This is my beautiful or now I should say handsome son Hudson. He is perfect in every way possible! The only thing is, I passed some not so great genes on to him and he has juvenile x-linked retinoschisis.
The following is XLJR as defined by the Foundation for Fighting Blindness...
Juvenile retinoschisis is an inherited disease diagnosed in childhood that causes progressive loss of central and peripheral (side) vision due to degeneration of the retina.
What are the symptoms?Juvenile retinoschisis, also known as X-linked retinoschisis, occurs almost exclusively in males. Although the condition begins at birth, symptoms do not typically become apparent until after the age of 10. About half of all patients diagnosed with juvenile retinoschisis first notice a decline in vision. Other early symptoms of the disease include an inability of both eyes to focus on an object (strabismus) and roving, involuntary eye movements (nystagmus).Vision loss associated with juvenile retinoschisis is caused by the splitting of the retina into two layers. This retinal splitting most notably affects the macula, the central portion of the retina responsible for fine visual detail and color perception. On examination, the fovea (the center of the macula) has spoke-like streaks. The spaces created by the separated layers are often filled with blisters and ruptured blood vessels that can leak blood into the vitreous body (the transparent, colorless mass of jelly-like material filling the center of the eye). The presence of blood in the vitreous body causes further visual impairment. The vitreous body degenerates and may eventually separate from the retina. The entire retina may also separate from underlying tissue layers causing retinal detachments. The extent and rate of vision loss vary greatly among patients with juvenile retinoschisis. Central vision is almost always affected. Peripheral (side) vision loss occurs in about half of all cases. Some patients retain useful vision well into adulthood, while others experience a rapid decline during childhood. Is it an inherited disease?Juvenile retinoschisis is genetically passed through families by the X-linked pattern of inheritance. In this type of inheritance, the gene for the disease is located on the X chromosome. Females have two X chromosomes and can carry the disease gene on one of their X chromosomes. Because they have a healthy version of the gene on their other X chromosome, carrier females typically are not affected by X-linked diseases such as juvenile retinoschisis. Sometimes, however, when carrier females are examined, the retina shows minor signs of the disease.Males have only one X chromosome (paired with one Y chromosome) and are therefore genetically susceptible to X-linked diseases. Males cannot be carriers of X-linked diseases. Males affected with an X-linked disease always pass the gene on the X chromosome to their daughters, who then become carriers. Affected males never pass an X-linked disease gene to their sons because fathers pass the Y chromosome to their sons. Female carriers have a 50 percent chance (or 1 chance in 2) of passing the X-linked disease gene to their daughters, who become carriers, and a 50 percent chance of passing the gene to their sons, who are then affected by the disease. What treatment is available?
Foundation-funded researchers are currently working toward launching a clinical trial of gene therapy for retinoschisis. This potential treatment works by replacing copies of the disease-causing gene with healthy copies. Visit the clinical trials section of the Foundation’s Web site for more information on this research.
The Foundation is funding other research projects to identify compounds that can preserve vision. Future stem cell treatments might also benefit people with retinoschisis. A recent study showed that a drug called dorzolamide may improve retinal health and restore some vision in people with retinoschisis. Individuals with juvenile retinoschisis may also benefit from the use of low-vision aids, including electronic, computer-based and optical aids. Orientation and mobility training, adaptive training skills, job placement and income assistance are available through community resources.
We discovered Hudson's XLJR at 6weeks of age. Hudson was born August 13, 2007. He was a full term baby but due to some difficulties at birth he ended up spending 10 days in the NICU and was on oxygen for one afternoon. Because he was on oxygen we were asked as a precaution to take him into a pediatric opthamologist to make sure he had no "eye problems". So we loaded up, downtown Houston, Texas in the hot late summer afternoon. Thankfully my mom was with me. I had no idea what to expect or what was coming my way! In the exam room they "papoosed" Hudson, or swaddled him super tight in a special blanket, turned out all the lights and held a light and a special eye piece up to his eyes. Within minutes the very unfriendly doctor announced that he was "severly far-sighted" and she didn't think he had any vision...Um, what? I argued with her that was impossible, but I had failed to mention that my dad and uncles have this random eye condition and maybe, my little guy could have it? I did mention this to the doctor and at that point she looked at me and said, "you knew this and you still had children?" seriously, she really said that to me. She then told me she couldn't help me any further and that she had called in a favor to a retina specialist and he was staying late to see me and for me to go there now. So we loaded up in the car and I somehow managed to make it across Houston in rush hour traffic with blurry eyes from all the crying. We got to the retina specialist and the doctor himself met us at the door and let us in. Same thing, papoose Hudson, hold him down screaming and crying. They just kept putting more and more drops in and he kept screaming then finally they had this clamp like thing that held his eye open. I was beside myself hysterical...my child was 6 weeks old, what were they doing and why didn't they tell me anything? The doctor examined both of his eyes for well over an hour and said the same thing, that he felt Hudson didn't have any vision and in his 50+ years as a retina specialist he had never seen retinoschisis in a baby. He couldn't even give us a course of treatment other than to tell us there were places that could provide services for us....Really, you just tell me my child is blind and that's the best you can come up with?
Needless to say, at the time it felt like the most devastating thing I could imagine. All the hopes and dreams I had for my little boy were washed away, just from two complete strangers seeing us in a two hour time span.
I chose not to accept this and did my own research, found my own doctors for my son and got a more optimistic outcome for his life. I mean, it wasn't a death sentence...he would still grow up handsome and wonderful and just get to wear some really cute glasses!
After searching around we started out with the pediatric opthamologists from Texas Children's Hospital. They took one look at Hudson and said he did have some severe problems from the retinoschisis but he also had vision.
Fast forward almost seven years later. Hudson just finished Kindergarten, reads on a third grade level, plays sports, is hilarious, charming and unbelievably smart. His vision is bad...like 20/400 bad and it isn't improving. We are trying some new eye drops and hopefully starting a clinical trial with the local Retina Foundation in Dallas.
Hudson is slowly learning that he is different. He has glasses, he gets special help from a vision therapist, mobility specialist and occupation therapist at school. Other kids are noticing this too and some are not so nice about it. (Makes this momma bear really upset at the kids and their parents...parents, teach your children that not everyone is created the same!) Hudson did get in his first fight at the end of kinder this year. The boy kept teasing him and teasing him...(seriously my Hudson is a huge kid and I can't believe his size alone didn't distract the other kid but Hudson is a gentle giant), apparently Hudson finally had enough of the "teasing" from the other kid and popped him in the nose. Let's just say the teacher "didn't see anything" and mom and dad may have given Hudson a "freebie" for that one!
So this is the story of my wonderful Hudson and his bad X-chromosomes that I gave him. (Let me say, I do have another son born three years after Hudson and he shows no signs of the disease...genetics are a funny thing!) Feel free to comment or message me if you have any questions. I'm learning that we are small family of individuals so we have to stick together!
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