Update

February 24, 2001

Hi to all of you, and hi to (You will see why in

just a minute)!

I would like to update you on 's health (?) situation.

We went to see his cf clinic last Tuesday. Somehow I like

going there because they make me feel so much better

afterwards. It's just the feeling to know what is going on.

Even if it is not always nice what you know is going on...

has had a terrible cough for ages. I think it started

in November. He never had a temperature, but this cough

would just not go away. We went through a couple of

antibiotics and new inhalation things but nothing helped.

After a while even Talau (no CF, so far) began to cough.

Well, now they have been both tested on whooping cough

(sp.?). 's test showed a " maybe " and Talau's test was

negative. But, I have been told that these blood test aren't

really any good?!

is now being tested on allergies.

And, this is where you now come in , both are being

tested on Asthma.

I will know more about this in about a week or two. And

then, , should one or both be like your two dear

ones, be sure I will come up with lots of funny questions.

That was all for now. I have started my forth week as a

" single " mother as Axel is still in hospital having his

finger fixed. He looks much to healthy for being in hospital

and he just cannot stop annoying the nurses with these very

nice remarks he makes (The nurse says: " Just call us if you

want any help " and he says " Well, isn't that what we are

here for? " )

I wish you a nice day.

I will start getting the monsters ready for bed!

Caroline

with Talau 10 (no CF, but maybe Asthma)

and 5 1/2 (CF and maybe Asthma)

and without Axel 30+++ (in hospital fixing his left hand)

(I am resending this message as it was not delivered)

February 14, 2003

Nan

Thanks for the update on . You have had a great deal to adjust to but

it also seems like progress is being made.

I sure hope that Brenden's wish to have his mom home comes true in a timely

manner.

Hugs to all of you.

laurie

Reply-To:

Date: Fri, 14 Feb 2003 02:27:29 -0000

To:

Subject: Update

It has been a long month or so since was discharged from the

hospital and took up residence in an extended care facility nearer to

our home. Surprisingly enough, it was about 3 and a half weeks before

she had pain issues bad enough to send her back to the hospital. Her j

tube popped out while waiting for some x-rays. That precipitated about

2 weeks total of frantic activity in the hospital and nursing home

arena's.

She was discharged again on Sunday, 9 February, and had her first

appointment at the MDA Clinic on Wednesday, February 12. We were all

pretty pleased with the clinic visit. They are trying to lay the

ground work for to have a bone marrow transplant that will

hopefully replace some of her mutant mito with healthy chromosomes

that will propagate. They have no real idea if it will work but it

seems to be a best shot for now.

's GI doc is the brother of the physician in NY who identified

her particular mutation. (Don't know if I am using all of the right

terminology, but you get the picture). Dr. Hurano is aware of 44

patients world wide with this particular variant (MNGIE). So, once

they come up with some possible drugs and such and start clinical

trials, his subjects to draw from will be quite limited but will

definitely include . She was fortunate enough to meet him on this

last round at the hospital.

's mobility continues to be an issue and the MDA Doctor has

already started the ball rolling to get her an electric scooter. We

will meet with the company mid week next week so that they can measure

her and see what she needs.

This has all been a lot for us all to absorb in a very short period of

time. You have all been a wonderful source of information and support.

For rookies (my family and myself), we aren't doing half bad. Things

could be a lot worse than they are and I count my blessings on a daily

basis.

n, our grandson, asked why we were taking his mom to more

doctors and I told him it was because we wanted them to help us figure

out a way that Mommy could come home to live. He said, " Wit ME? " and I

said " Absolutely! "

Nan in Illinois

Medical advice, information, opinions, data and statements contained herein

are not necessarily those of the list moderators. The author of this e mail

is entirely responsible for its content. List members are reminded of their

responsibility to evaluate the content of the postings and consult with

their physicians regarding changes in their own treatment.

February 14, 2003

Dear Nan, thanks for posting the update on . I hope she knows

we are thinking of her. How wonderful it will be when she makes it

home for her little boy. You guys are sure doing a good job holding

the fort together. I'll be praying for a good outcome brom the bone

marrow transplant, Celia

> It has been a long month or so since was discharged from the

> hospital and took up residence in an extended care facility nearer

to

> our home. Surprisingly enough, it was about 3 and a half weeks

before

> she had pain issues bad enough to send her back to the hospital. Her

j

> tube popped out while waiting for some x-rays. That precipitated

about

> 2 weeks total of frantic activity in the hospital and nursing home

> arena's.

