Re: Horizon frozen muscle mtDNA analysis

[Guest guest]

I think it was 1 1/2 years before my sister got all her results in 1997

in Atlanta. I do think they are much busier now too. These are NOT

automated tests like local labs get, so they are very very labor

intensive from what I recall.

M wrote:

I have been a rather quiet member of

the list for quite some time. My daughter, Jenn, wrote for a bit

months ago. I stayed away in hopes she would continue to use this list

as a means of support other than mom. As it appears she is not, I

desperately need to.

For those of you who have had frozen

muscle analysis for mtDNA testing done at Horizon........could you

PLEASE let me know how long it took?

Frozen muscle tissue from my son,

(7) was sent to Horizon, at the request of Dr. Cohen, in April

of 2002 for the purpose of mtDNA testing.

Payment in full was received by

Horizon in May of 2002.

We made infrequent phone calls to

check on status. Each time we were told it would be several more

months. We would "go away" for those several months.

In October of 2003 I was told that

they had begun testing. I was told that numerous polymorphisms and

changes not seen in the general population had been found. I was

further told that we should hear from them soon after the first of the

year (January 2004).

We've heard nothing. I've left

several messages but have not received a call back.

We are a family with 8 suspected

Mito members (ages 46 to 4) ranging from mild to severe. Symptoms

continue and we are suffering.

I'm now feeling like I was too

patient in the beginning and my phone calls now make me look like a

pest.

This is not meant to be derogatory

toward Horizon.

If anyone call tell me they have

been waiting longer than we have it will calm my nerves. My patience is

a bit thin at the moment.

Thanks so much for any input you can

share.

Hugs,

Marie

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[Guest guest]

This is absolutely correct, . This testing is not anything like you see done in a normal lab. The doctor is working to find a needle in a haystack. Although I know it's difficult, people need to be patient with this process in order to get the right answers.

You don't want the wrong ones.

Marie - with 8 suspected members - our family definately can identify. We have one solid diagosis based on muscle biopsy and 10 additional members diagnosed based on symptoms. Dr Shoffner said in his comments after the biopsy that any family member who demonstrates symptoms should be diagnosed without need for biopsy (at that time) because the evidence is so strong. We do think that down the road, there will be at least one more biopsy though.

Alice

Re: Horizon frozen muscle mtDNA analysis

I think it was 1 1/2 years before my sister got all her results in 1997 in Atlanta. I do think they are much busier now too. These are NOT automated tests like local labs get, so they are very very labor intensive from what I recall.M wrote:

I have been a rather quiet member of the list for quite some time. My daughter, Jenn, wrote for a bit months ago. I stayed away in hopes she would continue to use this list as a means of support other than mom. As it appears she is not, I desperately need to.

For those of you who have had frozen muscle analysis for mtDNA testing done at Horizon........could you PLEASE let me know how long it took?

Frozen muscle tissue from my son, (7) was sent to Horizon, at the request of Dr. Cohen, in April of 2002 for the purpose of mtDNA testing.

Payment in full was received by Horizon in May of 2002.

We made infrequent phone calls to check on status. Each time we were told it would be several more months. We would "go away" for those several months.

In October of 2003 I was told that they had begun testing. I was told that numerous polymorphisms and changes not seen in the general population had been found. I was further told that we should hear from them soon after the first of the year (January 2004).

We've heard nothing. I've left several messages but have not received a call back.

We are a family with 8 suspected Mito members (ages 46 to 4) ranging from mild to severe. Symptoms continue and we are suffering.

I'm now feeling like I was too patient in the beginning and my phone calls now make me look like a pest.

This is not meant to be derogatory toward Horizon.

If anyone call tell me they have been waiting longer than we have it will calm my nerves. My patience is a bit thin at the moment.

Thanks so much for any input you can share.

Hugs,

Marie

[Guest guest]

Marie

My DNA testing was done by the lab Dr. Shoffer worked at in the Children's

Hospital, not the present lab. It was over a year and a half once they

started on the DNA work. It was a very complete report. He did contact me to

have blood sent from other family members. He found some polymorphisms, but

they were determined not to be significant as they were homogenious, not

hetergenious. They were unable to find our defect, but feel it is in the

mtDNA from the family pattern. We have 8 members known or suspected of

having mito. Three of us have had muscle biopsies. My younger son had one

but the mito testing was not done on it.

laurie

>

> Reply-To:

> Date: Tue, 10 Feb 2004 05:30:55 -0500

> To: < >

> Subject: Horizon frozen muscle mtDNA analysis

>

> I have been a rather quiet member of the list for quite some time. My

> daughter, Jenn, wrote for a bit months ago. I stayed away in hopes she would

> continue to use this list as a means of support other than mom. As it

> appears she is not, I desperately need to.

>

> For those of you who have had frozen muscle analysis for mtDNA testing done at

> Horizon........could you PLEASE let me know how long it took?

>

> Frozen muscle tissue from my son, (7) was sent to Horizon, at the

> request of Dr. Cohen, in April of 2002 for the purpose of mtDNA testing.

>

> Payment in full was received by Horizon in May of 2002.

>

> We made infrequent phone calls to check on status. Each time we were told it

> would be several more months. We would " go away " for those several months.

>

> In October of 2003 I was told that they had begun testing. I was told that

> numerous polymorphisms and changes not seen in the general population had been

> found. I was further told that we should hear from them soon after the first

> of the year (January 2004).

>

> We've heard nothing. I've left several messages but have not received a call

> back.

>

> We are a family with 8 suspected Mito members (ages 46 to 4) ranging from mild

> to severe. Symptoms continue and we are suffering.

>

> I'm now feeling like I was too patient in the beginning and my phone calls now

> make me look like a pest.

>

> This is not meant to be derogatory toward Horizon.

>

> If anyone call tell me they have been waiting longer than we have it will calm

> my nerves. My patience is a bit thin at the moment.

>

> Thanks so much for any input you can share.

>

> Hugs,

> Marie

>

>