The Atypical HUS Foundation

Deborah Deffenbaugh
  • Female
  • Rochester, NY
  • United States
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Deborah Deffenbaugh's Friends

  • Jonathan Aguallo
  • Dana M Simone
  • maria vicenta carratala rios
  • Crystal Ferreira
  • Kamal D Shah
  • Alyssa Deffenbaugh
  • Sylwia Antkowiak
  • Lisa Goble
  • Kathy Yates
  • Cheryl Biermann
  • Joy Lewis O'Brien
  • Svetlana Finley
  • Phyllis Ann Talbot
  • Linda Burke

Deborah Deffenbaugh's Discussions

Soliris and Kidney Transplant
25 Replies

Our insurance carrier recently approved the use of Soliris in conjunction with a kidney transplant for Alyssa.  She has 2 defects in her I chromosome and a thrombomodulin alteration, any one of whcih…Continue

Started this discussion. Last reply by Deborah Deffenbaugh Jan 12, 2011.

 

Deborah Deffenbaugh's Page

Latest Activity

Deborah Deffenbaugh commented on Kris Carrender's blog post My 19 year old daughter diagnosed with aHUS....we think
"Hi Kris.  Your situation sounds hauntingly familiar.  My 21 year old daughter had very similar experiences (and blood counts) when she first became ill.  She is now 26 and has had a kidney transplant and is on Soliris. …"
Nov 8, 2013
Deborah Deffenbaugh commented on Phyllis Ann Talbot's blog post Yeah - for the t'plant kids out there - just a big slap up the side of the head that their immune systems aren't normal!
"Hi Phyllis--I hope Hyde is better..it is so disconcerting when any symptoms appear because as parents, we fear the worst.  hopefully the virus has about run its course.  Take care and give Hyde our best!   We will say a prayer…"
Feb 26, 2013

Profile Information

Birthday
December 4
Do you have a friend or family member diagnosed with aHUS?
Yes
Are you medical personnel or an aHUS researcher with an interest in aHUS issues?
No
My child ( or myself as a patient) is best described as:
Factor I (CFI)

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Deborah Deffenbaugh's Blog

Going to three weeks between infusions--post transplant

Alyssa recently asked her  doctors whether she could move to three weeks between her Soliris infusions because she ended up going three weeks due to an illness she had on the week she was suppose to receive Soliris last month. Dr. Kouides (her hemotologist) spoke to her nephrologist and transplant team and the doctors in Iowa and has decided to go ahead with the three week plan.  They plan to keep a  close eye on her blood levels during this trial, but I am wondering if anyone else who is…

Continue

Posted on November 22, 2011 at 8:40am — 2 Comments

White cell count issues

I haven't posted in awhile now about Alyssa post- transplant as she has been doing great.  We are almost at the 6 month mark now, using Soliris every two weeks, 1200 mg.  Unfortunately, she has recently encountered some new blood problems and I am wondering if anyone has any knowledge or expertise in this area.  Her white cell count has dropped to 1.4 (should be between 4-11)   and her neutrophils are 3 when they should be between 45-75%.  She is leukopenic and neutropenic, and the Doctors have… Continue

Posted on April 15, 2011 at 7:42am — 5 Comments

A Truly Thankful Thanksgiving

There are many reasons to be thankful at the holiday season and we all take many of our blessings for granted on a daily basis until something happens that completely turns our world upside down. Losing our health is one such event for sure. We enjoyed a very thankful holiday this Thanksgiving with Alyssa and her donor Jennifer seated at the same table. As Alyssa pointed out, Jenn's two kidneys were both at the table--but in two different bodies!!! Strange but true. Alyssa has been feeling so… Continue

Posted on November 29, 2010 at 9:34pm — 3 Comments

Alyssa is out of the OR

Alyssa is not back from recovery yet but her surgeon reports that all went well and she is making urine!!!!Hooray!!!If anyone is interested in the details, please go to Alyssadupdate.blogspot.com. Everything went quite smoothly and I want to thank everyone for their support and prayers. It means so much more than I can express to have this a-HUS Foundation family!

