(written by Linda Eyre)
The funds we raised last year for the I LOVE LUCY PROJECT (nearly $28,000) have been working for Lucy and the Foundation Fighting Blindness. Of course it is just a drop in the bucket compared to the overall need but every dollar helps to move things along. As you probably know, Lucy who has been diagnosed with Bardet-Biedl Syndrome is destined to lose her vision sometime between the ages of 9 and 15 unless we can intervene with research and new scientific discoveries.
Richard and I (Lucy’s grandparents) attended a lecture a couple months ago at the Utah Chapter of the Foundation Fighting Blindness and were thrilled to hear about the progress being made to help people who are dealing with degeneration of their eyes.
When Shawni and I attended the Bardet Biedl Conference at Duke University in June, probably the two best experts on BBS in the world were in attendance. Dr. Phillip Beales from University College Hospital in London and Dr. Niko Katsanis at Duke University explained that the Bardet-Biedl Syndrome was only discovered about 10 years ago. “We spent 10 years looking for the genes that were responsible for the syndrome. Now our challenge is find ways to help with the disorder.“
While going through the amazing lab at Duke they told us that the main problem with Retinitis Pigmentosa (RP) which is the form of eye degeneration that comes along with BBS is that the light receptors in the back of the eye do not get enough protein and so they deteriorate which eventually causes blindness. The following are discoveries, although they are still in the beginning stages of research, that give us beams of hope. This is in total laymen’s language but is what we understand from what we were told:
• Time-released protein capsules for the eye. There is presently a 5-year study that has been approved by the Food and Drug Administration currently being conducted which involves surgically inserting a tiny capsule about the size of a half a grain of rice in the back of the eye which floats in the vitreous humor which is a thin layer of clear gel that fills the space between the lens of the eye and the retina. That little capsule releases a constant stream of protein so that the eye seems to get what it needs to stop deteriorating. It does not restore sight but stops the progress of the degeneration. They are presently 2 ½ years into the study and so it will be another 2 ½ years before they will have definitive results. But that is pretty exciting! Going from being told that basically nothing can be done to save Lucy’s sight to saying that this looks hopeful is fantastic news!
• Lutein. While we know that Vitamin A is good for the eyes, there are side effects if too much is taken. A new vitamin/herb? Called Lutein has been proven to protect eye health and doesn’t have side effects. Of course giving it to a child would have to be approved by a doctor but it seems to be an exciting alternative to Vitamin A to protect the health of the eye without the problems of side effects.
• Bear Bile. Okay we know this one sounds pretty weird but there truly is a connection between bear bile and eye health. Since this involves bears in China and it since collecting bear bile is pretty complicated, they have now developed a synthetic drug that copies the real thing.
• Stem Cell and Gene Therapy. Although there is enormous hope for gene therapy and stem cell research that affects the eye, the process is far too complicated to explain here. Just to give you an idea of what we learned: There are 6 billion pieces of genetic information in the human body. If each represented a penny that line of pennies would wrap around the world 2.8 times! Apparently if scientists can identify the defective gene in all that they can actually take it out, replace it with a healthy one and the disease will be cured. That not only applies to RP but spinal cord injuries, heart disease and hundreds of other things. It doesn’t sound easy but there is hope that as we continue research it will be possible. The possibilities that come with stem cell research is even more amazing but lots of resources are being poured into speeding up the process. What we learned about stem cells is absolutely incredible!
• Valporic Acid. This is a drug that has been used widely for people with seizures and for some reason when administered to patients with dominant forms of RP slows vision loss.
SO onward we go in our quest to find a way to save Lucy’s sight. These new ideas and discoveries are the best news we’ve had in a long time!
There can’t be a more adorable child in the world. In addition to her precocious nature (BBS kids use more of their brains than most of us…just in different ways) her strong will…testified to by her parents Shawni and Dave, will stand her in good stead as she goes through this life determined to get the good things she wants and needs no matter what!