Re: Re: My granddaughter Audrey

[Guest guest]

Hi all,

First I want to say thanks for the wonderful response I reeived from all

of you regarding m granddaughter and mito. I an tell I have found the

support we have been looking for.

My daughter and her husband are taking Audrey to her neurologist today

to hopefully get the final results of her muscle biopsy and DNA testing,

My daughter has a son from her first marriage and she is very anxious to

find out if Alec needs testing also. He doesn't have the symtoms that

Audrey has but she worries that he could have a late onset, if that is

possible.

We celegrated Audrey's first birthday yesterday and she loved being the

center of all the attention, like she isn't usually, ha!ha! She is still

only able to hold her up for maybe 30-45 seconds at a time, unable to

crawl, situp without support and if she does happen to rollover and one

of her arms is under her she is unable to get it out from under her.

She is also very small at only 14.7 pounds. She was up to 15.8 but last

week she was under the weather and lost a pound. From the beginning she

has had trouble taking a bottle and we always thought it was because she

is a breast fed baby and she just preferred mommy to the bottle,

however, she doesn't latch on like a normal baby does with that either.

Last week she had a swallow study done and it showed some reflux. We

have found that she does better with baby foods that have been thickened

some. Next week she has an appointment with a neurologist with the

Muscular Dystrophy Assoc., they want to evaluate her for their services.

Well I have rattled on long enough, even though I could go on and on. I

look forward to hearing from all of you, and hopefully I will be able to

help someone else out also.

Oh. one more big thing, Audrey's Ped contacted Dr. Shoffner, at our

request, and after Dr. Shoffner reviewed Audrey's records that were

faxed to him, he called and said he would like to see her. He wants to

repeat all of her tests, including muscle biopsy and we aren't sure what

to do yet. This is another reason we Audrey is being evaluated by MDA

to see if they will help with expenses as my daughter's insurance

provider may not cover repeated testing. Now I really must go.

Thanks and God Bless

Kathy

[Guest guest]

Good luck Kathy.

Re: Re: my granddaughter Audrey

> Hi all,

> First I want to say thanks for the wonderful response I reeived from all

> of you regarding m granddaughter and mito. I an tell I have found the

> support we have been looking for.

> My daughter and her husband are taking Audrey to her neurologist today

> to hopefully get the final results of her muscle biopsy and DNA testing,

> My daughter has a son from her first marriage and she is very anxious to

> find out if Alec needs testing also. He doesn't have the symtoms that

> Audrey has but she worries that he could have a late onset, if that is

> possible.

> We celegrated Audrey's first birthday yesterday and she loved being the

> center of all the attention, like she isn't usually, ha!ha! She is still

> only able to hold her up for maybe 30-45 seconds at a time, unable to

> crawl, situp without support and if she does happen to rollover and one

> of her arms is under her she is unable to get it out from under her.

> She is also very small at only 14.7 pounds. She was up to 15.8 but last

> week she was under the weather and lost a pound. From the beginning she

> has had trouble taking a bottle and we always thought it was because she

> is a breast fed baby and she just preferred mommy to the bottle,

> however, she doesn't latch on like a normal baby does with that either.

> Last week she had a swallow study done and it showed some reflux. We

> have found that she does better with baby foods that have been thickened

> some. Next week she has an appointment with a neurologist with the

> Muscular Dystrophy Assoc., they want to evaluate her for their services.

> Well I have rattled on long enough, even though I could go on and on. I

> look forward to hearing from all of you, and hopefully I will be able to

> help someone else out also.

> Oh. one more big thing, Audrey's Ped contacted Dr. Shoffner, at our

> request, and after Dr. Shoffner reviewed Audrey's records that were

> faxed to him, he called and said he would like to see her. He wants to

> repeat all of her tests, including muscle biopsy and we aren't sure what

> to do yet. This is another reason we Audrey is being evaluated by MDA

> to see if they will help with expenses as my daughter's insurance

> provider may not cover repeated testing. Now I really must go.

> Thanks and God Bless

> Kathy

>

>

>

>

>

> Please contact mito-owner with any problems or questions.

>

>

[Guest guest]

Dear Kathy:

I am in the process of getting an appt. with Shoffner's office too.

Earlier, I told the local MDA office about getting a biopsy and the medical coordinator there told me that they would pay for whatever my primary insurance wouldn't!!! So if your granddaughter is registered with the MDA I would give them a call....