Posted on October 26, 2010 at 3:20pm — 13 Comments

Comment Wall (15 comments)

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At 2:30pm on October 26, 2010, Jodi Kayler said…
Your family is in our thoughts today.
At 6:53am on October 26, 2010, Phyllis Ann Talbot said…
Deborah - Alyssa and entire family are in out thoughts and prayers today and in the weeks coming up - best of luck today!
At 11:07pm on October 25, 2010, Linda Burke said…
Thinking of you... I put this in our Prayer Forum: Prayers for Alyssa's Transplant Surgery:Loving Father, we entrust Alyssa to your care this day; guide with wisdom and skill the minds and hands of the medical people who minister in your Name, and grant that all effects of illness be removed, that Alyssa may be restored to soundness of health and relearn to live in more perfect harmony with You and with her beloved family and friends. Amen
God Bless you all !
At 11:36pm on October 19, 2010, Kathy Yates said…
What a beautiful daughter you have! I wish you all the best on Oct. 26. I will be thinking and praying for you all on your special day, cause what a special day it will be, one that you will never forget. Your families future is looking bright. Please give us updates on her progress, perhaps we can compare notes. If you ever need someone to talk to, I am here! As parents with a child with a rare genetic disease, we need the support of others, we certainly can't do it on our own. Am thankful for this site and it's support!
At 8:49pm on December 6, 2009, Grace said…
Hi Deborah, There doesn't seem to be much rhyme or reason in my experience with aHUS (is there ever any?). When I was first diagnosed, I was on dialysis for six weeks, at which point I had regained about 50% of my kidney function, which I lost four months later. I didn't have significant hematological symtoms at the time, but the biopsy showed active HUS within the kidney. It did coincide with tapering off prednisone, so it is possible it wasn't a "new" relapse, but merely remnant disease activity that had been suppressed by prednisone, but I don't think anyone will ever know for sure. Then I was stable for 4 yrs of dialysis and 2 yrs of a transplant. Then I spent three months being treated for HUS in and out of the hospital, at the end of which I was back on dialysis. I don't know why the relapse at that particular time, and as far as I know I've never tested positive for any of the genetic factors, though I still working on verifying that. Right now my kidney function is negligible, but every little bit matters to me! How is Alyssa's facial swelling? My face swells when I've got too much fluid weight, often more in the morning, before gravity pulls it to my legs. I lost a lot of solid weight after being in the hospital, but I recently gained it all back--I'm not too thrilled. I have a round face naturally, and being on prednisone makes me extra "cheeky". But overall I'm pretty stable on PD, and glad to hear Alyssa is tolerating it well.
At 6:56pm on December 3, 2009, Grace said…
HI Deborah,
Welcome! I had aHUS at 19 and a few relapses. Because of my age TTP was considered, and still used rather interchangeably. Although genetic associations have only been confirmed for about 50% of cases in either disease, the mechanism is probably different. AHUS seems to map to a defect in complement regulation (part of the immune system) and can manifest in low C3 (sometimes also C4) levels, indicating increased consumption. TTP maps to ADAMTS13 and the von Willebrand factor, which are involved in the clotting cascade. Howvever, the symptoms are very similar and as long as the treatment is the same the diagnosis doesn't matter. In my experience doctors tend to treat empirically (as in try everything, and maybe something will work).

I wish you & Alyssa all the best. If I can do anything, just let me know.
At 5:02pm on December 3, 2009, Colette Ann Frysz said…
Hi Deborah!

I actually live in Cheektowaga. If you go to the Anderson's on Main Street or Union Road I live very close to either. I live on Beach near Cleveland Dr. Cleveland dr is an exit off the 90. I'm a very short few blocks from that exit.

