lorikrochow
Registered: 05/31/07
Posts: 1
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Reply with quote | #1 |
Dear Friends:
We recently discovered my Dad has FXTAS, however, many of the neurologists have no clue what we are talking about, even here in Houston.
We were scheduled to go to UC in June but my Dad's level of walking and increased fatigue has put us on hold. Can anyone share with me what the progressive orders are of this. He is still alert, somewhat forgetful, has the typical mask like facial expressions, incontinence of urine now with a catheter and over the past few days has been unable to bear weight on his legs, even with physical therapy working with him. We allow him to do as much as he can for himself, shaving etc. but of course we assist to finish and encourage as he just becomes exhausted even after a simple bath. Is this normal?
He is on only medications for symptomatic care which I know is about all they can do but I am a nurse and feel I am going to die if I miss something that could help him even a little bit. Please help. Is the trip very taxing on the patient and worth the effort at this point since he does sleep and tires so very easily? I feel so alone and desperate.
Help, and God Bless, Lori
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Terri
Registered: 01/11/06
Posts: 9
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Reply with quote | #2 |
Hi Lori,
My husband has FXTAS, and your father sounds a lot like my husband was several years ago. It took five years of worsening falling and walking problems before he was diagnosed. We live in Virginia, outside of D.C. We contacted the Hagermans at U.C. Davis because I saw their articles on the Internet - they wanted us to go out there, but by that time, we could not travel, because Vince couldn't walk well at all. We met Randi Hagerman briefly in D.C. that summer at the end of the Fragile X conference, and we are in contact occasionally. We sent Vince's MRIs to them, and they confirmed FXTAS, along with the DNA test Vince had.
Anyway, it has been a harrowing experience, but we adjust along the way with God's grace. I also had Vince do as much shaving and showering, etc. by himself for as long as possible. Now, he is 72 and has had FXTAS at least since 1999. At this point, he can only walk a little around the house with lots of help - I have two male aides - one seven hours during the day and one four hours in the evening. I totally burned out trying to do everything myself about two years ago, so I have help now. The aide holds vince up in the back, Vince and I put our hands on each other's shoulders, and I tell him to follow my feet as I walk backwards and he walks forwards, and we get around the house a little. I have chair lifts on the stairs, a ramp out of the house, a transport chair (lightweight wheelchair) for going out, which we do very little of these days.
Vince's mind is very damaged - he was a brilliant scientist. Now he doesn't finish sentences or thoughts; he sometimes gets confused about who I am or where he is, even though he's usually at home. Luckily, he is very content to watch TV or read all day in his recliner. He's very easygoing and not at all upset about having FXTAS.
Also at this point, the aides shower him and brush his teeth. I give him shaves and haircuts (he has a beard, so luckily that's not too often). He eats by himself - doesn't really have tremors much, so he can still use his hands pretty well.
Tired - oh yes! For years, he has tired very easily. I think now he is better than he was a year ago, when he was barely moving or talking. We started giving him Prozac (generic) in November, and that has helped him move and talk a little - not a lot, but better than it was. He is about to start Namenda which may help his mind a little.
Aside from FXTAS, Vince is healthy.
Between the beginning and where we are now, it has been a gradual decline, but now it's been stable for around a year.
Oh - incontinence - started gradually, now it's total. Vince is in Depends all the time - it's easier than it used to be trying to get him to the bathroom when he couldn't move well.
I only get through this with God, Zoloft, home health aides, therapy, et....
I've had to learn to take care of myself as well as Vince.
Please contact me if you have any more questions. Also, we have just started a listserv for FXTAS sharing. If you'd like to join, send me your e-mail address and I will add you - it involves getting a yahoo address, but it doesn't cost anything. My e-mail is tcorcoran53@verizon.net.
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Terri
Registered: 01/11/06
Posts: 9
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Reply with quote | #3 |
Hi again Lori,
I'm sorry that I didn't really answer your question.
I felt helpless like you at the beginning and I have been trying to do whatever I can to fight FXTAS. I've been keeping Vince otherwise healthy with good nutrition and supplements (which I consulted a nutritionist on - Vince's doctors don't object to the supplements, but they wouldn't have suggested them, because most doctors don't, except for CO-Q10 which is good for many things).
Exercise is really important - but difficult for us to do. I did what I could with Vince for as long as I could with exercise; I don't do much any more because I'm burned out from trying to get him to do things. I get him physical therapy about twice a year when Medicare will pay for it and the doctor prescribes it; I got him some speech therapy but that didn't really help. I ask my aides to exercise with him - they do a little.
I just keep praying to God that I am doing as much as possible. I can't kill myself in the process, so I do what I can, and give the rest to God.
We tried an alternative doctor last year, which is another long story. It was a difficult process, and I don't think it did much good because it made Vince very tired and involved his taking LOTS of supplements which he just couldn't keep swallowing.
Lately, I've reached a happy medium where Vince is very well cared for, and I am looking out for me too. In many ways, things are easier now that Vince doesn't get up from bed or his chair by himself because he can't do it without help. When he could still do it, he would get up and fall a lot - he did not understand that he needed help because his mind wasn't working, so that was a difficult time period.
If you contact the Hagermans for advice, you probably don't need to take your dad to UC Davis. They've been helpful to me by e-mail or phone - they are very responsive.
