“Blessed to Have Her Here” -Sarah

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

07Aug 2019

My fourth Ironman is in the books. Lake Placid, New York is a beautiful place and the trip was amazing. Beth and I chose this location because not only could I participate in the Ironman event, but we were celebrating our 20th wedding anniversary and the venue did not disappoint! We won’t soon forget our time there. Continue reading

15Jul 2019

Hello again, friends! I know it has been a while since I have updated everyone on what’s going on in our daily lives. Well, I will be the first to say, things have been a bit hectic this summer, but the craziness is welcome and we love the way that our lives are evolving! Continue reading

10Jul 2019

The Association for Creatine Deficiencies is excited to partner with Coriell, a world leader in biobanking (the collection of biosamples for research purposes) to collect and store cells from patients with Cerebral Creatine Deficiency Syndromes. We need your help as a community to donate cell samples to enable research! Continue reading

07Jul 2019

I know I’m one of the lucky ones. We still have our son. There was a moment in time where I seriously considered giving up custody of my precious baby boy, my third child. Sam is 21. He has CTD and therefore, Autism, Epilepsy, Sensory Processing Disorder, food sensitivities, ah… you know the list. Continue reading

28Aug 2016

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So this is my second post about Ella, who is 7 in a few weeks’ time! It’s scary how quickly they grow. In my last post I tried to keep to the point and just give you Ella’s background and how far she’s come. I thought this time I would say a bit about us and our relationship- how we manage day to day activities.

I remember when Ella was first diagnosed. The most difficult bit, I think, was the not knowing- what are we dealing with? What do we expect? And as you ask the question as many times as you can think of different ways of saying it – the answer is always the same: “We’re not sure, but time will tell!” This is what parents are told, as probably all CCDS parents have experienced!14114527_851486564986090_798315164_o (1)

What also was difficult was having a child that was growing but that cognitively was staying the same – that was tough. She didn’t mind – she was quite happy to carry on playing on her rocking horse or chewing soft toys, I found that difficult to understand how to fulfill her needs, she wants to play with baby toys still but is that helping her to develop? Versus I want to encourage her to use more grown up toys – but she didn’t want to or didn’t understand the concept. Ultimately, I decided that actually all that matters is that she’s happy and enjoying herself so we tried child led play.

Now, my baby is no longer my baby! She’s my grown up girl who is obsessed with Barbie and bracelet charms and princesses!! Though, luckily she still has a sporty side! Her engagement with pretend play games amazes me, her attention to detail from conversations she’s recalled and how inclusive she is with all her toys and most importantly, her imagination! I struggle to keep up with the story line, but it’s usually around getting ice cream, going to see the doctor, and then going diving or to the park! The magic of being able to listen to her having back and forth conversations, with voice changes included, makes my heart melt every single time. I guess that over time, I’ve come to realise- what does it matter? How she is or where she will get to? 3 years ago for her to focus on my eyes for more than just a passing glance would have been a miracle, now she talks for Britain and is 100% understanding and engaged in all conversations directly with her or ones she overhears!

14075206_851485164986230_1662237053_o (1)For her to be where she is, leaves no doubt in my mind that she will continue to progress. But if she was to plateau, that would be ok too, because I know we’ve already been blessed to have her here anyway. What’s the point in trying to second guess the future? I, like many parents here, have lost countless nights worrying about the future for Ella, worrying about things that I have no control over! Right in the here and now, I am so lucky to be able to witness her grow and develop and change from a child into a little girl with opinions and expectations- of me and of life! The only hope that I have is that I can meet those expectations for her, because she deserves the world!

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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.