Familial ALS

[Tkhalaska]

Not a huge update, but at least something. I had gotten sidetracked when my father passed away June 10 - 93 good years. Now ready to get back to it.

We have compiled the family tree to send in to NU, and I am also sending them the names and contact info of the siblings that have consented to participate.

My SIL ( wife of the brother who passed from ALS-like condition but did not have a diagnosis) has been in touch with Nailah and the medical school his body is donated to. They are going to be able to work together to have a sample sent to NU to process.

We have heard nothing more from the family of my SIL who passed May 24 with an ALS diagnosis, so we are letting that rest.
Thank you all for the advice, support, and just listening.

 

[lgelb]

Very sorry to hear about your dad, TK.

Best,
Laurie

 

[Tkhalaska]

Progress: The sample from my bil has arrived at NU and is in the process of being analyzed. One of the other ALS cases was seen at a teaching hospital and almost certainly has samples somewhere. He died prior to C9 being identified, so we are unsure if anything was retroactively tested for that from him.

Family tree: In addition to the numerous ALS cases mentioned in other posts, there are two cousins of my husbands generation that have an FTD diagnosis, another cousin with Charcot-Marie-Tooth, and another relative further removed that has SMA. He is a lineal blood descendant from one of the ALS cases.

Where are we going from here: First step is to try to get blood samples analyzed from the two persons living with FTD. It is not a priority of NU at the moment to look at the Charcot-Marie-Tooth and SMA cases, but my intuition tells me that these cannot be coincidental. There is some evidence that these conditions are all related, but not necessarily if the culprit it C9 which is most likely our case. Then again, we could be adding to the body of evidence. Genetic testing for others in the family is in a holding pattern until we see specifically what we have. If we do need to pay for the testing ourselves, I have been looking at Prevention Genetics.

Most of the family members are really on board with this. I am not going to put too much time into looking into additional testing until we see what we are dealing with. If it is an unusual or new mutation, it is very likely a research center will do the testing for us. If it is one of the more well known defects we may have to foot the bill.