This is fascinating to me. While several members of my family exhibit symptoms, my son (age 26), is the only one who has had genetic testing, showing a mutation in SCN4A. This testing was done to substantiate a diagnosis of HKPP. Since that time, one of my daughters (age 21) was diagnosed with MS at the age of 16. As there is an overlap of her symptoms with my son’s, I can’t help but think we’re missing something. I have two other daughters (ages 24 and 18) all exhibiting symptoms of what we call HKPP, but wish I knew more. Information like this is incredibly beneficial in helping to unravel our family‘s medical mystery. I wish we had a team helping us put this frustrating puzzle together. Thank you for the work you’re doing in this field and for sharing!
Jackie, thank you for sharing your story. Monica's episode's on our TH-cam channel (part 1-3) is the Monica he mentions at the beginning of his presentation. You may find her story interesting. No cost to you genetic testing is available to you and your family, if you live here in the US. Here is a link www.invitae.com/en/uncoveringperiodicparalysis/ . You may find it helpful in finding answers for the rest of your family. Any medical questions can also be answered through the Ask an Expert link on our website periodicparalysis.org . We hope this information is helpful to you and your family.
Beckers myotonia congenita is autosomal recessive, meaning it’s passed on by both parents and I’m a 60 year old male that has always had the disease and the only one in my family with this disease.
This is fascinating to me. While several members of my family exhibit symptoms, my son (age 26), is the only one who has had genetic testing, showing a mutation in SCN4A. This testing was done to substantiate a diagnosis of HKPP. Since that time, one of my daughters (age 21) was diagnosed with MS at the age of 16. As there is an overlap of her symptoms with my son’s, I can’t help but think we’re missing something. I have two other daughters (ages 24 and 18) all exhibiting symptoms of what we call HKPP, but wish I knew more. Information like this is incredibly beneficial in helping to unravel our family‘s medical mystery. I wish we had a team helping us put this frustrating puzzle together. Thank you for the work you’re doing in this field and for sharing!
Jackie, thank you for sharing your story. Monica's episode's on our TH-cam channel (part 1-3) is the Monica he mentions at the beginning of his presentation. You may find her story interesting.
No cost to you genetic testing is available to you and your family, if you live here in the US. Here is a link www.invitae.com/en/uncoveringperiodicparalysis/ . You may find it helpful in finding answers for the rest of your family. Any medical questions can also be answered through the Ask an Expert link on our website periodicparalysis.org . We hope this information is helpful to you and your family.
Beckers myotonia congenita is autosomal recessive, meaning it’s passed on by both parents and I’m a 60 year old male that has always had the disease and the only one in my family with this disease.
Leroy, thank you for sharing your story with us.
Hola vivo en Argentina, como puedo contactarlos
Hello, you can contact us through our website. periodicparalysis.org/