“Those Who ‘Get It'” -Janet

06Mar 2020

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

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

09Sep 2016

spiro1

My 7 year old son has CTD and Autism. He was diagnosed with CTD January 2012 and then Autism, September that same year. At 1 year of age his symptoms began to be quite evident. By 2 years old, they were in full swing. At 3 years old, when he received the Autism diagnosis, our lives had been literally turned upside down – shaken – and the contents of our ‘lives’ strewn about in our home, with only my husband and I to pick up the pieces and “carry on” with things. In 2011, (pre-diagnosis) Spiro was 2 and I took a one year leave from my work to manage his needs. In 2012 I had to return to work part-time. Obviously our family, friends, and neighbors knew about Spiro’s diagnosis. But there is ‘knowing’ about a diagnosis and then really knowing. A few years ago I met a special needs mama, and she politely termed it, “those who get it”. And I don’t think anyone can get it unless they live it. Does our family that we see on weekends get it? No, I don’t think so. Do our friends? No. Do neighbors? No.
I don’t think seeing me out and about with my kiddos in the community, on our walk to school, or at an afternoon get-together gives an accurate picture of the effort that is our lives. The stress and daily emotional roller-coaster ride of having a child with CTD and Autism can be tremendous. Which brings me to this week’s topic: ‘those who get it’.
I’m not sure how this one moment in time popped into my head, but I believe that it was the summer of 2013. Spiro was almost 4. Spiro’s Autism symptoms and therapy schedule were in high gear. I worked every other day in order to facilitate Spiro’s therapy. I’ll always remember this one day in particular. It may originally have been with contempt, but now I try to use it to help my heart.spiro2
It’s a weekday, my husband has a day off and we have all the kiddos. As I recall, it was a beautiful sunny day, and I suggested that he take Spiro to therapy so I could take the other kids to the park for the morning. This park was across the road from our house. We hardly ever get across the road to that park. But on this day, I pack up my 2 typical kids, and off we go. When we get there, one of my neighbors is there as well with her 2 kiddos. The kids are playing, and I begin a casual conversation. As we are talking, my neighbor says, “I’m surprised to see you- I didn’t think you were a park person”. Hmmm…. ‘I didn’t think you were a park person???’ Now right here, is a perfect example of not getting it. Knowing that someone could be in such oblivion to the weight of my responsibilities to my child was hard to hear.
Now this could very easily turn into a bitter outpouring on why in 2013 my life was literally not a walk in the park. On how my son could hardly tolerate a trip to the park. That going to the park absolutely exhausted him. That he couldn’t handle the heat. That it is extremely difficult for me to keep him safe at a park. That my son has sensory issues and sand is his kryptonite. That it’s so hard to labour through a park visit to only endure the meltdown when we get home. Not to mention the fact that we are almost always at therapy, so our attendance at the park is not on our to do list.
spiro3But I’m not going to end the post like that. Sharing this shows that wherever you go in life, you are going to encounter those who don’t get it. They will say whatever is on their mind, and to them it’s just another sentence. And sometimes hearing that sentence uttered, or even the vague feeling you get around people, is just like sticking a dagger in your heart. And that dagger will remind you of all the reasons you aren’t that carefree park person.
So to end this, I want to say that as special needs parents, it’s not always our job to explain the weight and responsibility of our children to the world. It wasn’t on that bright sunny day at the park. It may never fit into casual conversation. But the comments of those who don’t ‘get it’ will one day find their way into your circumstances. And when that happens, I want to remind all of you, that instead of getting angry and bitter, we need to make sure we put on our armor so to speak. Those comments may happen, and if they do, take that deep breath, perhaps look at your special child, and protect your precious heart.

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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.