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Re: App with Dr. Shoffner

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Hi Krista,

We're going through the same thing except that Asher (3) had his biopsy done in mid-January. I e-mailed at Dr. Shoffner's last week just to ask when I should expect the results (mid-April will be 12 weeks). She was very nice and told me that Asher's last lab test was being run on 4/8 and I should expect a report in 2-3 weeks following that. Her e-mail address is: jessicahicks@...

Don't hesitate to e-mail her. They don't seem to mind at all.

Anne R

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Hi Krista,

We're going through the same thing except that Asher (3) had his biopsy done in mid-January. I e-mailed at Dr. Shoffner's last week just to ask when I should expect the results (mid-April will be 12 weeks). She was very nice and told me that Asher's last lab test was being run on 4/8 and I should expect a report in 2-3 weeks following that. Her e-mail address is: jessicahicks@...

Don't hesitate to e-mail her. They don't seem to mind at all.

Anne R

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Hi Krista:

Waiting is so hard, but with mito testing you get a little used to it. Hailey had her biopsy in Atlanta the last day of Jan 2003. We received the report the week of her birthday April 23rd. We call her metabolic mad here in Boston and were in to discuss the results the following week. I have a friend who received the initial report w/ diagnosis and is still waiting on the DNA testing (2 yrs 2 months).

It "should" arrive anytime now. If it is really, really driving you crazy then call to check in with them. I called to check on Hailey's because my other daughter had abnormal labs during an illness and I was panicked that she had the same thing.

I hope you hear something very soon and wish you the best.

Kerry

Plymouth, MAHailey 4 yrs mito & fod

Brenna 3 yrs mito & fod

-----Original Message-----From: angelivy_80 Sent: Monday, April 05, 2004 12:22 AMTo: Mito Subject: App with Dr. ShoffnerHi, my name is Krista I have a son who is five and we were told in 2000 that he has CP and has abnormal white matter and two years ago we found out that it is progressive and most of the damage was in the cerebellum. That's when his nero told us that she thought it was Mito. We did a muscle byopsy that summer in Grand Rapids MI(june of 2002)and it took a year to get everything back. It told us nothing. (it was frozen) The doc's then said that they were going to send everything to Dr. Shoffner. We saw Dr.Shoffner in December and did another muscle byopsy he told us that it would take 8 to 12 weeks for the results from his muscle byopsy to come back. I'm sure you all have felt the same way but it will be 13 weeks on the 17th of April and I am checking the mail hoping to get something or when the phone rings I hope that it might be his office wanting to make an appt to come back and talk with him about the results. My question to any body who wants to respond is, how long did you wait and how were you contacted by Dr. Shoffner? Was it by phone, mail, or through your local nero. Should I be calling by now to see how things are progressing or should I wate? I really hope that it doesn't take another year to get stuff back from the labs. He also wanted to look into a couple of other degenerative disease. Is there anyone that can help me with this? Thanks so much.KristaMother of Skyler (5) not yet diagnosed Please contact mito-owner with any problems or questions.

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Hi Krista:

Waiting is so hard, but with mito testing you get a little used to it. Hailey had her biopsy in Atlanta the last day of Jan 2003. We received the report the week of her birthday April 23rd. We call her metabolic mad here in Boston and were in to discuss the results the following week. I have a friend who received the initial report w/ diagnosis and is still waiting on the DNA testing (2 yrs 2 months).

It "should" arrive anytime now. If it is really, really driving you crazy then call to check in with them. I called to check on Hailey's because my other daughter had abnormal labs during an illness and I was panicked that she had the same thing.

I hope you hear something very soon and wish you the best.

