I remember you! You are Aggie's granddaughter, Darrel's daughter, right? Your twin is Darrel, right? You were really little when we had the reunions in Sherman at Woodlake and slept in that big "bunk house". There must have been fifty or sixty people all sleeping in one room. I came to the first reunion when I was 15. I remember "Aunt Aggie" well. She was a good cook. And Sis, and Mary, and Dora Mae, and Isabel, and Gladys, and especially Evelyn. Ralph's grandmother was your g g Aunt Alice Mae. She used to come to all the reunions in Sherman, and we took her to Ft Worth to see her family many times.
A bit about HHT. It is autosomal dominant, which means that you have a 50/50 chance of inheriting the gene. If you have the gene, you have HHT, although many people are totally asymptomatic. If you have the gene, you can pass it on. About 1/2 if your offspring will have it. Each generation is different, mild, then serious, then mild. There have been children born with brain AVMs and stroked out, when their parent showed no symptoms at all.
We know about 6 or 7 of the genes associated with the trait, but also know that there are probably 6 or 8 others that have not been identified. This is one reason for families to enter into the HHT Genetic Program Database.
Ralph's mother Marjorie, had mild nosebleeds from her early teens, but no other symptoms--except she had mild "asthma". Come to find out she had pulmonary arterial/venous malformations (PAVM) in her lungs that formed aneurisms and slowly bled out into her lungs when she was in her 50s setting up scarring and COPD. She died in my arms.
Ralph is now fighting daily nose bleeds just like Aunt Evelyn did, and is very anemic most of the time. He also has intestinal bleeding like Evelyn and Alice Mae had. The experimental program with Avastin is helping. The nosebleeds have been reduced.
Many of the problems do not show up until later years. Aunt Evelyn bled to death in the emergency room. She was virtually bed ridden for the last year of her life. We had a long visit with her when our Laura was born, about six months before she died. Such a nice lady.
Our daughter, Karyn, has a port wine birthmark, which they now know is a marker, bad varicose veins, and PVAMs in her lungs that have not caused her any trouble--yet. Her son, EJ, (also a twin) has nosebleeds and at age 7 was diagnosed with HHT. He has been screened for brain and lung AVMs but is clear so far. Our daughter, Laura, has shown no symptoms except one small telangiectasia on her hand but the genetic tests say that she inherited the trait also.
Doctors at the HHT clinics recommend that all children of families with HHT be screened at birth for brain AVMs and for PAVMs by age 10. Marjorie's little son, Gary, died as an infant suddenly. It may have been associated with HHT, but no one knew what it was at that time.
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Teddie Jo Linxwiler Ryan