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ritzbit
02-02-2011, 07:30 PM
My doctor called today and offered to have me join in a new study group at the Childrens Hospital I go to. They are trying to find more links to lupus and genetics. They're taking my blood and both of my parents to see how my genes differ from theirs to learn more about genes that play a part in lupus. Me and my mom are really interested to see what they find with all of it. Has anyone else done something like this?

magistramarla
02-02-2011, 09:21 PM
Ritzbit,
This is cool, and I hope that it helps the researchers to show if there is something hereditary with AI diseases.
I had genetic testing done in Texas, but it was when the docs thought that I had a disease that would show up in the mitochondria,
called spinocerebellar ataxia. They ruled that one out.
The docs said that they would have liked to also test some immediate family members, but my mother, aunt and uncle who had
dealt with these symptoms have all passed on.
You are very lucky to get this done as part of a research study - it is HUGELY expensive. My insurance company just about had a cow
over my bill!!
Hugs,
Marla

kim,l
02-02-2011, 11:08 PM
no ritbiz but i wish i had i have inherited my lupus from my mother if they had these tests when i was young at least i would have known that i had the genetic disposition we now think that my eldest daughter sarah may also have inherited this off of me even though her test were negative her symptoms are exactly the same as mine and my mothers.so it looks like genetics can play a part in some groups of suffers. hugs good luck kim l

SandyR
02-03-2011, 08:16 AM
no I haven't but I think this is such an important step in proving what we already know as AI patients - there is some sort of familial link and it seems to be on our mother's side.

Hunniebun
02-03-2011, 01:42 PM
That's interesting, never heard of it and never had it done.

mountaindreamer
02-03-2011, 03:47 PM
hi ritz,

that is so cool. please keep us posted on any results. maybe, this process will help your mom learn, understand, and accept more about lupus and how it is affecting your life.

ritzbit
02-03-2011, 08:29 PM
The weird thing is no one except some distant cousin on my dads side has lupus in my family. I think my doctor was saying that she wanted to see if they could find out if there was a genetic reason behind me spontaneously getting it? I think thats what she said but I could be wrong. My dad oddly has a lot of the same issues as me, but hasn't had insurance until about a month ago so he nevers goes to the doctor so Im kind of interested to see if there's a link to him. The only reason we get to do it is because the researchers got money to begin their trial so the tests are basically going to be free, but only if its started next week which is why I had to move my appointment up a week to this coming Monday. I have no idea how long test results like that will take to get back but I will let everyone know when I know more about it =)

magistramarla
02-03-2011, 08:49 PM
For me, it took a long time for the results to come back. There is only one commercial lab in the country that can handle genetic testing - called Athena, somewhere on the east coast. It was kind of cool - they sent a special nurse to my school to collect several vials of blood. We used the school nurse's office - she was fascinated.
The vials were placed in a special cooler and quickly flown to the Athena lab. The report that they sent my neuro was thick - I still have the copies that he gave me.

Since you will be part of a university study, they might have genetic testing facilities on the campus. That might make the results come back much faster.
Keep us informed about your adventure!
Hugs,
Marla

ritzbit
02-07-2011, 05:14 PM
So I got all my blood taken for the testing today. Found out while I was there I didnt do well on my 6 min walk test like I thought I did =( I might need some test where they have to go in and look at my lungs or something. I was at 4 standard deviations under whats normal, which doesnt sound very good. So my doctor has to find someone who can look at my lungs who is an adult doctor not a pediactric. The word schleroderma was thrown out there. And during the appointment we got a call that our family friend was killed today =( she is my brothers car pool to school and my mom takes home her son who is my brothers friends. We've known them for like ten years. Her and her husband were found dead in their home today. It doesnt look good...probably murder suicide =( Its so upsetting they were such good people and had the sweetest little girl. I've babysat for them before.I cant believe this happened to them..=( my mom was really upset. I cant wrap my brain around this. I dont know how things like this happen to such good people. I feel like up until now I lived in the mind set that things like this wouldnt happen to people I knew, but this is the second time in the past few months something terrible like this has happened.

debbie-b
02-08-2011, 05:11 AM
Oh Ritz,

I am so sorry that you have to deal with such horrible news.

