1. < Brain & Nervous System

MPS 3 found as cause for my son’s dementia like symptoms

Posted by adah @adah, Jul 21, 2019

Just wanted to put this out here, in case someone else is going thru dr after dr to find a cause for their loved one who has an intellectual disability. My son has just been diagnosed Finally!!! He has a genetic disorder called MPS 3 B. That is short for Mucopolysaccharidoses.
His symptoms were severe outbursts
Confusion
Liver fibrosis
Weight loss
Lack of appetite
Insomnia
Seizures.
Sleep apnea and the list goes on....
This was found by Genetic testing.
I’m still learning about all of this, my son is 38 years old. And most people pass away by 20 yrs old.
So From my situation to yours, please consider human genetics, you will find a cause, maybe not a cure, as in my son’s situation, so don’t give up! Be persistent!!!
You know your loved one better than any Dr.

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Ethan McConkey, Moderator | @ethanmcconkey | Jul 21, 2019

HI @adah, thank you for sharing! It must feel great to have found a cause for your son's symptoms. Is there any treatment for this genetic disorder?

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1 reply
adah | @adah | Jul 21, 2019
In reply to @ethanmcconkey "HI @adah, thank you for sharing! It must feel great to have found a cause for..." + (show)
@ethanmcconkey

HI @adah, thank you for sharing! It must feel great to have found a cause for your son's symptoms. Is there any treatment for this genetic disorder?

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There is infusion gene therapy and/or bone marrow transplant, will know more after consulting with drs and genetic counselor.

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1 reply
cathy514 | @cathy514 | Jul 28, 2019

thank you for sharing was genetic testing expensive

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adah | @adah | Jul 28, 2019

Insurance covered it. Im sure it was expensive. The test looked at over 2600 genes.

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Lisa Lucier | @lisalucier | Aug 5, 2019
In reply to @adah "There is infusion gene therapy and/or bone marrow transplant, will know more after consulting with drs..." + (show)
@adah

There is infusion gene therapy and/or bone marrow transplant, will know more after consulting with drs and genetic counselor.

Jump to this post

Hi, @adah - getting a diagnosis finally for your son must be a relief. It sounds as though you have been a strong advocate for him.

Have you had your consult with the doctors and the genetic counselor you mentioned would follow the genetic testing? If so, will you share anything you learned you feel comfortable sharing?

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1 reply
adah | @adah | Aug 6, 2019
In reply to @lisalucier "Hi, @adah - getting a diagnosis finally for your son must be a relief. It sounds..." + (show)
@lisalucier

Hi, @adah - getting a diagnosis finally for your son must be a relief. It sounds as though you have been a strong advocate for him.

Have you had your consult with the doctors and the genetic counselor you mentioned would follow the genetic testing? If so, will you share anything you learned you feel comfortable sharing?

Jump to this post

Yes, We had follow up with genetic team at Childrens. The MPs lll B affects the brain and central nervous system. He has a missing enzyme that is critical for the body to break down waste. Since it can’t be excreted from the body, the waste destroys the organs. There is No Cure and no clinical trials at the present time. Going for a swallow test tomorrow, and echo of heart Friday. He will have a number of Drs.

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