The Struggle is Real

I speak a lot about acceptance and how our family has adapted to our son’s sight loss from Retinitis Pigmentosa. However, I want to be real with you, I’m struggling right now.

We just returned from a visit to Duke Eye Center. Our youngest son, Kai, has previously been followed by Emory. We’ve visited Emory Eye Clinic 3 times over the last 7 years and they’ve run a number of tests and have run genetics tests twice.  At the age of 10, Kai was diagnosed with Retinitis Pigmentosa. RP is a rod-cone dystrophy that causes a restriction in the visual field (think of looking through a tunnel) and eventually, in the late stages, causes the central vision to fail. RP is typically diagnosed later in life and is a typically slow progressing disease.

Our son’s sight loss was different, he began by losing part of his peripheral, but then his central vision was quickly attacked causing him to lose central sight and he reported “blind spots” that would morph and change.  Over the last 7 years, he has lost the ability to read and recognize people. He’s learned to read braille, use assistive technology and walk with a cane. This is not the typical RP progression and when we questioned our Emory team they would shrug and say that he had an aggressive case. We believed them and built a strong community of families dealing with RP.

On our last visit to Emory, we were extremely disappointed. We go every other year, and we look forward to learning more about Kai’s condition and the advancements in the field. However, on this last visit, after a 4-hour drive, and a 4-hour wait in a crowded waiting room, we were told that they had accidentally scheduled him on the wrong week so no testing was available. We had a quick consultation with his doctor but when we expressed that we were surprised at the speed of his sight deterioration, we were given a shrug and told that RP is different for everyone. When we pointed out that we’ve had 2 genetic tests with no conclusive findings, we asked if his case could be autoimmune (AI) in nature? We were told there is very little information about a link to AI disease. Then we were told that we could wait 2-3 years for our next consult.  You can imagine that that didn’t go over well. Not only did we not learn anything new, or get any of our questions answered, we were told there was no rush to come back. I decided it was time for another opinion.

We scheduled with a retinal doctor at Duke who has a great reputation for getting to the bottom of issues. When we arrived we were met by a darling nurse. She was so nice and comforting and completed Kai’s medical history and exam with ease. Then she told us which tests the doctor had ordered which included an ERG. When we heard that he ordered an ERG we had an instant reaction and I said “no.”  Kai had an ERG when he was 10, it was the test that confirmed he had a retinal disease. The test was extremely traumatic for him. It was very painful and scratched his cornea. We were told that he would never require an ERG again — ever.

(Seven years ago, I sat in the ERG room with Kai, they only allowed one family member. He had large hard contacts placed into his eyes with electrodes coming out of the contacts. The electrodes read his retinal reaction to stimulus in the form of extremely bright light flashes. He was in terrible pain and on the verge of panic. The test was terrible, and the contact scratched his left cornea. And to top it all off, the results of that first ERG were delivered via an unexpected phone call at work telling me that my young son would go blind. A PHONE CALL…AT WORK.)

The compassionate nurse listened to our concerns and stepped out of the room to speak to the doctor. She came back in stating that the doctor required it for all new patients. I reiterated that we didn’t want it and that we had been told by Emory that there is no reason to ever repeat it. I asked if he would still see us without that test? She stepped out again and quickly returned with the doctor. He abruptly swooshed into the room and took a seat on a rolling stool. He looked directly at me (mom) and basically said he needs this test in order to make an accurate diagnosis. He does not trust the previous results and he wants it done by his technicians. I started to explain our case, and he leaned close and waved his arms and hands in front of me and said, “I don’t care! I don’t want to hear it!” My husband instantly gave him the “beat down look” and he backed off a bit and turned his attention on Kai. He said that he had a 17-year-old son and that he was confident that Kai could handle the ERG. But, that if it’s absolutely necessary, he would give Kai the version reserved for younger children — performed by draping a wire across both numbed eyes, without contacts. He put Kai on the spot and Kai was visibly shaken.  I gave one more attempt to explain our concerns and was shut down with a forceful wave and the statement that I was putting my fears on Kai and making it worse for him. At that point, Kai began to ask questions and agreed to the version of the test without the hard contacts.  When the doctor left the room, we considered leaving. We discussed it as a family and ultimately Kai said, “I’m willing to try but if it is too much, I’ll say stop and we will leave.”  He’s almost 18, very smart and very brave and we told him that we would support whatever decision he made.  He went through with the ERG test and said that this version without the contacts was much better! Then he had some other imaging and periphery tests. After being there for 5 hours, we went back to the hotel and fell dead asleep.

