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Qaj the Fuzzy Love Worm
19-03-2005, 04:41:13
Now, I know I may not be the most normal guy in the world - after all, I'm a CG'er, so I can't be all that right in the head.

But my wife is bipolar, my step-son is bipolar, and my twin step-daughters are honor roll students who do not use their brains outside of controlled environments (read: the classroom).

Recently, my 3 year old daughter started having balance problems: she'd fall over unexpectedly, and looked like she was falling out of her chair while she was eating food. She also started having vision problems. And, at three, she still hasn't started talking properly either.


We took her to the local doctor, who immediately referred her to Stanford University Medical Center to see a neurologist. She had an MRI, and EEG, and numerous other tests.

The MRI shows that she has myoclonal epilepsy. She also has an atrophied cerebellum (the weird bulgy thing at the back of the head near the brain stem, supposedly connected with motor skills) and may lack matter in the outer layer of the brain.

The doctors wanted to test her for something called Batten Disease, which is a degernative condition that would kill her before she's 12. Here's some background info to cheer you up.


Batten Disease is named after the British pediatrician who first described it in 1903. Also known as Spielmeyer-Vogt-Sjogren-Batten Disease, it is the most common form of a group of disorders called Neuronal Ceroid Lipofuscinoses (or NCLs). Although Batten Disease is usually regarded as the juvenile form of NCL, it has now become the term to encompass all forms of NCL. The forms of NCL are classified by age of onset have the same basic cause, progression and outcome but are all genetically different.

Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten Disease/NCL become blind, bedridden, and unable to communicate and presently is always fatal.

Batten Disease is not contagious or, at this time, preventable.


And if not that, then any of a dozen other degenerative brain conditions.

Anyway. This was back in January.

Yesterday, we went back to Standford to hear the results of the tests.

The doctors say the test for Batten Disease came back negative. Also, there is no sign that what she does have is degenerative at all. So what it boils down to right now, is that she's a brain atrophied epileptic.

Of course, we couldn't be happier with that news :) Given the alternative, to have a 'special' kid who lives is fantastic. And, truth be told, her half-brother is a much bigger handful right now, so this is a relatively small burden to bear.


It's a relief to finally know something, and to not be worried about whether I lose my princess before 10 years are out.

:) :bounce: :bounce: :bounce: :)

Oerdin
19-03-2005, 04:58:47
It sucks your daughter has epilepsy but at least she's not dying. It could be worse. ;)

Qaj the Fuzzy Love Worm
19-03-2005, 05:10:34
Exactamundo :) That's why we're unreasonably happy to have an epileptic daughter :D

fp
19-03-2005, 08:40:56
Hurray for kind-of-bad-but-not-nearly-as-bad-as-you-feared news! :D

zmama
19-03-2005, 10:08:02
Phew, how wonderful!

I'm glad you finally found out :D

miester gandertak
19-03-2005, 10:35:19
this definately deserves a happy
dooooo di dooooo for the little princess.

so here it comes:

doooooooooooooooooooooooooo
di
doooooooooooooooooooooooooo

protein
19-03-2005, 10:47:48
I would have slowly come apart waiting for those results. You must be so happy. You can certainly live with epilepsy.

:beer:

Dyl Ulenspiegel
19-03-2005, 10:58:08
Good bad news. If you want a real disaster now, you'll have to adopt Gandertak.

zmama
19-03-2005, 11:18:12
:lol: He'd fit right in!!

miester gandertak
19-03-2005, 11:23:41
Originally posted by Dyl Ulenspiegel
Good bad news. If you want a real disaster now, you'll have to adopt Gandertak. Dyl you have got a kikker in je bil

sleeping_satsuma
19-03-2005, 11:46:06
at first I thought this was going to be a funny thread, then a sad thread, now a heartwarming thread....what a rollercoaster :)

I'm glad you won't lose your princess. We used to have a little boy called Olly who lived next door (he has cerebral palsy) and his family were told he would never walk, talk, or basically function in society, but he grew up into a chatty little tinker, far more advanced than anyone ever hoped, going to school and he was probably the most loving and rewarding child a parent could hope for.

I think your daughter's future is in no way decided by her illness- with lots of love and support she could go anywhere. Good luck :)

jsorense
19-03-2005, 20:53:42
Qaj, thank goodness for good news.
Regards to LoC.
Bless. :beer:

Spartak
19-03-2005, 21:01:18
God. What an ordeal to go through.

Good luck.

Gary
19-03-2005, 21:17:09
:)

miester gandertak
20-03-2005, 00:00:02
Originally posted by Dyl Ulenspiegel
Good bad news. If you want a real disaster now, you'll have to adopt Gandertak. Dyl do you wanne be my daddy?

protein
20-03-2005, 00:24:58
Originally posted by zmama
He'd fit!!
:lol:

BigGameHunter
20-03-2005, 00:41:33
I am extremely thankful both boys appear to be completely healthy here.
I cannot begin to imagine the strain of having a child with greater needs.

I hope everything works out and you are blessed in other ways.

Qaj the Fuzzy Love Worm
20-03-2005, 02:13:30
Originally posted by zmama
:lol: He'd fit right in!!

That's true. I can barely understand what my english-as-a-first-language daughters say most of the time.

On second thoughts, I think I understand MrG more than I do them. That's somewhat scary...:eek:


I would have slowly come apart waiting for those results.

A couple of people have said things like this to me. i reply: But you do what you have to. You deal with it, or it eats you up and kills you inside. You can let it, or you can accept it. It's tough, and it's stressful, but you can deal with stress.