Carol

Re: Re: My granddaughter Audrey

My daughter Amie, Audrey's mom, got a fax today from Dr. Shoffner'soffice with a list of procedures he wants to do on Audrey along with theprices of each, the total of which is somewhere in the neighborhood of16,000!!!She is in the process of contacting her insurance carrier tosee what they will cover, but that doesn't look to promising. What dopeople do? How do they afford these tests? All of the gov't agenciesthey have contacted so far for assistance have denied them on thegrounds they make too much money. My son-in-law drives a truck and mydaughter works in an office. They have been told if they get a divorcethen they could get all kinds of help. I think this is awful. Amiewould like to do nothing better than stay home and be a full time mom toAudrey, but she carries the insurance for the family. One morequestion, We would like any feedback, good or bad in regards toDr.Shoffner vs Dr. Divivo. They are trying to decide which would be thebetter to go to. Sorry to have rattled on so long. This is just a veryfrustrating time for us, as I am sure you have been through this also.Thanks and God blessKathy Please contact mito-owner with any problems or questions.

[Guest guest]

Kathy

We had the good fortune that our HMO, Harvard Pilgrim Health Care covered our visit and all tests performed by Dr. Shoffner. We only had to provide a 10.00 copay. If you have a physician that is able to write a good letter of necessity, (Really, Really play up the fact that Atlanta is one of the very few sites that can do a fresh muscle biopsy. The others are San Diego, and Cleveland)

I think if you go to the Mito group archives you will find info on Dr. Devivo's bedside manner. ......

I cannot urge your family enough to see Shoffner. He is brilliant, kind, and provides for the majority that see him an actual answer/diagnosis.

Deb (visibleworship) saw him in March and her insurance did not cover it but they had a fundraiser which covered all expenses. Angel flight will provide free airfare/flights (we used them they were great) Your family could stay at the local Mc house for 10.00 per night. Let the group know if insurance won't cover it and we can brainstorm for/with you re: fundraising ideas.

I strongly urge you to see Shoffner because my personal experience was phenomenal.

Please feel free to email me privately at twillis@... if I could provide any other assistance.

Sincerely,

Bridget Mom To Owen "water boy" Willis, 3.5 yrs, Complex 1 and Co Q 10 deficiency, PDD/NOS and the world's biggest belly laughand , 1 yr, developing well (thank God, everyday)

Re: Re: My granddaughter Audrey

My daughter Amie, Audrey's mom, got a fax today from Dr. Shoffner'soffice with a list of procedures he wants to do on Audrey along with theprices of each, the total of which is somewhere in the neighborhood of16,000!!!She is in the process of contacting her insurance carrier tosee what they will cover, but that doesn't look to promising. What dopeople do? How do they afford these tests? All of the gov't agenciesthey have contacted so far for assistance have denied them on thegrounds they make too much money. My son-in-law drives a truck and mydaughter works in an office. They have been told if they get a divorcethen they could get all kinds of help. I think this is awful. Amiewould like to do nothing better than stay home and be a full time mom toAudrey, but she carries the insurance for the family. One morequestion, We would like any feedback, good or bad in regards toDr.Shoffner vs Dr. Divivo. They are trying to decide which would be thebetter to go to. Sorry to have rattled on so long. This is just a veryfrustrating time for us, as I am sure you have been through this also.Thanks and God blessKathy Please contact mito-owner with any problems or questions.

[Guest guest]

Carol

We have heard about the MDA, infact, Audrey has an appointment with

their Neurologist on Tuesday to get set up with them. I just hope

because she has already had one muscle biopsy that will cause them not

to help with this one. The first one was frozen and I know now how

important it is for the specimem to be fresh.

Audrey just turned a year old on the 10th and from what we read it

sounds like we are really ahead of schedule on her diagnosis. That is

reallly due to her mother's persistance with her Doctor. Audrey was

born 3 weeks early and spent the first 2 weeks in the NICU with HMD,

aspiration pneumonia and Group B Strep. From the day they brought

Audrey home Amie knew their was something different with her. She said

she didn't even nurse the same as her little boy. Her family doc said

she was just delayed due to her slow start. Anyway, Amie kept at it and

switched Docs and here we are. There is something to be said for a

Mother's gut feeling.

When are you going to see Dr. Shoffner? Good luck and let us hear how

things go. You are in our prayers.

God Bless

Kathy

[Guest guest]

Dear Kathy:

I hope MDA will cover for Audrey...I don't see why not!

My neuro has a call into Horizon, but has not heard back from them...He says he will call again on Monday if they haven't responded by then. I was hoping to go sometime in August, before school starts...but that doesn't look like that will happen.

Carol

Re: Re: My granddaughter Audrey

CarolWe have heard about the MDA, infact, Audrey has an appointment withtheir Neurologist on Tuesday to get set up with them. I just hopebecause she has already had one muscle biopsy that will cause them notto help with this one. The first one was frozen and I know now howimportant it is for the specimem to be fresh. Audrey just turned a year old on the 10th and from what we read itsounds like we are really ahead of schedule on her diagnosis. That isreallly due to her mother's persistance with her Doctor. Audrey wasborn 3 weeks early and spent the first 2 weeks in the NICU with HMD,aspiration pneumonia and Group B Strep. From the day they broughtAudrey home Amie knew their was something different with her. She saidshe didn't even nurse the same as her little boy. Her family doc saidshe was just delayed due to her slow start. Anyway, Amie kept at it andswitched Docs and here we are. There is something to be said for aMother's gut feeling.When are you going to see Dr. Shoffner? Good luck and let us hear howthings go. You are in our prayers.God BlessKathy Please contact mito-owner with any problems or questions.

