. Every year I notice huge differences in how he interacts and behaves in school, however, there are simply things he cannot do and ways he cannot participate. He also has a teacher assistant in class specifically focused on helping him through tasks.

He’s also had physical, occupational, and speech therapies both privately and at school since he was 10 months old. They have helped immensely!

Temperament
Ben is the sweetest, most easy going little boy. He is generally happy and giggles frequently. He does not have behavioral issues. People really love him and find him very special. He has a lot of energy and is always into something. He is so curious and it’s hard to get him to sit still.

That’s our boy! While every day is a challenge in one way or another, I can say with certainty that I am grateful that Ben has always made progress even though it is slow. There was a time when I couldn’t imagine him ever walking, but he did. Right now, I
can’t imagine a time where he will ever talk, but he might. So, we power through and take it day by day.

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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.