Perhaps it's a state of mind thing. Or a denial thing (I'm not in denial). I don't know. But we resolved, LoC and I, that we'd make her life as happy and comfortable as possible, whatever the outcome.

Anything else leads to madness. Not good for anyone.

Oerdin
20-03-2005, 03:06:49
My aunt got an infection when she was 3-4 months old and ended up with a fever of 114 degrees. The doctors thought she was going to die and her temperature got so high that the doctors would have her dipped in a bath of ice water in an attempt to lower her temperature. Unfortunately, her temperature still got so high that it resulted in some brain damage so she developed epilepsy and to this day periodically has seizures. Luckily, there is medication available so with some simple precautions people can still live normal lives.

Qaj the Fuzzy Love Worm
20-03-2005, 03:20:44
114?!? I didn't think you could live over 110. But maybe it's like those people you hear about driving around with 0.5% Blood alcohol - 0.3% is supposed to be deadly. Some people are just better put together than others, I guess.

If all your aunt got out of that was epilepsy, she should consider herself extremely fortunate!

Oerdin
20-03-2005, 03:35:21
Children can survive at higher temperatures then adults since their surface area is large as a proportion of total body mass. They also cool off and get cold faster. 114 did cause brain damage though and the doctors thought she was going to die and that's why theyput her in an ice water bath.

Chris
20-03-2005, 16:03:55
Glad to hear it wasn't as bad as first thought Qaj.

Still, that is more then enough problems for one family, here's to you having some good luck. ;)

Tizzy
20-03-2005, 20:01:02
Damn, Chris stole my post :)

I'm glad things aren't any worse for you and yours Qaj

Qaj the Fuzzy Love Worm
21-03-2005, 06:28:34
Damn it Tizzy, don't jinx it! :D

Funko
21-03-2005, 10:54:56
I think that's great news!

Provost Harrison
21-03-2005, 11:37:28
114 is an incredibly high body temperature...usually completely lethal...

miester gandertak
21-03-2005, 11:39:20
and 136?

Provost Harrison
21-03-2005, 12:33:25
You're a thermophilic bacterium at that temperature :p

MDA
21-03-2005, 14:59:50
Originally posted by sleeping_satsuma
at first I thought this was going to be a funny thread, then a sad thread, now a heartwarming thread....what a rollercoaster :)


Exactly. Great news, Qaj, your attitude is inspiring!

miester gandertak
21-03-2005, 15:12:00
Qaj, another dooooooo di doooooo 4u.
and a :beer:

zmama
21-03-2005, 15:15:32
pssst, Qaj doesn't drink beer
Shocking in an Aussie!
He's a pepsi guy ;)

miester gandertak
21-03-2005, 15:17:23
so he is not a foster parent.

zmama
21-03-2005, 15:18:48
*groan*

Funko
21-03-2005, 15:19:11
Originally posted by miester gandertak
so he is not a foster parent.

:lol: :lol: :lol: :lol: :lol: :lol: :lol: :lol: :lol: :lol:

Best post ever.

Chris
21-03-2005, 15:47:27
Yes...yes it was.

OldWarrior_42
21-03-2005, 16:52:00
I want to second all the posts wishing you blessings and joy for your daughter. You are an amazing man to see things as you do.

I have the utmost respect for you in that regard. Give my best to the wife as well. :)

As far as epilepsy and other things.... my wife had epileptic seizures as a young child and then they stopped. Hasn't had one in 35 to 40 years. My youngest daughter had febrile seizures(High temp from fever, causing seizures.) She almost died twice before she was 2.

Now she is fine, as the dr. said, she would eventually outgrow it and stop having the seizures. Reason she had them to begin with was not completely opened inner ear tubes, which basically made everything sound to her as if she was underwater, and without proper drainage she was susceptible to infections, fever and then seizures.

They put tubes in her ears in an operation when she was young and as she grew older, her ears opened up and stayed opened and the tubes ,we were told this would happen, just fall out on their own. Your daughter has the prospects of doing well also as has happened to other people before her.


Glad your daughter is well (As can be hoped for) and here's to some more things going well for you guys as well.

Sincerly. :)

Qaj the Fuzzy Love Worm
06-10-2005, 00:11:31
Since I wrote the above we've taken Booger back for more tests. They tested her mitochondria, her enzymes etc.

Monday they called with results from the tests.

It turns out she does have Batten's Disease after all. And since I wrote the OP, she's gotten worse, too.


Over the past year, we'd watched her deterioration, so the results of the test only removed the hope that was growing slimmer day by day that, while she might not have gotten better, she might not have gotten worse.

So neither I nor LoC were shocked or inconsolate when we heard the results. We're both very sad, though, and the other kids are gutted.

The genetecist at Stanford gave us some information about the disease that a colleague of his wrote. There's not a whole lot of hope for her - from here on out it's a slow downhill progression. I personally think she'll be lucky to last until she's 12.

SO, we're going to make the best of the time we have. Nothing much has changed on a day-to-day basis - we still look after her, she's still a happy girl who loves our cats and Spongebob. LoC was talking about getting in touch with the Make a Wish Foundation people.


The worst part about today was making my mum cry when I called her with the news. I had to tell her to let my sisters know, too, because Batten's (the specific type Becca has) is a genetic disease that is only caused when two recessive genes are inherited from the parents. So, one from me, one from LoC. Which means one of my parents is also a carrier, and so could be my sisters (and their kids).


Becca remains a light and an inspiration in my life, and is still cute as a bug's ear :) And she'll be loved by everyone here for whatever time she's got left, and beyond.

