The Atypical HUS Foundation

Our daughter, Phoebe, 7 years old, was diagnosed with aHUS on Thanksgiving weekend 2012.  On Thanksgiving, our very healthy daughter woke up vomiting.  We assumed she had a stomach virus.  By Sunday, we knew she wasn't o.k.  She was pale and had slightly yellow eyes.  She was extremely lethargic and was still vomiting. 

Her original numbers from day 1 at the hospital were:

11/25/12
hgb = 5.5
platelets = 12
creatinine = 2.39
BUN = 154
LDH = 909

 

Our doctor informed us that it was aHUS and told us that there were options for treatment.  They ran a bunch of blood tests.  Her C3 was low, but her C4 was normal.  They sent her blood to the lab in Cincinnati.  There they found that her Factor H autoantibody was at 3,500.  From what we understand, the level should have been between 0 and 22. 

 

From this finding, our doctor informed us it is genetic.  We sent Phoebe's blood to Iowa earlier this week for the genetic test.  The doctor wanted to wait until her blood levels were better before sending out for the test.

 

Phoebe was released from the hospital a week after going in.  Her body responded to the plasma infusions very well. 

 

When she was released from the hospital, her blood levels were:

12/2/12

hgb = 7.5

plt = 149

creatinine = .99

BUN = 57

LDH = ??

 

In the hospital she received 1 platelet transfusion, about 4 blood transfusions, and 3 plasma transfusions.

They gave her two vaccination shots (pneumonia & meningococcal).  We were told that Soliris might be a possibility.

 

Several days later, Phoebe's platelet and hgb levels started going backwards.

 

Our doctor put Phoebe on CellCept (mycophenolate) and prednisone (steroid).  The doctor then had Phoebe go into the hospital for 2-3 plasma infusions a week.

 

We were told that this should be the first method of trying to get this episode of aHus into remission.

 

Little by little the numbers have gotten better.

 

Her numbers on 1/4/13:

hgb = 12.1
Platelets = 255
creatinine = .44
BUN = 17
LDH = 242

 

From what I understand, the plasma helps block the negative effects of the autoantibodies.  Suppressing the immune system will theoretically shut her immune system down and have it stop creating these antibodies. 


We were originally told that we would be able to pull Phoebe off the plasma and see what happens, but I don't know when that will happen.

 

Our doctor has always left Soliris as a last option.  Our doctor made it clear that she was discussing Phoebe's case with many different doctors around the world.  We have since talked to one of those doctors in Cincinnati.  This doctor made a lot clear and we felt that the way things were going were good.  We have been frustrated with the time the infusions take since the hospital doesn't have an infusion room.  Phoebe has to be admitted and the whole ordeal takes 8-12 hours.  We feel terrible about having a seemingly healthy girl spend that much time in a hospital bed.  But we felt the plan was good, even though my wife and I are somewhat uncertain about the end game.

 

We initiated a second opinion in early December from a hospital in Chicago that we are sure has had cases of aHus.  We weren't able to meet with this doctor until 1/3/13.  By this date, Phoebe's numbers were very good.  This doctor said that we should stop the CellCept, taper the steroid, and go straight to Soliris.  He said Phoebe would get 1 infusion a week for 4 weeks and then 1 every other week.  He said that the plasma should stop because we are allowing Phoebe to develop antibodies against a blood product, which could complicate a future kidney transplant if one is needed, although he stressed that is quite unlikely.  He said that he would keep Phoebe on Soliris for 3 - 6 months.  Then we would take her off it and see if her factor H antibody levels stay in the right range.  We understand that we have a lifetime of monitoring and that she could always have a relapse.

 

This sounded like a good method of attack.  But we talked to a third doctor who didn't completely disagree with the idea of Soliris, but said that he would definitely keep Phoebe on the immune suppression because we need to make sure we stop her body's ability to produce the antibodies.  Also, he said that the plasma seems to work for now and doesn't see any pressing reason to jump to Soliris at this time. 


Now we are a little confused because her numbers are so good, it doesn't seem right to stop the current treatment, and we have been given hope that we will stop the plasma very soon.  We are nervous about starting another round of infusions if they aren't necessary.  However, the doctor who recommends stopping treatment makes a lot of sense.  But so do the other doctors.

 

I know many people who belong to the foundation have far more experience with this than we do.  We also know that each case has variations.  But we are curious to hear from anyone willing to share with us thoughts on these three ways to treat:

 

1. Plasma (once a week to once every other week) + immune suppressant (cellcept and prednisone).  We have gotten great results so far, but in the midst of the worse whooping cough and flu season the country has seen in decade(s), we are terrified about her immune system being shut down.  We seem to be tapering off the plasma, but the infusions seem to take forever.

 

2. Soliris + immune suppressant (CellCept and Prednisone)  This doctor's argument is that if we don't suppress the immune system, then when we take her off Soliris, we run the risk of the antibodies being created again and having a relapse.