>

> She was discharged again on Sunday, 9 February, and had her first

> appointment at the MDA Clinic on Wednesday, February 12. We were all

> pretty pleased with the clinic visit. They are trying to lay the

> ground work for to have a bone marrow transplant that will

> hopefully replace some of her mutant mito with healthy chromosomes

> that will propagate. They have no real idea if it will work but it

> seems to be a best shot for now.

>

> 's GI doc is the brother of the physician in NY who identified

> her particular mutation. (Don't know if I am using all of the right

> terminology, but you get the picture). Dr. Hurano is aware of 44

> patients world wide with this particular variant (MNGIE). So, once

> they come up with some possible drugs and such and start clinical

> trials, his subjects to draw from will be quite limited but will

> definitely include . She was fortunate enough to meet him on

this

> last round at the hospital.

>

> 's mobility continues to be an issue and the MDA Doctor has

> already started the ball rolling to get her an electric scooter. We

> will meet with the company mid week next week so that they can

measure

> her and see what she needs.

>

> This has all been a lot for us all to absorb in a very short period

of

> time. You have all been a wonderful source of information and

support.

> For rookies (my family and myself), we aren't doing half bad.

Things

> could be a lot worse than they are and I count my blessings on a

daily

> basis.

>

> n, our grandson, asked why we were taking his mom to more

> doctors and I told him it was because we wanted them to help us

figure

> out a way that Mommy could come home to live. He said, " Wit ME? " and

I

> said " Absolutely! "

>

> Nan in Illinois

February 14, 2003

Nan,

Boy you folks sure have had a rough time of it. I'm glad to here

is now out of the hospital and hope that she can get further

towards getting home with her son. Please let her know we are

thinking of her.

Hugs,

Nan wrote:

> It has been a long month or so since was discharged from the

> hospital and took up residence in an extended care facility nearer to

> our home. Surprisingly enough, it was about 3 and a half weeks before

> she had pain issues bad enough to send her back to the hospital. Her j

> tube popped out while waiting for some x-rays. That precipitated about

> 2 weeks total of frantic activity in the hospital and nursing home

> arena's.

>

> She was discharged again on Sunday, 9 February, and had her first

> appointment at the MDA Clinic on Wednesday, February 12. We were all

> pretty pleased with the clinic visit. They are trying to lay the

> ground work for to have a bone marrow transplant that will

> hopefully replace some of her mutant mito with healthy chromosomes

> that will propagate. They have no real idea if it will work but it

> seems to be a best shot for now.

>

> 's GI doc is the brother of the physician in NY who identified

> her particular mutation. (Don't know if I am using all of the right

> terminology, but you get the picture). Dr. Hurano is aware of 44

> patients world wide with this particular variant (MNGIE). So, once

> they come up with some possible drugs and such and start clinical

> trials, his subjects to draw from will be quite limited but will

> definitely include . She was fortunate enough to meet him on this

> last round at the hospital.

>

> 's mobility continues to be an issue and the MDA Doctor has

> already started the ball rolling to get her an electric scooter. We

> will meet with the company mid week next week so that they can measure

> her and see what she needs.

>

> This has all been a lot for us all to absorb in a very short period of

> time. You have all been a wonderful source of information and support.

> For rookies (my family and myself), we aren't doing half bad. Things

> could be a lot worse than they are and I count my blessings on a daily

> basis.

>

> n, our grandson, asked why we were taking his mom to more

> doctors and I told him it was because we wanted them to help us figure

> out a way that Mommy could come home to live. He said, " Wit ME? " and I

> said " Absolutely! "

>

> Nan in Illinois

>

> Medical advice, information, opinions, data and statements contained herein

are not necessarily those of the list moderators. The author of this e mail is

entirely responsible for its content. List members are reminded of their

responsibility to evaluate the content of the postings and consult with their

physicians regarding changes in their own treatment.

>

February 14, 2003

I forgot to ask about the bone marrow transplant. What is the

reason given for doing that if I may ask.

