Need advice on a Medical Diagnosis

JatMat

JatMat

Joined
Aug 26, 2006
Messages
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A good friend of mine has recently been diagnosed with

1: CVID Common Variable Immune Deficiency
2: Hyperactive (elevated) Factor VIII (8)

They are RARE disorders and I was hoping someone in our large community had some experience or knowledge of the problems and treatment. She is under a Doctors care, we just want to know from others what the family is facing.

Thank You for taking time to respond. We have already done the normal online research, but so much of the information is over our heads. That is why we are looking for real life experiences.

Thanks Again,
Jim
 
If she has a RARE medical problem she may have to find a RARE doctor !! Make sure she does as much research as possible about the problems on the internet etc .Ask questions, challenge the doctor .Be careful about being treated for symtoms rather than being treated for the problem. Look into non-traditional mediciine also.
 
I have a rare disease as well. There are probably half a dozen specialists in the country. I have been to see or talk to most of them.

If it is rare most will be conducting research and would be happy to provide help and follow her over the phone or through email even if she is not a patient and lives all the way across the country.

I would suggest contacting as many people as she can. Also, it is good to find a local Dr. who is knowledgeable but willing to say "I don't know" and take the time to look into it and consult with other doctors.

There is also probably a website with others that you can interact with. A good place to start looking is the National Organization of Rare Diseases (NORD) website.

Good luck!
 
It basically leads to two things

1. CVID - increased rate of infection over normal due to lower amounts
of antibodies than normal

2. Factor 8 - your blood clots more easily increasing your chance of thrombosis. i.e. leg clots stroke etc.

Both conditions should be monitored and followed by specialists in immunology and hematology.

In many cases the two syndrome are linked and both are treated with regular infusions (IV's) of high dose immunoglobulins.
 
Thanks for the replies, confirms path the doctor has taken, she starts infusions this next week.
Jim
 
Good to see you posting again, I do hope you are some better yourself.
Thanks for the prayers Suz,
Jim
 
I am hanging on there. I am a wee bit better, but still not great and in major pain.

My heart goes out to your friend. There is nothing like the power of prayer!!
 
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