Progressing to Plan B

You may be wondering about my newfound obsession with posting research abstracts. Well, I already articulated part of my Plan B, so I will go ahead and share the rest as well as my rationale.

If you are remotely of the school of “one variable at a time” kind of thinking, I recommend you stop reading now because you will want to poke your own eyes out by the end of this post. :)

I am in complete agreement with Dr. Sapse’s theory of the RP disease process as it relates to the type of RP I have. Remember, I believe RP is actually different diseases that appear the same. However, I am not sure about his opinion that GH3 will control the immune response in my case. He abhors steroids.

So, what I am doing now is by no means a reflection of him, Dr. Gonzalez or their advice. Speaking of them, if you are focused on FDA issues, you most likely have some knowledge of research. While I am not going to play the part of pro bono attorney, I welcome any input you have regarding major flaws in studies I link to, issues with certain drugs, etc. Also, any information on stem cell research which is currently recruiting would be helpful to readers, I think.

After experiencing visual improvements after the implant, I want to get them back, obviously. This time I want them to last longer. To that goal, the following plan has taken shape.


This plan includes staving off the immune response, controlling the apoptosis of the existing cells, introduction of stem cells, increasing oxygen to the back of the eye and encouraging ATP production and general nutrition Most of the parts of this are extrapolated from rats, but that is all the information I have at this point

Staving off the Immune Response

I have articulated my belief that my RP is related to an immune response. Smart people have said this long before I was alive. So, it is not really news but is not accepted either.

I feel trying to control the antiretinal antibodies prior to undergoing the next implant may result in improvements lasting longer. I prayed about this and three people in one evening advised me to research anti-rejection drugs. I am considering Delfacort after reading a very small study out of Italy in which people with RP and CME, like me, had some visual benefit after a year on the drug.

The bad news is steroids are highly toxic. Their side effects are nasty and you cannot just decide to get off them abruptly. They suppress the activity of your adrenals. In short, they are powerful drugs.

Steroids can not only make you most unpleasant to be around, but bloated and hairy. Since I am Mediterranean, I have already put my waxer’s children through college with my current salon bill. Hairier is certainly not an attribute I am going for…..Oh yeah, there is also the possibility of osteoporosis. Crunching bones is always fun. Throw in some major weight gain, lots of infections, acne and irritability and you have yourself a good time.

Why would I do this to myself? Well, I have a theory.

I am hoping to suppress the antiretinal antibodies long enough to give the new cells a fighting chance to survive for a longer amount of time. If I can hold off the immune response long enough to give the stem cells the opportunity to do regenerative work, then it will be worth it.

Six months is the goal. Unless my head turns in to a pumpkin and I have a full beard, in which case I will probably not be able to stand it. But, dosing and duration remains to be determined.


Slowing Apoptosis in Existing Cells

Calcium channel blocking drugs have been around for decades. They are used to treat hypertension and cardiac issues as well as a handful of other maladies. They have been studied in Japan for the treatment of eye disease. Once again, they are still studying animals. But, the results are somewhat encouraging.

I was hoping to give calcium channel blockers a try. Unfortunately, the one I have access to was shown to be ineffective in this particular study. I am going to see if I can find more research on these drugs and RP. The nice thing about Navadilpine, one of the calcium channel blocking drugs, is that, according to the information I have found, it does not seem to have the systemic side effects some of the other calcium channel blockers do. It also is being tested all over the world for use in different cognitive disorders because it increases blood flow to the brain.

According to the study from the University of Hirosaki, Nivadilpine was the most effective followed by Nicardipine. The problem with Nicardipine, or Cardene, is it lowers blood pressure and is not as effective as the Nivadilpine. Cardene is another one that is difficult to find, as Dilitiazem, Cardizem, seems to be the widely prescribed one. In the Japanese study it was shown to have no real effect on retinal preservation.

Since I have kept running in to obstacles on this end of the plan, I figured I would put this component on hold and try a naturopathic approach. I am going to continue to look for research on these drugs and retinal disease.

Introduction of Stem Cells

As for introduction of stem cells, that will, hopefully, be via another placental stem cell implant.

Increasing Oxygen to the Back of the Eye

I plan on increasing oxygen to the back of the eye by saturating my blood via hyperbarics (HBOT) for one month post implant. I plan on going three times a week for a total of twelve sessions

Increasing ATP Production

With regards to increasing cellular metabolism and ATP production, I will use my Microstim unit. I have used it off and on with little result. However, there is a lot of encouraging data out there for folks with Macular Degeneration. I think I started using it too late in my disease process, but that is just my opinion. Anyway, different frequencies are known to promote tissue healing in various parts of the body, so why not? I will use the MS unit every day after my implant.

General Nutrition

I will focus on general nutrition and wellness, continue to take highly bioavailable supplements, eat only organic foods, a diet rich in vegetables, specifically greens, continue to eliminate gluten, dairy and minimize sugar. This is not a huge change from what I adhere to currently, but I do need to clean things up some. So, in short, I am going to treat this like training for a marathon and try to get my body in the best shape possible, aside from the pharmaceuticals.

