Leber’s and Kjer’s Optical Neuropathy

It’s unclear if I have either Kjer’s or Leber’s (LHON).   I’m still undergoing tests and will know soon.  I wanted to post this since I have heard from others who have Kjer’s.  Thank you for your support.  I wish you all well with it.  It is my hope that someday soon there will be a treatment for it.

Leber’s optical neuropathy here is an informative article on it.

SAN JOSE, Calif. — Edison Pharmaceuticals has entered into collaboration with the Institute of Vision, Federal University of Sao Paulo, Brazil, to develop drugs targeting Leber’s hereditary optic neuropathy, the company announced.

Leber’s hereditary optic neuropathy (LHON) is caused by genetic defects in the mitochondria, according to a press release from Edison. Edison is teaming with the Institute of Vision and its LHON international consortium to aid in evaluating the company’s drugs that target inherited mitochondrial diseases.

“Given our access to an extensive pedigree of patients with LHON residing in Brazil, the Institute of Vision has served as a center for LHON investigations,” Dr. Rubens Belfort Jr., professor and president of the Institute of Vision, said in the press release. “Our goal is to expand our knowledge of LHON, thereby developing new diagnostic tests and drugs for LHON and related mitochondrial diseases of the eye.”

Guy Miller, chief executive officer of Edison, said in the press release, “Edison has been working with several members of the LHON international consortium for over a year and is extending its ophthalmologic program to the Institute of Vision in Brazil. As many mitochondrial diseases, including LHON, have significant visual disturbances associated with them, we see this effort has having broad therapeutic applications for drugs under development at Edison.”

NEUROSCIENCES

Posted on the OSN SuperSite July 27, 2009

Leber’s hereditary optic neuropathy can cause rapid deterioration of vision

Invest Ophthalmol Vis Sci. 2009;50(7):3112-3115.

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Leber’s hereditary optic neuropathy can cause significant vision loss, perhaps worse compared with other ophthalmic disorders, and may be typified by rapid onset of vision loss and a poor long-term prognosis.

According to a survey of patients with Leber’s congenital optic neuropathy, 74.5% of affected patients were men. Mean age at onset was 27.9 years, with an average disease duration of 15.5 years at the time of the survey.

The survey, which evaluated 196 affected individuals and 206 genetic carriers unaffected by the rare condition, found significantly lower scores on the VF-14, a visual function test that asks patients to self-report their ability to perform 14 vision-dependent activities in daily life. Subjects are graded from 0 (unable to do) to 4 (no difficulty).

Affected patients scored 25.1, which was significantly lower than the 97.3 reported by unaffected subjects. Patients with the m.14484T>C mutation had significantly higher scores on the VF-14 than patients with either subtype m.3460G>A or m.1178G>A.

However, according to the study, there was no correlation between disease duration and VF-14 score. In fact, visual impact was notable within 1 year of disease onset. Among 21 affected individuals with onset within the prior year, the mean VF-14 score was 23.4 compared with 25.3 among individuals with a duration longer than 1 year.

“Reading small print and reading a newspaper or book were the two activities of daily living that cause the greatest subjective difficulty,” according to the survey.

 

Travel is Officially Over

Yesterday,  we cleared out our storage bin and moved all of our belongings and furniture to the apartment.  We have no immediate plans for anymore world travel.  Now,  its full court press to get re-established but this weak economy isn’t helping matters.    Thank you  inept politicians.

Recent Observations:

Ryder truck rental is better than Budget at least in Roseville.  The truck from Rtder was better.  Maybe it is just a matter of Mitsubishi being better than International.  The ergonomics in the International truck are terrible especially when it comes to using the brake.  Also the lift gate on the International truck kicks down at an angle close to the ground so you have to make sure the load doesn’t fall off at that point.

The simple life isn’t so simple.  Moving all our stuff,  I realized just how much junk we have.  Travel teaches you that you need very little.  We just have too much.  We now want to streamline what we have and live simply.  Nature abhors a vacuum and we fill it up with stuff.  Stuff to fill a 2800 sq ft house in Hampton Falls, NH; stuff to fill up a 2500 sq ft house in Rocklin.   A lot of the stuff was inherited from family.  I wish we had kids so we could dump the crap off to them.

