Re: Dr.Schoffner/help please

[Guest guest]

Dawn,

My son had a muscle biopsy, skin biopsy, CSF and blood and urine tests with Shoffner in January. They were incredibly helpful in giving me numbers for angelflight (free transportation) and to Mc House where we stayed and ate for free. Also, Shoffner's assistant, , is fabulous and she got everything ok through insurance. Typically, in the 2 day visit, Dr. S will meet for you for 2 hours and then the next day schedule whatever procedures he deems necessary for dx (typically, a muscle biopsy, skin biopsy and the rest of those I wrote about). I was very impressed with his professionalism, his kindness, and his knowledge. The wait for results is long (at least 12 weeks) but, from what I hear, well worth it.

Good luck.

Anne R

[Guest guest]

hi dawn,

we had a wonderful experience with dr. shoffner and his office.

my daughter had her muscle biopsy done by him two years ago and once

he had her records and agreed to doing the biopsy, his office

arranged everything from our flight, to our staying at the ronanld

mcdonald house, to having insurance preapprove the visit, surgery,

etc.

they flew us via angelflight. (nonprofit organization where private

individuals donate their time and airplanes and fly families whose

children are in need) what a great group of people.

we stayed at ronald mcdonald house in atlanta and that was also a

wonderful experience.

please feel free to email me privately with any questions.

bethany

mom to brennan 7, palmer & anna grace (leighs) 4

> I am looking for help from anyone who has seen Dr.Schoffner.

> 's doctor has just spoken with him. He received some of

> 's samples from her latest tests and still cannot find the

> mito link (DNA deletion etc.)

> He wants to see us. The whole family (4 of us). He says most

> insurances cover this. He takes no money up front. I would like to

> hear experiences from anyone who has done this.

> Do they help set up anything other than the visit? What can I

> expect during the two days we are there? Who will we see? What

will

> they do?

> If we are going to do this (financially I don't know if I can), I

> need to know what plan for. Are there any agencies in this country

> that help with travel for those who cannot financially do this

kind

> of thing on there own?

> This is frustrating. I know we have to do this. How can I say no?

> But I am in the middle of a divorce and have no money. I cannot

> count on my STBX to come through to help financially. But what if

> this is the key to my family's problems, and we don't go?

>

> Any advice or help would be appreciated.

>

> Dawn Myers,(dysautonomia,POTS,hypogammaglobulinemia,

> migraines,CFS)

> Mom to:

> (4)Complex III/IV ? Mito

> bone marrow failure

> hypogammaglobulinemia

> cardiomyopathy

> GAIII

> dysautonomia

> fatty liver

> autistic-like tend.

> Macrocephaly

> Drew (13) Dysautonomic sx

> hypoglycemia

> Molly(2.7)dysautonomic sx.

> hypoglycemia ?

>

> Thanks for all of the birthday wishes for !!!

[Guest guest]

hi dawn,

we had a wonderful experience with dr. shoffner and his office.

my daughter had her muscle biopsy done by him two years ago and once

he had her records and agreed to doing the biopsy, his office

arranged everything from our flight, to our staying at the ronanld

mcdonald house, to having insurance preapprove the visit, surgery,

etc.

they flew us via angelflight. (nonprofit organization where private

individuals donate their time and airplanes and fly families whose

children are in need) what a great group of people.

we stayed at ronald mcdonald house in atlanta and that was also a

wonderful experience.

please feel free to email me privately with any questions.

bethany

mom to brennan 7, palmer & anna grace (leighs) 4

> I am looking for help from anyone who has seen Dr.Schoffner.

> 's doctor has just spoken with him. He received some of

> 's samples from her latest tests and still cannot find the

> mito link (DNA deletion etc.)

> He wants to see us. The whole family (4 of us). He says most

> insurances cover this. He takes no money up front. I would like to

> hear experiences from anyone who has done this.

> Do they help set up anything other than the visit? What can I

> expect during the two days we are there? Who will we see? What

will

> they do?

> If we are going to do this (financially I don't know if I can), I

> need to know what plan for. Are there any agencies in this country

> that help with travel for those who cannot financially do this

kind

> of thing on there own?

> This is frustrating. I know we have to do this. How can I say no?

