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
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
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
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!
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 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
This essay was written by Erin Coller with the support of Laura Trutoiu, Director of Research, 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]
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
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
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.**