Okay, now I'm crying. :(

The Norks
06-10-2005, 00:16:37
I'm so sorry to hear that- there's nothing I or anyone can say to make this better, but I hope you make the most of the time you have, and that its longer than expected.

:(

Cruddy
06-10-2005, 00:33:03
I am sorry to hear about your daughter's illness.

I will pray that her time on earth is as joyous as possible for her, you and all your family.

And I thank you for posting. Threads like this makes me really appreciate how lucky I am.

:(

Gary
06-10-2005, 00:45:24
Not a lot I can think of to say.
:(

Provost Harrison
06-10-2005, 01:11:59
Ouch, that is really bad news. I suppose it puts things in perspective really...enjoy the time you have, it makes it all the more precious...

Qaj the Fuzzy Love Worm
06-10-2005, 01:23:29
Yeah, that pretty much how we're dealing with it.

Thanks for the good thoughts and prayers everyone :)

protein
06-10-2005, 02:16:59
I'll use the happy smiley. :)

It seems more positive.

Oerdin
06-10-2005, 03:06:21
Make sure you do the most with what time you have and make sure she knows she's loved. I imagine there will be times when she will be a scared little girl and it may help her to know her parents really love her. The one thing I learned from my mother dying is that no matter how bad you feel the important thing is how she feels. Make sure she's not lonely and that she knows you are there for her.

I'm so sorry this happened to all of you. :(

notyoueither
06-10-2005, 03:18:55
I am very sorry to hear that, Qaj. Your attitude is an inspiration.

Please give LoC and the princess a hug from me.

BigGameHunter
06-10-2005, 04:56:45
Damn...you've got me crying now too.

As a parent...well...you know, of course.
I hope your little girl knows only happiness for her time...and that hers can give you some small degree of comfort if and when her time comes.

Please be well.

Greg W
06-10-2005, 05:38:16
Jeese mate, I am so sad to hear that. I just hope that things go, well, as well as can be hoped. Cherish her and all your children, cos you just never know what's around the corner.

I missed this thread the first time, and now I have tears in my eyes. Why is it that only the good die young? :cry:

JM^3
06-10-2005, 06:36:12
I am sorry

kids shouldn't have medical problems like that

you and yours are in my prayers

Jon Miller

DaShi
06-10-2005, 08:18:33
Sorry to hear about all this Qaj. :( I'm sure you and you're family will make her time the best it can possibly be. To good times.

King_Ghidra
06-10-2005, 09:27:25
Damn. :( Best wishes for you and your family, you're a pretty amazing bunch.

Funko
06-10-2005, 09:30:49
Yes, I second what K_G said. :(

MattHiggs
06-10-2005, 09:38:15
Make sure you do the most with what time you have and make sure she knows she's loved. I imagine there will be times when she will be a scared little girl and it may help her to know her parents really love her. The one thing I learned from my mother dying is that no matter how bad you feel the important thing is how she feels. Make sure she's not lonely and that she knows you are there for her.

I'm so sorry this happened to all of you.

I couldn't really put it better than that. We might only be faceless posters but we'll always be here for you.

Tizzy
06-10-2005, 10:01:42
I can only echo what everyone else has said. :(

You seem to be coping brilliantly and I hope you and LoC continue to find the strength to do so.

mr.G
06-10-2005, 10:13:49
Damn Q, this is sad.
It is amazing to read how strong you all are.
Becca remains a light and an inspiration in my life, and is still cute as a bug's ear And she'll be loved by everyone here for whatever time she's got left, and beyond.
:cry:
best sentence evah... your daughter is lucky to have parents like the 2 of you

MDA
06-10-2005, 12:06:14
This is a non-work safe thread in an entirely different way. :(

I've got no good advice that hasn't already been given. Best wishes to all of you.

Provost Harrison
06-10-2005, 12:11:34
I don't think I've posted a thread yet :D

Funko
06-10-2005, 12:12:38
Great thread to mispost in PH.

Provost Harrison
06-10-2005, 12:14:49
How the hell did that get in here? I haven't visited this thread yet until now only to find that post in here :clueless:

zmama
06-10-2005, 12:16:18
Much love sent to you and the family, my friend. Sadly, I wish I could say this was a surprise.

/hug

fp
06-10-2005, 12:37:03
I have a huge amount of respect for the way you and your family are coping in what must be an awful time. You all have my sincerest condolences and best wishes.

Drekkus
06-10-2005, 13:11:55
Qaj, after what happened to my wife and I, I think I can only start to imagine what you must be going through. All the very best.

Qaj the Fuzzy Love Worm
06-10-2005, 17:35:33
Thank you all.

Drekkus, knowing what your family went through, I am inspired by your strength. Thank you for sharing that with us.

And lol@PH :D

Chris
06-10-2005, 19:20:09
I was quite sad to read why this thread was bumped.

All we parents can do is love our children, in that your little girl has no shortage.

All the best to LoC and you Qaj.

Lazarus and the Gimp
06-10-2005, 19:35:26
May your time together as a family be happy and always remembered as a joy to you.

Beta1
06-10-2005, 20:56:16
sorry mate.

That sort of thing just shouldn't happen...

Lady_of_Chicken
07-10-2005, 04:17:33
Thank you. Again you are there for us in a trying time. We have friends in high places. CG has all the best. :)

Oerdin
07-10-2005, 07:16:32
Is there in research or genetheropy being conducted right now? I understand that some genetic disorders have been cured due to genetheropy but it is still very early days for that science. If there isn't perhaphes you could start a letter writting campaign or start an advocacy group so that other parts won't have to hear the terrible news you have heard.

LoD
07-10-2005, 18:47:51
I don't really know what to say. Best wishes for you, Qaj and LoC, and your family.

