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Living with XP, CS, and TTD

  

Fatima

 

 have told them so much about XP, but they don't get it. To make this story short, when I went to visit my family, one of my sisters was driving. She didn't protect me from the sun at all. The previous burn I have on my face got worse. Then, when I arrived at my father's apartment, the windows weren’t protected. He said to me, “It’s cloudy today.” I said to him, “It’s cloudy, but the sun is behind the clouds, and still I can get burned from it.” I argued with my father and sisters, and I spent the time in the closet. I came back home the following day. I tried to be with my parents, but they don't cooperate with me. I wish to have family support, but it’s impossible.  Well, I have given up. I can't deal with their stupidities, and ignorance. I really feel alone fighting XP.

 

 

 

For those of you who don't know me, I want to introduce myself to you. My name is Fatima, I am originally from the Dominican Republic, I have XP-C, and I lost my sight at 20 years of age. I was diagnosed with xeroderma pigmentosum when I was six months old.

When I was living in Santo Domingo, my parents didn't know much about XP. So I grew up under the sun without any protection. I didn't even wear sunglasses to protect my eyes. I got to know about XP here in America, while I was at Camp Sundown in 1998. When I first learned about XP, it affected me a lot. I finally understand why I constantly had opened sores on my face, and many keratoses on my arms and legs. I could also finally understand the reason why I lost my sight. It was a combination of sun damage, and harmful radiation treatments I received when I was living in the Dominican Republic — I had about 40 anti-cancer radiation treatments that were very hazardous to my body. The cause of my blindness is also due to the fact that my cornea got severely burned from the sun. I still have my left eye, but I only have light perception. My right eye was removed back in 1984 in the Dominican Republic due to poor, unjust various treatments. I’m very grateful to God that I’m still alive. I think that if I’m still here, it is for a good reason!

Can you tell me about the XP Society and Camp Sundown? 

The XP Society is such a wonderful organization, and I’m proud to belong to it. My experiences at camp have been unforgettable! Camp Sundown is my sunshine, my hope and outlook in life. It is a place I go every year to learn, and share my afflictions and difficulties in life. The first time I went there, I met Caren & Dan, its founders, and all the volunteers who are so full of love and care. I also spoke with other people with XP, and their families. I immediately had the sense of belonging to an extended family of warmth and caring love.

I am very excited in seeing the new camp building. It will be so exhilarating and amazing to see all of our dreams come true. I can't wait to be there next year, to share it with everyone else.

God bless the XP Society and Camp Sundown founders. Also to all of you, my shadow walker friends!

Maryna

 

o find a doctor here in South Africa who can diagnose XP is very hard, just about impossible. And one that understands is just as hard. Most of the doctors I have been to all my life didn’t have a clue what was wrong with me and very often diagnosed me wrong. I was 25 when I was diagnosed after being from one specialist to the other.

The doctor who did eventually diagnose me was an ordinary GP. He was really interested in his patients. I went to him for a tummy ache he asked about my history, and on the second visit he told me I had XP. I didn’t believe him at first, so I went for the tests and it was confirmed. He really has a lot of interest in all his patients and understands all my moods — he’s really always there for me. When my medical aid is finished for the year, which happens so fast because of all the surgeries, he does everything for me without sending me a bill. So I’ll say he’s one in a million. I was lucky to get him for my doctor — just a pity it took so many years.

How do you communicate with people who don't understand your condition?

That’s not easy. Some people just don't want to understand that I have a problem going into the sun. In the beginning I would always argue and try to make them understand, but it never works, so now I just ignore people who think they’re clever. I have family that would always invite me, my husband, and kids to catch fish knowing that I cant go sit by the dam in the day. When I would say something about XP, they would always say I was a spoilsport, and did not know how to enjoy life. In the beginning it was hard for me but now it’s not so bad.

What about working?

I’m married. I never worked while my kids were small because it was important for me to stay home with them. But now that they’re teenagers, I can’t stand being at home, so for the last two years I have been working, not because I have to but because I’ll get depressed just sitting and doing nothing the whole day. I really find that when I keep myself busy I don't feel so depressed.

Having XP and having kids has its ups and downs. I think my kids have helped me through tough times when I had lots of surgeries one after another. Sometimes I could not get out of bed for weeks. They pulled me through — they never gave me time to feel it was too much for me and they were my reason for getting well again.

How do you get your shopping done?

Most of my banking I do on the internet from home, so it saves me time standing in long lines. My shopping I do myself, because my husband hates to go shopping, but inside the store I’m undercover.

I’m lucky I’m not very sensitive to light for an XP patient, but I just need 10 min in the sun to look like a tomato, and then I need a few days before the burning stops. And the pain is not always bearable and makes a person very agitated at times, and can even make me feel depressed.

  

 

Maria and Sammy-Joe

 

y son Sammy-Joe has TTD and has only recently been diagnosed. He’s 13 years old. He was born by emergency caesarean section at 38 weeks. He was smaller than expected for a child at that age, and his head was small compared to the norm. He was born with curly, brittle hair that was short and sparse, small eyes, dry skin, and he was very floppy. He weighed 5lb 2oz and lost a dramatic amount of weight in the first two days of his life. 

