Eddie's CTD Journey

01/18/2023

After seeing his cardiologist yesterday and having his echocardiogram and EKG done it was determined that Eddie has Long QT syndrome and his numbers have gone up since last years check up. We will now have to monitor medication he is given to make sure it doesn't cause issues with his QT. He will continue to get yearly Echo's and EKG's done to monitor his numbers to check for increases. Right now he doesn't need medication to lower his QT but any change in symptoms or numbers might add heart medication later on to keep his heart rate stable.

This is yet another complication of his CTD diagnosis, we continue to take joy in the happier things and try not to let the not so great things take over our thoughts.

It is hard to watch your child struggle but we are glad for the proactive doctors who are making sure we take every precaution possible to make sure Eddie stays healthy.

11/16/2022

In 2021, Eddie was diagnosed with a rare, untreatable disorder called Creatine Transporter Deficiency (CTD). is leading the way in funding research for treatments for Eddie and others like HIM. This year, our family is joining ACD to help raise funds for the first ever Research Center for Cerebral Creatine Deficiency Syndromes! This project will bring together two full time researchers and six expert mentors who will engage in four groundbreaking research projects aimed at treatment and diagnosis for CTD. Please support our family as we pursue this exciting research by making a donation! https://secure.givelively.org/donate/association-for-creatine-deficiencies/holiday-heroes-2022/ashlea-pfannenstiel

THANK YOU SO MUCH TO THOSE THAT HAVE DONATED SO FAR! we have raised $743.00 of our $10,000 goal!!! we are forever greatful for everyone’s support for Eddie!

07/10/2022

Thank you everyone who has registered so far, there is still time to sign up and walk with us, in person or virtually. If you do not want to walk, you can still donate to our team page and get a shirt or no shirt if you want. this means the world to us that you are helping support Eddie! we love each and every one of you.

07/08/2022

The deadline to receive a t-shirt in time for the walk has been extended to Monday!! Don't wait any longer – register today! creatineinfo.org/walk

Select join a team and click on eddie-franco 🙂
Help support our boys in person or virtually!

Join us for ACD’s 7th annual Walk for Strength–an event that unites people from all over the world in raising awareness for Cerebral Creatine Deficiency Syndromes (CCDS). Be part of a community that is committed to building strength and changing lives!

06/22/2022

Good afternoon, i am working on setting up our page for the walk for strength in august. we will be doing an in person walk but you can also join virtually. please join us in support of Eddie this year as we bring awareness to CTD and keep funding alive to hopefully one day find a cure.

once i get our page up and running i will post the link on here for you to sign up, you also will get a cool tee-shirt :)

04/18/2022

We went to the beach for easter. It was a great time for Eddie to get some sensory play in to help with his sensory processing issues. He LOVES walking the beach but the water and sand are a different story. But we got him playing with sand for a little bit to work on new textures so i count that as a win! He was NOT a fan of the water (he struggles right now with bath time) and the waves moving up and down the shore were to much for him but he had a good time.

04/07/2022

He may not talk but he can SHOW you love ❤️❤️❤️

04/05/2022

Practicing those balancing skills on the trampoline. Did you know CTD is normally passed down on the X chromosome from mom? In Eddie’s case it was not passed down and a new occurrence just in Eddie.

while him having CTD isn’t the best news we could have gotten it does let us know that Avery can’t pass it to her children and the older boys do not carry it either.

03/24/2022

This is what happens after Thursday morning physical therapy sessions. He worked really hard today and his energy is depleted this afternoon. He is on hour 3 of his nap

03/24/2022

Eddie keeps making great gains in physical therapy. We are so thankful for his wonderful therapists who have helped him gain the strength to walk. He still has a long road with his physical strength but he never stops walking anymore!

With speech and Occupational therapy his main goal right now is basically learning to be functional and learn daily life skills appropriate for his age.

Since he is non-verbal we are also working on trying to teach him other ways to communicate his needs (he is usually good about "going" to what he wants but he still isn't "pointing" or showing other gestures which makes him frustrated and upset which turns into bouts of tantrums (which is normal for toddlers but when you cannot communicate it makes that 10xs worse)

He has started breath holding when he gets angry which leads him to pass out and have mini seizures (these are self provoked) so there is nothing we can do and they are not dangerous to him.

We continue to encourage him and help him the best we can. He is still the happiest kid and usually always smiling and laughing.