What outcomes are the most important for families? Better quality of life, less seizures, fewer hospitalizations, improved gait, improved speech, improved developmental potential, early diagnosis, etc? How can we address these questions through a comparative study? Would you participate/collaborate?
FYI - Comparative Study: is a type of study that compares different treatments to see which works best for a specific health problem. It helps doctors, patients, and caregivers make better decisions by showing which treatment is most effective and safest. CER (Comparative Effective Research) looks at real-world outcomes and can include medications, therapies, surgeries, or other interventions. This research is important because it provides evidence on what works best in everyday healthcare settings, helping improve overall patient care and health outcomes.
Short-term outcomes that are most important for me are: absence of seizures and spells and avoidance of metabolic crisis; and improvements in functions that make activities of daily living better/easier including improved speech and language, energy levels, increased social and emotional awareness, and cognition. Long-term outcomes that are important to me are: improvements in developmental and intellectual abilities and level of independence. CER could look at a TDD individual’s “baseline” health index levels and then introduce an intervention (e.g., vitamin b5/vitamin B) and then measure those same health indices at regular intervals. Yes, we would be interested in participating and collaborating.
Without a doubt, a better quality of life is what I want to see for my Ellie. We have never dealt with seizures and our hospitalizations have been few. An improved gait would be a great place to start. Ellie has had physical, occupational, and speech therapy for as long as I can remember. We have seen some improvement in her gait, but we have also learned that she has a weak core and we have been trying to improve that strength.
We have been on the B vitamins for many years and saw a vast improvement when we started them but it plateaued. Even though there was improvement, you have to wonder if that is all the improvement there can be.
Our oldest son and myself are both Type 1 diabetics. We have noticed a lot of similarities between TDD and Type 1 and address a lot of the issues the same. When she is tired and exhausted, we get her a snack and some rest and she seems to perk up.
We have also noticed the importance of regular bowel movements. Ellie starts to have muscle tone issues and less function if she goes two days without a bowel movement. We have adjusted her diet to make sure she gets plenty of fruit an fiber to help with this.
I’m sorry if I misinterpreted your question because I couldn’t speak English well.
Yes, I would like to participate/cooperate.
My son seizures have started recently again, so first of all I want to stop them and help him live a healthy life, and then improve his developmental potential and his speech and motor functions.
I’m also interested in the diet of other TDD patients. Are there any other vitamins or minerals that they actively take other than vitamin B, and what do they eat on a daily basis?
Currently, I feel Ryan is at a pretty good relative baseline compared to where he has been in the past. We credit the B-vitamin regimen for this and we no longer live with the “always on”, baseline fear that the next illness or stressor in his life will tip him into crisis - VERY grateful for this!!
With that said, my hope for Ryan and all TDD patients long-term is that we’re (a) able to prevent any further regression (neurodegeneration or otherwise) and (b) ideally, work towards enriching the overall quality of their lives that would come with improved cognition and problem solving skills, clearer speech, more steady gait etc. I’ve always felt that just marginal improvement in these areas would make a huge difference in Ryan’s life in terms of self reliance and independence.
I think it’s important to keep raising the bar here on expectations as we reach each of these milestones
Katie has been stable for a few years yet. For us it is the continuance of that stability and the avoidance of any steps back. Right now we are kind of on auto pilot… Vitamins, hydration, sleep… and Katie knows how important all of this is for her. We are fortunate that she does not have seizers, does not have a feeding tube and has been doing well.
I agree with Mike’s comment about priorities for Ryan. Now that we live with less fear on a daily basis, my thoughts turn to those that are out there living with TDD and don’t yet know it. Early diagnosis and getting these people on vitamins would be life saving. I hope we can get to the point where people are diagnosed before they ever see their first metabolic crisis and before their quality of life starts to decline with spells and developmental delays.
