Re: Subject: Anyone else heard of this w/ mito? Anne

December 31, 2004

Hi Anne~ Thanks for the reply. The dr has not really told me what

we are going to do next but the genetic dr. said the hemo will do

what she thinks. We will talk to the hemo on Monday. The genetic dr

mentioned she might order an MRI but what would that look for related

to her low fibrinogen levels? Who knows! How was your son's

fibrinogen low levels found? What mito dr. so you see and has he

been the one to say it could be related to mito? Sorry for all the

questions. I just do not know how much my dr. knows about mito

compared to the ones in Atlanta & Cleveland. Thanks again for the

reply and take care~Kim

- In Mito , " Anne K Juhlmann " <juhlmann@e...>

wrote:

> Hi Kim:

> My little boy has low fibrinogen levels. He also has something

called dysfibrinogenemia which means that the fibrinogen he does make

is shaped 'wrong " and therefore it does not work as it should to help

him clot.

>

> Treatment for Sam has been cryoprecipitate infusions. " Cryo " , as it

is referred to is a portion of plasma that precipitates out when

thawed after it has been frozen. It is very rich with clotting

factors and fibrinogen. It is a blood product. With infusions we are

able to raise Sam's fibrinogen levels and also replace the fibrinogen

he makes that does not work.

>

> In Sam's case we have to treat it because he bleeds uncontrollably

(he has other problems that cause bleeding aside from the fibrinogen

issue). For your daughter, if she is not actively bleeding, they

may feel it is best to just follow her levels and watch. What does

the hematologist say?

>

> Ours assume it is somehow all related to Sam's mito. The liver,

like any organ, can be affected by mito. The scans of the liver

could show anything - fatty liver, enlarged, damaged...however, the

scans may not show anything. The liver does make fibrinogen. Have

they looked at things like her albumin level or her liver dependent

clotting factors to see if these are affected as well? These are also

made by the liver and would be affected if her liver is less than

perfect.

>

> I hope this helps.

>

> Anne Juhlmann

>

> _____________________________

>

> Message: 14

> Date: Fri, 31 Dec 2004 03:36:05 -0000

> From: " mkbarrow2 " <mkbarrow@v...>

> Subject: Anyone else heard of this w/ mito?

>

> My dauhgter Madison(6yrs) has " soft " signs of mito and her labs

have

> shown some indicators but nothing strong. I took her to the ped.

dr

> b/c she was bruising and we had test done. The clotting test came

> back abnormal and we were sent to the hemo dr. She ordered more

> tests and Madison has very low fibrinogen levels. The dr.s (both

> genetic and hemo) do not know why this test is so low. We now are

to

> have an ultrsound of her liver but I have been told it is " probaly

> not " related to mito. I was wondering if any of you have heard of

> fibrinogen. When the liver is affected from mito, how is it? We

> are having a fasting study done Monday to see if her seizures are

> metabolically induced. She is on zonegran to control the seizures

> that mainly happened in her sleep. The genetic dr. told me the

> fibrinogen might be something else and has no connection to

Madison's

> other issues. Just wanted to get some input from other parent's

that

> know mito. Thanks for any input! Kim

December 31, 2004