 

3. Soliris  (We are told the Soliris infusion is 30 minutes and the whole experience can be done in about 2 hours because it would be done in an infusion outpatient.  We are also told that the Soliris won't shut her immune system down like the cellcept so she will be less at risk of getting sick.  Plus this doctor says this the more sure way to treat the illness).

 

We will continue to post more information as we progress.  Any info you want to share with us is great.  Otherwise, thank you for having a foundation like this.  We have learned a lot and with an illness that makes one feel very alone, it is nice to have a community.

 

 

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Comment by Linda Burke on February 15, 2013 at 1:58am

If you have not yet explored comments in the Soliris forum, I'd encourage you to visit

http://atypicalhus.ning.com/forum/topics/soliris-1.  Have you called 1-888-SOLIRIS to gather information and ask questions?

Comment by Cheryl Biermann on February 14, 2013 at 9:10am

ran out of room on the android.  Anyway, don't let the change happen because of costs.  If the science is good, then you are fine, if it isn't and the change is made, make sure they are willing to go back to Soliris as a back up.  there may be a cure one day, we never thought results like this would happen in such a relatively short time, in our case, approx. 10 years when we heard about Soloris.  Let us know what the doctors think, okay, these particular mutations, ect. are eventually going to be fine tuned, not all may need Soloris for life, we just don't know, but the science needs to be there!

Comment by Cheryl Biermann on February 14, 2013 at 9:04am

I have the same question as Donna, ask your doctor his reasoning.  We will fight tooth and nail if they ever try to take Nathan off.  Like Jonnathan, he was long-ter, five years spent battling the disease, then 5years watching his slow decline.  I'm assuming from your post they want to do this treatment to replace Soloris?  Not in conjunction with it?  There needs to be science behind any change, don't accept we think this may happen or that may happen.  i know it is incredibly expensive, and we all need to hold the care givers accountable if we see the price out of line with Alexion's retail price, which I know sometimes happens.  we need to all watch these hings to make sure our kids aren't taken off something and put on an inferior plan

Comment by Donna Kolp on February 13, 2013 at 4:37pm

Hi Judy!

Wow, you have had your share, and your son as well!!! So thankful that Jordan is able to receive Soliris! My question is does the Dr. think Jordan immune system is not what it should be, hence wanting to give him the Gamma Globulin? And why supress his immune system at the same time? My son did plasma infusions for 18 1/2 years, and just started Soliris in January.

Here's hoping we get to see your son play in the NFL!!!! :)

Donna

Comment by Judy Warner on February 13, 2013 at 2:24pm

  My son Jordan is 11 yrs old. He LOVES FOOTBALL and plays footbal for a rec league!                               Yay, Baltimore Raven's!!!! Superbowl Champions!! :) He wants to play for the NFL one day. 

  On June 25, 2012 he called for me to come in the bathroom to look at his pee. He said it was really dark. I went to check this out and I was shocked when I saw that his urine was dark brown! I called urgent care and they said to bring him in. The doctor examined him and she noticed bruising on his back and in other areas of his body. They were not the "usual" bruises that you would expect from an 11 year old boy. She also noticed little red dots on his legs, chest, back, feet and hands...pretty much everywhere! She was suspicious and instructed us to go to the hospital "now" for immediate blood work. We drove to the hospital. They did blood work, and while waiting ,I noticed Jordan's skin coloring was very "yellow". Gotta love florescent lighting. He was scared because he thought this visit was only going to be a short stay, maybe a urinary tract infection or something minor. Boy, were we wrong! The doctor's got the labs back and said they were not capable of dealing with this. They said we needed to go by ambulance immediately to Hershey Medical Center's Children's Hospital. I continued to comfort Jordan and reassure him everything would be okay. We arrived at Hershey and went to the E.R where they took more blood samples for testing. This was Jordan's first experience giving blood and he was queasy and very sad and unhappy about it. He just kept asking me if we could "just leave'. :(  , so painful to hear from your child. He was admitted shortly after that. The next morning a doctor showed up and discussed the blood test results to us. It was aHUS. I had never heard of this before. I was blown away by all of the science involved...all of the big words etc.. By that night Jordan was having a blood tranfusion, then another one the next morning. Neither transfusion did anything. I was in total disbelief at this time! Both of us! Consciousness became a fog for me, but I did notice that I took in everything the doctor said from that point on. I made a journal and I kept all lab results and compared numbers every day. The doctor told us about the Equlizumab (Soliris) treatment and that it had just been approved for use in the USA in September 2011. He wanted to try this on Jordan but he would need to give him a meningitis vaccine shot immediately, before starting the Soliris infusion. He got the vaccine and started the Soliris the next morning.His beginning numbers were K=4.5 / BUN=54 / Cret=1.77 / WBC=7.08 / Hgb=8.3 / Hct=22.6 / Plts=8,000 /               I found out much later that his LDH was over 6,000.