Debbie

SandyR
02-08-2011, 10:30 AM
I'm so sorry to hear this bad news. It is always shocking when bad things happen to good people we know so well. I hope their child wasn't hurt.

lovehubby
02-08-2011, 10:47 AM
Hi my brother and my mother and my sister all have MS. My mother has passed away now but I know that they ? ether she had lupus or not do to the red face unexplained fevers and flu like symptoms. I know that MS is a AI condition. But here is the kicker my sister the same one with MS has Lupus. Not all her blood is positive but her Drs. have already told her it could take a long time for the blood to show positive. I know this is true because it took years for mine to so positive for Lupus. Are Grandmother and your Aunt on my moms side had RA. My sister also has a rare blood clotting disorder. They said it is genetic. So I truley believe that this all runs in some familys. I know it does in mine.

ritzbit
02-08-2011, 05:07 PM
It doesnt in my family at all. No AI problems except me, thank god. I wouldnt wish this on any of my family members. On the topic of blood clotting problems, my doctor just said something about how I was slightly positive for that once before, but she never told me that until yesterday. I like knowing everything even if its not significant.

We found out from the autopsy that she died of a heart attack, probably after their big fight, and then her husband probably found her dead because he killed himself... Im so glad that their kids were at their aunts. They sent them there for the night, Im guessing because they were fighting. Its just so upsetting that they're gone, but its a relief to know that its very unlikely her husband killed her then himself. Still just terrible though. Those kids lost both parents in one night =(

Peridot_Gem
02-08-2011, 05:41 PM
Hi Ritzbit,
I think it's brilliant mate genetic testing.
My blood specialist when i saw him told me he wants a DNA test next time i go, well unless they've done it on my parent's and kept the files they'll be lucky to find anything, my dads been dead 8 years and my mom 6 but all i can remember is my dad having symptoms to the Raynauds nothing else.

magistramarla
02-08-2011, 09:38 PM
Hi Ritzbit,
I'm sorry to hear about you having such upsetting news. It was good that the kids weren't there, but very sad that their Dad didn't consider that he was making them orphans.
When my youngest was 12, she was spending the night with a friend. The two girls went downstairs, they found the other girl's Mom dead in the downstairs restroom.
They had to go wake the Dad up to tell him. He was great, and very apologetic to us. He even made sure that Meg got to go to counseling along with his daughter. That was a tough thing for those girls.

I'm so glad that your docs are finally checking up on your lungs and heart! Since they mentioned scleroderma, it's sounding more and more like my DX - Mixed Connective Tissue Disease. Google it, and see if you agree. It can have an overlap of symptoms from several AI diseases. My rheumy in Texas mentioned Lupus, Sjogren's, RA and Psoriatic arthritis. I also have some Raynaud's symptoms, as I know that you have. Scleroderma and Polymyositis are also common overlap diseases in MCTD.
I'll be interested to hear what they finally determine for you.
Hugs,
Marla

ritzbit
02-09-2011, 06:34 AM
Thats terrible. Im sorry your daughter had to see that. I cant imagine that happening. Kids should never have to see that. Let me see if you agree with this by the way. Its svery inappropriate to show two parents bodies being removed from their home on the news, right? Because while watching the news last night they did and I wrote somewhere that I hope someone sees that I thought that was terrible because one day those children might see that, and no child should see their parents in body bags being taken out of the house they grew up in. It just made me really angry at the news station that showed it.

And originally for the first 6 months I went to my rheumy she labled it MCTD but she said thats what she was labling it because she wasnt sure what I had. Then she told me I have Lupus so I didnt think anything of it because she told me she thought that was what I had from the get go but she wasnt ready to call it that yet. The only reason she thinks that is because she said people with lupus dont often have lung involvement? and that its more common with people who have scleroderma. If I find out I have something else, that we could have known I had for like 2 years, and we didn't know because she thought that my lungs were fine Im going to be mad. I have always told her its when Im up and doing things and she always had me doing these tests where I was just sitting or lying down; those tests showed nothing. It wasnt until my 6 min walk test that anyone thought that I wasnt just "out of shape". Little bit frustrating.

Oh and I've been telling her for MONTHS that I have noticed my pulse is just weirdly really high all the time and her conclusion was "you never take your pills" when I tell her I do. So she's been thinking thats why my BP and pulse have been higher than they should be especially when Im on medicine that should be keeping it really low, which it used to. Now that she's listening to me she was saying that might be tied into the lung problems I've been having. Sorry for such a long post lol

mountaindreamer
02-09-2011, 08:10 AM
hi ritz,

i am so sorry to hear about your friends, especially their children. i have been told that when people reach the point of suicide that they don't think of others involved, i just can't imagine a parent not thinking about their children....

wow, girl, you have grown so much....you now stand up for yourself, and you fight for good medical attention....hooray for you.

i am sorry that you are in a position to take this control, but i am so proud of you for getting to this point. you just keep stepping forward, and don't let anyone set you back.

debbie-b
02-09-2011, 01:29 PM
hi ritz,

i am so sorry to hear about your friends, especially their children. i have been told that when people reach the point of suicide that they don't think of others involved, i just can't imagine a parent not thinking about their children....

wow, girl, you have grown so much....you now stand up for yourself, and you fight for good medical attention....hooray for you.

i am sorry that you are in a position to take this control, but i am so proud of you for getting to this point. you just keep stepping forward, and don't let anyone set you back.