Deflazacort, RP and CME

If you are like me and have CME (Cystoid Macular Edema) along with RP, you may want to discuss the pros and cons of steroid therapy with your ophthalmologist. My CME does not respond to local treatment. I find the loss of central vision very annoying because it impacts my ability to read easily. As an aside, Deflazacort is also prescribed as an anti-rejection drug.

Enter "Deflazacort and Retinitis Pigmentosa" in the search term box.

http://www.ncbi.nlm.nih.gov/sites/entrez

My Disease Process Theory

I have a theory of my RP disease process. Notice I say “my” because that is where my theory stops. I think the many types of RP probably have distinct disease processes. They get put in the same category because they present clinically in similar ways. Unless there is a very obvious difference, such as degenerative hearing loss, they are placed in the same category.

I believe one of the types of RP has a systemic autoimmune component. Its differences are more nuanced and the associated conditions have not been linked together as being part of the RP picture. I am by no means an expert. I am just some lady blogging on the internet, that is it. Of course, when the experts can offer you the technological equivalents of the wheel and fire, in the form of a cane or a dog, you learn to fend for yourself relatively quickly.

In my case, I believe there is an RP gene(s) that was triggered. My mom most likely has the same gene, but did not experience a trigger which explains why she only has night blindness and no substantial vision loss. So, this trigger could have been a virus, who knows? At this point, it does not matter. Then, the cells in my retina began the process of apoptosis, a type of cell death. This was followed by my immune system perceiving the clumping cells as a foreign invader. My immune system then started to produce antiretinal antibodies. This started the process of my retina being attacked by my immune system as well as the cell death which was the result of the genetic expression.

Dr. Sapse and Johns Hopkins have both published work on antiretinal antibodies. The hard core scientist will tell you there is no evidence of the antiretinal antibodies causing a problem. Well, I am a betting woman and, at this point, the odds are looking pretty good that these antibodies are not just some harmless byproduct of the disease process. Why not assume they are causing some of the issues? It is possible to manipulate them and see what happens. For me, personally, blindness is a pretty big floor effect. Why not take some risks if an adult is open to them?

When I received the stem cell implant, I believe the cells homed to the damaged subretinal space. I believe they started to do some repair work. Then, the underlying cocktail of apoptosis and autoimmune function kicked in on the new cells and they went the way of the old ones.

So, it will be interesting to see if the navaldipine, which supposedly controls the apoptosis to a degree, will result in a correlating decrease in antiretinal antibodies. If so, I believe the stem cells have a chance of not only warding off degeneration but doing some regenerative work. It is a matter of creating a safe environment.

The next phase may present the need to not only control the apoptosis but the immune system. Maybe once the apoptosis slows, the number of antibodies will decrease. Who knows? It will be interesting to see, nonetheless.

More on Stem Cells and RP

Interesting research on subretinal injection of different types of stem cells and their result on retinal function:

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=17053209&ordinalpos=5&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

Rescue of Photoreceptors by Injection of Adult Stem Cells

I thought this might give my scientifically- minded friends something to check out with their morning Mochas. Give it a couple of seconds and it will download.

http://www.jci.org/cgi/reprint/114/6/765?ck=nck

Putting It Together

I honestly thought I was through with this for awhile. I was going to work on other projects. But, then again, what do I know?

I am still waiting on the yo yo. I am not very patient, obviously. So, in the case that I do not experience the upswing of the yo yo, I have a multi-pronged Plan B.

1) Calcium Channel Blocking Drugs- If I can get the appropriate dosage to a therapeutic level prior to my next implant, maybe the effects from the stem cells will last.

2) Following the next implant with a month long round of hyperbarics.

I am also going to continue to get labs done and monitor my liver and kidney function. If introducing these two factors does not have the desired effect, I will then move on to addressing the autoimmune components more aggressively. This always seems to be slippery as the drugs can be toxic.

Immune Issues in RP patients

This article could shed some light on my experience while on Prednisone. It opens the door to understanding the RP disease process as it relates to the immune system.

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=3263903&ordinalpos=17&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

Hyberbarics and RP

Below are some links to case studies on the use of hyperbarics and RP. I would be very interested to know if the results achieved were maintained with less or no hyperbaric treatment.

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=7940448&ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=10710240&ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

Calcium Channel Blockers

I have been thinking and praying on the cellular death aspect, apoptosis, of RP. I know something positive happened with regards to my vision after the implant. The missing key, in my opinion, is how to stop my body from pummeling the new cells in the same manner it does my own photoreceptors.

Then, I remembered reading years ago about a study using calcium channel blockers in France. I believe the drug they tested was dilitiazem, which, if I remember correctly, has shown to be ineffective for RP. But, according to the article below, they were on the right track.

Also, anecdotally, I had a dear elderly friend who had lost his driver's license due to Macular Degeneration. Later, he was put on calcium channel blockers for a heart condition. His vision "spontaneously" improved and he earned his way back up the eye chart and in to the driver's seat.