He is photosensitive and refuses to wear short sleeves due to the sun hurting his skin. For years I couldn't understand why he wanted to wear long sleeves on a day when the temperature was 40°C (^~106°F). Now I know why…TTD makes him photosensitive.

He’s quite fragile and sometimes unsteady on his feet, and often faints when he’s unwell. He has lactose intolerance, ataxia, speech delay, autistic characteristics, poor weight gain and stunted growth. Certain sounds and lights affect him, triggering him to scream as if in pain — which I now understand at times truly hurts him.

Aside from all the trials and battles in his life, he is a happy child that has a passion for books, videos, nursery rhymes, The Muppets, animals, stuffed toys and James Hird from the Bombers (the captain of an Australian football team). 

 

Why did the diagnosis take so long?

When Sammy-Joe was a baby, I found it quite difficult to convince doctors that something was wrong with him. They had tested him in every avenue they could, and they couldn’t find anything. They came up with no reasons for why he would have a fever and then lose his hair, or for why he had failure to thrive and floppy limbs, and was sick all the time. He would get dehydrated, and they would send us home after rehydrating him for what they thought was a mystery virus, with no answers. Now this went on for the first ten months of his life, and at ten months old he was the size of a six-week-old baby. Then after going up and down to the hospital several times a week for that whole time, I had to scream for help. I just said to the doctors, “What is it? You have to help us, you know I can’t sleep, I can’t eat, and I can’t shower. My baby is always throwing up and has a fever. He loses his hair, he doesn’t do anything like other babies, and he’s always crying. If you don’t admit him and keep him in, I’m going to find someone that will!”

I think I scared them and then, finally, one doctor listened. He was like an angel to me. He got down on his knees, held my hand and said, “You’re right, there is something wrong with your child. Nothing that you’re doing is causing this. He’s a sick little boy and if he isn’t admitted, he’ll die overnight."

Although one doctor looked after Sammy-Joe for eight years, there were still times when I had to take him to see new doctors because his regular doctor was away. Those are the times when I felt undermined the most. It was so difficult to explain to them what was actually wrong with Sammy-Joe. I tried to tell them that he communicated with gestures and expressions and that’s how I knew that the sun was hurting him and I told them he would scream as if in terrible pain whenever he was exposed to light.

Some of the doctors thought it was strange that a child that had no speech could communicate something like that, and they always thought it to be behavior. I felt that for a long time I had only one doctor in the whole entire medical world that believed me.

How did things change after the diagnosis?

When I got the diagnosis for Sammy-Joe's problem, my whole way of thinking changed. The day that I got it, I was in a daze, and I knew that the news was going to be bad. I had felt for a long time like my life was trying to prepare me for that day. It’s a hard thing — you’re never really prepared to hear that kind of news, even though you know that something is not right, it’s so very hard to accept that it has happened to your child.

Not knowing, in a way, gave us a sense of false hope because you feel like one day maybe your child will just wake up and be

all right, that somehow he will grow out of this. But when you get a diagnosis it’s like a train runs you over and you get up only to get hit by a truck.

 

You’ve been able to get some media attention.

I’d like to find other families around the world that have children with TTD, and also any adults with the disorder. 

The [media people often] want me to attack the doctors because Sammy-Joe went undiagnosed for 13 years. I know and understand that some sort of medical oversight has occurred but my intention is not to throw blame here nor there. Sammy-Joe has been looked after and managed by doctors for 13 years all I want to do is raise awareness and have some sort of research project encouraged down here in Australia.

Sammy-Joe would like to tell people to listen to their bodies and trust what you’re feeling and also to protect yourself and don’t push yourself too much if your body is saying not to go outside or not to stay out there for too long — don’t! He would also like to tell people that you can still live a life having TTD — you are still a person who loves things.

Anything else?

Sammy-Joe has two pet guinea pigs which he let loose in the house one night. We had a bit of an adventure trying to treasure hunt them, and he was laughing so much, he had tears rolling down his cheeks. This is how I want to see Sammy-Joe: happy and smiling! He is such a joy to have around!

Polly

 

 never liked being outside, never. But when I was ten we went to our lodge in Canada and I was out a lot. I broke out, had white bumps all over me and I guess I wasn't feeling well. Mom and Dad took me to a doctor and that is what he told them. They really didn't do much about it. They are outdoor people and wanted me to be one too. I never was, no matter how many tennis lessons and golf lessons they would sign me up for I would get sick and drop out.

What about finding doctors and dentists who understand the disorder?

I can’t find a doctor in this area (West Virginia) who has any concept about what it means to have a light sensitivity disorder, so I’m not under a doctor’s care for this problem. But I was turned down of health insurance because of it once.

 

It is so easy for a doctor to say, "stay out of the light, stay away from windows and keep covered up when outside," but it is not that easy to do it. I’m glad you want to educate doctors a little — they sure need it.