We returned the following morning and the doctor had ordered another test called an EOG. The EOG measures the retina’s response to light vs. dark stimulus. Then we waited to meet with the doctor. We were all nervous and hoping that yesterday was just a bad or off day for him. As we were sitting in the waiting room, I was reviewing the records that I had brought from Emory. I had attempted to give the nurse a copy earlier, but she told me to hold onto them till later. As I was reading a report, the doctor popped around the corner and said “That’s what I’m looking for!” and proceed to grab the stack of papers out of my hands.  I told him to hold up because the stack included my notes. He seemed impatient as I reorganized the stack and removed my notes. It seemed that the day was off to another bad start.

Shortly after that, he called us into a room and began putting all the results up on the screen. He talked about a mile over our heads for about an hour. I have some random words written down on the back of a manila envelope, including the words: It’s not RP! Eventually, we worked up the courage to ask a few questions, and the doctor was receptive. Unfortunately, the answers were mostly, “you don’t have to worry about that yet…” and “…let’s wait to see what the genetics say.”  He ordered more blood from Kai for genetics testing and also ordered blood from me and Chris to confirm any possible findings in Kai’s test. He was cordial during our time with him and answered the questions we asked. Then, as he was escorting us out of the room, he said: “Kai I’m really glad you overcame your mom’s fears and took the test that I needed.” Then he side-hugged me!  I think I responded something like, “I’ll take the hit, but I was speaking for all of us.”

I’m so grateful for this new doctor’s knowledge and we 100% need people with his keen research mind helping our kids, but we also need some compassion and humanity. It was a rough visit for us all: physically and emotionally. We desperately needed a go-between to help us to understand the information he was providing and someone to compassionately explain why certain tests were needed and exactly what they hoped to learn from the tests.

Here’s what we think we learned:

  • ERG proved that Kai’s right retina does not have as much electrical response as his left. RP typically declines electrical signals bi-laterally at the same time.
  • EOG proved that Kai’s retinas are equally challenged in light vs. dark. In RP, the retina responds less in dark settings.
  • The imaging showed that while Kai’s retina and macula are very thin and damaged in the center, they are healthy on the edges which hopefully denotes that he will retain his peripheral vision.
  • Imaging also showed that he has more “deposits” on his right eye, and again, RP is typically bi-lateral.
  • Back in 2013 Emory lab showed only one genetic finding: a misnumbering in one of his BEST1 genes. We were told it was not causing the sight loss because the other gene appeared normal. This visit we learned that the old tests only showed genes that were out of sequence, and couldn’t detect “deletions.” The Duke doctor believes that when he reruns the test that we will see that Kai’s other BEST1 gene is missing a section and that ARB (Autosomal Recessive Best’s Retinopathy) and not RP is the cause of his sight loss. He said “he hopes” that this is the case as there are treatments designed to preserve his remaining sight. There are also possible transplant options in the future. And, that this condition is almost impossible to pass down, and his wife could take a blood test to see if she has healthy BEST1 genes.
  • If the BEST1 gene is not the culprit, he ordered a secondary scan of his ABCA4 gene. Mutations in that particular gene point to standard cone-rod dystrophy in the Stargardt’s family. The good news is that he would most likely retain his peripheral vision and, like RP, there are cures in the works.

Now we wait. We will not receive any results until we return on May 26th. Please pray for clear answers. At this time Kai says he is not seeking a ‘future’ cure, but he would like to know why he’s losing his sight, how it would impact his future family, and how to preserve his remaining sight.