Then I was talking to a friend who brought up calcium channel blockers. I figured it was worth perusing again. I found the articles below:

This article is not a peer-reviewed scientific one. It discusses the superiority of navaldipine in treating ocular issues over the other calcium channel blockers:

http://www.pslgroup.com/dg/25411e.htm


This article explains part of the mechanism of cell death in retinal degeneration:

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=17088543&ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

The article below discusses the results of different calcium channel blocking drugs as tested in mice:

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=14706644&ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

Shalom, Peace, Namaste

This will be my last post for awhile. I think giving a visual status on a regular basis would be the blogging equivalent of watching paint dry. I have no reason to think Dr. Sapse does not truly believe I will receive results without further treatment. There would be a clear financial incentive for him to tell me otherwise. For now I have decided to “wait and see”, no horrid pun intended.

However, this could very well be an extremely long term process. And, with something so experimental, how do we measure success? Even if I maintain my vision for years, who’s to say my disease process is not at a point where that would have happened on its own? Short of a dramatic, measurable, sustained improvement in a relatively tight time frame, it is going to be impossible to come to any clear conclusions on the treatment’s efficacy. It is difficult to do that based on one person’s experience anyway.

So, dearest RPers, there are many things to consider when embarking on such a journey. Cost is a big one. Many of us are living on fixed incomes or are underemployed. With regards to this particular protocol, there are inconsistencies. On Dr. Gonzalez’s website it states: "The time for the next implant is determined by the condition of the patient, it is normally between six months to a year." Yet, Dr.Sapse has told me I do not need to return.

Using this protocol for RP is in the earliest stages of its infancy. In short, when you are a pioneer (or you can substitute “crazy person” depending on your perspective) there are no set paths. It is up to you to use the intellect God gave you to come to your own conclusions.

Another consideration is your emotional well being. If you are fragile, have not worked through your RP issues and are expecting a miracle cure, then I recommend staying home. Dr. Gonzalez puts it this way,”This clinic is not responsible for unfounded or unrealistic expectations or claims created by anyone else.”

This is totally unregulated territory. You are putting an enormous amount of trust in people who have virtually no oversight. Be an adult and realize what that entails. Most importantly, get on your knees and pray to God for guidance.

I felt led to go down this path. There is no point to guessing at God’s will. My brain is the size of a pea relative to the galaxies that represent His omniscience. I am very flawed. I always want my interpretation of His will to have a certain end. I have no idea where this will end. I can only hope someone, somewhere, has gleaned something from this experience. I know I have gained so much from sharing it with you.

I personally believe true empathy is the result of adversity. The Bible states:

2 Corinthians 12:9-My grace is sufficient for you, for my power is made perfect in weakness. Therefore I will boast all the more gladly about my weaknesses. (NIV)

It is only through feeling vulnerable that we can identify with those who are “weaker” than us. So, while this disease has been the bane of my existence in many ways, it has also been the best teacher I have ever had.

It is like the teacher in high school whom you perceived as a wicked taskmaster then, years later, you realize this seemingly unreasonable and demanding teacher was the person from whom you learned the most.

Don’t get me wrong, I hate this disease. I hate what it steals from people. I hate what it has taken from me. I hate that people who can do something have not made it more of a priority. Then, I realize the reason I even care about the rest of you is because of it.

I have the email addresses of people who have written me. I will contact you if I have documentation of anything Earth shattering. I have decided I will only blog improvements I can document. I will include my functional improvements and perceptions only when paired with exam data. I will also notify you and publish any abnormal lab tests.

The only thing that would prevent me from contacting you would be computer issues. So, I will commit to updating this blog with objective data regardless of if it is good, bad or indifferent. If you are interested, check back periodically in case I have lost your address.

In the meantime, thank you for sharing in this experience with me. As Dale Carnegie said, “Most of the important things in the world have been accomplished by people who have kept on trying when there seemed to be no hope at all." We may not be in a position to “keep trying” but we can always choose to keep hoping.

Peace, Shalom and Namaste

Night Vision Gains Gone

The night vision I gained is now gone. It was fun while it lasted, I guess.

Lucy

A dear friend of mine also has RP. We have known each other for years and met at a different foreign RP clinic. She lives in another state and we talk regularly on the phone. For purposes of this post we will call her “Lucy”.

Lucy had the implant a month after I did. She has had a two line improvement on the Snellen too. Her color vision has improved. She has noticed no difference in her fields or night vision. She is anticipating the “yo yo” and says if she did not test her own vision she may have missed the upturn.

She has not been to the ophthalmologist. Lucy has a Snellen chart at home as well. Like me, she has traveled and tried most modalities, except the Cuban surgery, out there. Our vision loss is also strikingly similar. Our friendship has spared my husband many a countless hour of having to hear about this stuff.

Lucy says she will talk publicly about this experience if she has documented, undeniable results that are stable. Meanwhile we are working on getting her to the ophthalmologist.

