We have a diagnosis ETHAN!

[ADEE]

Its called Familial Mediterranean Fever, its a genetic disease that effects 1:73,000 Ashkenazi Jews (which is what my husband is) We are both of Eastern European decent which is also a biggie in this disease (it is something that both parents have to be "het" for). It causes frequent fast onset fevers, thats how it starts.. later on if gone untreated the disease progresses and patients eventually die of renal failure in serious cases.

He is on daily meds (cholchicine) and will be the rest of his life. The dr who thought it was FMF put him on daily meds on 4/30, he was having a few side effects from the drug and pulled him off it for three days (this past tues) with the instructions to restart meds on the third day at half dose (fri). we were told to "See what happens" Well, low and behold Fri morning Ethan had a fever, it was climbing from 99.9 to 102. I called the dr who had instructed us to take him off meds and let him know what was happening.. Ethan was repeating what has happened in the past. The dr exclaimed to us that this was a good thing, he was hoping that would happen, his hypothosis is correct and his reaction to being off the meds confirmed his possible diagnosis of FMF, aparently people with FMF who are taken off meds will actually trigger an episode of high fevers. He told us his fever should not reach 105 and should go away faster then 5-7dys, the meds would help it. So here we are on Sunday day three of the fever, his temp peaked at 103 instead of 105 and is slowly declining which means were on the tail end of it... only 3 days! Its cut his episode in half, for the first time this year he got through an episode without being hospitalized!

The only thing left to do now is the genetic testing to prove for certain it is FMF, but that is $1400 out of pocket! If we keep treating him as if he has the disease and his fevers either
A) go away all together
or
B) keep occurring at less frequency and severity we know for certain its FMF.

There isnt a whole lot of info on FMF but we have gotten some great resources to check out. Im so glad at last we know whats wrong with him, and the best part is its treatable!!

The pitfall however is Elliott is also "het" for FMF, however he should have no complications unless he has children with another person who is "het" for FMF.. so that too is a positive

[python.princess]

it's gotta be a huge relief to have answers finally! I'm glad it's something treatable!

[ADEE]

Thanks Melanie.. it really is!

[frankykeno]

Oh thank goodness at least you know now what you are dealing with and it is something that seems to be manageable for Ethan. You must be so relieved to finally know what's going on and not be constantly facing an unknown enemy!

[LadyOhh]

Ashley,

Thank goodness you now know what it is. I am very happy to hear that you have a diagnosis and a way of treatment. Mystery diseases pop up so often now a days, thank goodness for those Doctors who think out of the box.

Congratulations on that!!! I am so glad to hear it.

[starmom]

Hey Ash~ Way to go for Ethan!!!!!!!!!!!!!!!!!!!! And kudos to the docs for proving out the het and having the right combo of drugs available to treat! This is good news and I am so happy for your family

[tigerlily]

That's wonderful Ashley. It must be great to be able to know exactly what you are dealing with, and to have medications available to treat it. Sending love and hugs to you and your family!

[ADEE]

Thanks ladies!!

As many of you can understand as mothers its so difficult seeing your child fight to be well, feeling crummy all the time, going to countless doctors, half dozen hospital admissions, dozens of blood tests, getting stuck in the ankles, hands, exc... Its been a really tough year, im so great-full to finally see a light at the end of the tunnel and the piece of mind that we didnt give up, even when we were told to, we didnt.. we couldnt! Im so glad hes young enough, he shouldnt remember all thats happened to him. As long as we instill the importance of his medication in him, he should go on to live a completely normal life.

[Ladydragon]

I am so thrilled for you and your family and especially for Ethan. Having a child sick hurts any parent, but not knowing whats causing it has got to really be hard. Fingers crossed and prayers being sent your way that the fevers will go away.

[kc261]

What a relief it must be to finally know what is wrong with him! And I'm glad it sounds like it can be manged reasonably well.

You might want to consider going ahead and getting the genetic testing done so you'll KNOW the diagnosis is correct. If you can't afford it, there may be groups who will help pay for it. I'd investigate Jewish charities, since you say it is primarily found in people of Jewish descent.