Qaj the Fuzzy Love Worm
07-10-2005, 19:39:24
Actually, the geneticist we saw is involved in trying to get a human trial of stem cell implantation approved by the FDA. There's no real evidence that the technique would do anything, and it means cutting Boo's head open and sticking stuff inside it. Plus, it could be construed as ethically dubious, considering where they get the stem cells from. We're waiting for more information before we make any decisions.

Provost Harrison
08-10-2005, 00:05:37
Sounds harsh...I suppose it is all about weighing up the pros and the cons...

Greg W
08-10-2005, 00:55:12
In the end, if there's few side effects, or none other than the surgery, and the possibility that it might work, the risk may be worth it. Still, tough decision though if there's no evidence to support it.

Good luck with it, whichever way it goes.

Spartak@CPH
08-10-2005, 18:35:34
:( Awful. Best of luck for the time you have left!

Colon
08-10-2005, 18:57:12
... :(

Are you going to tell her about it in the future?

The Mad Monk
09-10-2005, 06:11:21
You're in my prayers, Qaj. :(

self biased
09-10-2005, 07:36:30
just enjoy what time y'all have together. in the long run, any of us could only wish for that comfort.

Qaj the Fuzzy Love Worm
10-10-2005, 20:41:43
Originally posted by Colon
... :(

Are you going to tell her about it in the future?

:confused:

Provost Harrison
10-10-2005, 21:13:39
How the hell do you tell something like that to a child?

Lady_of_Chicken
15-10-2005, 00:18:34
The good thing about it, for Boo, is that she doesn't understand what is happening to her. She's four but she is developmentally about 1 or 1 1/2.

It was telling the other kids (who are too perceptive to be lied to or have the issue avoided) that was difficult, but we're all rallying around Boo and we're there for each other.

Here are some pictures of our cutie. The most recent ones are on top.

http://becca-boo-baby-boo.blogspot.com

Thanks for all your good thoughts, wishes and prayers!

Cruddy
15-10-2005, 00:35:00
:cry:

I just welled up when I saw that face looking into the camera.

Will continue to have words with the Guy in the Sky*. Persistence never hurt.


*Alias the Bloke Upstairs, God, Yahweh, Allah, Shiva - a million names and an infinite nature.

BigGameHunter
15-10-2005, 00:50:06
Don't know what to say other than my kids will probably have crushed ribs for the foreseeable future and not know why Daddy's hugging them so hard!

*Prayers and well wishes as well...PM me if a quiet time in Montana is ever needed soon.

Greg W
15-10-2005, 01:28:19
I'm lost for words. Nothing that I can think of to say seems even close to adequate after seeing how gorgeous she is.

My thoughts and prayers are with you though. And well, if there's anything you need from Australia, it'd be my pleasure. I think I'll go off and have a cry now. :cry:

devilmunchkin
15-10-2005, 08:53:12
Qaj and LoD..i'm almost crying too.. you are strong, strong ppl and I hope that your time with your beautiful daughter is wonderful.

mr.G
15-10-2005, 11:16:33
and a little priness she is.....I think you are great.

Qaj the Fuzzy Love Worm
15-10-2005, 20:31:23
I had no idea LoC had put that together until I came here :) The expression on that closeup shot is priceless :D

MDA
17-10-2005, 11:32:06
Mmmm. Spongebob cake.

She's a cute one, keep her happy and enjoy her company. It seems like the only thing you can do right now that's worth doing. :(

Qaj the Fuzzy Love Worm
10-05-2006, 04:56:11
UPDATE (for anyone wondering) --

Boo got her feeding tube today. She's lost her gag reflex, and isn't capable of eating even the mush we make for her anymore.

Right now it's a low impact nasogastric tube (in through the nose, out through the stomach) but in a few months they do the surgical version through the stomach and chest walls, with a plastic cap on the outside of her chest.

I just got through learning how to set up the feeding tube & pump for an overnight feed about 5 minutes ago.


I'm in two minds about this. It's fantastic she's got the tube, she's been eating about 4 spoonfuls of food and drink per meal, and has been really cranky. I hear hunger can do that to a person :) But like I was saying to MDA earlier, it's like defeat. Acknowledging that she now needs MEDICAL INTERVENTION to stay alive.

SO! Now I'm relieved of a boatload of stress from trying to get her to eat, and have extra stress from operating the machine to feed her (and keep the three year old from pulling out the tubes :rolleyes: Thankfully, he seems much more interested in sneaking into the kitchen to turn the gas on at the stove instead :cough: :gag: )


Apart from the feeding tube, she's visibly deteriorated since the last update I posted here. I think her vision is going, as she stares at lights a lot now. Still likes the TV (bright light), still loves Spongebob, but can't say Spob anymore. In fact, her vocabulary is almost non-existant. She can barely crawl now, having lost most of the strength in her legs and trunk, though surprisingly she can still climb up onto the sofa and bounce up and down on her knees.

She spends most of the time in her pediatric wheelchair, which is this really nicely constructed sturdy thing with fantastic wheels and steering.

But on the plus side, her trip to the dentist last week revealed no cavities, and her pearly white sparkle now :D :D

I mentioned before we'll be lucky if she makes it to 12. Our revised estimate would make us lucky if she made it to six. She turns 5 in September.

I'm not really a man given to huge displays of emotion. But sometimes, it's overwhelming. I have my limits. It's no fun to have to discuss details like where we'll get a casket, or who'll perform the funeral services, but unfortunately we can't just put that kind of stuff off until it's impending.