If you do not have RP, it can be hard to understand the dread of going to the ophthalmologlst. It just brings back bad memories, is painful, always unpleasant news….plus they never give you a lollipop at our age.

Helen Harris, founder of RP International

I spoke with Helen Harris yesterday. She is the founder of RP International. Helen is also blind due to RP. She has been working on this longer than I have been alive. I feel very privileged to have talked to her personally. She seems to have a genuine heart for people with this disease that translates in to a passion for fighting it.

I asked her about the information I found. She said there was a procedure done, in 1984 at Louisiana State University, that partially restored an RP patient’s vision. This woman is still alive and has retained her gains.

The RP patient who regained vision is not the same person who had the stem cell transplant and was at the Vision Awards. He received stem cells for a different disease.

Since Helen is a blind woman who has devoted decades of her life to fighting this disease, I have no reason to believe she is not telling me the truth. The possible implications of this are huge. This means the technology is already here. This is both encouraging and infuriating. Because I do not have enough time in my day to lift the amount of weights it would take to work through the anger, I am going to focus on the encouraging aspect of this.

According to Ms. Harris, this work at Louisiana State University was halted. The patient who regained vision was harassed and does not want to talk about it. Her family denies any access to her. Helen was very respectful of her privacy as well as the personal information of the doctors involved. Smart woman.

So, I have no details on the technique or tissue/ cells used. These are interesting times....

RP operation at LSU in 1984

I found the post below in the blogosphere. I have put a call in to RP International to verify this. I did find a press release regarding the Vision awards. In it, it does discuss the adult stem cell procedure that restored vision. This makes sense in light of the article about the procedure done with a patient's own cells at Moorfields. I will post any new information I receive.

I refuse to believe Americans are so ignorant they cannot discern the ethical difference between using adult stem cells and embryos. Or, maybe it is the result of an orchestrated attempt to polarize people and keep them misinformed. The advantages of living in a global community in the information age are becoming increasingly apparent. I definitely need to pray on this one.

Tuesday, November 07, 2006

Stem Cell Debate Cuts Off Cures For The Blind
Proven cures for blindness using adult stem cells are already available, says an advocate for the blind. But these cures are being held back by politics and the use of stem cells as a wedge issue in election campaigns, she says.Helen Harris, founder and president of RP International in Los Angeles, says that even though the main controversy revolves around ethical use of embryonic stem cells, politics has infected the entire scientific field and has had a chilling effect on adult stem cell applications as well.Acrimonious political campaigns have spread misunderstanding and discouraged funding of all stem cell research in the United States, says Harris. For example, she points to an adult stem cell transplant program at a Louisiana State University hospital that was quietly discontinued in the midst of public political rancor, even though it did not involve embryonic cells and had already led to a successful degenerative blindness cure back in 1984, according to Harris, who had been personally involved with the project.Harris is herself blind, along with two of her sons, from retinitis pigmentosa. She started RP International more than 20 years ago and has raised million of dollars for blindness research, especially involving the Hollywood entertainment industry. Her organization's annual Vision Awards honor celebrities, scientists and other notables for outstanding creativity. The 2006 Vision Awards in Beverly Hills took special note ofadult stem cell research by honoring a patient who was able to regain sight thanks to the LSU technique after more than 20 years of blindness.Harris announced today that her organization will establish a new fund-raising campaign to aid development of adult stem cell treatments for blindness and other disorders."I'd love to discuss with Michael J. Fox and others on all sides of this issue to find common ground and make sure programs like that at LSU get a chance to help millions afflicted by degenerative blindness along with other major disorders," says Harris.
posted by Scott Nance at 11/07/2006 03:40:00 PM

Link to the press release on the Vision Awards:

http://www.visionawards.com/pressrelease.cfm?newspressid=22

If this is true, I am going to have to start exercising to "old school" Metallica again. You know, their albums before James Hetfield cut his hair and went to therapy....prior to Lars selling out? I thought I was past that seething anger phase. I suppose God can co-opt most anything for catharsis, even old school Metallica....

Ninja Fighting Star

I was ranting to my husband about research issues. I had just picked up a copy of the FFB’s latest newsletter. On the front page was an article about some scientists creating photoreceptor cells.

The gist of my rant was I was hoping, a la Occam's razor, these scientists had already tried systemically delivering cells to see if they home and differentiate on their own. For more information on this concept, check out the abstract on the post from May 29th. I expressed to him that I hope they did not just start doing this under the assumption of the impenetrable blood/ brain barrier.

Now, I am very in love with my husband. He is not only funny, bright and kind, he is a fabulous dad. He is the man other women look at wistfully as he plays with our kids in the park. Because I love him, he can also infuriate me like no one else on the planet.

Since he used to run a research lab, he feels the need to defend his ilk from time to time.

This particular evening, as I ranted, I was organizing my very neglected high heel collection. Due to the current state of my vision, I rarely wear them anymore. Due to my height, I look like a crossdresser in them anyway. No insult to crossdressers intended.