That is what I was thinking too. Our baby is all grown up now.lol

No really Ritz, if I had this testing available to me, I would do it as well.

Debbie

SandyR
02-09-2011, 02:16 PM
Good for you Ritz! Glad to see you sticking up for yourself. Don't let go of that, it's the only thing that will keep you at your healthiest.

And yes - I agree with you about the news. I've had to experience it too. When my uncle was killed 2 years ago by a drunk driver it made major headlines on all the tv, internet and print media both locally and nationally. It was, and still is, a very hard thing to come across images of his car in flames and know that physically his body was in that burning ball of twisted metal and yet his life was already gone. The images hit the newswaves before his son, who was on a camping trip upstate in the woods, or his parents, who were on vacation out of state, were even notified. It is still hard to see these images and I know especially for my cousins, aunt and grandmother, these images are physical manifestations of their worst nightmares. Unfortunately, a big part of the problem is the media aspect of the news and the ratings angle and the need to sensationalize one person's worst nightmare for another person's entertainment or ratings. Good for you for writing that letter. It's good for those kids to have someone they know cares about them on their side.

magistramarla
02-09-2011, 02:23 PM
Hi Ritz,
Yes, I hope that the aunt did a good job of shielding those children from all the news.
As for Meg, I think that the experience helped to make her the person she became. She was later a lifeguard at Sea World and was credited with saving three lives.
She was once the first responder to a roll-over accident. She happened to be nearby, training a horse. She dragged the couple out of their truck and administered CPR to the man before the ambulance arrived.
Ironically, she has also survived a roll-over in her own truck. She's a very strong young lady.

I'm proud of you too, Ritz. You're doing a good job of advocating for yourself. You've made me wonder about the lung problems that I've had all of my life. I had recurring bronchitis and walking pneumonia when I was a teen. I was never able to do much of anything without getting out of breath, even when I was young and in great shape. Last summer, when we were walking around Santorini, my hubby really got worried a couple of times when I got out of breath and my heart was racing. Does this sound familiar to you? Lucky for me, I've always had a very low BP, so that isn't a factor for me.

How I wish that some smart doc would actually be interested in putting all of these puzzle pieces together.
Hugs,
Marla

ritzbit
02-09-2011, 02:30 PM
Those kids are so sweet, and so good. I watched them a few times and I didnt deserve to be paid. They finished homework, ate dinner, then one would go play video games(the boy who is friends with my brother) and Abby would ask me to do something with her like watch a movie or play a game. Its so upsetting that they are alone now aside from their older brother. Their parents cared about them so much, and did everything for them. Abby was their little princess. It came out today that our friend was beaten up by her husband =( her autopsy report described alot of bruises, though they werent the cause of death. They still say she died of a heart attack after they fought and he cut a major vein in his arm later that night which killed him =( its so sad. I just hope the kids make it through this hard time. I cant imagine being 13 or 8 and losing both of my parents, especially in this way.

ritzbit
02-09-2011, 02:48 PM
I was never able to do much of anything without getting out of breath, even when I was young and in great shape. Last summer, when we were walking around Santorini, my hubby really got worried a couple of times when I got out of breath and my heart was racing. Does this sound familiar to you? Lucky for me, I've always had a very low BP, so that isn't a factor for me.

Thats me! Im ALWAYS out of breath. And when Im out of breath, I yawn. So Im basically yawning all the time and feel self conscience because I imagine it looks weird when you do it all the time lol My heart POUNDS when I get up and do anything. During my 6 min walk test, which was just walking at a normal pace up and down a hallway for 6 min, my heart rate was up to 160! Doesnt that sound just a bit high for an 18 year old who is on medicine that should keep her pulse down around 80 or 90? I thought so. I had a normal BP before I started taking Norvasc, then it dropped down to where my bottom number was always in the low 70s. Now its jumped back up to like 86 or higher some days even while Im on my medicine and my doctor said that shouldnt be happening. I feel like maybe I worry too much sometimes though. I dont know I guess I'll know more once she's talked to these people about what they think of my test results.