Search for answers
We have requested information from research scientists and from pharmeceutical companies around the world. In every case, we received honest answers from people that are trying to cure diseases every day. We talked to genetics professors at Harvard, presidents of major drug companies and chief research scientists at "cutting edge" biotech companies. Don't hesitate to call, e-mail or write to anyone, regardless of their position. We want to be able to tell Jacob when he grows up, that we did everything we could to save his eye.
Jacob would probably have lost his eye by now, if not for his Retina Specialist, Dr. Mina Chung from the Eye Institute at the University of Rochester (NY). We were told that it was just a matter of time before Jake's eye would have to be removed. Doctors could not understand why we wanted to fight to save his eye. Through a family friend, we were introduced to his doctor at the U of R. Dr. Chung was very honest with us about the extremely low odds of restoring any vision, given the fact that Jake was in a very late stage of the disease . After a few consultations, we mutually agreed to move forward with his treatment, including surgeries. She is clearly a gifted surgeon, but we have also been impressed with her compassion, caring and honesty. When retina specialists from other hospitals would be in town, she would ask us to bring Jake to the hospital to have him examined. When students were studying retinal diseases she would have them examine Jake, since the opportunity to see Coats' patients is so rare. To us, she is his surgeon, and a dear friend.
Update on Jake's condition
It is now December 12th, 2005. It is almost 3 months after Jake's second surgery. His retina has remained fully attached, and he has not developed the intraocular pressure we worried about. He had a checkup last Thursday, and he flinched when his doctor tried to shine her penlight in his eye. He did not exhibit this behavior after the first surgery, so it was encouraging. We are now trying to convince the doctors running the clinical trial in NYC to include our son. He has "compassionate use" permission from the FDA, and we are working to have Jake undergo the treatment. The drug (Anecortave Acetate, marketed as "Retaane") has proven to be very safe, but the delivery method has never been tried on a child. A small cannula (a hook shaped tube) is used to deposit the drug behind the eye. The drug inhibits the development of new blood vessels, thereby stopping the leakage of cholesterol serum into his eye. If we could stop the leakage with this drug, we could avoid the scar tissue that results from the laser photocoagulation therapy. The cannulas in use in the trial have been designed for an adult size eye, and one would have to be designed for a childs eye. We have communicated with Dr. Yannuzzi in New York, and with Alcon Research in Fort Worth, Texas. We will keep you posted on the results........
It is now December 16th. Despite our plea for help, Dr. Yanuzzi has decided to refuse treatment with Anecortave Acetate. He was concerned with the fact that Jake has already had surgery twice, and is only 3 years old. There is also no way to deliver the drug to a child. Jake returns to his doctor in April, and we will go from there. We are still encouraged with his progress, and it might be helpful to just let him be a kid for a few months.
On April 13th 2006, Jake had a follow up visit with Dr. Chung. His retina has now been fully attached for more than 6 months. There is no evidence of new leakage, or cholesterol serum in his eye. This visit was also the first time that, with his right eye, Jake could correctly tell the doctor how many fingers she was holding up. Once she moved 5 or 6 feet away, he lost the ability to count fingers, but 1 to 2 feet away, he was accurate. This is an extremely positive development, and we will never be able to thank his doctor enough for what she has done for Jake.
Jake had a follow up on March of 2007. At that visit, his retina was about 50 percent detached (again). He also developed a small cataract in the bottom right corner of his eye. He can no longer distinguish between "lights off" and "lights on". It was decided at this time that there would not be anything to gain by doing anymore surgery. He will go back in October, for another followup.
Well, Jake had another followup on October 13th, 2007. His cataract has now completely covered his lens. Even after dilating his eyes, we still could not determine the condition of his retina. In order to see the retina, we will either need to have the cataract removed, or have an Ultrasound. His eye pressure remains low, so he is not in any immediate danger. Jake will now go to yearly follow ups, unless something happens in between.
In August of 2008, Jacob had his yearly checkup. His eye is very stable, although it is very cloudy from the cataract. His intraocular pressure was 13, which is great. It was up from 10 last year, but the cataract tends to harden the eye a little bit. His non-Coats' eye is still 20/20. (He is colorblind in his non-Coats' eye.)
Down the road.......
Retina experts are starting to think that there may be a connection between Coats' disease and a disease called FEVR (Familial Exudative VitreoRetinopathy. Here is a pretty good site for information about FEVR:
We are frequently asked if there is a genetic component to Coats' disease, and the answer is that we don't yet know. We spoke to a research scientist at Harvard University. She has been researching Norrie disease for the last 10 years. Norrie disease is a mutation of the NDP gene. The scientist was gracious enough to return our calls, and was genuinely interested in our son's condition. We thank her for her willingness to talk to us. Here is a link to some of her research:
Stem Cell Research
In Jacob's case (and many others), his retina was detached long before he was diagnosed with Coats' disease. The damage to the retina was so severe that, even if we could stop the leakage of serum into his eye, the chance for any vision recovery is almost zero. There is some research going on to determine if stem cells could be used to regenerate retinal tissue. Here is a link to one explanation of what is being done and what is left to do:
There are multiple sites around the country doing research with retinal stem cells. The testing is being done on animals, both mice and pigs.