He peered over his book and said, “Nat, sometimes you try things in research just to see if they are possible. Not necessarily because you think it is going to produce some end product.”

Dear God, grant me patience, I prayed. At this point I also had my hand on a metallic Jimmy Choo knock- off. My prayer for patience was sidelined by a fantasy in which I was using the stiletto like a Ninja fighting star. In my mind, I was hurling it through the air, after doing multiple revolutions it pegs my beautiful husband squarely between his doe brown eyes.

He read my expression and said, “Well, I am just trying to help you understand where they might be coming from.”

Do I look like the Dalai Lama?

Stable Improvement in Night Vision

The one aspect of my vision that does not seem to be experiencing the downturn of the "yo yo" to the same degree is my night vision.

It is not the same as it was the night I could see our faces in the picture on the wall. It is better than it was pre-implant.

Mating, Motherhood, Doctors and Research

I have been really humbled by communicating with people with RP. I feel, at the risk of sounding hokey, honored people have felt safe enough to open up to me about their experiences wtih this disease. For many, it is a lonely path. The relative anonymity of the internet seems to bring out the honesty in us.

There are a number of issues that seem to be a common thread: marriage and mating for men, motherhood for women, the pace of research and the way in which retinal specialists treat RPers.

Men have told me they feel like they will be a "burden" and a source of pity for a woman, so they choose not to date. Firstly, if you truly believe this, you will create this situation. For example, if you think she is just going to feel sorry for you, you will look for examples of that. She may just be nice but you interpret her consideration as belittllng. You blow up and all of a sudden your RP is the issue. She will take your lead. If you make it a huge deal, it will manifest that way. Coming from someone who kissed a lot of frogs prior to finding her prince, if blindness is your biggest personal issue you are ahead of the game. If you have used it to develop your character in any way, you are leading the pack.

Women are reluctant to become mothers because of RP. This can be the result of eugenecist programming, otherwise known as genetic counseling. Or, it may be a personal bias. I suffered from this initially, but then looked around at other people having babies. They were not perfect. In fact, they were all very human. I also thought about all of the qualities that made my mother exceptional. Not one had anything to do with what she could do. Everything that makes my mom a rock star of a mother has to do with who she is.

This leaves us with retinal specialists. Firstly, I believe God has gifted all of us in different ways. We assign value to those gifts due to our flawed human nature. But, in His eyes, they are all to be used to glorify Him and advance His work on Earth.

So, let's talk gifts. Most retinal specialists, and this is a stereotype, are very task-oriented people. They are used to being able to synthesize large amounts of information in order to solve complicated problems. They are some of the brightest people in the medical field. Ophthalmology is a very difficult residency to get in the US and retinal specialists train beyond that. God gifted them with intelligence, obviously. This does not mean He gifted them with social intelligence. The truly bright ones realize this and compensate for it.

Shakespeare said, "To thine own's self be true". I think he meant, know yourself. If you are really horrendous at something, outsource. The truly exceptional retinal specialist is one who can pair his or her expertise with empathy for people. If he or she has no empathy, some people honestly just are not there, they can hire someone who does. This makes everyone happier.

Delivering a tough diagnosis is a HUGE responsibility. If you do it in less than 15 minutes, you definitely need to hire someone who has some therapeutic skills. If you deliver an RP diagnosis without a low vision referral, you need to hire someone. If you deliver an RP diagnosis without covering new research, you need to hire someone. If you deliver an RP diagnosis without personally calling a week later, a month later, several months later.....you guessed it. You also need to have access to a referral network of RP "vets" with some positivism who can serve as mentors to newly diagnosed people. In short, you need to care.

But. you look at us and you cannot see a person, your "vision" is clouded by your clinical background and personality. You see failure. You hate failure. You rarely fail. We render you totally and completely impotent and you are everyone's "go to guy". You just want us to go away. You tell yourself you want to spend your time helping someone you can actually help. Is that really the case? I hope so.

My retinal specialist is an exception to this rule. He has an empathy gene. That is why I go to him. But, like the dating game, I had to endure a bunch of toads.

My personal favorite is the one who told me, at twenty, to go get genetic counseling. Having children was the last thing on my mind at that age. Had he asked me anything about myself, he would have known that.

I think they tell us about genetic counseling because they have a pamphlet and practice standards that say, "refer patient for genetic counseling." Pamphlets give them some paper to hand out. At twenty, I only went to see this guy after my saint of a mother begged me. I was not really in to paying people to terrorize me, so I usually avoided retinal specialists and their tap dance of doom and gloom. Not to mention the torture of the slit lamp exam on photophobic eyes. Even better is the practitioner who turns the slit lamp to its' highest illumination and invites all his buddies in for a glance. Get a better textbook.

Anyway, when I went to see the retinal specialst in my twenties he gave me a little insight. His exact words were, "If people with RP quit reproducing, this disease would go away."

Another RPer wrote me about he and his wife's favorite retinal specialist quote. They were in the office with their children. The kindly doctor said, "Did you know you had RP when you decided to have these kids?"