The New BLOG

This blog will no longer have to do with our journeys to South America except there might be one more South America trip planned for next spring to climb Chimborozo.

 

Enlightenment Quiz

ENLIGHTMENT QUIZ

The following is a test of your level of enlightenment.  Score one point for each correct answer, subtract one point for each wrong answer.  Add your total number of right answers to the total number of wrong answers, divide by the total number of questions on the test, then wonder why you’ve tried to follow it this far.

Select the answer which best completes the following statements:

1.   Yin and ………
A) Yout   B) Tonic   C) Yenta    D) Yang

2.   A Zen koan is ……..

A) Jewish Buddist  B) All of the above   C) None of the above
D) None of the above

3.   Just before total God-realization I would see…….
A) A blue pearl   B) Nothing   C) Everything   D) How would I know?

4)   Lao-Tsu is…….
A) Shrimp with fried rice          B) The Atman Brothers
C) A Japanese word for sneeze      D) One of the above

5)   Jivatman and Atman merge to become…….
A) Jivatmanatman                   B) The Atman Brithers
C) Jivatman & Atman Inc.           D) Mr & Mrs Atman

6)   The word or words which best describes the relationship of God, Guru
And Self is…….
A) Oneness                         B) Twoness
C) Penpalness                      D) Just good friends

7)   Which of the following is not a name of the Lord?
A) Jehova   B) Elohim   C) Yahweh   D) Charlton Heston

8)   If you swap a Swami with a Yogi you get…….
A) A Swogi    B) A Salami   C) Yogurt   D) Heartburn

9)   Carlos Castaneda is:
A) a flamenco dancer               B) A resort near San Juan
C) The 2nd baseman for             D) The gutarist for Santana
The LA Dodgers

10)  Om Mani Padme means:
A) O manny, pardon my home         B) Money talks, bullshit walks in
C) It u cn rd ths msg u cn            Sanskrit
Gt a gd jb                      D) Never having to say you’re
Sorry

11) The sound of one hand clapping is:
A) Very quiet            B) similar to smiling with one lip
C) A Zen record shop     D) Like the “p” in swimming

12) Linguine is to fettucine as kundalini is to :
A) Eenie meenie      B) Halloweenie    C) Harry Houdini
D) Pepto Bismol (this is a silly answer)

13) The Tao Te Ching is:
A) The new premier of China    B) A new record by Cheech and Chong
C) I Ching’s older brother     D) A massage parlor in Tokyo

14) You arrive at a party and your host says, “Far out, I want to take
the responsibility for creating space in your universe so you can
experience your experience.” He means:
A) “Have a good time”     B) “Don’t eat the Swedish meatballs”
C) “I just completed est training” D) Nothing anyone would understand

15) If three devotees can meditate for a total of nine hours, how many
devotes would it take to mow the lawn?

16) If three devotees can mow the lawn in one hour, how many stoned devo-
tees would it take to meditate until nobody cared?

17) If shakti was rising toward the fourth chakra at a rate of 3.5
pranayamas per second, and at the same time an energy force was
traveling in the opposite direction at a rate of 4.8 pranayams
per second, what time would it be in Chicago if we woke up in
Los Angeles?

True-False

_______Ramakrishna is a cereal made with rice and maple flavoring.

_______Satori is better than nirvana and samadhi except on weekends
and holidays.

_______Sufi dancing is like square dancing only rounder.

_______The Tibetan Book of the Dead is a novel by Harold Robbins.

Score

0-5 points:   You are hopelessly attached to the wheel of life and
death. Try again next incarnation!

6-10 points   You are largely unconscious and stuck in worldly pleasures

10-15 points  You are so-so on the enlightment scale. Keep reading the
New Sun.

15-20 points  You are a very conscious being; with a little good karma
you could go a long way.

20-25 points  You are very close to God-realization–early November at
the latest.

