“A Day in the Life” -Amy

09May 2019

When your child is different, there are a lot of worries. We worry about their health; their education; and their safety. But we also worry whether they’ll have something that most of us take for granted. A friend. A real, honest-to-goodness friend. Someone they can relate to, who likes to be in their company, and who will be there for them in good times and bad. Continue reading

26Mar 2019

Standing in front of my kitchen sink in the cold, blue, January dawn, I run the warm water to wipe off my son’s face before he heads off to high school. The washcloth steams visibly in the frigid morning air as I carefully wipe off Benny’s face, getting off any traces of breakfast or sleepy eyes. He turns 15 in a week. I realize that I have to reach up to wipe off his face. He’s now taller than I am. I’m struck by the poignancy of this moment. Continue reading

23Mar 2019

The Association for Creatine Deficiencies (ACD) welcomes Dr. Ton DeGrauw as part of the Scientific Medical Advisory Board (SMAB)! Dr. DeGrauw joins Dr. Longo, Dr. Andrews, Dr, Barshop, Dr. Chan, Dr. Morita, Dr. Salomons, Dr. Schulze, Dr. Skelton, Dr. Stockler, and Dr. Young as advocates for Cerebral Creatine Deficiency Syndromes (CCDS). Continue reading

05Mar 2019

Over-protective. Controlling. Helicopter Mom. Whatever you call it, that’s who I am. I’ve been this way since my first child was born in 1991. If I could have wrapped all three of my children in bubble wrap and locked them in the basement until they were 30, I would have. And yet, I haven’t been able to protect my most vulnerable child from exploitation and abuse. Continue reading

24Feb 2019

Watching the videos that are posted from the conference brings back the excitement and all the feels from being at the Symposium, surrounded by a community of families, kiddos, medical professionals, researchers, and pharma companies with one thing in common: a vested interest in Cerebral Creatine Deficiency Syndromes. Continue reading

14Feb 2019

Immediately following Caiden’s birth, we knew he was facing many struggles. We had a lot to learn. We had a lot to help him overcome. We had a lot of work. Did I spell that loudly enough? WE HAD A LOT TO LEARN. A LOT OF WORK! Continue reading

06Feb 2019

When it was decided to do the first ACD Scientific Symposium and Family Conference in Austin, TX 2018, the idea that so many of us would be all together for the first time, brought on a lot of hopes for a successful conference. The idea that we would have the world’s leading experts in creatine deficiencies, communicating in the same room, and then to be surrounded by CCDS parents and their children that I feel like I’ve known for years, and yet had never met, was incredibly special. We were all excited. This was going to be an amazing opportunity. What could we do with this meeting to really capture it? After all, we thought that we may not have another opportunity like this for years. The answer was clear: A video! Continue reading

03Feb 2019

Super Bowl Sunday marks two years since we officially received Cadman’s diagnosis. It was so strange answering an unexpected phone call from the neurologist while watching the Super Bowl, and immediately concerning. Just a couple of weeks prior, we also found out that I was pregnant with our second child, Emma, who is now 16 months old and the most delightful addition to our family. My husband Dan and I had been seeking answers for some unexplained concerning issues going on with Cadman for almost a year, and finally, the answer was found through the Whole Exome genetic test which the neurologist reluctantly ordered. The test results came in that Sunday a few months after Dan, Cadman and I did the blood work at Rady Children’s Hospital in San Diego, and the neurologist wasted no time in reaching out to inform us of the very unexpected results. It was an expensive test and one that apparently doctors don’t usually order until lots and lots of other tests have been completed and provided no answers. Continue reading

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.