Nan wrote:

> It has been a long month or so since was discharged from the

> hospital and took up residence in an extended care facility nearer to

> our home. Surprisingly enough, it was about 3 and a half weeks before

> she had pain issues bad enough to send her back to the hospital. Her j

> tube popped out while waiting for some x-rays. That precipitated about

> 2 weeks total of frantic activity in the hospital and nursing home

> arena's.

>

> She was discharged again on Sunday, 9 February, and had her first

> appointment at the MDA Clinic on Wednesday, February 12. We were all

> pretty pleased with the clinic visit. They are trying to lay the

> ground work for to have a bone marrow transplant that will

> hopefully replace some of her mutant mito with healthy chromosomes

> that will propagate. They have no real idea if it will work but it

> seems to be a best shot for now.

>

> 's GI doc is the brother of the physician in NY who identified

> her particular mutation. (Don't know if I am using all of the right

> terminology, but you get the picture). Dr. Hurano is aware of 44

> patients world wide with this particular variant (MNGIE). So, once

> they come up with some possible drugs and such and start clinical

> trials, his subjects to draw from will be quite limited but will

> definitely include . She was fortunate enough to meet him on this

> last round at the hospital.

>

> 's mobility continues to be an issue and the MDA Doctor has

> already started the ball rolling to get her an electric scooter. We

> will meet with the company mid week next week so that they can measure

> her and see what she needs.

>

> This has all been a lot for us all to absorb in a very short period of

> time. You have all been a wonderful source of information and support.

> For rookies (my family and myself), we aren't doing half bad. Things

> could be a lot worse than they are and I count my blessings on a daily

> basis.

>

> n, our grandson, asked why we were taking his mom to more

> doctors and I told him it was because we wanted them to help us figure

> out a way that Mommy could come home to live. He said, " Wit ME? " and I

> said " Absolutely! "

>

> Nan in Illinois

>

> Medical advice, information, opinions, data and statements contained herein

are not necessarily those of the list moderators. The author of this e mail is

entirely responsible for its content. List members are reminded of their

responsibility to evaluate the content of the postings and consult with their

physicians regarding changes in their own treatment.

>

February 14, 2003

Thanks for the update and hang in there.

Update

> It has been a long month or so since was discharged from the

> hospital and took up residence in an extended care facility nearer to

> our home. Surprisingly enough, it was about 3 and a half weeks before

> she had pain issues bad enough to send her back to the hospital. Her j

> tube popped out while waiting for some x-rays. That precipitated about

> 2 weeks total of frantic activity in the hospital and nursing home

> arena's.

>

> She was discharged again on Sunday, 9 February, and had her first

> appointment at the MDA Clinic on Wednesday, February 12. We were all

> pretty pleased with the clinic visit. They are trying to lay the

> ground work for to have a bone marrow transplant that will

> hopefully replace some of her mutant mito with healthy chromosomes

> that will propagate. They have no real idea if it will work but it

> seems to be a best shot for now.

>

> 's GI doc is the brother of the physician in NY who identified

> her particular mutation. (Don't know if I am using all of the right

> terminology, but you get the picture). Dr. Hurano is aware of 44

> patients world wide with this particular variant (MNGIE). So, once

> they come up with some possible drugs and such and start clinical

> trials, his subjects to draw from will be quite limited but will

> definitely include . She was fortunate enough to meet him on this

> last round at the hospital.

>

> 's mobility continues to be an issue and the MDA Doctor has

> already started the ball rolling to get her an electric scooter. We

> will meet with the company mid week next week so that they can measure

> her and see what she needs.

>

> This has all been a lot for us all to absorb in a very short period of

> time. You have all been a wonderful source of information and support.

> For rookies (my family and myself), we aren't doing half bad. Things

> could be a lot worse than they are and I count my blessings on a daily

> basis.

>

> n, our grandson, asked why we were taking his mom to more

> doctors and I told him it was because we wanted them to help us figure

> out a way that Mommy could come home to live. He said, " Wit ME? " and I

> said " Absolutely! "

>

> Nan in Illinois

>

> Medical advice, information, opinions, data and statements contained

herein are not necessarily those of the list moderators. The author of this

e mail is entirely responsible for its content. List members are reminded of

their responsibility to evaluate the content of the postings and consult

with their physicians regarding changes in their own treatment.

