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Update from Grzybowski Patient


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#1 BC Gal

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Posted 07 June 2013 - 11:26 PM

Hi everyone,

 

It has been a couple of years since I last posted but I wanted to share some quick updates on my disease in the hopes that I might be able to help someone else that is struggling with it. Unfortunately my symptoms have gotten much, much worse and in February 2011 I had a hypertensive crisis and went into kidney failure. I am now dialysis dependent and am hoping to have a kidney transplant in the future. I have lost the vision in my left eye, my hair is falling out. This disease continues to disfigure me and attack my connective tissue all over my body. I am in pain every day. Life is so hard some days, I feel like no one understands what I am going through. 

 

I have exhausted all of my medical options in Canada and will be travelling to the Mayo Clinic in Rochester in a short time. I will be sure to come back and share my experiences. 

 

In the meantime, if by any chance there is someone else out there that also has Grzybowski Syndrome, please please contact me. Maybe we can help each other.

 

Take care everyone,

 

BC Gal 

(Annie)



#2 miocean

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Posted 09 June 2013 - 05:33 PM

Dear BC Gal,

Its good to hear from you and thank you for updating us. I am so sorry you are going through all you are and hope the Mayo Clinic can provide some answers.

 

Grzybowski Syndrome is a very rare disorder for those new to the forum. Although I don't understand much of what you are going through I relate to the dialysis as I was on hemodialysis for 5 1/2 years before a transplant. I know how very rough that is...and with all the other complications of another disease. If I can help you in anyway with that, I will. I am familiar with the transplant process in the States but am not sure how that would apply to Canada. What type of dialysis are you doing?

 

I wish there was a way for you to connect with others going through the same thing but with so few known cases it must be hard. Just remember, we are here for you.

 

miocean


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#3 Shelley Ensz

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Posted 10 June 2013 - 09:16 AM

Hi Annie,

 

Welcome back!

 

Oh my, I am sorry to hear what you have been through and are going through. I'm sorry you lost vision in one eye, and that you are on dialysis.

 

I can't find very much info on Grzybowski Syndrome.  We've had the one article that Miocean linked on our site for years, as it is a scleroderma-like illness. What I have found doesn't mention vision loss or renal failure, but there seems to be a dearth of information on it. So you can help educate us all about it.  Can you tell us whether blindness and renal failure listed symptoms of the disease, or due to some additional cause?

 

I'd recommend that you continue to hang around here to share support and information, because we serve those who are interested in scleroderma and related illnesses and symptoms, whether as patients or caregivers of some sort.

 

:emoticons-group-hug:


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Shelley Ensz
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International Scleroderma Network (ISN)
Hotline and Donations: 1-800-564-7099

The most important thing in the world to know about scleroderma is sclero.org.

#4 Joelf

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Posted 10 June 2013 - 12:17 PM

Hi Annie

 

How lovely to hear from you again, although I'm so sorry that you've got so many worsening health problems.

 

I can't add any more to Shelley and Miocean's helpful advice, but what I can do is give you my very best wishes for your treatment at the Mayo Clinic in Rochester and hope that something can be done to improve things for you.

 

Kind regards,


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#5 miocean

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Posted 10 June 2013 - 03:09 PM

Hi Annie,

 

I was able to find this abstract on Grzybowski Syndrome. It mentions methotrexate as a treatment. Have the doctors in Canada tried that?

Many on this forum have used it for treatment of scleroderma. Perhaps the doctors at Mayo would be interested in it. 

 

I was able to find this by searching on Google Scholar. You would have to pay a fee to access the entire article. It might be worth it to view the article if you haven't seen this already.

 

Please stay with us, it must be terrible to be so alone. I thought scleroderma was rare!

 

miocean


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#6 BC Gal

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Posted 11 June 2013 - 11:23 PM

Thanks for the replies everyone. Your words of support and understanding mean a lot. 

 

Miocean, yes, my doctors and I have tried all of the drug therapies suggested in the few research papers that exist. We also tried cyclophosphamide which nearly killed me, it's a brutal drug but I was willing to try it because I am so desperate. It had some effect but I had to go off of it after only 4 months. The other drug therapies had little to no effect. 

 

When I first experienced kidney failure I was on hemodialysis for the first nine months. Now I am doing peritoneal dialysis every night (9 hours) which is dreadful.

 

I will be sure to come back and share my experiences at the Mayo once I return.

 

BC Gal