FAQ - Hypophosphatemia, Familial
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Does anyone have an effective treatment to help with familial (essential) tremor?


What meds help? What makes it worse?
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Primodone, propanolol have both helped my and my daughter;s tremors.  (+ info)

Has anyone heard of FAP (Familial Adenomatous Polyposis) and has the disease..?


I have it, found out about 7 years ago, and had an ileo-rectal anastomosis, and need to go back in for another op or two and just wondering if there is anyone else who has this, or knows anyone, as the only people that I know that have this are my family. My hubby and I are planning another baby, but I has to much trouble with the first one (painwise) and wondering if hormones can speed up the growth of polyps? (hope this isn't to confusing... it's confusing me lol) Thanks = )
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I know of FAP, it is a painful disorder because of risks but birth control, pregnancy hormones etc should not interfere with FAP, feel free to ask your doctor or your OB, good luck  (+ info)

What it is: Progressive Familial Intrahepatic Cholestasis?


... and what is the best treatment for it?
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From the Cincinnati Children's Hospital website:

"Progressive familial intrahepatic cholestasis (PFIC) is a rare inherited condition in which children are unable to drain bile from the liver even though the large bile ducts are open (called cholestasis).

This usually begins in infants less than six months of age and may get worse very quickly. However, some children initially show signs later, even as late as the teen years, and the condition progresses more slowly. Nearly all children with progressive familial intrahepatic cholestasis will require treatment before age 30.

In many cases, progressive familial intrahepatic cholestasis leads to cirrhosis (irreversible scarring of the liver) and liver failure within the first 10 years of life. A liver transplant may be necessary for survival.

Treatment:

Some patients may respond to medical therapy, although surgical treatment is usually necessary for survival.

Surgical treatment used in children with progressive familial intrahepatic cholestasis includes liver transplantation for cirrhosis and partial external biliary diversion (PEBD).

Liver Transplantation

Liver transplantation may be used if partial external biliary diversion is ineffective or if the patient has liver cirrhosis. It is the only effective treatment of high-GGT PFIC.

Most progressive familial intrahepatic cholestasis disorders progress to end-stage liver disease and require liver transplantation. Treatment focuses on minimizing growth failure and decreasing discomfort as the child awaits liver transplantation. Survival rates for liver transplantation to treat progressive familial intrahepatic cholestasis are excellent.

Partial External Biliary Diversion (PEBD)

Partial external biliary diversion may be used as the first choice of treatment for patients who have not yet developed cirrhosis. This treatment helps reduce the circulation of bile acids in the liver in order to reduce complications and prevent the need for early transplantation in many patients.

This surgical technique involves isolating a segment of intestine 10 cm long for use as a biliary conduit (a channel for the passage of bile) from the rest of the intestine. One end of the conduit is attached to the gallbladder and the other end is brought out to the skin to form a stoma (a surgically constructed opening to permit the passage of waste).

Partial external biliary diversion is used for patients who are unresponsive to all medical therapy, especially older, larger patients. This procedure may not be of help to young patients such as infants. Partial external biliary diversion may decrease the intensity of the itching and abnormally low levels of cholesterol in the blood."  (+ info)

autism prevention is there is key factor involved in non-familial cases?


Autism is not a new disorder, what are the risk factors?
The male biological clock is no joke for the affected children.

Beverly Sills, she married Peter Greenough when he was at least 39 and had three normal children from a prior marriage. Their two children are extremely affected by his older paternal age it seems.
She met Greenough in Cleveland while on a 1955 tour with City Opera. "He winked, which I thought was pretty corny," Ms. Sills told The Christian Science Monitor in 1985, "but it worked." Greenough died last year.

Ms. Sills had three stepchildren from Greenough's previous marriage and two children with her husband: a son, Peter Jr., who is autistic and mentally retarded, and a daughter, Meredith, who suffers from multiple sclerosis and who is deaf.
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Recent studies suggest a link between the age of the father at conception and an increased risk for the child having autism. The older the man, the higher risk. Much like the risk of women of advanced maternal age having a child with Down Syndrome.

It is still being studied.  (+ info)

Has anyone been diagnosed with Familial Mediterreanean Fever? If so, how do you cope?


Familial Mediterranean Fever is a rare genetic disorder that mimics the symptoms of severe flu, chronic fatigue syndrome, and fibromyalgia.
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I certainly would prefer not to have it but...

I'm on Colchicine 1 mg a day. I once was on 1.5 mg a day (for 15 years) and I'm allowed to go up to 2 mg. That's the main thing. The crises are by far less frequent and less severe.

I purposedly losed weight because fat releases certain hormones linked to inflamation. It didn't help much for FMF, but did some wonders with girls.

I do not know why but certain food seems to help, others to be bad :

Bad : whole cheese especially when taken with beer. Dont' ask me why I was doing that.

Good : european, heavy, coffee, good, heavy, red wine. White wine does nothing. Alcools does not help - except for my mood.

I try to live a healthy life, and to do sport when I can.

A good thing to do is to learn when the crisis is coming and immediately take a second pill or half a pill (1mg, or 0.5 mg) on that very day. It wipes off some of the crises.

NB - I use the french brand of Cochicine. Seems to work better (Im french but I do not live in France). Colchimax, the one with some antidiarhetic in it does not work (on me, and some others).  (+ info)

Any tips to someone who suffers from "FAMILIAL MEDITERRANEAN FEVER"?


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Why does the idea of "family" and/ or "familial 'love'" disgust me?


The love/relationship between parent/chid, sibling/sibling, child/garndparent etc. seems to really disgust me. Could this be a symptom of something? I know I am not a sociopath.
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Maybe because you havent truly experience it yet.

I always thought having a kid would be a waste of money and time, but i got a younger brother that is pretty much like my kid and let me tell you, just watching him smile or seeing him experience something new just makes my day.

Wait until the time comes, youll understand.  (+ info)

xanthomata and familial hypercholesterolaemia?


does presence of xanthomata,arcus senilis and high ldl, low hdl is enough to suspect familial hypercholesterolaemia?

or is not sufficient..and curious, xanthomata and arcus senilis formation happens in times of high total cholesterol or just familal hypercholesterolamia?
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is there any permanent solution for the FAMILIAL MEDITERRANEAN FEVER; FMF>?


hi my brother was diagnosed with FAMILIAL MEDITERRANEAN FEVER; FMF i wonder if there any permanent solution other wise Colchicine ?>
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is mental illness familial or am i just blessed with a mad family?


There is definitely a genetic factor.  (+ info)

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