Here is another rare disease and one that I had never heard of before. This one is genetic and affects the retinas. Although my eye disease wasn’t the same, I do know the worry that goes with having your vision impaired and how scary it can be thinking that you might go blind.
Today I am talking to the creator of the Facebook group, X-Linked Juvenile Retinoshisis Community.
Please welcome Chauntel
Hi. I am a Connecticut transplant, originally from Wyoming. Our home is stuffed full of love … myself, my husband Lou and my three sons (Aidian, 12 y/o in April then Kaleb, 10 and our little one Elijah is 4…. Plus our dog Bentley, Turtle named Tank and a variety of fish and other animals at any given point of time. Our family has been very blessed in our successful businesses (my husband is a Painting Contractor and owns his own business as well as he & his father in Papallo’s Painters plus my own Decal and Gift business, Simply Elegant Decals). This year our boys are in 3 different schools, all running on different times so it has been a very busy year!! We keep ourselves busy by helping with our church any way that we can, sports and instruments, playing outside, trying new adventurous things!
Please tell the readers a little about the group.
The group “X-Linked Juvenile Retinoschesis Community” is just that…. A community in every sense of the word but before going into all that is I guess it is first essential to know just what X-Linked juvenile Retinschesis (or XLJR) actually is. XLJR is a disease that is inherited from mothers (females), almost exclusively only to affected sons (males) that causes a progressive loss of central and peripheral vision because of degeneration of the retina. Even though the condition starts at birth, it typically isn’t diagnosed until school age when children start showing symptoms deemed simply of “po or vision”. Early symptoms usually include a strabismus (inability to focus on an object or involuntary eye movements… both aside from the obvious notice in decline of actual vision explained from the affected. The vision loss is because of the disease splitting the retina into 2 layers. The most noteworthy affected part of the split that is distress caused to the macula which is responsible for fine details and color perceptions. Although there is a wide scale of degree of severity, the macula is almost always affected. Peripheral is affected in only about half of the people.
The “X-Linked” part of this as started above is simply because it is carried through families by the X-Linked pattern of inheritance because the X-chromosome is where the disease is found. Simply put, almost always, females are the carriers of the diseased gene and are unaffected by it’s symptoms but is passed onto the males in the next line of genetics in which they are affected. The likelihood for passing down the gene is 50/50 for sons or daughters (either as affected or carriers). Although this is the most basic and short explination, you can visit sites like http://www.blindness.org/eye-conditions/retinoschisis , https://nei.nih.gov/faqs/retina-juvenile-retinoschisis and https://rarediseases.org/rare-diseases/x-linked-juvenile-retinoschisis/ , http://www.blindness.org/eye-conditions/retinoschisis
for more quick FAQ or more in depth explinations.
Focusing back on the Community part of the group….we are just that. A community. A collection of members from all around the world. We are mothers, sons, aunts, brothers, some affected and some have loved ones who are. Some are completely new to this world and some are veterans who have been able to witness the progress made in foundation-funding trials, tests and more. We have questions askers, and those who answer. We are home to all ages, races from so many countries but being so inclusive we can proudly say that we are the ONLY active group specific to XLJR (there was one other group previous that was not active and most members have since moved over)! We are supportive and proud, inquisitive group from all over with one common factor, XLJR in our lives. We have some of the most unique members who offer so much in fellowship with other members both in aligning to situations and as putting some worried minds at ease.
It can be quite difficult, for example, when a family first finds out that their child is diagnosed and a world full of unknown especially after hearing what a rare genetic disease that this is. When they search as many do now on Facebook, they will find us. They can list their concerns and ask their questions. And not only do they get to bond with other families but they can hear the point of view from grown children who are more readily able to advocate for themselves, needs and often ease concerns.
What inspired you to create this group?
When my middle son was 3 months I had noticed that he had a slight eye turn and brought my concern to his regular doctor, they assured me it was probably nothing and couldn’t give a referral for an eye doctor until the 6 month mark if it was still needed at that point. K’s 6 month check-up came and I acquired a reluctant referral to take to a familiar eye doctor’s office. That appointment changed the lives of so many that day. The Doctor had given him a 10 minute look over but kept coming back to 1 certain position. He made sure that K’s father and I were both sitting down and immediately started to instill panic in us, telling us that K was at risk of going blind at any given moment and to be extra careful with him. The Doctor explained that there were only 3 specialists in the whole country for XLJR and that is what our son had. He had already had his secretary contact the specialist in NYC and they were awaiting us as we should leave strait away to go there. Well, K’s father and I took off to pack a bag and were too upset to drive so K’s grandfather came to the rescue to chauffeur us the 3 hour drive away to The City. On the way there of course we were updating friends and family, Googling any research we could find but alas it was not much. We ended up at the office of the XLJR Specialist and here is where it all changed again…. They were not expecting our arrive (but simply a phone call to schedule something), that K was not in eminent danger of going blind driving over a pot hole. The Specialist told us we were safe and took a quick peek, confirmed diagnosis but said that everything would be okay, we would schedule a follow up full examination soon. From that day onward the following few years we learned more and more, little pieces at a time. Every 6 months we would travel to Boston to have our new specialist put K under anesthesia (which was nerve wracking in itself…. So much so that this mom had to send K into the room with Dad to help him “take a nap” because I certainly wasn’t the best fit after being present for the first time! Since those scary times things have calmed down, less frequent specialist visits and starting school … K is in 5th grade, playing sports, plays percussion in Band and Jazz Band, a member of safety patrol and participant of STEP. We navigated though very murky waters with limited information available and doctors who would answer questions but we just didn’t know the questions to ask. About 5 years in, my eldest son was checked on by the specialist and though he showed no signs of XLJR he does in fact have the disease, which the doctor then described as “non affected”. All of that really brought on a new wave of confusion so from there I started a new wave of research that lead to the fact that I wished that there was somewhere I could just ask a question or where I could talk to ANYONE in similar situations. I ended up finding only ONE group on FB from out there in the whole world and I found that the group wasn’t active. Long story short, from there I was able to make contact with one person from the inactive group and start my own, adding her as an admin to the current group.
What would you like this group to accomplish?
I feel that this group has already accomplished its original goals of making an active network for he XLJR Community to come to with questions, concerns and making connections. We have many members of all ages from all countries who have made amazing contributions. There have been various posts recently about various trials being done from all around. The hope is that with all of these trials and sharing of information more and more progress can continue to be made. We went from thinking there were only 3 specialists in the country and no information to now having a Community of 312 people each with their own unique story and journey to share and all of our paths have crossed by using a global platform.
Oh yes, and Erik Weihenmayer. He is also on my goals list! He is a very well known adventurer who also is affected by this disease and though I have followed him for a few years now, read articles and stories, stood in awe of his photos of mountain climbing and reading his words about life and his family. Having his recognize and maybe even join our XLJR Community would not just be a personal accomplishment but also would be so beneficial for the exposure and awareness!!
Thank you Chauntel for taking the time to tell us about this much needed group.
Click here to find this group – X-Linked Juvenile Retinoshisis Community
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