Discussions By Condition: Rare Disases

GTP Cyclohrdrolase Deficiency - help

Posted In: Rare Disases 0 Replies
  • Posted By: Anonymous
  • August 23, 2014
  • 00:29 PM

I am a 19 year old Chinese boy that is currently diagnosed and suffering from GTP Cyclohrdrolase Deficiency.

Growing up I was a very active boy, participating in various competitions in school and never once suspected that I would have that wretched disease.

Symptoms first started when I was 14, I woke up in the morning discovering that my left palm area was completely numb and went to inform my parents. They brought me to the hospital and ran a few tests. The MRI report shows that I have an inflammation (transverse myelitis) in my cervical vertebrae (C2-C3 area) and I was diagnosed with Tourette Syndrome too. Doctors offered steroids to help with the myelitis but my father rejected it. Until now I wonder what would have changed if I had took the steroids.

From then on my condition was monitored throughout the years and occasional follow-ups, MRI and lumbar puncture were performed. But tests results show nothing abnormal.

The next symptom started during my first year of polytechnic in 2012 when I was 17. I was making my way down an overhead bridge and realized that my left feet was experiencing the same sensory alteration as my left palm, and was starting to get worried. I did not inform my parents as I was trying to monitor the condition for a few weeks.

Soon after, I fractured my left ring finger during my Capoeira training and things got really crazy after 2 weeks. My whole right arm was experiencing severe numbness and loss of coordination; it was also starting to lose its physical strength. I informed my parents and went to the hospital immediately. I went for tests again and the doctors diagnosed me with dystonia. They prescribe me with Levodopa to cope with my current condition and I was monitored accordingly.

Things got really out of hand when it started to spread throughout my whole body. First it spread towards my left arm, which then rendered my ability to write and it spread to the whole of my lower body, making me not able to run or jump anymore. I lost a lot of physical strength and coordination of my muscle movements, and also the ability to balance properly.

The condition hit rock bottom when I joined my school for a school overseas trip to Taiwan. After the first 3 days, I could not even lift my arms over my head, and I was constantly falling down due to the inability to balance and lack of physical strength. My control of bowel movement was also affected. I could not walk properly; I can't feel textures and my coordination of muscle movement worsened.

Upon returning back to Singapore, I was bedridden at home for about a week. After I gained the ability to walk a little I went back to hospital. After a series of tests again the doctors finally concluded that I have GTP Cyclohrdrolase Deficiency. They then suggested that I take this supplement: BH4 Kuvan (Tetrahydrobiopterin) which I agreed to.

I had to defer one of my school semester as I can't go to school. I stayed at home for 6 months. I tried to think of what I was able to do from then on which would secure me a future in the working industry but to much dismay, I could not find the answer. I was never able to do the things I loved anymore - Capoeira, football, drawing, sewing, Muay Thai and working out. I was devastated. Slowly all the negative thoughts started bottling up and I was diagnosed with depression. I was so ashamed of my condition that I did not tell any of my friends. But soon after they found out and visited me occasionally, which helped with the depression. I was happier, but not for long.

After the semester was over I returned to school, it was challenging to move about in my condition but fortunately I have friends that would help me. But sometimes I was alone and it gets really challenging. I fell everywhere in school - toilets, classroom, cafeterias and taxi stands. I once suffered a fall which sprained my ankle and broke my computer's LCD and my mom had to bring a wheelchair down to the school to send me to a hospital.

2 school semesters have passed since I returned to school, I still have issues transporting around and it is very challenging to cope with daily activities (with aid). I am still ashamed to go out because of the stares that I would receive from other people. Mind you that most of the people in Singapore are not as open minded and understanding as the rest of the world, therefore I feel like an outcast walking/being around these people. Until now I am still feeling very depressed.

I am sharing my story to raise awareness of this disease (1 in 2million approx.) and to also seek medical help if possible. Thank you for reading. Take care.

Regards,
Vincent

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