All sarcasm aside, I am not here to judge people. I will judge actions. Do not comment on anyone else's reproducing unless you are planning on making babies with them. Because you are officially treading on "none of your business" territory.

How about instead of referring us to genetic counseling you challenge yourself to actually find a solution? Maybe that is why God gifted you with that brilliant brain....to innovate.

I have heard stories of RP- related suicides, suicide attempts and serious clinical depressions. So much of RP, in the early stages, is psychological. I just wonder if some of these people had met someone, with RP, living a happy life if they would have decided to take their own life. There is no way to know this, but I am pretty certain the genetic counseling pamphlet did not help.

I know people who were told they were going blind during a two minute phone call. This is inexcusable and should be malpractice.

I am not out to infer retinal specialists are evil. They provide valuable services for many and will, one day, for us. I do think putting very task-oriented people in a situation which requires strong therapeutic skills is a systemic failure. Maybe a "best practices" guideline could give the specialist access to a social worker. Maybe they could work as a team in these situations. I know if I were an interpersonally- challenged brainiac I would be enormously relieved to have some help.

Discussion wtih Dr. Sapse regarding decline

I have discussed my decline in vision with Dr. Sapse. He disagrees with my theory of the intractable mutant gene triggering a process that will just continue to destroy, kind of like the Pac Man gobbler. He agrees the antiretinal antibodies are the culprits. He is also not a fan of my HBOT idea. He told me this is a normal part of the process and improvements come in "batches". He said the improvement process is not linear in nature, more of a yo yo. I never have liked yo yos. I pray he is right. I have to remember I was just looking for a degenerative process that was not linear in nature, with a downhill trajectory.

He wants me to leave the driving to him and Gonzalez, relax and let the cells do their work. He is a patient man. I am used to leaving the driving to others, but, as my husband will attest, am notorious for backseat driving. Very annoying for any driver, particularly when I have no depth perception.

He also advised me to start taking a particular supplement. My internist is an expert on supplementation, so I get his advice on which supplements to take. When I asked him about this one, he promptly scheduled an appointment for us to talk, off the clock.

There are only two times physicians have done anything for me "off the clock". It is either the delivery of bad news or an invitation to go out for drinks. Since my internist is obviously very much in love with his gorgeous nurse who is also his wife, I really do not think it is the latter. So, I am meeting iwth him first thing Monday morning.

Color Vision Declining

Today the improved color vision is going. My daughter has a hair bow to match every outfit. Over the past month, I got lazy about ordering them by color. I could just depend on my sight to tell me which was yellow, etc.

I bought different types of bows for this reason. For example, if they are two colors that look similar, I make sure one bow is larger or distinctive in some other way. I did fall in love with a set of yellow bows that look exactly like a set of pink ones. Pre-implant I would put them on separate parts of the bow holder.

I have not done this lately because I could just look at them and tell pale yellow from pale pink. Today I asked her to pick the bow that matched. It is a good thing she knows all of her colors.

The Downturn

Documenting the downside is not nearly as much fun, but I promised a number of RPers I would be completely open about the entire experience. So, I was brought up with values that can be most inconvenient sometimes. Now is one of those times. I do not really like dwelling on decline, but I told you I would keep you posted.

The ability to easily read standard print was the last thing to come and the first to go. This started to slip around the same time as the contrast sensitivity. Today is the first day I have noticed the fields starting to close back in. My vision is still slightly better than it was prior to the implant, but the dramatic gains I experienced are gone.

I decided to delay my HBOT treatments until after my next implant. Mainly because I am looking forward to my daughter's birthday and going to the beach.

I have received multiple emails about some more work being done at Moorfields, where they have apparently already restored vision in people with retinal degeneration using their own cells. Why did the Foundation Fighting Blindness not include that in their newsletter? Maybe they did and I just missed it. They are helping fund the gene therapy work in the UK, which is a good thing.

Below is information from Reuters about the stem cell research in the UK. While the article discusses ARMD, the work done would most likely apply to RP as well:

Scientists plan stem cell cure for blindness
By Ben Hirschler Tue Jun 5, 4:07 PM ET
LONDON (Reuters) - British scientists plan to use stem cells to cure a common form of blindness, with the first patients receiving test treatment in five years.

