Great Aunt Diagnosed with Illness

[GuitarStrummerBGM]

Hey guys,I just wanted to tell you guys some unfortunate news. Recently my great aunt (my mothers aunt) was diagnosed with what so many of us fear so much. She is in her late 70s. As far as I know, twitching was not a symptom of hers, just increasingly obvious weakness. I saw her about a month or so ago and she really seemed to be going downhill fast. At the time I saw her they thought that she had suffered from a stroke because her speech was greatly impaired. Now they have diagnosed her with ALS. She has really gone down hill fast. To this point I had never been affected by ALS, except for the fact that I have lived in fear of it since the begging of February last year. It scares me now this disease is in my family. However I doubt that this was a familial case of ALS, considering that she is advanced in age. IDK what to feel. ALS seems so real now. It still terrifies me. I am just glad that I am twitching and to this point have not gone through any weakness or any other symptom of ALS. I just dont know how to feel right now, im in need of support guys.

 

[edadoStar]

Your Aunty's SLA is very unlikely to be familiar (late onset), moreover she is a second degree relative. I wonder if she was on statins (despite I don't blame them for the increased prevalence of SLA).Your Aunty's story is also in keeping what whatever it said to BFS sufferers by all the Neuro we've seen. So, this should be reassuring per se.All my support to you and your family.Keep strong.

 

[SipeNerd]

I'm sorry to hear of your bad news, a loss in the family is always hard. At least she lived a long life before she was stricken with the disease. I can however offer you some helpful information. The majority of patients with adult-onset ALS (90%) have no family history of ALS, and present as an isolated case. The remaining 10% of persons with ALS have a close second family member with ALS, which is referred to as familial ALS (FALS). Changes in one gene located on chromosome #21 and called superoxide dismutase (SOD1) have been found in about 20% of families with FALS. The SOD1 gene is composed of five regions called exons. If you think of your genetic material as a string of letters that together make up a book of instructions for the human body, the SOD1 gene is one chapter and composed of 5 different pages. SOD1's normal role is to detoxify substances called free radicals, which can be harmful to cells. Changes in the SOD1 gene are thought to create a new but still undefined function that is toxic to motor neurons. Most often, SOD1 changes are inherited in an autosomal dominant manner.Prenatal genetic testing technology for the SOD1 mutation exists. Patients and their families should discuss questions and concerns with their neurologist and genetic counselor for more information about this complex and personal matter. Because five different parts of the SOD1 gene need to be looked at, the testing usually takes about 2-3 months. The cost is about $300-500 depending on the clinical laboratory that is doing the testing.