>

February 15, 2003

Nan,

Good to hear from you. I'm sorry its been such a stressful month on you and

your family but does sound like you are getting somewhere with stacy's care

and treatment. i hope things continue to get better but less stressful. ill

pray for stacy and your family. keep us posted on how the marrow transpant

goes and any other new things.

take care,

adrienne

February 15, 2003

> I forgot to ask about the bone marrow transplant. What is the

> reason given for doing that if I may ask.

I am not sure that I understand the whole thing (I feel like a

relative idiot on the technical and medical issues that you all are so

conversant about, but I keep trying to expand my base of knowledge).

However, has no full brothers or sisters, so they have to try to

find a match for her in the " Unrelated Pool " . The damage is on

chromosome 22 and effects the Thymidine phosphorylase enzyme activity.

Her activity on this enzyme is less than 10% of what it should be.

They hope that by introducing bone marrow or stem cells that do not

have the damage on chromosome 22 that her body will begin producing

some healthy cells that will, hopefully, help increase the Thymidine

phosphorylase enzyme activity to somewhere between 30 and 50% of the

norm.

First they have to see if they can even find a match. Then, they have

to develop the protocols, they have to get FDA approval, etc. etc.

etc. It could be a year or more down the road before the procedure can

actually take place. In the meantime, she is trying to maintain her

weight with TPN and not lose any more (currently she is between 75 and

78 lbs). She is also fighting hard to overcome some of the neurologic

problems that this disease is causing (she has issues with

irritability, paranoia, etc.) She can rarely eat " real food " for more

than a couple of bites, and really gets tired of people telling her

that the only way she will gain weight is if she eats. (Did I forget

to tell you, she can't eat?)

She has finally been approved for SSI and we have just received the

first check for her son. Unfortunately, it doesn't even cover the cost

of his daycare. But, somehow it will all get worked out.

I don't post often because, really, I don't feel that I have much to

offer. I have little knowledge about any of this and am a bit

overwhelmed.

But I do read all of the posts and find the information helps me to

figure out what the doctors are talking about.

Thank you all soooooo much.

Nan

February 17, 2003

Thank you for your warm wishes and supportive words. asks often

about news from " the group " and hopes to make contact soon. She

doesn't have routine access to a computer at this point, we do have

concerns about security if we take a laptop in (there really is no way

to keep it secure) so we muddle through with our version of

" telephone " , you tell me, I tell her, she tells her mom and dad,

somehow it all gets muddled but the warm fuzzies are always there.

In regards to having n tested, we have asked the advise of

several doctors that we trust, who know something of mito issues and

have been assured that the likelyhood of n having this disease

is almost non-existant. We did have a consultation with a geneticist

who explained that the MNGIE is autosomal recessive, so, unless

n's father has the same mutation on the same chromosome and was

a carrier and at conception, n was gifted with the mutation from

BOTH of his parents, he will not have this problem. Because there are

so few known instances of this happening in the world, his chances are

decreased further. In most (obviously not all) instances of MNGIE, the

parents were related in some way. Two carriers got together and . . .

well - we know what happened!

Anyway, yes, he will be a carrier. But we have been advised to wait

and see if he becomes symptomatic before we have him tested. (If he

does become symptomatic, we will at least KNOW what to have him tested

for). So, basically - we have opted to play the wait and see game. We

will focus on getting him to a counselor to help him deal with his

absent mommy and on getting him into programs to help increase his

chances of success in school to work on the areas where he is showing

signs of delayed development -- all of which could be indirectly or

directly related to his processing of his mothers health issues.

Can I ever respond with a simple, two sentence answer? Probably not.

Sorry to be so long winded. But this is an area that has been of

concern to us and we are finally getting comfortable with the answers

and explanations we are getting.

Nan

> I believe also that they should be able to test 's son via a

blood test

> since you know which chromosone is affected. They tested my son for

MELAS

> with just one test because we knew the mutation.

> Janet Sample

> ----- Original Message -----

> From: " Alice " <justagram@p...>

> > Were you able to have bloodwork done on her son to see

> > if he has it also? As long as you know the gene, this

> > can be done.

> > Alice

February 17, 2003

Nan

I know a way to write only a couple of sentences, but don't advise it. Have

rotator cuff surgery and have to type with one finger. Seriously, I am

inspired by your posts, long or short.

laurie

Reply-To:

Date: Mon, 17 Feb 2003 14:32:57 -0000

To:

Subject: Re: Update