Confused - col1a2 gene
I don’t know if this post is a vent, or for advice or just anything really but thanks if you do read it 😊
For context: 25F. Brighton 7/9, scoliosis (early onset), flat feet, very blue sclera, velvety skin thin with visible veins, atrophic scarring, hearing difficulties in mid 20s, partial subluxations, chronic migraine, dental issues as child, 2 fractures before puberty, small hands and they are ageing quickly.
Recently I had genetic testing done (NHS R101 EDS panel) but was told many times (by a geneticist, rheumatologist and physio) there was not much point as would likely ‘come back with no result and just be hEDS’.
I just received the genetics panel report via email and it says heterozygous pathogenic COL1A2 variant: c.380G>A, p.(Gly127Asp). The laboratory report says this confirms COL1A2-related osteogenesis imperfecta.
I then received a letter from my geneticist consultant saying that COL1A2 changes are typically associated with OI but that people can also have features of EDS, and she thinks the finding is likely to explain my features. In the meanwhile she has asked the national EDS diagnostic service if they would accept my referral.
I don’t get to see my geneticist consultant until the end of September (NHS) so I am just sat here a bit confused with the information I have.
I don’t really know what to ask you guys, as I wasn’t expecting this result. Does this mean I have two separate conditions or are they mixed into one? Also in the UK can people with this finding have follow ups with a healthcare professional? (I know with the Hypermobile type in the UK no department really deals with it so I wonder is it the same for this gene?)
Thanks so much if you read this and have any insight, or just anything to say. Have a lovely day.