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Sun, Aug 25 9:14am · Your Tips on How to Get Off to the Best Start with a New Specialist in Visiting Mayo Clinic

Yes there is a national rare disorder support group. It’s called mpssociety.org
Very very helpful.

Mon, Aug 12 6:56am · Your Tips on How to Get Off to the Best Start with a New Specialist in Visiting Mayo Clinic

Hi Colleen, I do think it’s important to ask what research they are doing or would they do research if you find you have a rare disorder. My son ended up being diagnosed by children’s hospital genetics with a rare disorder and the doctor he had been seeing for over 20 years told me, he didn’t know anything about that disorder and didn’t care to look it up. Genetic team reached out to him for a response after finding the disorder and as of today’s date he has not responded to them, going on 4th week. So from my experience, please ask the new specialist questions. I’ve had to move on to new doctor. It’s just sad for someone else that would come thru that doctor, and he could possibly have helped them. But Because he didn’t want to do the research, I had no choice to move on. I advocate for my mentally challenged son. Bottom line is find a doctor that does research and will correspond with other drs.

Tue, Aug 6 6:58am · MPS 3 found as cause for my son’s dementia like symptoms in Brain & Nervous System

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.

Sun, Jul 28 10:30am · MPS 3 found as cause for my son’s dementia like symptoms in Brain & Nervous System

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

Sun, Jul 21 8:22pm · MPS 3 found as cause for my son’s dementia like symptoms in Brain & Nervous System

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

Sun, Jul 21 5:06am · MPS 3 found as cause for my son’s dementia like symptoms in Brain & Nervous System

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.

Sun, Jun 23 6:34pm · Liver biopsy in Digestive Health

Just wondering if you were ever told you had sinus inflammation on catscan or mri? Before you were told you had Hepatic encephalopathy.

Tue, Jun 18 6:05pm · Liver biopsy in Digestive Health

Won’t do biopsy, said the fibrosure test was good enough. He’s still has low appetite getting endoscopy Jul