Re: age of diagnosis

[Guest guest]

At 's age they will tend to refer to the deficiency in a " transient " nature.

He is implying in the letter that she

has an antibody problem now but that it could progress to involve other immune

functions. Some IgA patients progress

into CVID (IgG, IgA and/or IgM deficiency with an antibody problem). He is

implying (IMHO) that she may progress into

more areas being deficient.

Macey was not given the actual diagnosis of CVID on paper until she was 5.

Before that it was " undetermined b-cell

dysfunction " .

Ursula Holleman

mom to (10 yrs old) and Macey (7 yr. old with CVID, asthma, sinus disease,

GERD, Diabetes Insipidus, colonic

inertia)

http://members.cox.net/maceyh

Immune Deficiency Foundation's 2003 National Conference

http://www.execinc.com/idf/

Immune Deficiency Foundation - Peer Contact for GA

http://www.primaryimmune.org

/

[Guest guest]

,

Honestly, I've never been typed, I was never formally diagnosed, CMT runs in the

family and what the insurance industry didn't know couldn't hurt me. However it

was obvious that I had it, my gait had been corrected with I was a toddler and

aside from being a klutz and not athletic at all, I didn't really have any

other symptoms. When my dad was diagnosed (I was 18)it was sort of an aha

moment.

I sought no other treatment, because there really was none at the time. I got

into Adelle in a big way in the 70's that seems to have slowed the

progression of my case. I was living in South Florida so I was pretty active all

year round with no exposure to extreme cold. My dad was wearing AFOs on both

feet at this age (57) I don't need them yet. I don't know that having myself

typed at this age would accomplish anything. I've been pretty lucky it could

have easily been far worse.

Ed

[Guest guest]

Ed - thanks for your input. You have been very blessed and I pray that your

condition does not progress!

Both of my boys are adopted, and the medical information for 's

birthfather is non-existent. We had no way of knowing why his gait was so

altered at an early age and it wasn't from his birthmothers side of the family

as far as we knew. After his heel cord extension surgery at the age of 5 his

gait improved for about a year- to what would be considered normal...then slowly

he started to pull up onto his toes again. Then his hips and his arms and legs

seemed to not work in any kind of rythym at all.

When he had the surgery a muscle biopsy was done which showed atrophy...but the

neurologist didn't seem overly concerned so it wasn't pursued. Later when he

started with the altered gait again we went to a different neurologist who

reviewed everything and immediately sent us for the genetic testing...and the

rest is what it is.

Living in Central Florida he does much better in the warm weather than the cold

also. 's biggest issues are how quickly he fatigues and how much his legs

seem to hurt alot of the day.

We just take it all one day at a time....thanks again

[Guest guest]

,

His legs are going to hurt, especially during growth spurts. I used to be up

all night screaming at times. Try feeding him chelated cal mag zinc and cod

liver oil ampules(vitamin A and D) and vitamin e They are complementry

components lacking one will cause the others not to be digested. Any way calcium

acts as natural pain reliver by relaxing the muscles. After surgery it helps a

lot too. though you usually have to ask for and guzzle a lot of milk because

calcium pills are considered treatment and milk is considered a snack. A nurse

will give you milk and ignore requests for calcium pills. Anyway, get him

relaxed enough to get a nite's sleep that seems to resolve the pain more than

anything else.

Ed