X-linked reticulate pigmentary disorder

with systemic manifestations
Jesse's Story
Administrator 12 November 2011 PDF Print E-mail
This is Jesse's story. He's the first boy that was known as sick with x-linked.pdr. Today he's a 29 years old man, he has a degree in music, specialisation in piano. He lives in Canada and he shares his flat with other guys. 
Despite the fact that the xlpdr wasn't fair with him, he goes on smiling to life!

Patti Paterson Fulling, his mother, wrote his story: jesseI have spoken to Patrizia and she would like me to post Jesse’s story and I will do with pleasure. Jesse, my son, was a sickly baby from the beginning. Failure to thrive and diahhera and projectile vomiting every time I went to feed him. He had frequent pneumonia as a child and contracted whooping cough at the age of three months. It was very serious. The little trojan came through that but was hospitilized for these reasons. He was allergic to milk so we went to soy as I couldn't breastfeed. This seemed to work. He did get better but at the age of around three I noticed him closing his eyes a lot when he was exposrd to light. Also taking a pic with a flash was out of the picture (lol wee pun there, lol). His skin mottling also became much more noticeable at that age. But his hair was swept back from the beginning. I bought him sunglasses thinking that he was just sensitive to sunlight, but then around the kindergarden age the pain started with the exposure to the sun. When he went to public his classroom blinds were closed so as not to make his life more miserable. He was teased a lot. They called him wolfman and other names. Sometimes when he was out at recess kids would take his sunglasses away from him which made him totally unable to function. As we all know kids can be cruel, sometimes over the edge! But the teacher or school did not contact us about these problems, so we thought things were fine. Not until many years later did Jesse tell us. I was mortified and upset to say the least. I felt guilty...no one told us and he didn't tell us. If we'd have know we would have nipped it in the bud immediatly. He also had to take a taxi to school because riding on the bus was just too hard on his eyes. Then he started having urinary infections...and was treated for that. He only has one kidney born that way. We took him to one doctor after another but no one knew what was wronge with his eyes, or his skin. From one doctor to another! Tortuous eyes tests with bright lights shone in his eyes. It was awful for him and for us. At one point it was suggested by a doctor that he see a phychiatrist ‘cause was all in his head.... Man was I mad!!! In the morning before school when he got up his eyes were very painful. I would put frozen peas on them for 5 mins to hopefully relieve the discomfort which it did. As he got older sunglasses were a must ... He then was going to attend high school and his eyes were very bad. We wanted to enroll him in the school for the blind. We took him to an eye specialist and he would not sign the form.. thinking it will pass. We were furious and so we fired him! Yes, we fired him because he would not talk to us or give us a reason. Finally we got a doctor in Toronto to help us. Dr.Rootman, who then started doing cornea transplants on him six in all. As for the skin complete mystery to all. The doctor who wouldn't sign the form for the blind school also got us blackballed for any other eye specialists because I gather he thought well I know nothing about Jesse’s eye problem so let's just let it all go by the way side. Dr Rootman signed the paper for him and he did his high school at the school for the blind. Since then he has moved on to university, in his last year, wanting to be a music teacher specializing in piano which he rocks at. He has had to take a lot of time off school because of his eye so a couple of years were kinda lost at university. Most of his friends now are either blind or partially. He is doing awsome at school. He just had an artificial cornea a new thing put in his eye discovered by a doctor from Toronto so we were over the moon. This could be a cure for the eyes.. but unfortunatly it now is deteriorating .. and must have a note taker at school. His other eye is too far gone to save. He is a wonderful boy and they are special children. Doctors pay attention we will not give up.. this generation and the next depend on this. My uncle had it, my nephew had it, I had a brother who passed had it, and my cousins two children are affected by it in the eye ways and skin. My aunt also had a child who dies at three months from colitis.... Well that is my story much more to it but I gave you all I have right now.. Any questions please feel free to ask.. Jesse has had two kidney stone attacks as well but has been fixed for them..

Yesterday was not a good day for us. Our son Jesse called us and told us he now has glaucoma.. not just the cornea affected but the whole eye. I tried to remain cool on the phone but the emotion took over. He said sometimes he feels like giving up the fight, but i said to him "never give up hope, and you are a strong boy , we are all fightin with you." Then when he said he is going to retake braille again it really sunk in to me.

Well just got off the phone from jesse. More bad news. He went to the specialist for his eyes today and there is nothing they can do for his glaucoma no laser nothing. But to give him tylenol 2 for the pressure pain. He has another appointment with another doctor just for dealing with the pressure... Thank god canada covers all for health insurance!!

He now knows that his eyes are deteriorating, and that someday no cornea transplants or lazer or anything will work... But we will all press on and hope that someday this crazy rare disease will finally disappear from the face of the earth and some wonderful doctor lab tech researcher, will make Jesse's fight and your childrends fight worthwhile... There will be a cure found! Please to all you docs out there i am pleading with you to get busy and spread the word about this disease! I am sure there are others, other than us that are affected. Maybe just 6 families they know of are affected, but out of those six families are sick children that need your attention and help. Thank you for letting me rant here, and thank you to all the doctors who have taken an interest...

Sorry I rambled but I guess was good for me to get it out. Research ..research...would it be great for whoever finds the defective gene and can cure this.. They would be our hero and the childrens hero and the next generation.. bye for now all take care...