His Beautiful Smiles

Searching Cure for Progressive Degenerative Disease


2016年のまとめ (2016 Summary)

Edit Category 原因を求めて (Journey for Diagnosis)
A post for the first time in 1 and 1/2 years...

Although it's been a while, let me summarize how Leo's symptons are and the test results.


The muscle biopsy results reported, mild nemaline rods observed, and thus possible nemaline myopathy suspected..


However at the same time, it is also reported that the possibility of nemaline myopathy needs to be further investigated because nemaline rods can be seen as a secondary sympton in other diseases, and no mutations or variants were found in the whole exome sequencing results done several years ago,


8月上旬、Susanne Go先生と面会しアマンタディンをはじめる。一日35mgを2回(計70mg)。
We saw Dr. Susanne Go and started Amantadine early August. Since then he is taking 35mg twice a day (70 mg/day).

In a few days, we immediately noticed that Leo's core got noticably stronger, better muscle tone overall, more alert, better swallowing, speaks well (makes noise), and significantly less spasticity in his legs, especially the left leg, which was twisted inward and tip-toed. It may have come from the combination of the increased dose of L-dopa + the receptor side increased by amantadine.

In fact, Babinski reflex became normal (before abnormal as you know).

It has been a while since we saw this much improvement last time.
He stands more firmly (with our support of course) and good amount of weight is on both legs.

Leo did have a side effect in the first few weeks.
He was very emotionally unstable and easy to cry (we read the side effect before giving him amantadine, so it was in fact true).
But it went away after a few weeks and got back to the regular Leo with a big smile.

We saw Dr. Haas in mid August, 2 weeks after Leo started taking Amantadine.
His note should be describing the improvements as well.


1月に観察されたネマリンロッドの件で、数年前の全エクソム解析をしたBaylor College of Medicineにネマリンミオパチーの可能性を含めて結果を再調査してもらったが、その原因となる遺伝子に異常は見当たらず、可能性は低いとの回答を得る。

Given the observed nemaline rods found in Janurary, we requested Balor College of Medicine to re-examine the results of whole exome sequencing results done several years ago, but no mutations or variants were found in the genes that cause nemalize myopathy.

I participated in Rare Patient Advocacy Summit 2016 https://globalgenes.org/SUMMIT2016/ for 2 days and met many patients and their parents, doctors, researchers, NPO people, and learned a lot about the latest gene sequencing methods especially whole genome sequencing and the effort to collect more gene data to find the differences between rare disease patients and normal people. It was mind browing, but very useful since I found the research program called Undiagnosed Disease Network (UDN) by National Institute of Health (NIH) there.


Leo's blood draw done for the second whole exome sequence by GenDx. We were told that the results available early next year.


We went to UCLA to see Dr. Shieh, neuromuscular disease specialist. He saw Leo in the morning, reviewed all the medical records, and told us to stay in the afternoon to see Dr. Nelson, who is the director of Undiagnosed Disease Network program I got to know in September at Rare Patient Advocacy Summit 2016. He saw Leo and suggested us to start the application process for the program. We were so happy to see them at UCLA. We felt we might find something there.

Newer EntryGastrostomy Tube Surgery

Older EntryMuscle biopsy & lumbar puncture


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From San Diego, CA. Topics on my son with ataxic CP, US-Japan comparison on physically-challenged children, and just some tweets from life. Comments welcome.



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