Do i require a geneticists consultation?

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Anjum nazir

Active member
Joined
Dec 31, 2017
Messages
33
Reason
PALS
Diagnosis
07/2018
Country
IN
State
JK
City
Srinagar
My mother and two maternal aunts all the three died of mnd almost at same age of 61 years. Nobody else was earlier diagnosed of the disease. None is afflicted at present as well. Since it has hapened to female members only and i am a mother to two daughters. I am distraught . I feel i have no future. I feel i am in the clutches of death and my daughters are also going through the same grind which my mother went through. She remained bed ridden for 17 long years....lost muscle after muscle...it begun from left leg and ultimately paralysed her complete body....before succumbing to pneumonia and sepsis....it is a helpless state which a person never wants to happen to any hhman being...
Can anybody suggest what should we do to save our family....
 
I am sorry for your family history.

The major FALS genes are not sex linked. However they are so called autosomal dominant.

Your chance of inheriting the family genetic defect is 50 percent. You have an equal chance of being unaffected. If you did not inherit the defect your children can not inherit it. If you do have it each then has a 50 percent chance.

Without a living affected family member gene testing is not practical ( see the first post of this section). I do not know what the likely genetic culprits are if your ethnicity reflects your location.

There is a lot of work being done in gene therapy that is very promising. Even if you carry the defect there is much hope. Not all defects are fully penetrant. That means some people live a normal life despite being a carrier. Therapies for gene silencing are in development and treatments for all forms of ALS are being sought
 
Anjum, I am interested. Was your family affected by the 1984 poisoning at the Union Carbide plant?
 
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