It appears you have not yet Signed Up with our community. To Sign Up for free, please click here....



Autoimmune Disorders Message Board

  • Genetic Testing

  • Post New Thread   Reply Reply
    Thread Tools Search this Thread
    Old 11-06-2017, 02:04 PM   #1
    daniell77
    Member
    (female)
     
    Join Date: Jun 2016
    Posts: 59
    daniell77 HB User
    Genetic Testing

    Hi. It's been a while since I posted about my daughter regarding her autoimmune issues. Her Rheumatologist highly suggested Genetic Testing. From the testing, we have found that she has a NLRP3 gene mutation along with a PIK3CD gene mutation. When I look up the NLRP3 gene mutation, the only thing I continuously find is Muckle-Wells Syndrome. Does anyone know anything about the gene stuff and this syndrome? She is still on Plaquenil (right at a year now). We don't see her Rheumatologist for another 4 months which is when she will get blood work again. Please, any information would be greatly appreciated. Thanks!

     
    Reply With Quote
    Sponsors Lightbulb
       
    Old 11-06-2017, 05:49 PM   #2
    ladybud
    Senior Veteran
    (female)
     
    ladybud's Avatar
     
    Join Date: Jun 2012
    Location: Colorado
    Posts: 6,098
    ladybud HB Userladybud HB Userladybud HB Userladybud HB Userladybud HB Userladybud HB Userladybud HB Userladybud HB Userladybud HB Userladybud HB Userladybud HB User
    Re: Genetic Testing

    Quote:
    Originally Posted by daniell77 View Post
    Hi. It's been a while since I posted about my daughter regarding her autoimmune issues. Her Rheumatologist highly suggested Genetic Testing. From the testing, we have found that she has a NLRP3 gene mutation along with a PIK3CD gene mutation. When I look up the NLRP3 gene mutation, the only thing I continuously find is Muckle-Wells Syndrome. Does anyone know anything about the gene stuff and this syndrome? She is still on Plaquenil (right at a year now). We don't see her Rheumatologist for another 4 months which is when she will get blood work again. Please, any information would be greatly appreciated. Thanks!
    Hi Daniell, these are very rare genetic mutations that cause disease symptoms consistent with your daughters symptoms. The two mutations are very complex in their effect on the immune system. In the first mutation,
    the immune system is hyperactive and in the other, the immunnoglobulin A is deficient leading to respiratory infections. A rheumatology expert, perhaps thru a local university hospital clinic and an immunology specialist to deal with the immune deficiency should be able to work together, given this genetic information, to help your daughter. Aim for the top of the pile of specialists who have a special interest in rare disorders. It's highly unlikely the usual Dr pool will know anything about this. I would contact the national organization of rare disorders (NORD)to get physician referrals for her specific mutations. I am happy you are finally getting some direction with your daughter's heath problems and knowing what is wrong is at least half of figuring out how to treat it. You're making great progress, due to your persistence and sacrifice of time and energy!

    Last edited by ladybud; 11-06-2017 at 06:09 PM.

     
    Reply With Quote
    Old 11-07-2017, 05:25 AM   #3
    daniell77
    Member
    (female)
     
    Join Date: Jun 2016
    Posts: 59
    daniell77 HB User
    Re: Genetic Testing

    Thank you! I was more confused about the second mutation. I didn't understand really what I was reading. This makes a lot of sense due to the fact that we have had such a hard time getting rid of Strep. She even got PANDAS. We finally had her tonsils and adenoids removed and the tics from the PANDAS disappeared. She got Strep AGAIN just a couple months after her tonsils and adenoids were removed. Since then, she has been sick with bronchitis. She had to have an oral steroid, 2 rounds of antibiotics, breathing treatments twice a day and 2 inhalers. She uses one inhaler twice a day and the other when she is active in her sports because she has been having trouble breathing. When the nurse called yesterday, she said the genetic specialist needs time to research these two mutations but he wants us to meet with him in person in December to go over everything and discuss what this means for us. He is in the same Children's hospital as her Rheumatologist so I figure he will share with him the information. They did say that this could be the cause of her autoimmune issues AND her kidney problem that she had. I am very grateful for all the help I've received on here. It's been a long road and I don't think it'll be ending any time soon. Thank you!

