Ben has the Factor H gene mutation

[MARCIA AGUALLO BAKER]

I finally got to talk to my brother and he said Ben has the factor H gene mutation. He said the type of mutation that Ben has is a very mild form of AHUS. According to his facebook post, they are going to do plasma infusion once a week for a month. The other option that they have is Soliris. The doctors do not seem to think that any of the other children have this but if they do, they do not believe it will become active. He also said that if any of the children or my son gets AHUS, they would immediately be put on Soliris due to Ben's history. they are also going to get Soliris available just in case Ben ever needs to be put on it right away. They have been in discussion with the doctor in Canada and at the University of Iowa regarding the results. I feel a little bit better but still I think I will always worry about everybody. Ben is holding his own. They were able to get the AHUS back in remission pretty quickly. His heart is still a big problem but it has improved a tiny bit so we will take that. They are letting him be at home with an emergency number to the doctor with any questions. They are so in tune on every sign or symptom that they are able to adjust his medication from home. They came home with more supplies and machines. I will say Ben seems to be doing so much better at home and his blood pressure has actually gotten too low and they had to adjust his medication. I still plan on having my son Josh have some immune testing because he is sick all the time but will hold off on the AHUS testing for now.

[Colette Ann Frysz]

Marcia,
Just to let you know, my family and I are all Factor H deficient. Jessica has atypical HUS. However I also had a rare disease which after much prodding I found is also a factor H deficient disease. It is Guillam Barre syndrome. There are certain known triggers for this disease like a cold, flu, and mono. I had none so my trigger is unknown. The only way they could confirm the syndrome was through a spinal tap. I am the only member of my siblings that had such a thing but that doesn't mean they couldn't also have factor H. It just seems that they haven't the triggers whatever those are. Lupus is also a factor H disease.

[Jessica Olivia Frysz]

Marcia-

I'm glad to hear that you are getting answers. By the way, when they did the testing did they do the entire family? My parents, my sister and I all have the factor H mutation. Yes, when having the factor H mutation the aHUS is actually mild, it's what I call dormant, but it can arise when other situations happen, for example when a patient with aHUS is given Plavix, it can bring that on. But, I'm glad that Ben is getting better and my thoughts will be with you, since I too have the same mutation and Soliris has been discussed with me, but for transplant, because as of now, I don't need it, I don't have any kidneys.

[Cheryl Biermann]

I'm happy they are talking with the doctors in Iowa and Canda! I also, have never heard of being able to predict if the aHUS will be mild or not-obviously, his body took a tremendous hit last time. Maybe what they mean is they believe he will be very responsive to the traditional treatment of plasma and perhaps the cancer drug. Factor H is known to be responsive to plasma therapies, so that is probably what they meant to convey.

Most children get hit severely, like a ton of bricks coming at them, but there are instances where the damage occurs over time. There is a girl I know whose mother took her to several doctors because of swelling and trouble breathing and joint pains over the years. She was diagnosed with asthma and allegeries when in reality she was having episodes of kidney failure which caused the swelling ,(and probably the difficulty breathing was due to fluid in her lungs), due to mild aHUS occurances. It wasn't until she was in severe decline that a local hospital recognized it as kidney failure and sent her to a children's hospital who finally diagnosed the real issue. Her so called asthma and allergies are gone, now that she is on dialysis.

I HOPE it is not aHUS, so based on what you are planning to do with testing, I wanted to let you know it could appear very differently than what you've seen Ben deal with. Of course anyone dealing with this fear should read over the Parent's Perspective and just be aware. I know how diligent a parent you are, so I am sure should anything happen you will be on top of it quickly. It is wonderful to know they will start Soliris immediately if anyone in your family is symptomatic. What a relief!

[Amy Swarbrick]

Just wondering how they know that Ben has a mild from of AHUS? I have never heard that before. I have always been told there is no way to predict how an individual will do with AHUS. My son Brody has a Factor H mutation in SCR 10 (which is not one of the more common ones). We have also found out that Brody's dad has the same mutation but has not developed the disease. We have not yet tested Brody's four year old sister.
Glad to hear about the soliris being available to Ben if he ever needs it. Will keep Ben and your family in our prayers.

[Linda Burke]

Great news that Ben is at home....terrific !! Let's hope that Ben's health will improve as the love of his family and his familiar environment comforts and strenghtens him. Our best to you all !