  After the Soliris treatment his counts slowly rose each day. Jordan could not eat anything and he was sleeping  alot! He lost 10lbs. while in the hospital for a week. They almost had to tube feed him but he chose to rather drink a horrible liquid diet. This was breaking my heart watching him go through all of this. I know he didn't like it either, but by day 3 he was a barrel of laughs and full of spirit. He made the best out of a bad situation, for sure. He still slept alot and hated the blood work needed, but accepted it as "necessary". I could not have been prouder of him! :) 

  We both have had our health battles in life. I had breast cancer in 2004. Mastectomy, reconstruction (for a year to fully complete) and chemotherapy... all being a new single Mom of 3 children. Now aged almost 21, 14 and Jordan 11yrs old. Breast cancer recurrence in 2009 followed by 35 radiation treatments 5 days a week for 7 weeks..while working full time. We are fighters! Jordan has been on Soliris for 7 1/2 months now and is doing great! His genetic testing came back in December 2012 and results were : 2 deletions of the CFHR3-CFHR1 genes were detected. The deletion is associated with the development of anti-Factor H antibodies and aHUS.

  Jordan's doctor is thinking of trying him on Gamma Globulin, Cell Cept, Cyclophoshamide.... I read up on these drugs and procedures and I am not liking what i am reading about it. Side effects etc..Sterility! I am thinking, why stop something that is doing its job? I realize things can change, but I don't want to put my bay through any unnecessary pain and stress and also possible long term terrible side effects!

 If anyone can relate or if you just want to comment...please do. :)

  Is anyone going to the conference in New Jersey in April?

  Thanks for listening, Judy 

 

Comment by Kimberly Tressler on January 12, 2013 at 10:39am

My daughter was newly diagnosed this September and has been on Soliris  since September 8th.  She does Soliris only.  She has extreme reactions to plasma treatments due to food allergies.  The plan is she will be on Soliris for life or until something better comes along.  She is doing great on Soliris and we are so thankful our doctor is familiar with aHUS and Soliris, without it I doubt our daughter would have left the hospital.

Comment by Donna Kolp on January 11, 2013 at 3:51pm

Hi Brett!

Let me just say that the information I am sharing is what we went through, and as you may or may not know, not all those that have aHUS, have the same reactions, or even symptoms as everyone else, hence the "syndrome". My son Jonathan was diagnosed almost 20 years ago with this disease. Up until the beginning of this month, Jonathan was on plasma transfusions, 3x a month, without any immune suppressant. We had been doing this since 1999. Before Jonathan lost his kidney function, we also tried Plasmapheresis, daily. Like Cheryl had said, aHUS does not only damage the kidney's (Jonathan has been on dialysis since 1996) but any other vital organ. I am under the impression that Jonathan WILL BE on Soliris forever. Why? Because he has a mutated gene, and although the Soliris helps stop the disease, it is not a cure.  I asked him how he felt  a couple of days after he received his first dose of Soliris, and he said that he did not realize how bad he felt before. He said he feels great and feels the healthiest he has EVER felt.

If you have any questions, please don't hesitate to ask. You are your child's MOST important advocate.

Take Care,

Donna

Comment by Cheryl Biermann on January 11, 2013 at 9:29am

Last one, I promise.  Her numbers have steadily risen, but what's her hematacrit and haptaglobin?  You do not wheen to see what happens with a HUS, we know what happens relapse, and with every relapse come damage. Not only the kidneys either.  There are a ton of scary things that happen during relapse and it is sensless to put her body through that.  Have you read the Boot Camp in full?  I sometimes need a refresher even after all those years.

Comment by Cheryl Biermann on January 11, 2013 at 9:07am

I'm wondering why the doctors are advising you that if they begin Soliris, they would take her off it at some point?  That has been done, in some cases, so far so good, in other cases, it was disasterous.  With health care questions being as they are today, getting reapproval after coming off seems like a night mare.  

I don't think what you express regarding her plasma infusions and time is quite the norm, but they do take a long time.  Nathan usually had his run over 4 hours, if she doesn't have a port and needs to be stuck that would add time also, and maybe your hospital needs a "home" for her, Nathan had only 2 to 3 nurses to run his infusion, so they learned his quirks.  At first we didn't have an infusion center either, so his "home" was the dialysis unit.

Comment by Cheryl Biermann on January 11, 2013 at 8:44am

I read a partial accounting, sorry, but I had to stop there because of the need to speak out being so great.  My son was on plasma infusions for years before Soliris, although he never really attained the period of calm your daughter has.  I disagree totally with wheening her down to nothing.   Here is why, new studies have led to many people in the research world believing this disease in never dormant, but happening on such a low level that current biomarkers are not sensitive enough to pick them up.  I wouldn't rely on on infusions either, they do not stop the compliment system, but  results are seen because the patients native blood is being diluted

with healthy blood.

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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 2 cases of aHUS in the U.S. per 1,000,000 of population, and about 60% of aHUS patients are diagnosed as children. The condition is potentially life threatening, and either can be chronic or can recur at intervals.
  
more factoids...

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