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Discussion Starter · #1 ·
Since the age of seven my daughter's physical movement has deteriorated. She is now 11, and on a 'good' day can walk perhaps 0.5 - 1 km without serious trouble. On a (increasingly frequent) bad day, she has serious problems controlling her legs after a couple of steps, and they become weak. Even on a 'good' day, she soon loses control and strength in her legs. Her legs move and turn in an awkward direction. She needs to sit and rest often, and needs help to get from place to place (sometimes needing to be carried). She also has some curvature of the spine.

The paediactric orthopedic specialist we have seen here in Japan for the last 3 years (at the National Center for Child Health and Development in Yokohama), seems very complacent. He finally flagged up the possibility of spina bifida in Sept last year, but after an MRI showed no clear sign, he seems happy not to take any further action. He said a more detailed MRI could show a possible cause in the very top or bottom of the spine, but he didn't seem to think this was necessary(!). Meanwhile, our daughter becomes more and more disabled.

I am desperate to find another orthopedic paediactric specialist here in Yokohama or Tokyo (preferably supported by a team of other specialists) who can provide another opinion, and show some real effort to help my daughter. I went to another GP here, hoping to get a referral, but he said he would refer us to the same specialist/hospital we have been attending.

If anyone can make any suggestions, or recommendations, about how I can pursue some effective treatment for my daughter, I would be so grateful. Even getting a clear diagnosis of her condition (whether spina bifida or something else) would be a very positive step.

(Over the last 3 years she has also seen a podiatrist in the UK, and a paediactric physiotherapist in HK, both of whom were a little help, but neither could tell us what was wrong or provide any real solution to her worsening problems).

Thank you.
 

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Sorry to hear about your daughter's problem. I hope someone on the forum can suggest more concrete steps but, for now, here are some possibilities.

First, there is a Spina Bifida Association in Japan. You can look up the English web page on Google but it doesn't say much -- just a link to a more detailed page in Japanese. Here's their contact page in case it helps: (japanese moji-bake deleted). Obviously, if the cause is something else they won't be of much help but you may be able to get a decent referal from them.

If you don't get any more concrete suggestions, you might try a good teaching hospital in Tokyo. I've had a good experience at Saint Luke's and a friend of mine spoke highly of Juntnedo in the past. Neither specializes in pediatrics or orthopedics but they're both very large hospitals associated with medical universities so they might be in a better position to make a competent referral than a GP.

Is there any chance the specialists she saw in the UK or in HK might be able to refer someone in Japan? Or could you ask the center in Yokohama if you could talk to another doctor for a second opinion? Or perhaps call the

Sorry I don't have much more than that to share. I certainly hope someone has more useful suggestions. I poked around on the web and didn't find much in the way of information. The US Embassy publishes a list of medical resources but the entries in both pediatrics and orthopedics all look like clinics. I'd avoid the clinics and stick with larger hospitals since this is obviously not something a clinician is going to see very often.
 

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Discussion Starter · #3 ·
Thank you - we solved the mystery

Thank you for the advice, and apologies for taking so long to respond.

UPDATE: Solution found!

In March last year (2016), the orthopaedic paediatrician we were seeing at the National Centre for Child Health and Development (NCCHD) in Tokyo finally referred us to the neurologist across the hall.

The neurologist diagnosed an extremely rare condition called Segawa Syndrome (also; Dopamine Responsive Dystonia, or DRD), which only around 1 in 2million people suffer from.
Essentially, her body is not producing enough dopamine (a neurotransmitter), affecting control of her limbs. The condition is progressive, and without medication would worsen until most control of the arms and legs was lost by the age of 30-something. (The condition commonly becomes apparent from around 5-8 years of age, but can be earlier).

Blood tests, and tests on spinal fluid confirmed the diagnosis. My daughter then began taking medication which boosts her dopamine levels. Almost instantly, she regained full control of her legs, and could stay on her feet all day with no problem.

Over the past year she has been able to start running again, has started doing Brazilian Jiu Jitsu, and can swim and ride her bike with no problem (previously these things were not possible), so we are very happy indeed.

We were very lucky that the neurologist had heard of the condition; even then it was the first time he had encountered an actual case.

I wanted to share our experience in case any other parents are mystified by similar worrying symptoms in their child.


Medication information

The medication my daughter is taking is something called Mucuna Pruriens (also known as velvet bean), in powdered form, under the supervision of the neurologist. The bean contains a high level of L-dopa (the active ingredient in Levodopa) alongside other naturally occurring ingredients which help the body to absorb the L-dopa.

The alternative would be for her to take Levodopa pills (also often prescribed for Parkinson's patients, and the same medicine used by Oliver Sachs on 'locked-in' elderly patients, as seen in the movie of the story - 'Awakenings'). She would also then need to take at least one other drug - Cardopa/Carbidopa - to help absorption. This is not necessary with the Mucuna powder, as a similar ingredient is naturally present.

Disadvantages of taking the powdered Mucuna instead of the pharmaceutically produced Levodopa pills are:

- dosage of active ingredient may vary due to use of natural, 'raw' substance (though based on figures from the company supplying the powder, the concentration doesn't vary widely)

- a fairly large quantity of powder is necessary, to achieve the required amount of active ingredient (my daughter takes 7g of powder after each meal), this doesn't cause any real problems however

- the powder needs to be measured out and prepared

Advantages of the mucuna powder are that is a natural organic compound, already containing substances which help the L-dopa be absorbed, and so not requiring the consumption of a range of pills and medicines.

In addition, Levodopa has been associated with some unpleasant side effects in Parkinsons patients (to whom the vast amount of data relates). However, this may be due to the comparatively very high doses they need to take (sufferers of DRD would typically need a lower dose).
There is some evidence that the use of Mucuna avoids these side effects, and we have certainly found no side effects with our daughter, for whom the Mucuna is very effective indeed.

However, there is a lack of studies into the use of Mucuna, and clinical comparisons of Mucuna with Levodopa, perhaps due to a lack of commercial interest from pharmaceutical companies.

I hope this information may be of help to any parents/children in a similar situation.
 
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