Neurodegeneration with Brain Iron Accumulation (NBIA) Community

Meet, discuss & support other patients or families living with Neurodegeneration with Brain Iron Accumulation (NBIA). Contribute to topics, or just share what's on your mind.

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Late onset NBIA

Greetings everyone. Recently my initial diagnosis of NBIA made in August of this year was confirmed. There is a fantastic support system and a 'team' has been assembled to deal with symptoms as they present. This late onset, very late atypical onset NBIA. I would be most interested in trading experiences with anyone else with late onset NBIA.

Ook ik ben geïnteresseerd in ouderen met NBIA

neuroferritinopathy

Good day everyone.
I was diagnosed with neuroferritinopathy in jan/feb of 2016. I would like to know if there are any other members with this substrain of nbia.

Hello Thomas. I searched on the internet and came to this website for find out more about this condition. The doctors here don't seem to know much about this condition because they are not giving me answers to my questions. I would like to know from you more about this condition because you posted over a year ago and I was only diagnosed 2 weeks ago. I am in severe pain on my entire right hand side of my body. Is there any treatment that you are on. How long does it take for the condition to reach extremity. I am a working person and like to prepare myself for the worst. Kind Regards Nisha

Tihana
moderator

NBIA COMMUNITY MAP

Hello everyone!

Maybe you already know that in the Members section there is a new world map. It is a more visual and fast way to contact other community members.
https://www.rareconnect.org/en/community/n...

3 important things:

1) To appear on the map you only have to edit your profile and add the location. If you already have done it, you can also specify your city, even zip code.
https://www.rareconnect.org/en/profile/edit

2) Unless you have the profile marked as public, the information on the map is only visible for members that have registered to the community. This means that visitors may see the map but not the spots and the links.

3) If you wish, you can also make your spot in the map only visible for your friends within the community. This option can be changed always from your profile.

If you have any question, leave me a comment below!

Our journey to diagnosis: neuroferritinopathy

From wrong diagnosis to right diagnosis. It only took 7 years.

Hello everyone. In 2010 i started having restless legs while lying down for sleep. (Or so i thought at the time). This escalated to my arms and i was hospitalized. Doctors said my thyroid was causing problems and that i have hashimoto's thyroiditis. I was 34 years old at the time. Doctor put me on eltroxin, but over time the tiredness increased and so did my doses. Till i ended up in hospital again with tremors, writhing and shaking of arms and legs. Next i got wrongfully diagnosed with stress related conversion syndrome. This easy way out diagnosis clinged to me though i fought it and kept sticking to my guns and saying that there was something seriously wrong with me. It went well for a while. I has sporadic episodes and ended up in hospital again after i lost control trying to walk, lost my speech completely and blacked out. Doctor thought i had a stroke because of spots on my brain (which my current neurologist showed to cystic spots on my brain). In jan /feb of 2016 i started having episodes of photophobia. I went to a natural healer which after a physical told me to go to my current neurologist. She (my current neurologist) then told us that she wanted to admit me to hospital for diagnostic tests. One of the tests was a lumbar puncture which no one thought of doing in our 7 year ordeal. The results came back that my lumbar puncture was double what it normally should be. The doctor diagnosed me with NBIA. A month later doctor asked me to undergo a new set of testing including liver biopsy and eye tests to check for PKAN. I did not have PKAN so the only other diagnosis left was neuroferritinopathy because i am now 41 years old and all the other NBIA strains are exclusive to children.

MPAN

Hello,
My name is Alema. My daughter (20) has MPAN - Mitochondrial-membrane Protein-Associated Neurodegeneration and probably is the only one in our country.
First symptoms appeared when she was 11. Diagnosed at 16.
Gait problem is the biggest issue.
We have recommendation for feet operation and DBS so we are in the process of arranging it. Recently switched from Baclofen to Tizanidine.

Hi Alema,
You can contact me on the email:
Nbiasuisse@gmail.com
We are a patient association based in Switzerland and actually supporting the research on MPAN.

Tihana
moderator

For the recently diagnosed

If you could go back to the day you (or a loved one) got a diagnosis, what would you tell yourself?

sueinholland
moderator

Million Dollar Bike Ride for NBIA.

My name is Sue and I am one of the moderators for the Pitt Hopkins Syndrome community on RareConnect. For the last 2 years I have ridden in the MDBR to raise awareness and funds for research for PTHS with Judy and Liz. This year Judy, her family and I are riding for NBIA. We decided to do this as a little girl who was being tested for PTHS was discovered to have NBIA-BPAN.We wanted to pay it forward for all the help we have had from the Rare Disease Community and show the family our support. Every donation we get will be doubled by Penn University up to $50,000. There are only a few of us riding so all support will be very welcome.Please look at : https://goo.gl/eYSMxC#.Vwi37A3UrDQ for my page and https://socialfundraising.apps.upenn.edu/s... for Judy’s page. You can even start a fundraising page yourself, even if you cannot ride. All money raised to $50,000 will be doubled!