> But I am in the middle of a divorce and have no money. I cannot

> count on my STBX to come through to help financially. But what if

> this is the key to my family's problems, and we don't go?

>

> Any advice or help would be appreciated.

>

> Dawn Myers,(dysautonomia,POTS,hypogammaglobulinemia,

> migraines,CFS)

> Mom to:

> (4)Complex III/IV ? Mito

> bone marrow failure

> hypogammaglobulinemia

> cardiomyopathy

> GAIII

> dysautonomia

> fatty liver

> autistic-like tend.

> Macrocephaly

> Drew (13) Dysautonomic sx

> hypoglycemia

> Molly(2.7)dysautonomic sx.

> hypoglycemia ?

>

> Thanks for all of the birthday wishes for !!!

[Guest guest]

Hi Dawn! I just wanted to write a quick note and say that Dr.

Shoffner's assistant, , is one of the best. She can help

arrange everything. I call her at least twice a week to pan out our

visit (which will not happen if our insurance dosen't approve). We

were told by our EI that the Easter Seals will help pay for our

travel to and from Atlanta (we live about 2 hours away in Greenville,

SC). Easter Seals will not help pay for the procedure itself, but

will gladly help with travel. We could also stay at the

Mc house during our trip. will help you with

everything. Just talk to her.

Best of Luck!

Sharon, mom to Hailey, 2 1/2, suspected Mito

[Guest guest]

Hi Dawn! I just wanted to write a quick note and say that Dr.

Shoffner's assistant, , is one of the best. She can help

arrange everything. I call her at least twice a week to pan out our

visit (which will not happen if our insurance dosen't approve). We

were told by our EI that the Easter Seals will help pay for our

travel to and from Atlanta (we live about 2 hours away in Greenville,

SC). Easter Seals will not help pay for the procedure itself, but

will gladly help with travel. We could also stay at the

Mc house during our trip. will help you with

everything. Just talk to her.

Best of Luck!

Sharon, mom to Hailey, 2 1/2, suspected Mito

[Guest guest]

Hi,

2 yrs ago my husband and I took our then 2 yr old to Dr. Schoffner.

He was great. During our initial exam he took the time to explain

mito and all possible genetic transmission modes. He did it in

english instead of medical jargon. We have a modest income and

thankfully our insurance picked up 90%. The other 10% was paid on a

payment schedule set up by his office. We flew angleflight and it

was incredible. The volunteers involved are truly angels. The only

drawback is there is a minimum distance you have to be before

angleflight will take you. The Mc house was great. We

met many supportive people in our 3 night stay. Although I of

course wish we weren't dealing with mito, it really was a life

changing experience. One word of caution- although the dx of

complex I only took 4 months, the genetic testing took 2 yrs. Even

after waiting, we only know that it is not a mtDNA transmission. We

will never know which gene or if it was autosomal recessive or

dominent. But all in all the trip was still worth it. Lots of good

info from the doc in language my husband and I could understand.

> I am looking for help from anyone who has seen Dr.Schoffner.

> 's doctor has just spoken with him. He received some of

> 's samples from her latest tests and still cannot find the

> mito link (DNA deletion etc.)

> He wants to see us. The whole family (4 of us). He says most

> insurances cover this. He takes no money up front. I would like to

> hear experiences from anyone who has done this.

> Do they help set up anything other than the visit? What can I

> expect during the two days we are there? Who will we see? What

will

> they do?

> If we are going to do this (financially I don't know if I can), I

> need to know what plan for. Are there any agencies in this country

> that help with travel for those who cannot financially do this

kind

> of thing on there own?

> This is frustrating. I know we have to do this. How can I say no?

> But I am in the middle of a divorce and have no money. I cannot

> count on my STBX to come through to help financially. But what if

> this is the key to my family's problems, and we don't go?

>

> Any advice or help would be appreciated.

>

> Dawn Myers,(dysautonomia,POTS,hypogammaglobulinemia,

> migraines,CFS)

> Mom to:

> (4)Complex III/IV ? Mito

> bone marrow failure

> hypogammaglobulinemia

> cardiomyopathy

> GAIII

> dysautonomia

> fatty liver

> autistic-like tend.