 

4:31 Boston Marathon

Things to do in life:

Run the Boston Marathon as an official entrant.

Done.  Complete.  Check that one off the list.

It was a difficult day.  My legs never felt good in the race and at mile 17 I started to cramp up right as the hills started.  I walked more than ran  until mile 23.  I tried to drink a lot of Gatorade to get the electrolytes back in balance.  I was able to run slowly with a small gate from mile 23 in.  My greatest fear was to be that runner with the rubber legs that collapses just before the finish line and has to crawl over it.  TV loves to capture the agony of the athlete and I didn’t want to be that athlete.   I made it over the finish line with no problem.

It was a good race, an interesting experience.   Here are some pictures.  Others can be found at this link.   Just wanted to let you know that I made it and am still in one piece.

Thanks to everyone for sponsoring me.  Thanks to friends and family for coming out to cheer me on.  Thanks to Joanne and Richard for housing us for the week. Thanks for Susan and my friend Chris for carrying me back to Joanne’s place after the race.  And thanks to everyone for caring.

 

Cause Celebre

Friday, I received a call from the PR department from Mass Eye and Ear.   They are interested in my story and will see if  newspaper, radio or television stations might be interested in a human interest story of why I am running the Boston Marathon.  They think Kjer’s,  degradation is sight, running with my doctor is an interesting story.  I’m not sure it is but if they are interested, then I will meet with them when I am back in Boston.  I think my teammate,  Will McNamara, has a much better story.

Here’s a great link to the Boston Marathon.   Check it out.

I’m getting nervous.  Less than 2 weeks to go.   I’ve watched too many video’s of people in pain in the medical tent after the race.  I hope that it doesn’t happen to me.   My goals are :

1. raise money for a good cause- almost made my goal of $5000
2. possible beat my time of 4:09 from 1984.  Not crucial but I needed motivation to train
3. finish the race no matter what time. Now, I’m hyper aware of pains and bruises fearing that they ill turn into an injury preventing me from running the race or finishing it.
4. try to enjoy the race as much as possible.  I don’t know if I will ever have this opportunity again.

Thank you all for contributing.  You can watch the race online at UnivesalSports.  Don’t expect to see me.  I start at 10:30 with the non-elite runners and expect to finish around 2:30 EST.  You can also follow me via the Boston Marathon web site.  My number is 25634. 

 

Breakthroughs and Updates

Just wanted to let you know what you are getting when you sponsor someone from Team Eye and Ear to run the Boston Marathon and to contribute to HONORs.

Breakthrough Procedure from Mass. Eye and Ear: Implantable Telescope in the Eye

Kathryn Colby, an eye surgeon at Mass. Eye and Ear helped develop the surgical procedure used to implant a miniature telescope (show left) into the eye that improves vision in people with macular degeneration. The four-millimeter-long implant contains two wide-angle glass lenses, which magnify images onto the retina.

Read the full story here: http://www.technologyreview.com/biomedicine/22378/

I also wanted to make you aware of some of my teammatesat Team Eye and Ear.  Will McNamara went mountain biking 3 years ago when he was 25 years old.  He had an accidient that broke his back. During surgery, Will had a stroke to the optic nerve in both eyes, leaving him legally blind and facing a new way of life.  “My family has been looking and we are all hoping for some kind of cure for my eyes.”  Will found Mass. Eye and Ear and Dr. Dean Cestari’s marathon team of nine members   who are raising funds for neuro-ophthalmology research and knew it was a perfect match.

I’m looking forward to meeting Will.  I’m glad he’s on Team Eye and Ear.   We’re all running for a good cause.  Please consider sponsoring me or any of my teammates.  All your tax deductible donations goes to research. You might be giving someone the gift of sight.   To all who have already contributed, a heart felt thank you.

 

Poll: Can Wayne run 4:06 at Boston?

 

My First Subpeona

Alcohol, drugs,sex and violence.  I listened to cases involving all of these in Auburn Court until my case, the case I was subpeonad for. came before the judge.  I was there as a victim of a violence case and was subpeonad to provide cost damages that I incurred.

