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Vanessa Fawson
- 33, Female
- Las Vegas, NV
- United States
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- Discussions (2)
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- Photos (1)
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Vanessa Fawson's Discussions
MTHFR Mutation
4 Replies
Has anyone ever heard of the MTHFR mutation? We finally got the genetic testing results for Blake back in May and were told that this is the mutations he has but I have not been able to find any…Continue
Started this discussion. Last reply by Vanessa Fawson Aug 11, 2011.
Vanessa Fawson's Page
Latest Activity
Vanessa Fawson posted a status"I can hardly believe it has been a year! Other then a few bouts with fever and vomitting and the weekly headaches Blake is doing great!"
Vanessa Fawson commented on Melissa Hearn's blog post Pictures of AHUS kiddos PLEASE"We'd be happy to. Send the email address and we will get them to you."
Vanessa Fawson replied to Vanessa Fawson's discussion MTHFR Mutation"Thank you all for the information. Sorry it has taken me so long to respond. We are in the processing of moving and won't be settled for another 2 weeks. As soon as we get our things and are settled I will add some more of the…"
Cheryl Biermann replied to Vanessa Fawson's discussion MTHFR Mutation"Thanks to Tara for providing the information on this question."
Tara Maga replied to Vanessa Fawson's discussion MTHFR Mutation"Hi Vanessa,
My name is Tara and I have been working to identify genetic causes that lead to aHUS for my PhD thesis for the past 5 years in Dr. Richard Smith's Lab. Linda Burke sent me a message about whether or not I know anything about…"
Vanessa Fawson posted a discussionMTHFR Mutation
Has anyone ever heard of the MTHFR mutation? We finally got the genetic testing results for Blake back in May and were told that this is the mutations he has but I have not been able to find any information on it at all. I would really like to learn more about it and what to expect. His Nephrologist told us that while he has this mutation there is one of his levels that should be off while he is sick but his levels (can't remeber the name) have been normal both times. She said they will do…See More
Linda Burke left a comment for Vanessa Fawson"Hi Vanessa,
I'm a Mom whose two little boys were both diagnosed with aHUS - my member page has a profile with those details. Skyler's aHUS flared in March 2009 and he was lucky enough to have the experience of Hunter's great…"
Vanessa Fawson left a comment for Linda Burke"Thank you Linda! I would live to hear more about your experience and any information you feel would be helpful. I don't even know where to start. "
Linda Burke left a comment for Vanessa Fawson"Hi Vanessa,
So sorry to hear that Blake is ill, it might be a good idea to start with the "aHUS Bootcamp" tab at the top of this page. I'd recommend reading the Soliris Forum, in case your doctor hasn't mentioned…"
Profile Information
- Birthday
- April 25
- 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 membership request involves business interests as I seek additional aHUS information for business applications.
- No
- My child ( or myself as a patient) is best described as:
- Tested but Awaiting Results, C3 (C3), Anti-FH-Ab (CFHR1/CFHR3)
Vanessa Fawson's Photos
Comment Wall (2 comments)
- At 1:13pm on April 2, 2011, Linda Burke said…
Hi Vanessa,
I'm a Mom whose two little boys were both diagnosed with aHUS - my member page has a profile with those details. Skyler's aHUS flared in March 2009 and he was lucky enough to have the experience of Hunter's great pedi nephrology team. He got a 'compassionate use waiver' to use Soliris for 14 months, which worked wonders. Skyler has no syptoms or meds and pretty much leads the life of any 1st grade boy.
- At 4:56pm on January 22, 2011, Linda Burke said…
Hi Vanessa,
So sorry to hear that Blake is ill, it might be a good idea to start with the "aHUS Bootcamp" tab at the top of this page. I'd recommend reading the Soliris Forum, in case your doctor hasn't mentioned this relatively new option. (There is a pediatric clinical trial currently underway for this drug, but several children whose Moms are on this website have already used Soliris since 2009.)
While I'm certainly no medical expert, I'd be happy to relate my own family's experience with aHUS to aid your understanding of this complex disease. Please ask questions, and we'll all try to help.
WELCOME - Friends, Family Members, Patients, and Researchers - JOIN US!
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...
• • • • • • • • • • • •
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...
Help us fight the battle
Your tax-deductible purchase of one or more bracelets will directly fund research to help end the tragedy and heartbreak 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 the Foundation for Children with atypical HUS atypicalHUS.50megs.com
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:
Atypical aHUS Foundation
19 Olde Colony Lane
Cape Elizabeth, ME 04107
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