In case you never got the explanation: You had a defect in the code that makes one of the proteins that make up collagen, but it was not the same defect as the one that is recognized as causing EDS. Right spot, wrong defect. Like if there was a bit of code that was supposed to go "ATGGCT" and people who were missing the 1st T in that bit like "AGGCT" were known to have EDS, but people who had an extra T there instead like "ATTGGCT" tended to have hyper-flexibility with associated dislocations and rheumatism but not EDS, then the results would look similar to yours. They'd say yes, you have a defect there, but it's not the right defect. Also, the word "benign" is being phased out when it comes to hyper-flexibility, because it's a terribly misleading word. It leads to plenty of problems. Now here is the good news. You can keep an eye on the Hundred Thousand Genomes Project (Google it. The data base is free and open to the public.) and see if they add any of your defects to the list over time, maybe get your diagnosis re-evaluated and upgraded to EDS. And even if you don't, even if doctors insist your DNA variants and your related health issues do not qualify as EDS, you at least know which defects you have and that yes, they ARE the cause of your hyper-flexibility and some of your health issues.
In case you never got the explanation: You had a defect in the code that makes one of the proteins that make up collagen, but it was not the same defect as the one that is recognized as causing EDS. Right spot, wrong defect. Like if there was a bit of code that was supposed to go "ATGGCT" and people who were missing the 1st T in that bit like "AGGCT" were known to have EDS, but people who had an extra T there instead like "ATTGGCT" tended to have hyper-flexibility with associated dislocations and rheumatism but not EDS, then the results would look similar to yours. They'd say yes, you have a defect there, but it's not the right defect. Also, the word "benign" is being phased out when it comes to hyper-flexibility, because it's a terribly misleading word. It leads to plenty of problems.
Now here is the good news. You can keep an eye on the Hundred Thousand Genomes Project (Google it. The data base is free and open to the public.) and see if they add any of your defects to the list over time, maybe get your diagnosis re-evaluated and upgraded to EDS. And even if you don't, even if doctors insist your DNA variants and your related health issues do not qualify as EDS, you at least know which defects you have and that yes, they ARE the cause of your hyper-flexibility and some of your health issues.
Wow so helpful! Thank you so much
I can help you with understanding your data. You can comment below if you need my help!
Konstantinos Kyriakidis thank you! How ?!