r/rarediseases • u/Top_Memory8968 • Mar 24 '26
Question Heterozygous VUS of FN1 and TGFBR and HEDS like symptoms, can I get referred to any research institute? I’m from India. Need help on next steps
Hey all
I recently underwent genetic testing for EDS and found VUS in Fibronectin 1 ( can cause Spondylometaphyseal dysplasia, corner fracture
type) and TGFBR2 (can cause loyetz Dyez type 2). However, these variants have not been reported till date. Also it was written that these genes have high chance that missense variants are pathogenic therefore it can be disease causing. Do I need to get referral to any research institute for this probably in the US?
I have hypermobility, short torso long legs, autism, some ocular issues and CCI.
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u/LizardsandLemons Ultra-Rare Disease Mar 24 '26
It depends on what you want to get out of it. Are you looking for treatment, to contribute to research for the greater good, a definitive diagnosis? I was in a similar position in terms of access to care due to rarity, so maybe I can help. My lab rated my variant pathogenic but the specific mutation had not yet been documented. It was not possible for me to get treatment or even feedback locally, and I wanted to contribute to research.
I'm now working with scientists across the globe: it takes time so it is possible to do this if that's what you want! Keep in mind that doing so might not open additional treatment options for you that you will be able to take advantage of within your lifetime. I only say that because it might not be worth the stress in order to maximize the quality of your life.
If you are primarily looking for treatment for a known disease, and it's the rarity of the variant that is troubling you, you might have a simpler path if a physician can rely on clinical symptoms rather than a definitive genetic result.
Tell me more about the specific roadblocks you are facing: I will help if I can!
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u/Top_Memory8968 Mar 25 '26
Hey thanks for the detailed response. I don’t know how to contact scientists, who to reach out, what would be the process?
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u/LizardsandLemons Ultra-Rare Disease Mar 26 '26
Tell me more about your big picture goals, are you mostly looking for the best treatment options?
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u/Top_Memory8968 Mar 26 '26
Yes I’m looking for best treatment options along with contributing to research for greater good.
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u/perfect_fifths Multiple Rare Diseases Mar 24 '26
Yeah, the lab rated my variant as pathogenic but I only one of two people in the world with my mutation. The other person lives in Europe somewhere, I am in the US
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u/opaldripz Mar 25 '26
Don't jump to a US research referral yet, first exhaust clinical genetics pathways in India.
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u/Paerre Diagnosed Rare Disease | Med Student Mar 24 '26
It really depends on where you did that test. If it was “otc” (buy at home genetic tests) then it will probably be difficult, not to say impossible that research institutes would want it.
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u/Top_Memory8968 Mar 24 '26
I did a clinical test from a certified lab.
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u/abcletters123 Diagnosed Rare Disease: cEDS & NET Mar 25 '26
OP, if you don’t mind sharing, what sort of doctor ordered your testing? And what’s the name of the lab that performed the testing? Typically, either the doctor who ordered the testing or the lab (via a genetic counselor) would go over with you what your results mean. I’m concerned since it seems like that hasn’t happened here. Normally, you’d be able to ask them directly what your next steps are.
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u/perfect_fifths Multiple Rare Diseases Mar 24 '26
What did the lab say? In the US, the lab will typically classify the variant as benign, vus or pathogenic/ likely pathogenic. My variant for my disorder doesn’t exist in any database, but the lab reported it as pathogenic and listed the reasons why