IS IT X-ALD OR AMN AND ARE THERE SIGNIFICANT DIFFERENCES IN QUALITY OF LIFE?

Hello to everyone!! I'm new in this company , my name is George Kottis - age 33 and i'm so happy found people with the same symptoms like mine , cause i had started to believe i'm the only person in earth have these problems :)) In 2003 i've diagnosed Addison's disease but doctors here in Greece told me i could be ok with the use of cortisone and i coulr run again and play soccer and live a normal life without any other problems...But i've continued to getting tired very easy , to have instability , weakness on my legs and many many other problems...So i've decided to send a sample of blood to Kennedy Krieger Institute to find finally what is the problem with me and performed test about "Full sequencing of the coding regions og the ABCD1 gene". I have the results but i don't know if u can understand with these medical expressions...

So the results are exactly:

Position Normal Patient

Nt1054 C A

and after that the interpretation:

Nt1054C-->A (A223D): Not a previously reported ABCD1 mutation or polymorphism. A223 is not completely conserved across species, but is conserved across higher species. The clinical significance of this sequence variation is not known. Genetic counseling is recommended. There was no evidence of a deletion of the coding region of ABCD1 in this patient,but Southern blot may detect deletion of the 5' or 3' regions or may detect a gene rearrangement. These molecular results should be evaluated in conjuction with test sensitivity and the patient's clinical presentation.

I had also sent sample of blood with my parents and my sister to count the C22:0,C24:0,C26:0 and the ratio's of them but i don't want to getting tired you with numbers, i have the results if these are necessary for you to help me...

I would like to read your opinions, i know you are not doctors, and i'm here to discuss your troubles cause i understand we have the same difficulties in this life...

Sincerely, your friend, George ;)

5 Replies

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  • George

    I think you have no choice but to get a neurologist to interpret this information for you.

    It sounds like The Kennedy Krieger results are inconclusive.

    So this means that it will depend on what physical symptoms you have at the moment.

    The best would be if you can find a doctor who has seen other ALD and AMN patients.

    Bernard

  • Hi George,

    I was diagnosed with Addison's in 2002 age 26, i lived a normal life until 2009 age 33, I had no idea of the connection with ALD/AMN, until my problems started with bladder frequency and in July 2009 I had urine retention and had to be catheterised, my symptoms progressed rapidly and by Nov I was using walking sticks!

    I think if your VLCFA's are elevated then that is diagnoses of AMN and ALD is diagnosed by MRI of the brain with white matter.

    The best advise I can give you in Greece is to get out in the sun and absorb the UVB rays! it works wonders for me when I go to Cyprus on holidays as in the UK the sun's angle is too far away.

    Best wishes

    Steve

  • George,

    I was diagnosed with Addison's disease at age 41, but was not diagnosed with AMN until age 57. I took part in an adult Lorenzo's Oil study at the Kennedy-Krieger Institute. I also had a genetic mutation analysis done, which confirmed that there was a mutation of the ABCD1 gene. Dr. Raymond at Kennedy Krieger explained to me that AMN is the adult manifestation of ALD and it is still unknown why some people with the same mutant gene develop symptoms during childhood(ALD) and others develop symptoms later in life (AMN).

  • Hello...I was diagnosed with Addison's Disease when I was 17 but not diagnosed with AMN until I was in my late 20's. I was told that the Addison's Disease was an underlying condition and the two were linked. Thank goodness I had my brother who understood all of this and could help me interpret it because later I was diagnosed with Celiac Disease as well. We discovered (which we weren't told) that all conditions noted above stem from the X-linked chromosome. I have made many significant changes over the last 6-7 years which have helped however I also have a great neurologist and endocrinologist who work together to help me. Medications are tricky and frustrating. I have found some all natural things that work and other meds that suffice serving dual purposes in the medical field with less side effects. I have done extensive research with this however you need to start with the right doctors and be willing to make some life changes that could definitely help. I am always happy to share some of what I have done - natural remedies as well as cooking alternatives that have helped. My docs have said they have seen amazing improvement (when I was first diagnosed it affected me so much I couldn't walk) and now I stay as mobile as I can - without the crutches. Let me know if I can help in anyway or share some more great info. Happy to help with cooking tips too! Best of luck!

  • Hi snowflake any cooking tips or tips at all for my brother who as amn i would be most gratefull for many thanks....best wishes carl

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