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SPR defective gene and DRD
Last Post 22 Mar 2014 07:05 PM by Retta Beery. 4 Replies.
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Mary BUser is Offline
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10 Jun 2013 09:23 PM
    Hello Retta

    I have only just discovered you over the last week...what a journey you have had!

    I was diagnosed with Lupus in 1996 and then DRD (miraculously) in 2000 at age 62. Many years of struggling to get the right answers! L-dopa has been a miracle drug for me as I can now walk, talk and perform functions that were such a struggle before. The very first tablet was a miracle for me. I do still however have some symptoms - severe headaches, gastrointestinal issues, joint problems etc - I then discovered your story and was amazed to read of both dopamine and serotonin deficiencies in your beautiful twins. I have always put my other symptoms down to Lupus but now wonder about the possibility of a defective SPR gene. Can I ask if Alexis had other symptoms after L-dopa, other than her breathing difficulties? I have made an appointment to visit my wonderful neurologist again in July and would like to go "armed" if there is a chance I also have low serotonin levels as well.

    I admire your strength and tenacity in your efforts to publicise this disorder in order to help others. You are a STAR!

    Warm Regards
    Mary
    Retta BeeryUser is Offline
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    11 Jun 2013 01:49 AM
    Hi Mary,

    I'm so happy to hear you found a neurologist who diagnosed you correctly. It's also wonderful to hear that you've responded to the L-Dopa and are walking!! I can't begin to imagine all the years you spent misdiagnosed.....

    Alexis did have some other symptoms that the 5HTP has helped, in addition to her breathing. I have also spoken with many other DRD patients who have had severe headaches like you are experiencing. Alexis struggled with panic attacks early on and we helped equip her with the "tools" or approaches to help her work her way through them. The 5 HTP helped with those as well.

    Where are you located? Have you had any targeted sequencing done? How were you diagnosed?

    Thank you for your posting, Mary.

    Retta
    Mary BUser is Offline
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    11 Jun 2013 04:22 AM
    Thank you for your reply Retta - small mistake in my previous post - I was 49 when diagnosed and I am now 62 A long difficult journey. Eventually, after years of tests and getting worse, I was referred to a movement clinic in Westmead, Sydney (I live in Sydney Australia).

    I was examined by a group of Neurologists who were a bit confused and thought I had some severe auto-immune disorder (such as Bechets or Lupus) that required some really aggressive chemotherapy treatment to dampen down the immune system - BUT there was just one doctor - a young doctor just beginning his Neurology career, who did not agree.

    He told the group he thought I had DRD, a disorder I had never heard of before. He told me afterwards that it was the fact I got worse during the day that made him think of it. I was hospitalised (again!) and had another spinal tap and a phenylalanine uptake test - bot,h though not diagnostic, were "suggestive" of DRD. I was prescribed Madopar. After just one tablet I could feel the change!!! I had a marked tremor in my left hand which I had for years - it just magically stopped. I could walk and talk again!! How miraculous! Every day now when I leave my house to catch the bus to work, I give thanks for my remarkable good fortune.

    But I do still have some symptoms which might very well be Lupus - but I am suspicious that it may be low Serotonin. I was interested to know that Alexis had panic attacks as so did I - very severe - almost paralysing - but after L-dopa I have not had one since. I am still anxious at times though. It is the daily headaches and gastro-intestinal problems that I now struggle with.

    I went back to see the Neorologist last Sept (first time since diagnosis in 2000) to ask about genetic testing - but he seemed to think it was not necessary- so I did not do it. But now, since reading about your twins, I want to see which gene is the cause of my DRD so that I can understand better whether there is also Serotonin involvement as was the case with Alexis.

    I know that if I take Imigran (Sumatriptan) for my headaches, they go away for a while - I believe that Imigran is a type of medicine called a serotonin (or 5HT) agonist. But I am not sure what that means...Is 5HT a prescribed drug? Imigran is a drug usually prescribed for migraine - however these headaches are not typically migraine. Is there a way of testing to see if you have low Serotonin?


    I am so pleased for you that your twins are now doing so well...

    Warm Regards
    Mary


    kiwigirlUser is Offline
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    21 Mar 2014 02:49 AM
    Interesting question is there a way of testing for low serotonin? Along with my segawas dystonia I have had gyne problems and other health complaints. When I saw a genetic specialist she informed me it was due to the gene mutation I have.
    Retta BeeryUser is Offline
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    22 Mar 2014 07:05 PM
    Dear Mary,
    For some reason I completely missed your post. I'm so happy that Sarah's post gave me the opportunity to see yours as well. Noah and Alexis take 5HTP, which they are currently having compounded at lower dosages, thus, need a prescription. However, you can get 5HTP in 100 mg capsules over the counter. By the time you do targeted sequencing for all the different mutations for DRD, you could pay for full exome sequencing to have those areas looked at as well as others. In Noah and Alexis's case, their mutation was found in the SPR gene (Sepiapterin reductase gene). This mutation ultimately causes low Serotonin and Dopamine levels.
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