     
    Reply With Quote
    Old 11-07-2017, 05:39 PM   #4
    ladybud
    Senior Veteran
    (female)
     
    ladybud's Avatar
     
    Join Date: Jun 2012
    Location: Colorado
    Posts: 6,098
    ladybud HB Userladybud HB Userladybud HB Userladybud HB Userladybud HB Userladybud HB Userladybud HB Userladybud HB Userladybud HB Userladybud HB Userladybud HB User
    Re: Genetic Testing

    Quote:
    Originally Posted by daniell77 View Post
    Thank you! I was more confused about the second mutation. I didn't understand really what I was reading. This makes a lot of sense due to the fact that we have had such a hard time getting rid of Strep. She even got PANDAS. We finally had her tonsils and adenoids removed and the tics from the PANDAS disappeared. She got Strep AGAIN just a couple months after her tonsils and adenoids were removed. Since then, she has been sick with bronchitis. She had to have an oral steroid, 2 rounds of antibiotics, breathing treatments twice a day and 2 inhalers. She uses one inhaler twice a day and the other when she is active in her sports because she has been having trouble breathing. When the nurse called yesterday, she said the genetic specialist needs time to research these two mutations but he wants us to meet with him in person in December to go over everything and discuss what this means for us. He is in the same Children's hospital as her Rheumatologist so I figure he will share with him the information. They did say that this could be the cause of her autoimmune issues AND her kidney problem that she had. I am very grateful for all the help I've received on here. It's been a long road and I don't think it'll be ending any time soon. Thank you!
    As for the second mutation, her immunoglobulin levels (all of them, IGG, IGM, IGA, IGE) should be measured in serum and if her IGA or others are low, she can be treated with immune globulins IV, which would help her ward off infections. iGA protects against mucous membrane infection, respiratory, GI, kidney, bladder, oral, pharyngeal, sinus, and vaginal. IVIG (IVImmunoglobulin treatment helps boost low levels. You will be well versed in immune disorders when this is all figured out, but I know what you want mostly in your little girl to be healthy.

     
    Reply With Quote
    Old 11-09-2017, 04:47 AM   #5
    daniell77
    Member
    (female)
     
    Join Date: Jun 2016
    Posts: 59
    daniell77 HB User
    Re: Genetic Testing

    As I research more and more, I found out that the NLRP3 gene mutation is an inflammasome/"autoinflammatory" disease which is not the same as an "autoimmune" disease. I didn't realize this. I also found that high ANA does not correlate with "autoinflammatory" diseases. So, my question is, why does my daughter have such a high ANA of 1:5120 Homogenous and 1:1280 Anti-centromere with "autoinflammatory" gene mutations? She has been on Plaquenil for a year and although her ANA is still positive, it is coming down while on the Plaquenil and was 1:640 last time it was checked. Her Rheumatologist's goal is to see if the Plaquenil will make the ANA go negative. She is also HLA-B27 positive. Can she have autoinflammatory and autoimmune at the same time? Please explain this. I'm so confused and her doctor is out of town so I can't get any answers until December. Thanks!

    Last edited by daniell77; 11-09-2017 at 05:24 AM.

     
    Reply With Quote
    Reply Reply




    Thread Tools Search this Thread
    Search this Thread:

    Advanced Search

    Posting Rules
    You may not post new threads
    You may not post replies
    You may not post attachments
    You may not edit your posts

    BB code is On
    Smilies are On
    [IMG] code is Off
    HTML code is Off
    Trackbacks are Off
    Pingbacks are Off
    Refbacks are Off




    Sign Up Today!

    Ask our community of thousands of members your health questions, and learn from others experiences. Join the conversation!

    I want my free account

    All times are GMT -7. The time now is 10:46 PM.





    © 2020 MH Sub I, LLC dba Internet Brands. All rights reserved.
    Do not copy or redistribute in any form!