As you can imagine, we are all emotionally exhausted. We had adapted and assimilated so much info related to RP and now we are stepping into the unknown. We will always love and cherish our RP friends and support network and plan to keep you posted as we walk down a new path of discovery.

duke
Kai is sitting in the black room getting ready for his EOG test. His body language reads “do not touch” because both his arms and legs are crossed. However, he has a slight grin on his face. In the background there is a door with an exit sign above it. As we waited, we strategized running out the door.

 

 

 

 

11 thoughts on “The Struggle is Real

  1. Wow! So much information to take in and I truly do feel for your family. We also had a bad experience with our specialist but we did get a definitive diagnosis out of it so I can be happy with that. Timothy was 7 months old so had the young kid version of the ERG and I don’t know why they would even do the other version that is significantly more invasive. That sounds like an extremely long tiring couple of days for both parents and of course Kai. I really hope you receive some answers in May and maybe a little more compassion.

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    1. Thank you so much Melissa. We went there seeking updated information, we had no idea we’d be facing a different diagnosis. I hope we get some definitive answers in May, too. I’m glad you are certain of Timothy’s diagnosis. Hugs to you. I’m glad us Mom’s have each other for support.

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  2. As I read this a growing sinking sensation in my stomach is getting deeper and deeper. All my past “traumas” of tests done when I was in my teens come back to haunt me along with that feeling of being just pushed aside and spoke down to. I am so, so truly sorry that Kai and the family had to endure this. While it does seem as if this new Doctor has a bit more extensive knowledge his mannerisms and behaviour are just appalling. I have gone through four specialist in my lifetime and it was only the last two that had any compassion combined with knowledge. My very first eye specialist when I was 14 was a horrible person and his demeanor set the stage for the negative way I have dealt with my blindness for more than half my life. Kai- keep your head up and your wits about you. Don’t be afraid to ask tough questions and if you don’t understand what they are saying be firm with them….you are NOT a lab rat to be poked and prodded and then dismissed.

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    1. Thank you for sharing your experience with us Pamela. I’m sorry you also endured this type of behavior from specialists. It is traumatic. We feel traumatized. But it’s a confusing mix of emotions when the person is also “helping” to figure out what’s happening. I think it helped Kai when we acknowledged that the docs behavior was out of line, and supported Kai’s decision to try with the knowledge we’d take him home the moment he decided he’d had enough. Now we wait… I’m seriously going to look into having a social worker or nurse present during our next meeting. Love to you my friend.

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  3. I’m a bit surprised about the ERG test. I had one done recently, they used the fine, wire thread technique. The doctor’s wanting of certain tests is understandable, but kindness should always be the rule. To him it’s routine. To your family, it’s a million miles from routine. Please keep us informed, and the best to all of you.

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    1. Thank you so much. Yes, kindness goes a long way in these situations. After the test Kai wondered, “Why don’t they use that ERG method all the time?” He said it was much easier to handle and apparently the doctor got just as good of information. I’m glad your ERG experience was a good one. Take care and thanks again.

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      1. My retinal specialist quite specifically wanted me to go to a certain university clinic in a specific town. He explained the technique. When we arrived, they explained it again. Much improved over what I’d known in practice. Now my wife and I are wondering if the new technique is not widespread. I’m going to read up on that.

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  4. I’m so sorry you all had to go through this ❤️ It sounded like a very difficult couple of days and the doctors attitude is so disappointing to hear. They may diagnose vision loss every day, but they don’t have to deal with it everyday like we do and some compassion would help!
    I really hope you get some answers in May and a firm diagnosis. One positive if it is stargardts is it shouldn’t be passed to Kai’s future children if he decides to have a family and I await any updates on the genetic results.
    Thinking of you all and as a mum I’m glad you tried to stand your ground for your boy against medical staff who don’t realise how stressful these tests are. I have always refused an ERG and decided I probably won’t ever let them do the test.
    Take care.

    Katie x

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    1. Thanks Katie, when we heard of a possible Stargardts diagnosis I immediately thought of you ❤️ I thought, oh thank goodness we know a strong Stargardts advocate 💪🏻 Kai said this ERG was much easier to get through, so if you ever do you need one ask for a fine wire test.

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