[Guest guest]

Hi :

Just wanted to let you know that we are all in this together. Aren't

birthdays wonderful? It is fun to be in the center of attention for a

change in a positive way other than medical reasons. My daughter,

Leah, is 4 years old and weights around 28 pounds. She can now try and

prop sit for 15 seconds. She lays on her back alot and loves tv!!!

Wish we had stock in cartoon network or nick. One thing you may want

to consider is a habermann bottle. It is a special nipple that is

usually used with premies and cleft palate babies. Leah had a cleft

palate and that is what she uses still today for primary liquids. Even

though she is attempting a cup at times. The Habermann allows very

litte or no sucking. Ask her ped. about it. She can get her liquids a

lot easier that way. Leah loves her. Even when she was little and

couldn't breast feed ( I believe now it didn't have to do with the

cleft palate as much as her low muscle tone; but not knowing it at the

time). She would do quite well with the Habermann. It is expensive.

Here in Wisconsin it is around $8 just for the nipple. We now have it

where MA covers two nipples a month for us. Yippee!!! Any questions

please email me at Sorehead@.... I get my emails from my

brothers computer so that is why it says From: Your Name and then my

email address. Can't change that I guess. Good luck with all your

appointments and I hope your insurance covers what you really need.

N. mom to Leah

> Hi all,

> First I want to say thanks for the wonderful response I reeived from

all

> of you regarding m granddaughter and mito. I an tell I have found the

> support we have been looking for.

> My daughter and her husband are taking Audrey to her neurologist today

> to hopefully get the final results of her muscle biopsy and DNA

testing,

> My daughter has a son from her first marriage and she is very anxious

to

> find out if Alec needs testing also. He doesn't have the symtoms that

> Audrey has but she worries that he could have a late onset, if that is

> possible.

> We celegrated Audrey's first birthday yesterday and she loved being

the

> center of all the attention, like she isn't usually, ha!ha! She is

still

> only able to hold her up for maybe 30-45 seconds at a time, unable to

> crawl, situp without support and if she does happen to rollover and

one

> of her arms is under her she is unable to get it out from under her.

> She is also very small at only 14.7 pounds. She was up to 15.8 but

last

> week she was under the weather and lost a pound. From the beginning

she

> has had trouble taking a bottle and we always thought it was because

she

> is a breast fed baby and she just preferred mommy to the bottle,

> however, she doesn't latch on like a normal baby does with that

either.

> Last week she had a swallow study done and it showed some reflux. We

> have found that she does better with baby foods that have been

thickened

> some. Next week she has an appointment with a neurologist with the

> Muscular Dystrophy Assoc., they want to evaluate her for their

services.

> Well I have rattled on long enough, even though I could go on and

on. I

> look forward to hearing from all of you, and hopefully I will be able

to

> help someone else out also.

> Oh. one more big thing, Audrey's Ped contacted Dr. Shoffner, at our

> request, and after Dr. Shoffner reviewed Audrey's records that were

> faxed to him, he called and said he would like to see her. He wants

to

> repeat all of her tests, including muscle biopsy and we aren't sure

what

> to do yet. This is another reason we Audrey is being evaluated by MDA

> to see if they will help with expenses as my daughter's insurance

> provider may not cover repeated testing. Now I really must go.

> Thanks and God Bless

> Kathy

>

>

>

>

>

[Guest guest]

Alice

Thank you so much for responding to my email. It is so good to be able

to chat with other people that know what you are going through. I try

to stay strong for my daughter and her husband but sometimes that is

hard. I am a nurse and I have some really close friends at work that I

am able to let down to but it is hard for them to know the heart ache I

feel. I also have a wonderful husband but he is hurting also.

Yes, we are trying to take it a day at a time, but that is hard to do

sometimes. We are learning however. Audrey has had several ear

infections lately and today her Ped said she needs tubes so now a trip

to another Dr. to make arrangements for that. We are worried about the

anesthetic because when they gave her chlorohydrate when she had her MRI

it took her nearly two days to come out of if. At least I am good

friends with the CRNA who will be putting her under and I trust her with

my life.

They have plans to go see Dr. Shoffner as soon as they can work out the

details. He has already agreed to see Audrey and to do many tests.

Alot of which have already been done, including a muscle biopsy,

however, hers was a frozen one and she needs a fresh one.

So how long have you and your family been dealing with mito? Who was

diagnoised with it first? What kind do you have? I don't mean to be

nosey, I am just wondering.

Well, I better go for this time, I have ratttled on long enough. Hope

to hear from you soon.

God Bless

Kathy