The pioneering project, launched on Tuesday, aims to repair damaged retinas with cells derived from human embryonic stem cells. Its backers say it involves simple surgery that could one day become as routine as cataract operations.
They believe the technique is capable of restoring vision in the vast majority of patients with age-related macular degeneration (AMD), a leading cause of blindness among the elderly that afflicts around 14 million people in Europe.
Some drugs, like Genentech Inc.'s Lucentis, can help the one in 10 patients with so-called "wet" AMD and U.S. biotech firm Advanced Cell Technology is looking at stem cells in other eye conditions. But there is no treatment for the 90 percent with "dry" AMD.
AMD is caused by faulty retinal pigment epithelial (RPE) cells, which form a supporting carpet under the light-sensitive rods and cones in the retina.
The new procedure will generate replacement RPE cells from stem cells in the lab, with surgeons then injecting a small patch of new cells, measuring 4 by 6 millimeters, back into the eye.
U.S. DONOR
The London Project to Cure AMD brings together scientists from University College London (UCL), Moorfields Eye Hospital in London and the University of Sheffield.
It has been made possible by a 4 million pounds ($8 million) donation from an anonymous U.S. donor, who the project's leaders said had become frustrated by U.S. curbs on stem cell work.
Embryonic stem cells are the ultimate master cells of the body, giving rise to all of the tissues and organs. Their use is controversial because many people oppose embryo destruction, although Britain has encouraged such research.
Surgeons at Moorfields have already restored the vision of a few patients using cells harvested from their own eyes, which were moved to a new site. But this process is complicated and only a small number of cells can be moved, limiting its use.
By injecting RPE cells derived from stem cells instead, Dr Lyndon Da Cruz of Moorfields hopes the operation can be reduced to a simple 45-minute procedure under local anesthetic.
"If it hasn't become routine in about 10 years it would mean we haven't succeeded," he told reporters. "It has to be something that's available to large numbers of people."
Similar tests on rats have already proved highly effective.
Pete Coffey of UCL, the director of the project, said he was confident the procedure would work in humans but the team needed to ensure the safety and quality of batches of cells, which would take time.
"The goal is within five years to have a cohort of 10 or 12 patients to put the cells into," he said.
The project, which is non-commercial, was welcomed by patient support groups. Alistair Fielder of the eye research charity Fight for Sight said it represented a real chance to tackle a hitherto untreatable condition.

The thing that is exciting to me about this is both the gene therapy research and the stem cell work is being done in the same place. This means, just maybe, these researchers are playing in the same sandbox with the possibility of sharing toys. One can hope they are collaborative, anyway. Maybe they will combine modalities and come up with something that could truly revolutionize the treatment of these diseases.

It could be revolutionary if they do not suffer from the truly blinding scientific myopia of "cannot confound my data with more than one variable at one time". This may seem logical to you if you spend your day in a lab, go home in your own car and toss your keys wherever, knowing you will be able to find them later.
If you are going blind, losing control of your body functions due to ALS or remembering playing soccer from your wheelchair thanks to MS, you are looking for therapeutic interventions that work and expect them to be tested as such.

According to this article, this work in the UK is funded by an American who was frustrated and gave $8 million dollars for someone to do somthing other than the intellectual equivalent of bicep curls. Firstly, I am really impressed they can do anything with $8 million dollars, if that figure is true.

I do not know what the British equivalent of the FDA is, but if they are already doing this in humans it must have some sensible guidelines and exceptions for certain diseases. The impression I get from this article is that they went from rats to people. Does anyone know if that is true?

In the US, we would still be working our way through the barnyard. I believe it may be rats, then dogs and pigs and finally people, followed by a lot more people? Someone once told me that one rat with RP costs $40k. They use people to test safety, then more people for efficacy, still then more people....Oh and you have a separate group of people who believe they are being treated but are not, to test the treatment against the placebo effect. Yet, Americans die all of the time due to drug reactions, even though the prescription drugs were taken as directed. I am puzzled. Maybe Darran can clarify for me. You can now leave comments anonymously and without registering. As an aside, I really appreciate those of you who have taken the time to comment. It is easier for me to keep up with and very encouraging.

If Moorfields is looking for someone who is willing to have gene therapy and then get a stem cell operation using my own cells or another source of cells aside from embryos, I will fight with you in line to be their girl.

Appointment with Retinal Specialist

Today was my appointment with my ophthalmologist who is also a retinal specialist. The appointment was not confrontational at all. I chose him because he is both brilliant as well as unusually socially well adjusted. Today reminded me of the ways in which he is different from the retinal specialists I have known in the past. He spared me paternalistic, condescending lectures.

So, I took an acuity test. It is the Snellen test. My last acuity test in his office was last spring, prior to the implant. On April 23rd, I had a Snellen test as well.

On the 23rd, my left eye had shown a 20% improvement. Today, it was back to its pre-implant baseline. I am not going to publish details of my vision figures on the internet, for a myriad of reasons.

The reason I did not blog about the positive results I had on the 23rd is that it was a test given to me by my husband, in our living room. My husband also gave a Snellen test to me prior to my procedure. It showed the same acuity figure I received in my retinal specialist’s office. My husband used to run a research lab (non medical) and we do this testing at the same time of day, same lighting conditions, same place, etc. Still, it is in our home so I did not want to write about it until I had some confirmation.

Over the past three days, I have noticed some decreases. Reading standard print is tiring again. The contrast sensitivity is decreasing.

We went out to eat last Friday. My son thinks it is great fun to drop his cup. A couple of weeks ago, spotting things when he dropped them was the highlight of my day. Well, last weekend finding things he dropped became challenging again.

