Brother recently diagnosed

My 32 year old brother was recently diagnosed with Wilson's Disease. He has neurological problems that seem to be getting worse. My parents, my sisters and I feel so helpless and have no idea where to go next. My mom who has been a registered nurse all her life feels like he isn't getting the best care that there might be available for this terrible disease. We all feel like we're sitting back watching him slowly die. We live just south of Kansas City, KS and are in need of a specialist who would be able to help my brother. My parents are willing to travel anywhere that would be willing to help him. Our family is astounded that this diagnosis has been missed all of my brothers life. When he as 10 years old he began having mental problems showing signs of illness such as obsessive compulsive disorder and depression...he has also had other problems such as jaundice and when he had his gall bladder removed a few years ago the doctor noticed he has scirrosis of the liver...but not a doctor one ever suggested or even thought of testing for Wilson's Disease. Then about 6-8 months or so ago my brother started having terrible tremors in his arms/hands and began having spells where he was passing out and this is when a neurologist finally put all the symptoms together and made this awful diagnosis. We have been told that he may or may not recover from these neurological symptoms but he seems to be progressing instead of showing improvement. If you know of anyone who might be able to help we would be very greatful.

By -Melissa-
Posted March 9, 2009 at 9:06 pm
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Hi Amy,

Glad you found this site. I'm sorry that your brother is having such a tough time. Unfortunately since Wilson's Disease is so rare, it isn't typically something that doctors test for. I hope that since he has been diagnosed that he is on medication? Which one is he on? If he's having neurological problems, I would probably stay away from Pennicillamine, since it can cause the neurological symptoms to get worse.

I would also get in touch with a Wilson's Disease Center of Excellence. You can find a doctor on the Wilson's Disease Association website: www.wilsonsdisease.org I live in Minnesota, but travel to the University of Michigan Hospital to see a doctor there who specializes in WD. If that wouldn't be too far for you guys to travel, I would recommend that facility. Also, try getting in touch with the Wilson's Disease Association, because they will be able to recommend different doctors who are familiar with WD and maybe some closer to where you live.

WD is a treatable disease and some of the damage and effects can be reversed once medication is started. It generally takes 2 years for the healing to take place once being on medication and sometimes there will be minor set backs during the healing process.

Best of luck and let me know if you have any other questions.

~Melissa

By Brennie
Posted March 10, 2009 at 6:28 am
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Hi Amy,

My son (19) was diagnosed last October. I know what you mean about the detioration first. It is terribly distressing but with the right treatment improvement will come. My son has the neuro symptoms as well which are very slow to heal and very frustrating for everyone caring for him. The main thing is to get him started on treatment. They started my boy on pen and his symptoms got worse. That may have happened anyway but the group here are adamant that Trientine is the way to go for neuro patients. He is on Trientine and BAL at the moment. The KF rings have lightened considerably which means he is well decoppered but his brain is now struggling with repairing itself. His behaviour can be very moody and his rational is sometimes off the wall.
Keep in touch as there is a great deal of help available here. Good luck with your search for a good doctor.

By AmyKofKS
Posted March 10, 2009 at 11:40 am
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Thank you for the encouraging words. I am just becoming educated on WD and any info anyone can give me is much appreciated. My brother is taking medication but I don't know which one; I will ask my parents. In the reply, Melissa, you mentioned it generally takes 2 years for healing. I am just curious, do you have WD and know this personally or is this a statistic and just known about WD? At this point it would be encouraging news to know there is hope for my brother...that he may have a shot at life...that he may not die. My mom said the neurologist he is seeing right now told her the other day that he may not recover from the symptoms he is having so right now we (his family) don't know what to expect and are very sad. Watching the progression right now we are afraid of the possibility of death. I have been on the WD Association website and did print out a list of doctors for my mom to try to contact so maybe we are taking steps in the right direction. Again, thanks for your response.

By -Melissa-
Posted March 10, 2009 at 12:34 pm
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Hi Amy,

Yes, I have WD. I was diagnosed in January 2007 at the University of Michigan Hospital. I presented with mainly liver symptoms, but also had some set backs and developed mild neurological symptoms during the healing process. The copper builds up in our bodies from the time we're born and eventually gets to high enough levels to poision us and make us really sick. It takes time for the medication to chelate (remove) the excess copper from our system. During this process it can leave "holes" or spots in the brain or liver, but over time, the body is able to regenerate and do some healing. Because the copper is removed from the body quickly, that can cause an increase in symptoms and some setbacks. I always thought of it as taking one step forward, two steps back. It can get discouraging, but you just need to keep truckin' right along, because things will eventually get better. Maybe not perfect or totally back to normal, but your brother and your family will begin to notice improvements. I was often told that it takes 2 years for the body to recover and heal after being diagnosed and on medication and to me that seemed like forever! I just wanted to snap my fingers and be back to normal. Around a year and a half after diagnosis, I really noticed that things were better and I was back to my old self.

Just know that you aren't alone. We all go through this when we get the WD diagnosis. Being diagnosed with a chronic illness is devistating and it takes time to accept it.

As far as the Neurologist implying that your brother might not recover or die. I'm so sorry. I really think you should find a doctor that is knowledgable on the disease. A lot of doctors haven't seen a real case of WD or heard about it since they were in medical school and most of the time that information is super old. Here is a great resource on the practice guidelines and treatment for WD written by a WD expert: http://www.aasld.org/practiceguidelines/Documents/WilsonDisease2008.pdf

Also, you could also try contacting the President of the Wilson's Disease Association, Mary Graper, she might be able to help your family find a good doctor for your brother to see. Both of her sons also have WD. Her email address is mltgraper@aol.com

Please find out which medication your brother is on ASAP, because if it is Pennicillamine that can be causing further damage, especially with neurological symptoms. Syprine (Trientine) is the current chelator of choice for WD. Don't give up!!