> Macrocephaly

> Drew (13) Dysautonomic sx

> hypoglycemia

> Molly(2.7)dysautonomic sx.

> hypoglycemia ?

>

> Thanks for all of the birthday wishes for !!!

[Guest guest]

Dr Schoffner diagnosed our son 6 years ago. At that time we were told

it was not the mtDNA and it wasn't certain if it was recessive genetic

trait or spontaneous mutation. On Presidents Day, this year, I got a

phone call from Dr. Schoffner. I felt stunned. We had not talked to

him in 6 years. He asked how we were doing. How was my health. How

was the health of my other non-affected child. This made me really

nervous. He asked if we could come in again and give some blood.

This is what he explained to me briefly on the phone and more in depth

in person (using the infamous dry erase board-those of you who have

seen him know what I mean). When they look at the mtDNA there are

many mutations. Some they know cause certain characteristics of the

disease; some are benign; and the third group is refered to as

" provisional. " This means they have not seen this mutation in enough

people to make a determination if it has an affect. My son has one of

these " provisional " mutations that they have now seen in about 5

people. They are asking that the families of these five people give

blood samples so further research can be done. We agreed to do it and

my son, Matty , my mom and I all gave blood samples last week. It

will be a couple of months before we meet with Schoffner again for a

follow up. He explained that as the research progresses they

sometimes go back and take another look and apply new information to

unanswered questions. I don't believe anything we learn will

necessarily be helpful to our situation but we chalk it up to research

and hope that it will be helpful to someone in the future. I'll let

you know what we find out.

Anne

[Guest guest]

Dr Schoffner diagnosed our son 6 years ago. At that time we were told

it was not the mtDNA and it wasn't certain if it was recessive genetic

trait or spontaneous mutation. On Presidents Day, this year, I got a

phone call from Dr. Schoffner. I felt stunned. We had not talked to

him in 6 years. He asked how we were doing. How was my health. How

was the health of my other non-affected child. This made me really

nervous. He asked if we could come in again and give some blood.

This is what he explained to me briefly on the phone and more in depth

in person (using the infamous dry erase board-those of you who have

seen him know what I mean). When they look at the mtDNA there are

many mutations. Some they know cause certain characteristics of the

disease; some are benign; and the third group is refered to as

" provisional. " This means they have not seen this mutation in enough

people to make a determination if it has an affect. My son has one of

these " provisional " mutations that they have now seen in about 5

people. They are asking that the families of these five people give

blood samples so further research can be done. We agreed to do it and

my son, Matty , my mom and I all gave blood samples last week. It

will be a couple of months before we meet with Schoffner again for a

follow up. He explained that as the research progresses they

sometimes go back and take another look and apply new information to

unanswered questions. I don't believe anything we learn will

necessarily be helpful to our situation but we chalk it up to research

and hope that it will be helpful to someone in the future. I'll let

you know what we find out.

Anne

[Guest guest]

Dr Schoffner diagnosed our son 6 years ago. At that time we were told

it was not the mtDNA and it wasn't certain if it was recessive genetic

trait or spontaneous mutation. On Presidents Day, this year, I got a

phone call from Dr. Schoffner. I felt stunned. We had not talked to

him in 6 years. He asked how we were doing. How was my health. How

was the health of my other non-affected child. This made me really

nervous. He asked if we could come in again and give some blood.

This is what he explained to me briefly on the phone and more in depth

in person (using the infamous dry erase board-those of you who have

seen him know what I mean). When they look at the mtDNA there are

many mutations. Some they know cause certain characteristics of the

disease; some are benign; and the third group is refered to as

" provisional. " This means they have not seen this mutation in enough

people to make a determination if it has an affect. My son has one of

these " provisional " mutations that they have now seen in about 5

people. They are asking that the families of these five people give

blood samples so further research can be done. We agreed to do it and

my son, Matty , my mom and I all gave blood samples last week. It

will be a couple of months before we meet with Schoffner again for a

follow up. He explained that as the research progresses they

sometimes go back and take another look and apply new information to

unanswered questions. I don't believe anything we learn will

necessarily be helpful to our situation but we chalk it up to research

and hope that it will be helpful to someone in the future. I'll let

you know what we find out.

Anne