First Exam -- Treatment Plan

We met with Dr. Baker Hubbard today at Emory. He confirmed that Ryan has mid-staged Coat's Disease with slight retinal detachment. That it wasn't in a later stage and that his retina was still attached was good news to us. He is optimistic that it can be treated with one or both of Laser Photocoagulation and Cryotherapy. We really liked him and "team Ryan" has been busy gathering information on him -- his reputation (for his experience and bedside manner) is fantastic. We heard only positive things from a variety of sources (you know who you are and we thank you!)

The good news:
Ryan has peripheral vision in his Coat's eye. I assume he could tell by seeing where the fluid has accumulated on the back of his eye (imagine a glass of water with milk slowly being poured in and then trying to look through that glass). He estimates his vision to be about 400/20 in that eye, so unless there is no further deterioration of the vision from scar tissue after the surgeries, he should maintain that vision. I asked him whether they can drain the existing accumulation (such that his sight could be restored), but there is not yet a procedure for doing so. Perhaps some day there will be.

Avastin:
Some doctors are treating Coat's with a drug called Avastin, which is actually a drug used to treat cancer. Avastin is an FDA approved therapy designed to inhibit angiogenesis, the process by which new blood vessels develop. In cancer patients, this anti-angiogenic process starves the tumor of new blood cells. In Coat's
Disease, it is believed that Avastin would greatly inhibit the development of new blood vessels. This could potentially eliminate the need for repeated sessions of laser therapy and the scar tissue (and decreased vision) the scar tissue causes. We talked to Dr. Hubbard about Avastin and he has not yet used it in children to treat Coat's, but he uses it often to treat age-related macular degeneration, the leading cause of blindness in people over 50 years of age. He is interested in exploring it for Ryan. We'll do some research in the meantime on risks, side effects, etc.

Ryan's treatment plan:
Ryan's first surgery will take place at Children's Hospital on May 11th. He'll perform both Cryotherapy and perhaps Avastin (via an injection into the eye). A month later, he'll undergo an Exam Under Anesthesia (EUA) whereby the doctor will be able to tell how much of the leakage he was able to stop. We'll start the whole process over 2 months later, and with any luck, he'll only need the 2 cycles. He could need 3 or 4, but we're optimistic that two will be the charm! After he feels confident that the leaking has stopped, he'll see him every three months, then six months, then once a year. Unfortunately, the leakage could resume at a later date, so there's always a chance he'll have additional surgeries down the road. Then again, there's the chance that medical technology will progress such that his sight can be fully recovered.

The recovery:
We asked about recovery from the procedure. He said his eye will be pretty swollen that first day and maybe the day after and there will be a red spot on the white of his eye. He won't need to be bandaged, so that's probably a good thing from a "keeping a 3-year-old's eye bandaged" perspective. The timing is good because he'll have recovered for his 3rd birthday party (Diego theme, of course) the following Saturday.

Sigh of Relief:
We've been on a roller coaster of emotions. Relieved he doesn't have retinoblastoma, but scared and sad for the upcoming procedures and also knowing that our baby will always have to live with this and potentially lose all vision in that eye. Our family has always been so lucky in the health department and this has been a very humbling experience.

A funny story:
When we first arrived and were brought back to have Ryan's eyes dilated, Ryan flipped out (now he knows about "the drops" and does not like them!) The technician put a drop onto Ryan's hand to show him that they were no big deal. Ryan promptly rubbed his hand into Brian's right eye, so Brian's eye was dilated all day. Now he can emphathize with what Ryan's experiencing! Interestingly, the drops affect children and adults differently - this particular one lasts much longer in adults. Poor Brian.

Glasses:
In the meantime, we have to protect both eyes, so glasses and sunglasses will be part of Ryan's daily routine. We're starting with "Diego" sunglasses and work our way up...it's not easy convincing a 2-year-old to wear glasses, but he thinks sunglasses are cool.

Our story and Photos

Brian and I set up this blog for several reasons. First and foremost, we are blessed with extraordinary family and friends who have overwhelmed us with concern for Ryan and offers to assist. We want to keep everyone up to date on his battle with Coat's Disease. We are new to this, never having heard about the disease until last week. The other reason is perhaps another family will see similarities in photos of their child and seek an eye exam and diagnosis sooner. We will update this periodically to keep you informed, and perhaps another child's vision may be saved because they stumbled upon Ryan's story. This picture was taken a few weeks ago at Sea World. He was so happy, I just had to include it because it makes me smile. I've posted photos below showing the affected eye, but first, a recent family photo.



Here's our story:
We noticed in photos that our son's right eye (Ryan turns 3 on May 17th) turned out a bit in photos. We also sometimes noticed an odd "glow" in his right eye, also in photos. We brought him in for an eye exam on April 22nd. The optometrist told us that Ryan had very poor vision in his right eye and we talked about a patching schedule in an attempt to strengthen that eye. Thankfully, he proceeded to dilate his eyes (not always an easy task with a 2-year-old, but Ryan was a champ) and saw an issue with his retina. Suspecting Ryan had retinoblastoma (eye cancer) he immediately sent us to a pediatric ophthalmologist who determined instead that Ryan has Coat’s Disease (the two diseases exhibit similar symptoms).

Although Coat’s is very very rare, and really serious, next to eye cancer, we were beside ourselves with relief that he does not have to undergo chemo, radiation, etc. He’ll likely need multiple surgeries – we read that the surgery cycle is every 3 months. The goal of the surgeries is to "stop" the blood vessels from leaking into his eye. Along with surgery, he'll need eye therapy to prevent the eye from becoming "lazy" even though he will have little, if any, vision in that eye. He’ll be 3 in May, so won’t remember the initial procedures, but will always live with it because there is no “cure”. There are other potential problems associated with Coat's (such as the development of cataracts and glaucoma and some others.)