Before we headed cross country last year, we lived in an apartment waiting for our beloved Bubby to pass away.  One morning, we were awoken by a neighbor informing us that tires were slashed and cars spray painted.  I was one of the lucky ones, only one tire was slashed.  Some people had all tires slashed.  I put the spare tire on and drove my car to the shop and bought a new tire.  Insurance didn’t cover it.  I paid out of pocket never thinking that the perpetrator would be caught.  There were 21 victims in total.

Right before we left on our cross country trip, we were notified that the perpetrators were caught.  It was an unlikely mother and daughter team.  The mom’s husband lived in Rocklin Manor Apartment complex and was getting divorced from him.  As a grudge action,  the mom decided to vandalize her husband’s car and 21 other vehicles to throw the police off so that it didn’t look victim specific.  The mother enlisted her daughter for help.  Anyways, someone saw them in their white corvette acting suspicious. The Police followed up and arrested both of them.

I don’t know how they vandalized so many vehicles without getting caught immediately.  To do this to so many vehicles, I thought it would take military precision, quite and fast.  So suspected young males.  These two are fat, dumpy and out of shape.  I don’t know how they managed to damage one vehicle without huffing and wheezing let alone 20 more. Oh, there’s nothing like committing a felony to get the adrenaline flowing.

Mother and daughter were convicted of 5 felonies and are spending some bonding time in jail.   Since they have a house, they have assets. The DA went after those assets and I should be getting re-imbursed soon. The moral of the story:  The family that slays (tires) together, stays together in county jail for 3 months at least.

 

Age Discrimination and Asphalt, It’s what’s for breakfast

Our days consist of me training for the Boston Marathon and both of us  searching for jobs.  Both are tiring.  I ran a 20 mile training run on Monday the 9th.  I came through it unscathed, no injuries but the expected blisters and chaffing.  I think I will recover from the effort.   The job market is tiring since it is so depressing.

6 more weeks to the marathon.  I’ll be glad when it is over.  It’s all for a good cause.  Thanks for sponsoring me.   Only one more long workout before the race.  This time a 24 to 26 mile run and then 3 weeks to taper and its off to the races.

Asphalt, it’s what for breakfast since I’m hitting the pavement 6 out of 7 days.

Age discrimination:  The qualifying time for the Boston Marathon for a man 70 over older is 4 hours.   Please!  I’m trying to run the race in 4 hours.  It’s not that easy.  I say if any 70 year old wants to run the marathon, then he or she is admitted without qualifying times.

Please sponsor me.  I need to reach my goal.   Thanks and a special thanks to all that have sponsored me.

 

Who Kjer’s?

This is what the back of a normal eye looks like.  Notice the pink color.   If you look at the back of my eye,  you will see a palor color.  The optic nerve is slowly dying due to Kjer’s Optical Neuropathy. AION or Anterior Ischemic Optic Neuropathy is how it is classified.  Learn more about it at North America Opthalmology Society website.

Kjer’s or Dominant optic atrophy is associated with mutation of the OPA1 gene found on chromosome 3, region q28-qter. Also, 5 other chromosomal genes are described causing optic atropy: OPA2 (x-linked), OPA3 (dominant), OPA4 (dominant), OPA5 (dominant) and OPA6 (recessive) (see OMIM 165500).

Over 60 different mutations of the OPA1 gene causing Kjer’s have been reported.  I was tested for these mutations last December.  I’ll know which mutation I have when I report back to Mass Eye and Ear in April.

More information can be found about Kjer’s in wikipedia

Here is a story about a 47 year old woman with the same condition.

So what does it all mean?  It means my vision will continue to degrade.  However, help is on the way.  I’m running the Boston Marathon to raise money for research.  All contributions go to research.  The goal is a human treatable method in 10 years.  Please consider sponsoring me. I’m close to reaching my goal.  Every dollar counts.  I know that times are tough with this economy but think of the good karma or grace you will gain by helping to fund a cure for a disease degrades eyesight and even causes blindness.