God bless you and please feel free to ask my anything,
Terri
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robynabc
Registered: 02/08/06
Posts: 9
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Reply with quote | #4 |
Hi -
My dad is a FXS carrier and is in his late 50's now. In 1990 he contracted Guillain-Barre (a virus that is like the flu or a cold.) Since then he is still affected by Guillain-Barre and he has developed diabetes. He has a lot of problems with weakess, tiredness and shakiness. Are these symptoms of the already diagnosed illnesses or is that how FXTAS starts??? Any help/information would be appreciated...
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Terri
Registered: 01/11/06
Posts: 9
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Reply with quote | #5 |
Weakness, tiredness and shakiness can all be symptoms of FXTAS. You can read my husband's experiences on this page in previous messages. Of course those symptoms can be from so many conditions. In my husband's case, all other illnesses were ruled out and only FXTAS remained. He doesn't shake much and he is still pretty strong, but always tired and can't walk except with lots of help, maybe just across a room. We have a listserv on FXTAS - it you'd like to join, send me an e-mail with your e-mail address and I can put you on the listserv. Contact me at any time at tcorcoran53@verizon.net.
Take care,
Terri
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jmoe
Registered: 05/04/07
Posts: 3
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Reply with quote | #6 |
I have a 30 year old son positive for FX. He is a full mutation with moderate retardation and autism. Overall, he has been very healthy, physically, and is mild natured and easy going. He lives in a group residence.
Just the past few years, we have noticed a slight tremoring in the hands. He came to our home for dinner tonight and the tremoring was very evident in both hands.
Has this been reported in adults with the full mutation? His grandfather has been struggling with FXTAS for ~10 years now and now I'm seeing it in my own son.
Jeanne
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Terri
Registered: 01/11/06
Posts: 9
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Reply with quote | #7 |
Hi Jeanne,
I always thought people with the full FX mutation did not get FXTAS later on in life, but I guess the doctors haven't been tracking it long enough to know. You could contact Dr. Randi Hagerman at U.C. Davis or Louise Gane, the geneticist who works with her - they are the experts.
How is your father doing with FXTAS? Is he very disabled?
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jmoe
Registered: 05/04/07
Posts: 3
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Reply with quote | #8 |
Hello
I am responding to the last message. My 83 year old Dad who has had FXTAS symptoms for about 10 years now has steadily declined and much more evident in the past year. He can still get up from chair on his own but often times after many tries. He can walk to couch and then later back to kitchen table without too much problem, although slow and stays close to a chairback or something to grab in case of inbalance. He is incontinent of urine and bowel and dependent on Depends. He can shave himself and bath. He tremors in both hands, more so in dominant hand. He continues to say he is in "top shape"! He won't admit he has needs and would never consider a nursing home. My 80 year old mother continues to care for him and she is becoming exhausted. My Dad also is insulin dependent diabetic and my Mom has to constantly surveil what he has eaten to figure out why his glucoses are up or down. She has to adjust his insulin. He detests having to take his blood sugar and can't understand why he just can't let it go! On Christmas Day, we had to pull him out of a low blood sugar reaction and when he comes to, he just starts right back where he left off totally unaware that he was out of it.
My parents are too frugal to hire an aide, but the 4 of us (3 daughters as carriers and one lucky son) are insistent that they begin to bring an aide into the home. It is becoming more evident to my mother that this will soon be a necessity. Anyone else who has a father with similar concerns at this time?
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Terri
Registered: 01/11/06
Posts: 9
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Reply with quote | #9 |
Hi Jeanne,
Your father is experiencing symptoms that my husband was having in his 60s - he is now 74 and totally disabled by FXTAS. For the past several years, Vince has been unable to stand or walk on his own; totally incontinent (wears Depends); his mind is probably 90% impaired; barely talks; can't do anything for himself except feed himself a little (he usually needs help with that too). If your Dad seems stubborn or has other personality changes or memory problems, it is most likely due to FXTAS. Vince is very easygoing and never complains, but he had a few years in the past when he could get irrationally very angry over nothing. Aside from FXTAS, he has no other health problems. We have two male aides - one who comes 6-7 hours during the day and one who comes four hours in the evenings - I burned out a few years ago and just couldn't handle moving Vince around or showering or dressing him anymore. He can never be left alone because his mind doesn't work. I definitely recommend hiring home health aides if possible - it can be very expensive, but like you said, I'm sure your mom is too old to handle all of it. I'm only 58. I hope this helps - please contact me anytime (tcorcoran53@verizon.net). P.S. You are all very lucky that your dad hasn't suffered from FXTAS until now.
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km8210
Registered: 03/30/06
Posts: 2
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Reply with quote | #10 |
Hello, my mother is a FX carrier with 4 kids. I am the only carrier out of the 4 of us and I have 2 out of 2 kids with FX syndrome in special ed.
My great concern right now is my mother. She has had tremors in both hands and falling for many years. She is 78 and recently experienced a stroke-like and or internal siezure-like episode. Since last week when she experienced something strange, she has been to many doctors who have ruled out stroke. I am not surprised since I have been self-educating myself on FXTAS. Since her episode she has started to decline a bit more rapidly. She is tired, her memory is not as good as it use to be and she is more unsteady. As she has recognized this, she is now afraid to drive. She knows she has something going on but can't explain it. Is this all typical of FXTAS? Also, does stress cause the decline to be more rapid than average? Anxiously awaiting to hear. My mom is still going to many docs and I have been educating them. They are only somewhat familiar with FX and can't answer if that is the cause. THANK YOU.
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