Those kind of thoughts always seem to hit when you're lying in bed and unable to sleep.



MDA: Thanks for your good wishes, I appreciate it. Went afk - see paragraph three above for why :) :D

Asher
10-05-2006, 05:34:13
I'm really sorry to read all of this. It seems so unfair to everyone involved, especially her.

I really don't know what to say, this is the longest I've ever spent writing a reply here and I can't think of anything. I don't have enough worldly experience to offer advice, but I will say you and your family are in my thoughts.

I sincerely hope for the best for you and your family.

Asher
10-05-2006, 05:35:10
Have you gotten in touch with the Make a Wish Foundation? I see you mentioned considering it earlier.

DaShi
10-05-2006, 06:14:45
Qaj, still wish you and your family the best. :(

Gary
10-05-2006, 06:17:25
I wish you and your family strength in the coming months/years.

mr.G
10-05-2006, 06:21:19
Qaj, you are a supahdad - FACT!!
best wishes to you and the the family and mucho love to little Boo.

Spartak@CPH
10-05-2006, 06:28:57
Oh jeeze. This is just awful. Good luck to you all Qaj.

You know you always have a place to let off steam here.

Scabrous Birdseed
10-05-2006, 06:44:25
If you've got Asher affected you know you're seriously touching people.

I've read this thread half a dozen times now intermittedly for the past few months and it always makes me want to write something consoling but it's damn near impossible. I don't even know what to wish for.

Ginfizwithatwist
10-05-2006, 06:51:39
My heart goes out to you and your family, and i am saddened to hear of your daughter's deterioration.- I am afraid I didn't know you had been going through all of this when we were on Eve chatting,(neam) otherwise i would've asked after Boo.
It must have been hard for you when you had to start home medical intervention as it brings together the two worlds you'd rather keep seperated. If its possible to put a positive side to it, it will mean your daughter will be able to feed more comfortably and it will be safer for her too.
I was wondering if you would find any use in the following links, they are family support sites run by parents of sufferers - I know they are English but they may be able to provide links to a group near you.
You are all in my thoughts and my best wishes to you and your family to find all the strength you need.

http://www.bdfa-uk.org.uk
http://www.bdfauk.freeserve.co.uk

Funko
10-05-2006, 08:21:21
I don't know what to say either, Asher put it really well I thought.

Best wishes for you and your family. :(

Nav
10-05-2006, 10:08:58
Very sad to read this. I hope the best for your family in the future, and that Boo doesn't suffer too much.

Are there any charities that I could donate to that would help future research or current support etc? Would like to help, even if it's only a little.

Funko
10-05-2006, 10:16:53
Good idea.

MDA
10-05-2006, 11:18:14
I found one: http://www.bdsra.org/help.htm - there are links to other support and research groups on that site, it'll get you started at least. Most of what I'm finding is US centered, but that site had some international links.

I'm afraid I don't know much about that particular (or any) charity. There are probably lots of general "childhood disease" charities with good reputations in whatever area you happen to live in, but donating directly to a Batten's charity couldn't hurt. If you can find a reference for your charity that tells you how many cents on the dollar actually get where you intend them to go, it can help you choose a good one. Lots of the crummier charities soak up most of your money in overhead/administrative costs and very little actually goes where its intended. I tend to do my charity as a US gov. employee through the Combined Federal Campaign (http://www.opm.gov/cfc/)- their list of charities is huge, and they all have to meet a minimum effective cents-on-the-dollar amount to be listed. Unfortunately I tossed my list from last year's campaign just a few weeks ago. Spring cleaning. :(
I'm not sure there's a way (I'll just bet there is) for a non-gov employee to donate through CFC, but I could at least have found a list for you.

you could check out the following tips on choosing how and who to give charity donations: http://www.give.org/tips/giving.asp

I don't know much about Batten's other than its fairly recently been identified as one of those very nasty "lysosomal storage" diseases. Tay-sachs and Gaucher's disease are more well-known.

I'll hunt around the office today and see if anyone kept their CFC listing longer than I did. These people file everything and throw nothing away. :)

MDA
10-05-2006, 11:28:52
Batten's seems woefully neglected by government grants here, IMO.

another link: http://dbb.urmc.rochester.edu/labs/pearce/bddcrc/donation.htm

The first one I posted hasn't been updated recently - or part of it have but the rest is poorly maintained, I don't know.

edit: a third, of the site above: http://dbb.urmc.rochester.edu/labs/pearce/links.htm

Tizzy
10-05-2006, 12:05:28
Qaj, I'm so sorry to read this, best wishes to you all

The Norks
10-05-2006, 12:05:53
This must be heartbreaking for you and it always seems so unfair when a little one suffers like this with apparently no rhyme or reason. I have no direct basis for comparison but I did know a little girl, Rachel, who was diagnosed with liver cancer and her parents went through the same kinds of dilemmas. based on that, I think you're right that it is better to discuss things now because it helps to create some family unity and direction and it means that when the inevitable happens, its less of a shock and less stressful (if thats possible). In Rachel's case, i think that it allowed the whole family to focus on spending time with her,and making her days as happy and 'normal' as possible (you never saw a girl with such a well appointed barbie house!!). It didn't lessen the pain for her parents when she died, except in that they knew they had done everything they could for her. My only memories of her are of her smiling and being happy, even shortly before she passed away, and her older sister grew up very well balanced (they also went on to have another baby, katie).

