“A Day in the Life” -Amy

05Feb 2020

I wanted to talk a bit about something that my son said to me last year. This surely stuck out in my mind as important to share here. I’m sure a large number of readers are parents or caregivers of a loved one with a creatine deficiency. Some parents may have more than one child. And given that every family dynamic is different and each affected child is unique, this is just our own family’s experience that led to this topic. Continue reading

20Jan 2020

Pictured: Dr. Sonja Sucic from the Medical University of Vienna presenting on pharmacochaperoning at the Creatine Deficiency Workshop in Rotterdam in September 2019

Being a CCDS/CTD mom, I understand that it can be very easy to put a huge amount of hope in the idea of prospective treatments. The exciting news is that it’s not just a cliché to say that we can each make a difference. Our individual participation in the research process is vital and necessary to help researchers in the quest to find a cure for CTD. There are researchers around the world working on innovative new ideas for therapies that could really work to help our loved ones. Providing access to patient data is in our hands as parents and caregivers, and it is not an understatement to say that if we don’t do our job, the researchers can’t do their jobs. Continue reading

11Nov 2019

When I was faced with the CTD diagnosis of my son, who is now 10, I felt a huge, monstrous, feeling of overwhelming and it never went away. None of this is his fault, but the responsibility, the volume of things that needed to be taught, the learning, the management of appointments, the therapy, medication, and paperwork was a lot to handle and it ultimately fell on my lap as his primary caregiver. Continue reading

31Oct 2019

When the news came out about Lumos stopping the development of the drug they were working on to treat Creatine Transporter Deficiency (CTD), as a parent, it was a very emotional day and made me realize how important the drug development process is to me, to our family, and to our community. I recalled seeing a presentation at the inaugural ACD CCDS Scientific & Patient Symposium in 2018 regarding the drug development process that was helpful and eye-opening for me as a relative newbie to the world of pharmaceutical drug development.

I was so happy and relieved to find out that the Vigilan study would continue to move forward and that Ultragenyx would take over the role as sponsor of this study. Most recently, Ultragenyx shared an update with our CCDS community regarding their role in the VIgilan study and their CTD clinical development program UX068. This was yet another reminder about all that I have yet to learn about this process.

For my husband and I, participating in the Vigilan study and being involved with the Association for Creatine Deficiencies as volunteers is extremely important to us, and we are so grateful to have opportunities to advocate for our son (Cadman, who is 4 years old and was diagnosed with CTD just before his second birthday), and play a role in the eventual development of a successful treatment for CTD. We have participated in the Ultragenyx online survey on CTD, and it was pretty quick and easy, and great to know we were helping contribute to the knowledge base of the team at Ultragenyx who are working hard to develop a CTD treatment that will hopefully make a meaningful difference in the lives of patients.

It can be overwhelming to try to understand the timeline and terminology involved in clinical drug development, as well as making sense of what all of it means for our son. In this presentation, Dr. Dave Weiner from Lumos does an excellent job of explaining the process. It is definitely worth the time to watch this if you have any questions about the drug development topic.

**Thanks to Erin Coller, ACD Ambassador, for writing this blog post.**

24Sep 2019

The Association for Creatine Deficiencies (ACD) recently interviewed Christina, a 17-year-old senior in high school, who was diagnosed with L-Arginine: Glycine Amidinotransferase (AGAT) deficiency as an infant to share her story in regards to her diagnosis, why advocacy is important to her, what her hopes are for the future, and more, in honor of Newborn Screening Awareness Month. Continue reading

13Sep 2019

I had the recent pleasure of attending an event hosted by the Oklahoma Rare Action Network (RAN) Ambassadors, Tamra and Jade. Together with representatives from the National Organization for Rare Disorders (NORD), Michelle and Rose, they offered an opportunity to engage with staff from Congressman Markwayne Mullins office. Though the Congressman himself was unable to attend, the opportunity to take advantage of his staff member, Josh, being present was very productive in the effort to spread awareness of topics that impact the rare disease community. Continue reading

21Aug 2019

A phrase I hear quite often is, “I don’t know how you do it.” I don’t always know the correct response, so I usually just smile and take it as the compliment I think they intend it to be. I am not sure what they are seeing from their perspective. Are they seeing Jacob throwing himself to the ground in a temper tantrum? Are they seeing him frustrated when he can’t communicate his needs? Are they seeing me as a frustrated mom trying to do my best with the situation? Are they seeing him as a happy child? I see all of these things.  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.