Not diagnosed

[Lannette Yorgason]

I have been told, by my doctors, that the closest diagnosis they have for what my illness most resembled was aHUS. How can they not know if this is my diagnosis?  Did anyone else receive an answer like that or how was your diagnosis confirmed?'

[Cheryl Biermann]

Hy Lannette,

 

Please loot at the aHUS Boot Camp for labs and also invite your doctors to get your genetic testing done.  There is a doc to doc registry on the home page, and any of these docs would be happy to talk to yours and give them the important information that you need.  

 

Please keep in touch.  My heart goes out to you as the doctors search to find your diagosis, maybe they are under the assumption that it is strickly a children's disease?  It is not.  There are other adults on our site who would be glad to talk to you.  Prayers go with you.

 

[Lannette Yorgason]

Thanks, Cheryl. My doc is working to get genetic testing approved with my insurance. I was admitted to the hospital in January 2009. All they could tell me for sure was that it was not TTP b/c of the lack of the Adams T-S 13 and not HUS because of the lack of e-coli bacteria.  I have an incredible doctor who is quite experienced with ttp, but not HUS. She is busily educating herself, however.  Since she could not give me a ttp or an hus diagnosis, ahus was the closest diagnosis she could come to, but is not sure that was my disease. I'm hoping the genetic testing will give answers, but without it, how are people given this diagnosis?I went back to see her a couple of weeks ago because I am exhausted all of the time, easily fatigued and my muscles ache. All testing(thyroid, muscle enzymes, lupus, etc) came back normal, so she was looking for answers going this route. I will look into the bootcamp. My computer is down, so I am doing all o this on my phone. Can't see everything, but I'll hunt!  I appreciate your help.

Cheryl Biermann said:

Hy Lannette,

 

Please loot at the aHUS Boot Camp for labs and also invite your doctors to get your genetic testing done.  There is a doc to doc registry on the home page, and any of these docs would be happy to talk to yours and give them the important information that you need.  

 

Please keep in touch.  My heart goes out to you as the doctors search to find your diagosis, maybe they are under the assumption that it is strickly a children's disease?  It is not.  There are other adults on our site who would be glad to talk to you.  Prayers go with you.

 

[Cheryl Biermann]

Hi, I'm concerned about your lethargy, it is sometimes the first sign activity is gearing up again; so please if you get any worse, do not hesitate in getting to the hospital.  The boot camp is great because it will teach you what your lab values should be, and how different doctors, nephrology vs hemotology might treat you. 

 

This disease is a tricky little bugger so don't give up!  Doctors don't diagnose because of the genetic testing, they will diagnose on what activity you have, the genetic testing helps sometimes determine which treatment to use, if they waited for genetic testing to get back things could get very bad.  I am happy to hear she is working on it, I hope she contacts our volunteer doctors as well, they will be of invaluable help.

 

 

annette Yorgason said:

Thanks, Cheryl. My doc is working to get genetic testing approved with my insurance. I was admitted to the hospital in January 2009. All they could tell me for sure was that it was not TTP b/c of the lack of the Adams T-S 13 and not HUS because of the lack of e-coli bacteria.  I have an incredible doctor who is quite experienced with ttp, but not HUS. She is busily educating herself, however.  Since she could not give me a ttp or an hus diagnosis, ahus was the closest diagnosis she could come to, but is not sure that was my disease. I'm hoping the genetic testing will give answers, but without it, how are people given this diagnosis?I went back to see her a couple of weeks ago because I am exhausted all of the time, easily fatigued and my muscles ache. All testing(thyroid, muscle enzymes, lupus, etc) came back normal, so she was looking for answers going this route. I will look into the bootcamp. My computer is down, so I am doing all o this on my phone. Can't see everything, but I'll hunt!  I appreciate your help.

Cheryl Biermann said:

Hy Lannette,

 

Please loot at the aHUS Boot Camp for labs and also invite your doctors to get your genetic testing done.  There is a doc to doc registry on the home page, and any of these docs would be happy to talk to yours and give them the important information that you need.  

 

Please keep in touch.  My heart goes out to you as the doctors search to find your diagosis, maybe they are under the assumption that it is strickly a children's disease?  It is not.  There are other adults on our site who would be glad to talk to you.  Prayers go with you.

 

[Grace]

Hi Lannette,

 

Welcome! I first got sick at the age of 19 (I'm 30 now), and it's always been HUS/TTP. The fact that your doctors know your illness wasn't caused by E coli or a deficiency in ADAMTS13 is a big step forward in my opinion. And you seem to have a good doctor! Low complement levels at the time of presenting symptoms are suggestive of complement-mediated disease, and therefore aHUS, but if they're normal it does NOT rule it out. 

Ten years ago, it didn't really matter if it was aHUS or TTP because the only treatment was plasma. Now eculizumab is increasingly shown to be effective in aHUS, and rituximab is increasingly used in TTP. So now all the current papers are recommending routine genetic testing for complement abnormalities, as the results will affect treatment guidelines.

Bear in mind that there is still much to be learned about the genetics of HUS. In the last 11 years, great, incredible leaps ahead have been made, in a large part due to dedicated members of this foundation raising money and interest. But we still don't know everything. However, eculizumab has been shown to be effective in patients for whom there is no known genetic mutation.