I don't think anyone or anything can make this any easier for you, but maybe some support groups are out there who can offer reassurance and a network of understanding people? You sound like you need someone to vent to, who will understand what's happening to your family and share some of the burden. There might not be a specific group for that illness, but a more general one?

i hope you stay strong and that you all enjoy as much time together as possible. xx

Drekkus
10-05-2006, 15:22:38
Sometimes it so hard to accept how fragile and unfair life can be. :(

Kitsuki
10-05-2006, 15:33:51
I'm almost crying here, and I'm at work... :(

I hope you make the very best of the time you have and are able to cherish that forever; I really admire you for being so strong. I dont know how I could ever cope with being a parent.

MDA
10-05-2006, 15:41:11
You should have seen me welling up when Nav showed the full depth of his desperation by asking ME to help!

sorry, I use bad humor to deal with... pretty much everything that's seriously serious :(

and its incredibly satisfying to DO SOMETHING when you feel helpless, which is why I didn't even question his request at first

Koyaanisqatsi
10-05-2006, 15:42:41
:(

Don't know what else to say...

devilmunchkin
10-05-2006, 15:50:34
i almost cried too

Lazarus and the Gimp
10-05-2006, 16:46:07
As ever, my best wishes are with you. You're an example to all us Dads.

JM^3
10-05-2006, 17:03:42
I am sorry.

This world isn't fair sometimes. Your family is in my prayers.

Peace.

Jon Miller

paiktis22
10-05-2006, 17:47:01
Sorry to hear that. Courage and wishes for things to be as light as possible to you, your family and your daughter.

Chris
10-05-2006, 18:03:36
Hope, love and courage are three things we all wish we have in abundance.

LoC and you Qaj have all three in spades.

All the best, and remember, where there is life, there is hope.

Darkstar
10-05-2006, 19:12:46
I'm sorry, my friends. I didn't know or I'd have posted sooner.

Enjoy your time together, and keep her as happy as you can. I know you guys will do that, but it's the only thing I know that can be done.

We will try to be here for you, as best we can.

All of your family will be in my thoughts. Strength, Peace, and Love. Always.

Qaj the Fuzzy Love Worm
10-05-2006, 20:18:55
Thanks, as always, for your concern. I am always heartwarmed by your thoughts, kind words and well wishes. It's nice to see that even with some of the disagreements and personality clashes you see here, we really do function as an actual social group :) I really must remember to sent Jeff Morris a thank you postcard for that.

Batten's is indeed one of those nasty lysosomal disorders. Apparently, it's been classified as one of the "easy" ones to correct. Well, why haven't you corrected it yet, medical professions? Damn you and your misleading labels! :)

From what we've been told, the faulty gene is responsible for producing a garbage collection and processing enzyme in brain cells. There are a few planned research paths they're looking into - I know of two that are either trailling or going to trial soon: a stem cell graft into the brain which would require anti rejection drugs her whole life (which aren't ever really any good, as they tend to suppress the entire immune system to my knowledge); and another which attempts to rewrite the genetic code of the brain cells by splicing in healthy genes (and from what I understand about this, this method they're using has been 100% fatal on all patients). So not a lot of promise there. I did hear rumors of a drug that they wanted to try that they hoped would be able to get past the blood-brain barrier and provide the enzyme directly, but again from what I know the blood-brain barrier problem is a doozy.


We're not doing that badly, as a family. We have our moments when one or the other gets overwhelmed by Boo's condition, but for the most part life goes on as normal. You cope: you have to, because the alternative is NOT COPING, and that's unacceptable. Boo does not get served well or cared for well by people who don't cope.


For those of you who are at a loss for words, I understand. I never find it easy to do the same when the situation is reversed.


And! In other news... about a half hour after LoC started out on her trek to Stanford to get the tube put in, one of our cats was mauled by a neighbor's dog, jumped the fence and disappeared. About half an hour after I posted my last post she turned up on our doorstep with a massive wound on her leg. Cue trip to the emergency vet at 11:30 at night! The wound is pretty bad, but she got stitched up nicely and might regain the use of the leg in due time. The vet is currently looking after her while she recuperates.

That's not to say the problems of the cat are on par with Boo's or anything. But it's been a freakin' weird 24 hours, let me tell you. I'm really looking forward to the weekend where things might SLOW DOWN! for a little while :)


Oh, and MDA: :lol: Humor is the best medicine, bad or otherwise :)

Qaj the Fuzzy Love Worm
10-05-2006, 20:38:32
Oh, almost forgot: charities. There's not a whole lot of Batten's specific charities out there. It's a really uncommon affliction - I think there's something like 15 in California, and about half a dozen in Australia (don't know numbers for elsewhere). Because it requires a recessive gene carries by both parents, and both passed to the child, the chances of getting two defective people together, then the 25% chance of passing on both, makes for a thankfully rare disease. However, prepare to see it become more common as unaware carriers pass copies to their children (such as in the case of my family - one of my parents is a carrier, my sisters might both be, their kids might be etc.) But because it's a rare disease, it is (understandably) virtually unknown by the general population, which curtails charitable gifts, and also research interests.

The good news for us is that our neurologist at Stanford is actually one of the few people who is directly working on Batten's as a specific disease. If there was anything that could actually be done, we'd know about it.

LoC is already donating all the proceeds of her book to charity. We've got actually quite good insurance, even if they are asses most of the time when you don't badger them. LoC has also spent the past year or two looking up information and resources, and as was said earlier there's not much out there, but what there is we're pretty much familiar with.