Kerry

Plymouth, MAHailey 4 yrs mito & fod

Brenna 3 yrs mito & fod

-----Original Message-----From: angelivy_80 Sent: Monday, April 05, 2004 12:22 AMTo: Mito Subject: App with Dr. ShoffnerHi, my name is Krista I have a son who is five and we were told in 2000 that he has CP and has abnormal white matter and two years ago we found out that it is progressive and most of the damage was in the cerebellum. That's when his nero told us that she thought it was Mito. We did a muscle byopsy that summer in Grand Rapids MI(june of 2002)and it took a year to get everything back. It told us nothing. (it was frozen) The doc's then said that they were going to send everything to Dr. Shoffner. We saw Dr.Shoffner in December and did another muscle byopsy he told us that it would take 8 to 12 weeks for the results from his muscle byopsy to come back. I'm sure you all have felt the same way but it will be 13 weeks on the 17th of April and I am checking the mail hoping to get something or when the phone rings I hope that it might be his office wanting to make an appt to come back and talk with him about the results. My question to any body who wants to respond is, how long did you wait and how were you contacted by Dr. Shoffner? Was it by phone, mail, or through your local nero. Should I be calling by now to see how things are progressing or should I wate? I really hope that it doesn't take another year to get stuff back from the labs. He also wanted to look into a couple of other degenerative disease. Is there anyone that can help me with this? Thanks so much.KristaMother of Skyler (5) not yet diagnosed Please contact mito-owner with any problems or questions.

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> Hi, my name is Krista I have a son who is five and we were told in

> 2000 that he has CP and has abnormal white matter and two years ago

> we found out that it is progressive and most of the damage was in

the

> cerebellum. That's when his nero told us that she thought it was

> Mito. We did a muscle byopsy that summer in Grand Rapids MI(june of

> 2002)and it took a year to get everything back. It told us nothing.

> (it was frozen) The doc's then said that they were going to send

> everything to Dr. Shoffner. We saw Dr.Shoffner in December and did

> another muscle byopsy he told us that it would take 8 to 12 weeks

for

> the results from his muscle byopsy to come back. I'm sure you all

> have felt the same way but it will be 13 weeks on the 17th of April

> and I am checking the mail hoping to get something or when the

phone

> rings I hope that it might be his office wanting to make an appt to

> come back and talk with him about the results. My question to any

> body who wants to respond is, how long did you wait and how were

you

> contacted by Dr. Shoffner? Was it by phone, mail, or through your

> local nero. Should I be calling by now to see how things are

> progressing or should I wate? I really hope that it doesn't take

> another year to get stuff back from the labs. He also wanted to

look

> into a couple of other degenerative disease. Is there anyone that

> can help me with this?

>

> Thanks so much.

>

> Krista

> Mother of Skyler (5) not yet diagnosed

hi krista!

my name is davonne and i have a 16month old daughter who just seen

dr.shoffner on march 30,2004. he did not do a muscle biopsy, just a

office visit. he didnt feel a muscle biopsy was needed because karlee

has severe grey and white matter disease. she had a muscle biopsy

here {knoxville,tn} on january 14 and it was sent to dr. shoffner

frozen and i got her results from our neuro here on march 12, he said

she has complex 1 and 4 defeciency. when we seen dr.shoffner last

week he didnt feel like there would be any helpful treatment. then on

this past friday he called and left a message on my machine that he

wanted to do a fresh biopsy. so i feel like i am on a huge

rollercoaster mentally and physically. i would call every day to see

if the results were back. i wish you the best. i dont know much

about this disease, i am trying to find out everything i can.

good luck,

davonne

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Hi, My younger son was first diagnosed with CP also. My two sons had

muscles biopies on 12/18/2003 and we did not get a final response

until March 25, 2003. It is hard to wait, but sometimes the muscle

samples go out to several different labs..

Hang in there...

Marie

> Hi, my name is Krista I have a son who is five and we were told in

> 2000 that he has CP and has abnormal white matter and two years

ago

> we found out that it is progressive and most of the damage was in

the

> cerebellum. That's when his nero told us that she thought it was

> Mito. We did a muscle byopsy that summer in Grand Rapids MI(june

of

> 2002)and it took a year to get everything back. It told us

nothing.

> (it was frozen) The doc's then said that they were going to send

> everything to Dr. Shoffner. We saw Dr.Shoffner in December and did

> another muscle byopsy he told us that it would take 8 to 12 weeks

for

> the results from his muscle byopsy to come back. I'm sure you all

> have felt the same way but it will be 13 weeks on the 17th of

April

> and I am checking the mail hoping to get something or when the

phone

> rings I hope that it might be his office wanting to make an appt

to

> come back and talk with him about the results. My question to any

> body who wants to respond is, how long did you wait and how were

you

> contacted by Dr. Shoffner? Was it by phone, mail, or through your

> local nero. Should I be calling by now to see how things are

> progressing or should I wate? I really hope that it doesn't take

> another year to get stuff back from the labs. He also wanted to

look

> into a couple of other degenerative disease. Is there anyone that

> can help me with this?

>

> Thanks so much.

>

> Krista

> Mother of Skyler (5) not yet diagnosed

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