Creatine Transporter Deficiency (CTD)

“My Worst Fears” – Chelsi

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

“The Rare Sibling Experience: NORD Webinar” – Erin

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

“Coping With the Fear” – Nancy

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

“Creating a Meaningful Life in the Midst of COVID” – Nancy

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

“Are You a 21st Century Pioneer?” – Nancy

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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“CLOSED.” – Nancy

“School closed,” says Sam for the 14th time today. I take a deep breath. If I don’t answer him, he’ll just keep going.   Continue reading

“Progress” – Lacy

My son recently said my name for the first time. I don’t mean he called me Mommy. He says that about a hundred times a day, even when he gets a response. He said my actual name. Continue reading

“Our Journey Into Medical Marijuana for Epilepsy” – Nancy

The following is our journey into using Medical Marijuana (MMJ) with our son who has CTD, autism, and epilepsy. For those of us in OH, this is a new option in the treatment of seizures and most of us have little to no experience in the medical use of this product. In talking with other families, I realize that there’s a lot of confusion, stigma, and fear, but also curiosity, surrounding the use of MMJ in the treatment of epilepsy and other conditions, so I thought I would share what I’ve learned thus far on our journey with MMJ. Continue reading

“I Wish I Had a Brother” – Janet

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

“Creating Capacity” – Janet

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