I hope this makes some sense, but please ask if you want more or different info. I've learned from my own experience and that of others here that this is a complex disease, and no two patients' stories are the same. For me, the first episode was the most dramatic and subsequent relapses were not so clearly HUS (not that they weren't just as damaging)--so listen to your body and trust your instinct. 

Grace

[Cheryl Biermann]

Ah, Grace as always you get to the heart of the matter, thanks for such a clear explanation.  Lannette, maybe someone could print a copy of the boot camp for youl, it might come in handy, since your computer is down.

Grace said:

Hi Lannette,

 

Welcome! I first got sick at the age of 19 (I'm 30 now), and it's always been HUS/TTP. The fact that your doctors know your illness wasn't caused by E coli or a deficiency in ADAMTS13 is a big step forward in my opinion. And you seem to have a good doctor! Low complement levels at the time of presenting symptoms are suggestive of complement-mediated disease, and therefore aHUS, but if they're normal it does NOT rule it out. 

Ten years ago, it didn't really matter if it was aHUS or TTP because the only treatment was plasma. Now eculizumab is increasingly shown to be effective in aHUS, and rituximab is increasingly used in TTP. So now all the current papers are recommending routine genetic testing for complement abnormalities, as the results will affect treatment guidelines.

Bear in mind that there is still much to be learned about the genetics of HUS. In the last 11 years, great, incredible leaps ahead have been made, in a large part due to dedicated members of this foundation raising money and interest. But we still don't know everything. However, eculizumab has been shown to be effective in patients for whom there is no known genetic mutation.

I hope this makes some sense, but please ask if you want more or different info. I've learned from my own experience and that of others here that this is a complex disease, and no two patients' stories are the same. For me, the first episode was the most dramatic and subsequent relapses were not so clearly HUS (not that they weren't just as damaging)--so listen to your body and trust your instinct. 

Grace

[Lannette Yorgason]

Grace, thank you so much for the information!  Too valuable!!!  I will call you soon. I look forward to your knowledge and appreciate your willingness to share it. Cheryl, I will do just that!  Thanks for the idea!

Cheryl Biermann said:

Ah, Grace as always you get to the heart of the matter, thanks for such a clear explanation.  Lannette, maybe someone could print a copy of the boot camp for youl, it might come in handy, since your computer is down.

Grace said:

Hi Lannette,

 

Welcome! I first got sick at the age of 19 (I'm 30 now), and it's always been HUS/TTP. The fact that your doctors know your illness wasn't caused by E coli or a deficiency in ADAMTS13 is a big step forward in my opinion. And you seem to have a good doctor! Low complement levels at the time of presenting symptoms are suggestive of complement-mediated disease, and therefore aHUS, but if they're normal it does NOT rule it out. 

Ten years ago, it didn't really matter if it was aHUS or TTP because the only treatment was plasma. Now eculizumab is increasingly shown to be effective in aHUS, and rituximab is increasingly used in TTP. So now all the current papers are recommending routine genetic testing for complement abnormalities, as the results will affect treatment guidelines.

Bear in mind that there is still much to be learned about the genetics of HUS. In the last 11 years, great, incredible leaps ahead have been made, in a large part due to dedicated members of this foundation raising money and interest. But we still don't know everything. However, eculizumab has been shown to be effective in patients for whom there is no known genetic mutation.

I hope this makes some sense, but please ask if you want more or different info. I've learned from my own experience and that of others here that this is a complex disease, and no two patients' stories are the same. For me, the first episode was the most dramatic and subsequent relapses were not so clearly HUS (not that they weren't just as damaging)--so listen to your body and trust your instinct. 

Grace

[Linda Burke]

Hi Lannette,

      We offer the "Doc to Doc Directory" on our Home Page specifically for this type of thing.  It's a free service by our wonderful volunteer physicians, who are experienced in multiple aspects of aHUS issues - and it can be a valuable time-saver for your doc.  It's a great way for your physician to discuss your medical case with knowledgeable colleagues and to ask specific questions, rather than scanning medical journals/articles and looking for general info about aHUS. 

[Danna Vaughn]

Ma'am,

It took several doctors close to two weeks to diagnose my niece with aHUS. There were just too many issues and symptoms that did not "match up". They initially diagnosed her with ulcerative colitis and/or Krohn's disease. When they began to treat her for that, the treatment did not work. In the meantime, her kidneys shut down and her blood/oxygen counts plummeted. They began plasmapheresis and dialysis, along with a transfusion here and there. She was on a ventilator at one point (eight days after her arrival through the ER). She had a colon biopsy, a lung biopsy and a kidney biopsy at various times throughout the initial onset. I believe it was the kidney biopsy (that was sent to Emory Hospital in Atlanta) that finally confirmed the diagnosis. It was a terrifying time for us all. aHUS is so rare; I don't believe any doctor looks for that right away. From what I've learned about this disease, each case is different, making your diagnosis that much more difficult. So, yes, my family and I got an answer like that. Hang in there! Most of the info that we've acquired has come from this website. It is a Godsend! We're still learning, as my niece has only been out of the hospital for a couple of weeks.