The other battle we'll face is protecting the unaffected eye. Since he'll essentially have eyesight in only one eye, he'll need to wear glasses and sports goggles to protect it. So far, Diego sunglasses are acceptable to him. We'll work our way up to glasses.

We have his first appointment on May 1st at Emory with Dr. Baker Hubbard, a retinal specialist, at the Emory Eye Clinic. We've heard wonderful things about him. The success rate for saving the eye is much better if it is caught sooner rather than later. We will not know what stage the eye is in until the appointment. If it is in its advanced stages, he could lose the eye.

I'm including some FAQ below about Coat's Disease gathered from the internet. We are very new to this and gathering as much knowledge as we can and with such a rare condition, there isn't much out there. We are trying to get all the answers and determine the best course of treatment for our little guy and keep our friends and family informed about what is going on. We're trying to keep our sense of humor, knowing we have a rough road in store for us, but thankful for the outpouring of support we've already experienced. We'll get through this.


About Coat's Disease:

What is Coats’ disease?
Coats’ disease is a progressive condition of the retinal capillaries which occurs in children and young adults -- most of those diagnosed are boys (I've read up to 81%). It is gradual in progress and affects central vision, usually in only one eye. [Ryan's is only in his right eye]

What are the causes of Coats’ disease?
At the moment there is no known cause of Coats’ disease. It is not hereditary.

What are the effects of Coats’ disease?
The main symptom of Coats’ disease is the deterioration in either central or peripheral vision.

What happens?
Coats’ disease causes capillaries in the retina to break open and leak fluid (cholesterol deposits) into the back of eye. The leakage causes the retina to swell, and can cause partial or complete detachment of the retina. It was described on one site as "pouring soap onto your retina".

Is there any treatment for Coats’ disease?
If caught early, some level of vision can be saved (although vision cannot be corrected -- simply keeping the existing vision). The treatment chosen depends on the stage at which the disease was diagnosed (see stages below) If not caught until its late stage, complete loss of vision can occur. In its final stages, enucleation (removal of the affected eye) is a potential outcome.

Surgery, usually by light (photocoagulation) or extreme cold (cryotherapy), can be used. Multiple surgeries are often performed in an attempt to stop the leaking.

What is the prognosis for Coats’ disease?
If applied early and depending on the stage of the disease, treatment may be successful in preventing progression and in some cases can improve vision but this is less effective if the retina has detached.

Stage 1: This stage is typically treated with Laser Therapy. In Stage 1, there is a high probability that some (or most) vision can be saved. Unfortunately, Coats’ Disease is rarely caught in Stage 1. Coats’ typically begins to progress at an age where the child either does not understand or can’t explain the symptoms. Onset of the disease can happen as early as 12 months.

Stage 2: This stage is typically treated with either Laser Photocoagulation or Cryotherapy, depending on the extent of the leakage.

In stage 2a, the chances of restoring some level of vision are pretty good, because the fovea is not yet involved. If the fovea has a dense yellow nodule in the center (this is the “yellow eye” seen in pictures), visual prognosis is not nearly as good.

In stage 2b, vision can still be restored if the fovea is not heavily affected.

Stage 3: (subretinal or retinal detachment). This stage is also divided into stages 3a and 3b. In stage 3a, Laser therapy or Cryotherapy can still be used. Because of the subretinal fluid, Laser treatment is not as effective as Cryotherapy.

In stage 3b, the retina is totally detached. Cryotherapy may be useful if the retinal detachment is shallow. Surgery to re-attach the retina may be required if the detachment is advanced and posterior to the lens.

Stage 4: There is most likely no chance for recovery of vision at this stage.

Stage 5: At this stage, total blindness is present and irreversible.

As you can see in the photos, Ryan's eye is already showing the yellow, so we are prepared for him to be diagnosed in a later stage.

Some Photos

Here are some photos of Ryan revealing the Coat's. At first, we dismissed it as a "red-eye" type reflection off of his "lazy eye".

The first photo was taken on his 2nd birthday in May 2008. Going back and looking through thousands (yes, thousands) of photos, we believe it began in the Spring of 2008. The Coat's appeared more as a "glow" than the "yellow" we see now.




This second photo was taken in September 2008 at the beach. Again, we dismissed this as a camera malfunction or red eye.



And now April, 2009:



We've been asked many times why it's so hard to detect and diagnose. A digital photo flash picks it up, as does an exam performed under dilation. Simply looking at him does not show the condition. We are thankful that the doctor decided to dialate his eyes; otherwise, many more months could have gone by and the conditioned worsened and his eyesight completely gone.

Blissfully Unaware


Here is a photo I took last weekend. The yellow is pretty pronounced now. We don't think he is in any pain (although he's been rubbing the eye). We know that he is about to endure many procedures, surgeries, eye drops, patching, glasses, sports goggles (his mother wanting to put him in a bubble so he doesn't get hurt) -- you name it. We're tortured parents, but he is blissfully unaware of what's to come.

Again, it is fascinating that the condition is not noticable "live" - it only shows up in digital photos when a flash is used (and not always even with a flash). Just as the red-eye effect is caused by a reflection off blood vessels in the back of a normal eye, an eye affected by Coats’ will glow yellow in photographs as light reflects off cholesterol deposits from the leaking vessels.