I talked to my retinal specialist about what I had experienced. He and I agree that you can either read a newspaper or you cannot. It is not a “mind over matter” kind of an issue. I wish, in the interest of scientific inquiry, I had gone to see my specialist when I was at the apex of my functional gains. My son had major oral surgery, still I wish I had made the time.

I still feel like my fields are more open. I am doing a battery of testing: EOG, ERG, dark adaptation, angiogram, visual field test, fundus photos, etc. Why you ask?

I am going to go back and get another stem cell implant. Last time, Dr. Sapse advised me to get ozone therapy when I came home. I could not find anyone who did it and, quite frankly, have a life in addition to my lovely pastime as an RP patient. But, my curiosity got the best of me and I did some research.

His rationale of getting more oxygen to the new cells made sense. So, while I know no one who does ozone, I do have access to a hyperbaric chamber. I also perused PubMed and found some articles on hyperbarics and RP.

I am planning on going to Progreso again in September or October, depending on the doctor’s availability. Next time, I am going to follow up the implant with a month of hyperbaric treatments. This experience leaves me with some ideas:

I) I believe that, in my case, the cells did do some repair work. I feel it is most likely being partially undone by the mutant gene (or genes or combination of factors) that causes the retinal cells to commit cellular suicide. In other words, these fresh new cells were corrupted by this bad influence of a gene(s). However, I think it is more complicated because:

II) Two siblings can both have an identical gene for RP. One will be very visually impaired, the other only night blind. So, it is not so simple as being purely genetic, in the sense of one gene causing a problem. There is some sort of trigger in addition to the gene that causes the deterioration. I do not have a citation on this, but you might want to check out Dr. Stone’s work at the University of Iowa. I recall information, but cannot always remember exact citations.

III) In some people with RP, I believe that this process is part of an underlying systemic autoimmune process. Dr. Sapse published work on this decades ago, Johns Hopkins more recently. I do not have the citations, but remember the Johns Hopkins data something like this:

a) In 70% of people with RP and CME (Cystoid Macular Edema) there is a presence of antiretinal antibodies in the sera. In only 7% of people with RP and no CME, these antibodies were present. My conclusion, and I am a liberal arts major so take it with eight bags of salt, is that while RP looks the same in people’s eyes, it is actually different disease processes. I believe that my RP is part of an autoimmune process, that my retina is not immunopriveleged (meaning it is not exempt from being attacked by my body)

Initially this conclusion about my RP was intuitive, then I had a series of experiences that added more logic to the equation.

It was intuitive because I had a whole host of autoimmune issues (yes, I was screened for Lupus and other known systemic conditions). I am young, fit and live a very healthy lifestyle. So, it seemed awfully coincidental that I had all of these concurrent autoimmune conditions, which were confirmed by several doctors and interfering with my life.

Then I had an allergic reaction and had to go to the ER. I was put on very high doses of oral steroids. My vision improved within three days. I found the antiretinal antibody research from Johns Hopkins. During this time, I also approached a number of doctors for oral Prednisone, none of whom would give it to me. Something about gaining a hundred pounds, my bones breaking, cataracts and immunosuppression. I guess I can see their point. But, I found my way to an awesome internist who employed a number of techniques to get my inflammation down. Everything improved but the eyes.

So, it was believed that the response I had to the Prednisone was due to the inflammation in my eyes. Since oral Prednisone is apparently quite nasty, I started getting injections directly in my eye of steroids. These were delivered locally, instead of systemically like the oral Prednisone

I had no visual improvements after the steroid injections to the eye. So, the prednisone worked systemically and my vision improved. The injections worked locally and it did not.

I know medical types can give me a million other reasons why this could be due to other variables. But, I believe my RP is systemic in nature. It is intuitive to me.

So, what next? I feel the missing component is controlling the autoimmune response, which may or may not be possible with the gene (s) in place that were triggered. Dr. Sapse believes the GH-3, which lowers cortisol, does this. I do not know. I will continue to take it. I have done everything I can do naturopathically to control inflammation and modulate my immune system. So, we shall see.

Someone emailed me about a gene therapy operation in the UK. Check out more info on the trial here:

http://www.cbc.ca/health/story/2007/05/01/sight-gene-therapy.html?ref=rss

It would be interesting to see how altering the gene, then systemically implanting placental or adult stem cells and following up with a healthy dose of oxygen therapy would work. Anyone with $150,000,000 burning a hole in their pocket should fund a trial and find out. Or, they could simply try systemic stem cell delivery on the gentleman that just got the gene therapy operation if it does not have the desired result on its own. Start wtih gene therapy, deliver stem cells systemically and end with three months of HBOT. At least, if this housewife with a high speed internet connection had it her way, that would be the case.

I also have to remember my goal when I received this implant. I was looking for anything that could just hold off the progression. My results were totally unexpected. Then, greed kicked in and I had fantasies of driving again.

So, one step at a time. I will keep writing about my experiences as a human guinea pig if you keep reading. One thing is for certain: God is in control. All of this may be a huge lesson in humility, which I believe is valuable in and of itself.