Hi all!
I was recently diagnosed with "double heterozygosity for type 1 and type 2N vwb" after undergoing some genetic tests. I've been trying to find some information about having two types but its proving difficult. I would be grateful if anyone had any information or advice to give.
Thanks!
Hi Rachel,
For somewhat non-technical discussion, try googling Type 2N vWD and click on the Mayo Clinic choice, which will probably be in the first few. It discusses heterozygosity for type 1 and 2N. The 2N genes are on an autosomal chromosome while the type 1 gene is on the X Chromosome. That you have both types present is somewhat rare but not unheard of. The treatment for 2N is not necessarily the same as for type 1 so make sure your docs know of the double diagnosis. I keep a notebook with relevant blood tests when I ever go to the hospital or a new doc. I am a rare bird, also, as I have type 3 (acquired), which showed up in my late sixties. It seems to be from a stem cell mutation in the bone marrow that makes the VWF platelets. Mine are either not made in the first place and/or attacked by antibodies (inhibitors) made by the errant stem cells.
Another web site that talks about type 2N and gives information and leads comes from the Canadian bureau of health. That site will show up in the same Google search near the Mayo Clinic article.
Australia also has a nice web site with lots of VWD information.
I love Doctor Google and always use her for advice. Especially good are the University and National Health websites because they are well-researched.
Good luck and share what you find out!
John the elder
Hi Rachel,
My six year old daughter was recently diagnosed with the same thing, also through genetic testing. She has Type 1 and Type 2N. I don't have a lot of information either, expect that she is very rare! We are very lucky in that her symptoms are not extreme. How are you doing? Any light you can shed on your symptoms/things to watch for with her would be helpful.
Thank you,
Frances
Hi Frances,
Personally I've found that having two types exaggerates some symptoms, while lessening others. For instance I have little to no bruising, but you only have to touch my nose and it'll bleed like crazy. Obviously when your daughter gets a little older she'll experience her monthlies, I take monthly injections of desmopressin which improves my symptoms some what - a benefit of also having type 1 as typically desmopressin is not very effective in type 2N sufferers. However I suppose you would have to check if this would be available for you as in the UK we get all that stuff freely.
Rachel
Hi Rachel,
Thanks for responding! It's so interesting how 2 people can have the same diagnosis, but radically different symptoms. With my daughter, the bruising is terrible, but we haven't experienced the nose bleeds like so many people get. I'm glad Desmopressin helps you. We can get it in the US, in fact I recently had IV doses before and after surgery and it was wonderful in controlling the bleeding and bruising on me. However, we did a challenge with my daughter over the summer and she doesn't respond to it at all, so it doesn't help her. The doctor calls her a severe VWD patient. I do worry what will happen when she starts menstruating, it's going to be complicated! There are other more extreme medications that are available, and we have a great pediatric hematologist, so we will just cross that bridge when we come to it!
Frances
Rachel said:
Hi Frances,
Personally I've found that having two types exaggerates some symptoms, while lessening others. For instance I have little to no bruising, but you only have to touch my nose and it'll bleed like crazy. Obviously when your daughter gets a little older she'll experience her monthlies, I take monthly injections of desmopressin which improves my symptoms some what - a benefit of also having type 1 as typically desmopressin is not very effective in type 2N sufferers. However I suppose you would have to check if this would be available for you as in the UK we get all that stuff freely.
Rachel