I believe at this time they are using Soliris when there is an active situation. We are trying to see if it can be used for transplantation. It only makes sense to try it then as my daughter had a recurrence when she was transplanted. I know what you mean as far as if you're doing the right thing.
At 4:28pm on December 3, 2009, Cheryl Biermann said…
hi Deborah, I think you can probably forget about TTP, it would have impacted her mental status...so the mutation in l probably is the trouble maker, also, they are developing newer & more fine-tuned testing that will hopefully lead to more information as around 50% of people are idiopathic!
At 9:18pm on November 23, 2009, Linda Burke said…
Hi there!
We hope you've received some interesting pieces of information from website that add support to your family's situaton or perhaps lead you to explore a variety of avenues as you seek information. Iowa is indeed a wonderful place to gain detailed knowledge about your family's medical information. On the Home Page you'll find a Links Box that will bring you directly to the aHUS genetic testing piece, and three members of that great U of Iowa aHUS team are website members here. Most of us, of course, fall into the categories of patient, friend, or family - but we hope as we share our experiences you will gain insight and support. We welcome your participation within this interactive site of The Foundation for Children with Atypical HUS.
At 8:46am on November 23, 2009, Colette Ann Frysz said…
Hi Deborah! Yes we are practically neighbors. Yes I can help a little with Guillan Barre and HUS. Guillan Barre and HUS have the H factor deficiency as its common denominator. It took me years to finally get an answer on this but I persisted as I felt there was a connection between my disease and my daughter's. Mostly she and I presented the same in our respective diseases. We both did not have classic symptoms and it took us a long time to get to where others got quickly. Also I do know that there is a form of Guillan Barre that is a chronic condition. Could your husband possibly have this form instead of what the doctors say? I'd say that about ten years after I had Guillan Barre, my father had worked with a man and he was diagnosed with the chronic type of Guillan Barre. It is a very slow debillitating disease and eventually it does take everything. However I hadn't heard of anyone else with it. Guillan Barre and atypical HUS are both quite rare. When I had it there was no treatment rendered at all. You were simply monitored and if you were going into respiratory failure, your body would be assisted and hopefully you'd regain your function. At the time I had it too I was one of the youngest cases. To this day, no one knows why or how I got it. I did not have a flu, cold or mono which are supposed to be ways to get it. The only way it was confirmed was through a spinal tap. Also I had the subdeural hematoma at age three months and there was no known cause for that either. My husband, oldest daughter, Jessica and myself though are all Factor H deficient. The most interesting pare to my story and Jessica's is that only she and I had Factor H diseases. I don't know what the connection to the hematoma is but I do feel it's part of the entire puzzle. I do wish I could tell you more on either front but I think in the forty years since I've had Guillan Barre, there's been little progress at explaining it. There has been some progress at treatment but I don't believe we know too much more as to its cause than we
do HUS. I always feel like I swim in questions and they constantly float about cause they are left unanswered. But I hope this helps a little. At least I do know what Guillan Barre is. How is your husband coping? What kinds of physical issues is he dealing with? How are you coping with both your busband's and your daughter's diseases? If I can help in anything else, give me a jingle. In the meantime, keep hope and God's graces close to you.
 
 
 

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The Foundation for Children with Atypical HUS encourages patients and investigators to share information and explore options/resources as we work together to gain insight into this rare complement disorder. By increasing contact opportunities with researchers and medical personnel interested in helping the aHUS community, our stories foster a better understanding of atypical hemolytic uremic syndrome.

Sharing information, inspiration and support for one another, we seek to gather together people and knowledge as we strive to improve the lives of patients and families dealing with a diagnosis of aHUS.


NEW DIAGNOSIS OF aHUS?
Be proactive! Get the medical basics of aHUS, what lab values to monitor, and areas of concern...check out the "aHUS Bootcamp" and "About aHUS" tabs at the top of this page!
If your doctor has never treated a case of aHUS, please print out our 'Doc to Doc Registry' and ask him/her to contact a physician versed in the complexities of aHUS and new options for 2011 genetic testing and treatment.

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NOTE: Our 'Send a Message" function on each Member's page allows for private discussion of personal content. As with any social network, be cautious about giving personal contact information (home email info, phone number) until you have an established relationship with another person, organization, or associated website.

 

Did you know...

CFH (Serum Complement Factor H) is a regulatory protein. The secreted protein product of CFH consists of 20 repetitive units named "short consensus repeats" or SCRs (each approximately 60 amino acids). In patients with aHUS the last 5 "pearls" in the twenty pearl strand protein, SCR16 - SCR20, should bind to protect cells but do not- they are defective in one or more of the last 5 SCR locations. If they cannot bind or stick to the kidney to protect that tissue, the platelets clump into clots that affect the glomeruli of the kidney -potentially causing acute renal failure.
  
• • • • • • • • • • • •
  
It is estimated that there are about 300 cases of aHUS in the U.S., and it is most common with young children. The condition is life threatening and either can be chronic or can recur at intervals.
  
more factoids...

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Your tax-deductible purchase of one or more bracelets will directly fund research to help that aHUS families live with every day. Each bracelet has an appraised value of $825, but your purchase price is only $295.

  

  
Or you can donate a specific dollar amount-every dollar will help our research efforts of the Foundation for Children with atypical HUS at www.atypicalhus.org and www.atypicalHUS.net


Donations may be made via credit card or Paypal. If you prefer, checks made payable to The Foundation for Children with Atypical HUS may be mailed to:

Foundation for Children with Atypical HUS
C/O Deborah Lewis
PO Box 333
Barnhart, MO 63012


For pearl bracelet orders, please allow extra time for processing checks. Questions about aHUS donations? Please email Linda@atypicalhus.org


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