Finally, Make a Wish Foundation and similar organizations: we contemplated it a while back, when she wasn't as far progressed along the path of the disease as she is. Right now, though, I can't really think of anything that wouldn't either go over her head, or totall freak her out. The stereotypical Make a Wish "trip to Disneyland" would last all of 15 minutes, since she would be in an unfamiliar place, surrounded by crowds and stressed family and gigantic-headed mice, and would have no idea what it's all about or that it's supposed to be fun. Batten's afflicated are said to rely heavily upon routine to function at all. We've noticed this: last December a trip to the local aquarium was over in about 30 minutes due to her not being able to understand or tolerate what we were doing, so we left early and went home, whereupon she calmed down. She watches TV, slowly crawls around, eats, sits with famiy and bounces on the couch :) And she LOVES her blankie her nan gave her when she was born, won't go ANYwhere without it (at least, not quietly :D )

So Make a Wish is out. Even if we could think of something they could and bring to her, I'm not sure she's got the cognitive ability to really even undersand or appreciate it. All things considered, I'd prefer they used their limited resources to make some other kid's dream come true, someone who can appreciate it. We'll stick to making Boo's remaining months as good as we can possibly make them, I think she'll appreciate that more.

Greg W
10-05-2006, 20:39:13
My thoughts are with you stil, mate. I just hope that... heh, I have tried to write something that fits, but nothing seems to come close... let's just say I hope.

The Norks
10-05-2006, 21:32:16
Qaj, you can tell me to bugger off if you like but reading what you said about Disneyland etc and how it might freak your daughter out, it put me in mind of something I saw on TV a while ago. I saw this prog about severely autistic and developmentally challenged kids- children who would never develop mentally essentially, and they showed this room which they used to stimulate their senses rather than expecting them to play or communicate in a way that requires them to understand abstracts like fun or sharing etc. Anyway- this room was fantastic- it was lit with moving coloured lights and panels of lights etc, it had all different surfaces and textures to touch, things that made noises, and there was ambient music etc. The kids who used the room seemed to improve in behaviour and understanding, as well as having loads of fun. Anyway i guess my point is that i thought maybe its something you could improv in a home environment fairly cheaply, or use elements of it that would make your daughter feel comfortable in her environment, but still give her loads of fun on a sensory level, instead of going somewhere that will freak her out.
Like i said, you can tell me to bugger off, but it was just a lateral thought I had, and i thought I'd throw it out there, but I don't know if its feasible or relevant for you.

Qaj the Fuzzy Love Worm
10-05-2006, 23:48:46
Yeah, we got something like that for her a few weeks back - got a paddling pool and filled it with brightly colored (yet soft) balls. She seems to like the odd dabble into the pool with the balls, picking them up and looking at them.

We have a lot of cats, and she sometimes likes to be held and presented with a kitty so she can tough their soft fur. Big smiles for that one :)

Bright lights fascinate her. Unfortunately, she'll happily stare at that big bright light in the sky when it comes out. So we try to keep her away from the windows :D But lightbulbs and the telly do fine as substitutes.

LoC got her a helium filled Spongebob balloon while she was in the hospital. She was utterly entranced by it, bouncing up and down, waving her arms around and yelling at it delightedly :) And she likes to stare at the big Spongebob mural on her wall at home (well, what's left of it after her dork brother licked most of it off... :rolleyes:)

So we might not have a high-tech room of sensory delight to keep her amused with, but we hope we're providing as much as we can given our limited resources. I think we're doing okay. But thanks for the idea :)

Oerdin
11-05-2006, 00:21:50
feeding tubes are a big grey area in my book but it is an intensely personal question. When my grandfather was dying of Parkinson's disease and it was getting so bad he could hardly swallow I can remember him saying he never wanted a feeding tube. He never wanted to be the guy hooked up to the machines and would insist that he do it all himself or not at all.

The hard part is an 85 year old man can tell us if he wants such medical treatment but a small child cannot. It's such a hard thing. Best wishes.

JM^3
11-05-2006, 00:38:32
Reading your posts, I never realised how lucky I was.

My sister (and best freind) died when she was 5 (complications of an open heart surgery). It was hard, but I (and my parents) at least had her able to play and do things with us before then (I was 7 when she died). (I think there were some limations (tiredness and the like) also, but I don't remember those well from that age)

Anyways, I hope that her time is happy, and that she is a blessing to your family.

peace,
Jon Miller

Chris
11-05-2006, 00:47:09
I don't know where you get the strength to take this.

I don't think I could, cheers QAJ.

The Norks
11-05-2006, 07:53:29
Originally posted by Qaj the Fuzzy Love Worm
Yeah, we got something like that for her a few weeks back - got a paddling pool and filled it with brightly colored (yet soft) balls. She seems to like the odd dabble into the pool with the balls, picking them up and looking at them.

We have a lot of cats, and she sometimes likes to be held and presented with a kitty so she can tough their soft fur. Big smiles for that one :)

Bright lights fascinate her. Unfortunately, she'll happily stare at that big bright light in the sky when it comes out. So we try to keep her away from the windows :D But lightbulbs and the telly do fine as substitutes.

LoC got her a helium filled Spongebob balloon while she was in the hospital. She was utterly entranced by it, bouncing up and down, waving her arms around and yelling at it delightedly :) And she likes to stare at the big Spongebob mural on her wall at home (well, what's left of it after her dork brother licked most of it off... :rolleyes:)

So we might not have a high-tech room of sensory delight to keep her amused with, but we hope we're providing as much as we can given our limited resources. I think we're doing okay. But thanks for the idea :)

sounds like you already have it covered ;)

Qaj the Fuzzy Love Worm
11-05-2006, 16:20:46
Originally posted by Oerdin
The hard part is an 85 year old man can tell us if he wants such medical treatment but a small child cannot. It's such a hard thing. Best wishes.

