A Twist of Fate-ATS

The journey for a family to need to be on this page, is full of twists and turns that bring a lot of pain and joy. Some of you might find yourselves here because you just received the doctors diagnosis, others might find themselves here because they have been walking this path without support, others because they are old pros and just here to see what is new in the world of arterial tortuosity syndrome, others of education and want to help support others with ATS. What ever the reason might be, you are here for a purpose.

WHAT CAN WE EXPECT WHEN CONNECTING WITH THE ATOF GROUP?

If you or a loved one have been diagnosed with arterial tortuosty syndrome, you have found a “home” with us. We have a great, growing support group of patients, parents, grandparents, aunts, uncles, siblings, and friends, here. The thing is no matter “how alone” the journey can feel at times, with this group, you are not alone. You will find someone who is either going through what you are, or has been there before and can tell you their story and offer hope. There is a medical journal article that states the mortality rate of ATS is 40% by age 5, but that was the belief back then, but since A Twist of Fate-ATS (ATOF) and all of the families that have bound together to help educate and collaborate with clinicians and researchers we have drastically changed those statistics for the positive. There are so many treatments that we have found that are helpful for most with ATS. This condition is tricky and if we get into the complicated weeds of the the genetics of ATS, which we will later, then depending on the variants (or mistakes) that the patient has on the SLC2A10 gene, it can vary the outcomes for each patient. We do have a large network of providers and scientists, globally, who are specializing in ATS, so that gives us a much larger advantage than we had before ATOF started in 2014.

WHY IS THERE NOT A LOT KNOWN ABOUT ATS?

Many feel there is not enough known about ATS, and they are right. However, since 2014, there is so much more known about ATS then ever before. We are still considered in the disease discovery phase and it is a difficult place to maneuver out of. If shear will and determination could make there be a “cure” for ATS, then there has been more enough been thrown at arterial tortuosity syndrome to make that happen. To give just a quick glimpse at the struggles that there are with ATS scientifically, we need an animal model of the condition to help champion the research. It is difficult due to the mechanisms (or the things that happen in the cells due to the two variants or mistakes in the SLC2A10 gene that each patient has). Mice are the typical chosen animal model for diseases, due to, but not limited to the small area they need to live and breed, their vascular and heart are similar to humans, and they are cheaper than larger animal models. ATS is caused in the cell due to a transporter of the different changes in Vit C not working correctly. Humans need to intake Vit. C in their diet and if they don’t they can develop conditions like Scurvy. (I am sure you have heard about this on ships crossing the oceans or in stories of pirates) Mice are different than humans in that sense because they don’t need to intake Vit. C in their diet, so it makes it a little more complicated to make a model of ATS in mice. That is not to say that we are not trying. We have a video on the ATS and Related Education page on this web-site. I would recommend watching the videos we have created with our partners to learn more about ATS. Even for seasoned families, I recommend watching them and refreshing you knowledge and understanding.

WHEN AND WHERE IS THE NEXT ATS CONFERENCE?

A Twist of Fate-ATS does host conferences for patients and medical providers/scientists to learn and have some fun together, but COVID-19 put a huge dent in our plans. We will get back to in person meetings soon, so please check back often for updates.

WHAT KIND OF SUPPORT CAN I FIND FOR MY LOVED ONE’S DAILY LIFE?

We have created some material to help you and your family be prepared at school, if have ATS and are experience issues with your eyes and vision, and much more. We will be updating this website often with the latest and most up to date information, so please check back. If we don’t have something you are looking for, please message us. It could be we are working on it, or don’t know it is a need yet and would love see what we can do to help.

IS THERE A FACEBOOK GROUP? HOW DO I JOIN?

We do have a closed Facebook group, in order to join, you must answer a few questions. There are many conditions that cause arterial tortuosity, but only those with variants on the SLC2A10 gene, acutally have ATS. We only accept those families that have had genetic testing to enter into the group. I hope that you understand, it is not meant to discourage anyone from reaching out, but we have found that if you have only been clinically diagnosed with ATS, but not had genetic testing, that you could actually have another condition. Since most that are diagnosed with ATS are pediatric patients, we do not want to give false hope to the families that do have the condtion. Please still reach out and discuss with the leaders to see if they can help you through the process. We have had this happen in the past, where an older individual came to the group and had only been clinically diagnosed with ATS, but never geneticly tested. This patient at the time was in their mid to early 50’s. This gave the families so much hope, but we were all devistated when we found out that this individual did not actually have ATS after all. So if you susspect that you have ATS and you want to join, we do ask that you be genetically confirmed first. This difficult decision was made by the ATS families in the group, the clinicians, and the scientists. If you are interested in joining our closed Facebook group please follow the following link: https://www.facebook.com/groups/138029982926649.

Please let us know if you have any questions!