Let me know if you have any other questions.

Best of luck~
Melissa

By AmyKofKS
Posted March 10, 2009 at 2:06 pm
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Melissa:

I do have another question for you. Do you know if there is any financial assistance available to people with WD?

Also, my brother is taking Syprine.

Again, thanks for your encouraging words.

By -Melissa-
Posted March 10, 2009 at 3:25 pm
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Do you mean financial assistance like government assistance? I think you would have to check with your state about that. I think some people are able to get on disability through social security, so you could check into that. It can be a long process with applying and proving your case. I met a guy who was diagnosed the same time as me who presented with neurological WD and couldn't work anymore due to his symptoms and he told me that it took awhile to be approved for disability. We've kept in touch.

~Melissa

Glad your brother is on Syprine!

By pedsrn9999
Posted March 10, 2009 at 7:43 pm
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My 21 year old son was diagnosed in August of last year and ended up needing a liver transplant. He does have tremors and they are still pretty evident and don't seem to be decreasing but that could be because of the meds he is on. WD is a wicked disease so be sure to get the best medical care you can get. I wish you the best.
Shirley

By esther2k5
Posted March 12, 2009 at 1:46 am
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If you need financial assistance for the syprine contact the distributer, Aton Pharma at 1-877-ATON-549
http://www.atonrx.com/patcare.asp

Wilson's may be the only genetic disease that has a number of effective treatments and considering that it's such a rare disease, I, truly feel that I am very fortunate to have this particular condition. Neuro symptoms do improve gradually so your brother is on the right track. You're a wonderful caring brother!
Esther

By esther2k5
Posted March 12, 2009 at 2:56 am
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I just searched online and found this neurologist , Richard Dubinsky, affiliated with the University in Kansas City. Given that he's with the university he should be knowledgeable. Here's 2 locations & #s for him:
1) Richard Dubinsky MD University-Kansas Neurology -
(913) 588-6820
3599 Rainbow Boulevard # Ms2012 Kansas City, KS 66160
and
2) Richard Dubinsky MD (913) 588-6970
Ku Medical Centre Kansas City, KS 66160

Anyway, check him out and let us know what happens.
Esther

By esther2k5
Posted March 12, 2009 at 3:08 am
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Oh and here's the web page I found on Dr. Dubinsky: http://tinyurl.com/b5ooxz (shortened from a very long url on findlocaldoctor.com)
Esther

By esther2k5
Posted March 12, 2009 at 3:32 am
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Sorry, Amy, you're a great sister!--I didn't notice your name earlier and here's more info on Dr. Dubinsky.

His credentials are truly outstanding:
kumc.edu/instruction/medicine/neurology/staff/biosketch/dubinsky.pdf

https://referral.kumed.com/weblink/phyPro.do?poid=KS22173

I was impressed and think that if he can't take your brother as a patient he'll refer him to a good specialist.
Esther

By AmyKofKS
Posted March 12, 2009 at 10:02 am
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Esther: Thank you so much for your help. My brother is currently seeing a neurologist and is looking into maybe traveling to Northwestern University for a clinic. I will also give the doctor information you found to my mom so she can check into this as well. My brother, unfortunately doesn't have any insurance and isn't able to work so he is in need of financial assistance for everything. One of my other sisters and I are working frantically to pull things together for him. We have already contacted the drug manufacturer and are in the process of filling out the paperwork to see about assistance.

You mentioned that the neurological symptoms do improve. My brothers symptoms seem to be very severe...his arms tremor constantly (he even has a hard time sleeping at night because of the tremor), his hands and shoulder are stiffening, my mom has to help feed him and shave him and dress him and give him his medicine. Do you know of anyone with this severe of symptoms and have they improved from them? We are all so scared at this point that he may not recover or worse yet, he may die.

Again, thanks for your help. I am so glad I found this website and can exchange emails with everyone and to know that there is a glimmer of hope.

By Brennie
Posted March 12, 2009 at 11:24 am
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Yes there is a girl in UK who was diagnosed in Sept 07 with symptoms just like your brother. She could not walk ,talk and tremored all the time. She is back in college this term with little or no side effects. I know it is very scary just now, My family went through it with my son as he got worse but eventually things start to get better. You might get mood swings then and untypical behaviour but thats all part of the healing. Keep your hopes up there is great support on this site.

Take care

By esther2k5
Posted March 12, 2009 at 5:02 pm
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Yes, neuro symptoms do slowly improve with consistent treatment though some of the neurological damage may be permanent--time will tell. Progress will be slow and gradual and may take up to two years. Just hang in there and keep the faith.
Esther

By Sis2WD
Posted May 29, 2009 at 5:44 pm
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Amy,
My sister started showing SEVERE symptoms out of the blue; uncontrollable hand tremors, drooling, unclear speech, she couldn't brush her hair, button her pants, tie her shoes. She was diagnosed in 1995 with WD and once she was "de-coppered" her symptoms were almost 100% gone. Only her immediate family noticed any remaining symptoms.
Fast forward 15 years, she is starting to struggle again because she wasn't taking her medicine properly. I spoke with her WD doctor from the U of Michigan (Dr. Brewer) and he advised that WD is definitely treatable as long as you take your medicine. She is now prescribed Syprine to remove the copper again and was advised that in a few months the symptoms should decrease and she will eventually be back to the way she was after the first round.
I know it is very hard as a sibling to watch your brother go through something so traumatic. WD is very cruel because the individual digresses so rapidly. Please have faith and be patient and supportive. Seek out as much information as you can-it is out there.

Welcome to Inspire!

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