It's not so hard in this case. She's my daughter, I've gotten to know her. She cries because she's hungry and can't eat.

I can understand an adult making it clear they don't want a feeding tube. I think I'd be okay with one, if it was to bypass something like lack of ability to swallow, so long as my mind was intact. I figure it's in the same class of medical interventions as a prosthetic limb. Being hooked up to life support machines and being fed with a feeding tube after the mind has gone, though, that's a different question. What's the point? I am not my body, I am my mind.

My daughter's mind is still there, so the choice is easy.



Chris: if I want to find the strength to do this, I just have to look at her. I might not be able to save her, but I can do everything else in my power to give her what she needs in the meantime. Another easy decision :)

Chris
11-05-2006, 16:27:35
Better man then any of us, that's for sure.

Greg W
12-05-2006, 01:21:42
It's funny, you never know what you're capable of until you have to go through it. That's when you see just how much inner strength you have. Many people surprise themselves, and others who you'd think would be great, fall apart. Nobody knows what they're capable of, but Qaj has certainly shown his worth. In spades. :beer:

Also with kids, they don't understand abstract thoughts like dignity and pride - they don't look at a feeding tube like an 80 year old man does. To them it's just a thing, they don't get all bitter about having to live with it.

I have some understanding from being raised with a mentally disabled brother. Even with that though, I can't comprehend what Qaj and LoC are going through. It's just... amazing.

Frozen Frog
12-05-2006, 01:28:49
I just wish you guys keep finding the courage and serenity you need. Good luck. I don't really know what else to say.

KrazyHorse@home
15-05-2006, 09:14:45
I'm sorry to bump this thread, but by some set of circumstances it's gone totally unnoticed by me until now.

My eyes are half-filled with tears as I write this. All I have to say is that I hope that the rest of your daughter's days/months/years are filled with happiness. Since you're there to take care of her I'm sure they will be. Good luck.

Qaj the Fuzzy Love Worm
26-05-2006, 20:13:41
I woke up at 4AM this morning to the sounds of crying. Sometime during the night Boo'd managed to pull her feeding tube completely out. This was a decidely Bad Thing, since we have her on a feeding schedule whereby she gets fed 60ml per hour for 12 hours during the night (total of 720ml, 1ml per minute).

There's always a risk of her aspirating her meals if this occurs, which frightens the crap out of me.

From what I can tell, via stethescope (which you have to use every feeding - you inject 1cc or so of air down the feeding tube and listen for a "boomp" to ensure the tube is still in place in the stomach) she's breathing fine - no wet noisy bubbling, no indication of any fluids in the lungs. The visiting nurse may have to do a proper check sometime soon though just to be on the safe side.

LoC takes meds that make her extremely sleepy for about 10-12 hours, so during the night she's not too on-the-ball for some things. However, with her help, I learned how to insert a feeding tube currectly. Hurrah! With a new sticky bandage to keep it in place the feeding tube is back where it should be and keeping her alive :)


On a more positive note, her personalised pediatric wheelchair arrived today - a pleasant pink color I'm told. I shall have to photograph it (with her in it) and post it here :)

devilmunchkin
26-05-2006, 20:16:48
i would agree you should have it properly checked out. but that's just me..and i would probably have had a heart attack in your situation. and yes! lets see her pretty chair! i hope she likes it.

Qaj the Fuzzy Love Worm
22-07-2006, 01:53:43
Better late than never - I only pulled these off the camera a few days ago - I'm such a slacker :o

Greg W
22-07-2006, 02:36:20
Aw, such a cutie. :)

Chris
22-07-2006, 13:52:57
Sure is.

MDA
24-07-2006, 11:10:08
I'm digging her cool pink and black chair, too. You can tell she's cool because of the sweet ride.

Qaj the Fuzzy Love Worm
24-07-2006, 20:28:29
Another: http://photos1.blogger.com/blogger/4889/596/400/P1010008.jpg

Lurker the Second
24-07-2006, 20:35:42
Yeah, that's how pink is supposed to be flaunted. She clearly has a far better sense of style than certain posters around here.....

devilmunchkin
25-07-2006, 19:59:50
i can't believe how much she's grown! getting to be a big girl now :) and that chair is just cool! better be careful or she'll run you over :D

Japher
25-07-2006, 20:08:35
does she take it off any sweet jumps?

Qaj the Fuzzy Love Worm
25-07-2006, 23:07:51
Only when we're not paying attention to where we're pushing her.

She is indeed getting big. LoC asked be the other day "Have you seen Boo lately?" Of course, I said yes. "No," she said, "her teeth. She's missing a tooth. And another is loose."

Of course, I freaked out, thinking she'd taken a spill (not over any sweet jumps) and knocked one out. I was floored when LoC pointed out she was almost five and it's time she started losing her baby teeth. In my mind, she's still a baby. Freaked me out for a good long while :)

The loose one came out not long after, so now she's gappy Boo :D

devilmunchkin
25-07-2006, 23:50:17
5..wow. i feel old because it seems like just yesterday...
she's probably going to start growing like a bean sprout soon.

Japher
26-07-2006, 00:00:49
you got the Naepolean Dynomite reference right? - sweet jumps

Qaj the Fuzzy Love Worm
26-07-2006, 02:16:16
Absolutely not... never seen it.

devilmunchkin
26-07-2006, 17:26:01
Do we get to call her Boo the Fuzzy Love Worm?

Qaj the Fuzzy Love Worm
26-07-2006, 22:05:55
That's probably better than me calling her Booger I suppose :)

Noisy
27-07-2006, 16:24:56
You go away and all this stuff happens ... :(

Anyone seen Nell?