Raising a Child with Retinitis Pigmentosa ~The Diagnosis

*Over the next few weeks I'm going to tell our family's journey of raising a child with a degenerative eye disease to raise awareness of RP and to let those who are going through their own trials and tribulations know they aren't alone.*

Two years ago I took Kyla in for her yearly eye exam. She was excited to get new frames for school and already thinking about the next year when she would be old enough to get her drivers permit. It was a really good day, we were laughing and enjoying hanging out together.



That day changed everything for us. 

Her optometrist saw something during the exam that looked a bit funky in the back of her retina. Not having the correct equipment to really give it a good check he sent us to a local retina specialist. From there we bounced to two other specialists before finding a third specialist that we liked and trusted. It took six months, lots of tears, stress and so much heartache to get to a point where we could begin to cope with the magnitude of the problem Kyla was now facing.

We knew from the moment her original optometrist saw something that Kyla had inherited her father's eye condition, a rare eye disease called retinitis pigmentosa also known as RP.  We'd always hoped and prayed that it would skip her but God had other plans.

So what is retinitis pigmentosa (RP)?

RP is a rare inheritable genetic eye disease that causes retinal degeneration for which there is no cure and very little treatment. Early symptoms include night blindness and a loss of clarity and even color. As the disease progresses there is gradual vision loss starting with the peripheral vision. For example, in her biological dad's case, he only has about 10% of his vision left.

This is a good representation of what we see vs what he can see.


Scary huh.

He's actually lucky in one way though, unlike Kyla he has perfect central vision as long as he doesn't have any swelling. Kyla, unfortunately, has always needed glasses so the impact on her vision has been more severe from the very beginning. Luckily, for now, Kyla's peripheral vision loss is not as severe as the image above but over time it will be.

Eventually, RP leads to diminished or complete loss of central vision. In most cases, this is caused by macular edema. Macular edema is a build of fluid that causes swelling in the macula (a pigmented section near the center of the retina).

On the left is a normal macula. On the right is a swollen macula. Kyla's looks very similar in both eyes.

Getting diagnosed

To get her diagnosed with RP was a very long stressful process. No one wanted to take our word for it, even though her father has RP, which meant that the likelihood of her contracting it was huge. The first specialist we brought her to sent us to another one an hour away because he wanted a better look at her the cones in her eyes. (Cones are what help your center vision remain sharp and process color). The second specialist sent us to a third because the machine he used to see the cones was not working.

Keeping count? That's a total of four eye doctors (1 optometrist and 3 retina specialist) all within a six-month time span.

The third specialist put us through hell. He absolutely refused to believe it could be RP despite a family history of RP and ordered her to have a spinal tap to rule out other issues, like brain tumors and such. I stupidly went along, I guess because I was still hoping and praying that it could be anything else but RP.

It was a hellish experience. What was supposed to be an easy procedure took twice as long because they couldn't find the fluid pocket on her spine. We ended up staying two and a half days at the hospital. My poor baby was terrified and confused.

When all the tests came back negative I thought that would be the end of it. He begrudgingly started treating her for the swelling in her eyes but still questioned the cause of the swelling. We saw him every few months for a little over a year. Each time he had to be reminded he had already ordered a spinal tap and that yes there was a family history of RP.

We finally reached our breaking point and tried going back to the original retina specialist (the second specialist kept pushing onto the third) only for him to discount the pain Kyla was feeling from the swelling. He swore up and down that RP doesn't hurt.

I can't begin to express how frustrated we were. Here we were dealing with a disease that we knew was going to rob our precious daughter of her eyesight and who was in pain but no one would listen to her or believe what was going on. We finally found out that she has some calcium build up on her optic nerve that's probably been there since birth and while it in itself isn't painful when her swelling is high it presses on it and causes slight pain.

Finally, after a very heated conversation with her current specialists, we reached out to our family doctor. This woman has known Mike since he was a little one and while she isn't anywhere near qualified to deal with issues like this we knew she could help point us in the right direction.

With her help, we found a fourth specialist in New Orleans.  We made the nine-hour drive to see her. It was the best experience we had since this whole ordeal started. She immediately confirmed that yes it was RP, she was in shock that Kyla had been put through a spinal tap over it, and was very confused as to why the 3rd specialist was being so obtuse over it all.

Treatment 

As I mentioned earlier there is no cure for RP. They have started a trail on a genetic cure using stem cell research. There are two specific genes that cause the genetic mutation of RP, the trial cure they are working on is on the more common gene of the two and heartbreakingly Kyla has the rarer of the two genes.

So with no cure in sight, the only treatment options center around the macular edema she has. The hope is the doctors can get the swelling down enough that she can lead a normal life for many years. As long as her peripheral vision continues to hold she won't completely lose much vision.

For now, she is on two eye drops and one set of pills.

Over the last couple of years, she's had her pills increased and decreased and her eye drops changed back and forth as the doctors try to find the right combination to help the swelling.

It's an ongoing battle, sometimes the swelling goes down and at other times it goes up. At the time of this post, her swelling has gone done for the first time in almost a year.  We can only hope and pray that it contiunes to go down and remain that way.

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