 

I haven’t had a tooth filled in a very long time, and my light tolerance is not as good as it was. I’m concerned that the dentist won’t feel the need to take precautions, and I’m not sure I’d feel insistent since I can recover from the exposure after being sick, not like a person with XP. My appointment is Sept 26^th. At least late September is a better time of year. I love the fall. I can get out and about a little more then. It isn't so hot, and being covered isn't so miserable, and the sun is further from the planet and not quite as strong.

 

 

 

 

 

 

 

 

 

 

 

 

How do you feel after a bad exposure?

I get weak and dizzy. I’ve passed out this year. I also cough, throw up and have diarrhea. It can take one day or four days for me to get over it, depending on what I have to do and how much light I have to tolerate on the other days. It is cumulative and it seems that during the summer I never get caught up. I’m doing pretty well today: I’m weak, have an upset stomach but no running to the bathroom, yet. Some days the second day is worse. I have no idea why, except that I start to feel a little better and may try to do too much. The first day after a bad light day is usually just sitting still and trying not to be too sick.

Oh, I forgot, in the symptoms I get the feeling that my skin is sunburned and it itches. This is so much a part of me I forget.

How do you get around the problem?

You just try to limit your light exposure and try to plan you light days with your dark days and not have too many of the light days running together.

How did you find the XP Society?

I was surfing the net trying to find someone like me and came upon the XP group. I had always wondered if what I had was XP. At that point, we had a guest book where you could sign in and I did, saying that I wondered if I had a form of XP. Pat, a volunteer, wrote me a very kind letter and invited me to join and the rest is history. They sure keep me grounded, and it’s nice to know you’re not alone when you’re alone.

The XP Connection (a mailing list) has helped me with resources, online information regarding light sources, suggestions on clothing and other things

to make living easier and support. They let me know I’m not crazy, I’m no different then they are and coming from someone who has felt different all her life, that is a good thing.

The first night at Camp Sundown I had to cover up, and no one thought it strange. They all understood. It was nice to be treated like I mattered, that making accommodations for me wasn't an inconvenient, because others needed them too. To be part of the group instead of on the fringes was great. We had learning sessions during the day, sharing sessions all the time and it was a nice but too brief glimpse into the normal world.

 

 

Monika

 

have suffered from sun sensitivity for about 15 years, with the last 5 years having symptoms that necessitate that I not be out in the sunlight at all without protective clothing covering every inch of skin and my eyes. Until very recently, I didn’t have a diagnosis; I’ve now been diagnosed with Lupus. Up until this year, I couldn’t get my doctor(s) to take my concerns seriously (I have had more than one doctor in the past 15 years).

 

Until now, after 15 years I was unsuccessful in finding a doctor who was capable or willing to assist me with this problem. I have seen 4 family physicians during this time. The best advice/treatment I received from any of them was "stay out of the sun" and one of them prescribed a mild cortisone cream to put on the rash.

How do you approach things like shopping, getting to the bank, etc.?

I hate shopping.

There are several reasons for this. One important one is that I don't go anywhere without a hat, veil, sunglasses, long sleeves, hand covers, etc., and people stare, make rude comments, usher their children away from me, etc. The lights in stores are ridiculous (are they selling merchandise or landing a plane in there?!?). Consequently, I spend very little time at the mall. I do the majority of my shopping by catalogue over the phone.

The grocery store is finally used to seeing me veiled as I do my shopping (the florescent lights are uncovered and very harsh), and has stopped having store security follow me around!

Driving is one of the biggest challenges, because I can't obscure my vision with my heavy veil. Consequently, I wear a fabric called "Sunveil" over my face, which is not as effective, and I often get burned while driving. My hands are also particularly vulnerable while driving and I keep a towel over the steering wheel in addition to my hand covers to help prevent the burns/rashing.

How do you communicate with people who don't understand your condition?

My own family does not understand. My dad cannot understand why I can't go outside even when there is shade available to sit under without being covered. Even then, I often don't go because it is too hot and I have little ability to control my own body heat and need to be very careful about getting too hot. My sister gets very frustrated that I turn down her invitations to BBQs or Shakespeare in the Park over and over. She has accused me of being antisocial and a hermit. My mom thinks it is very odd that I sleep during the day. My close friends make accommodations where possible, but often I get left out of group activities because the majority of people prefer to do things in the daylight.

What about making a living?

I work in an office as a paralegal and I also work as a trainer/public speaker. The florescent lighting has been removed from my office, but I often get burned during meetings or training sessions. Not much I have tried alleviates this problem. I have to make a living though.

 

I am often sick by the time I get home and usually go to bed at 5:00 p.m. and get up at 9:00 p.m. and then catch a few more hours after 3:00 a.m. This gives me some opportunities to get house and yard work done after the sun goes down.

 

What about other aspects of life?

I got married on September 28 and it was the most perfect day. It snowed the day before and the day after the wedding but was beautiful the day of. Everything went off without a hitch — except that one of the groomsmen left his keys in my dad's car, and my dad drove off to the ceremony without telling anyone. This left four groomsmen stranded with no way to get to the church except in the limo with the bride and groom, which was a bit of a drag (no smooching you know!).

The service was lovely and the reception was excellent. The jazz duet we hired to sing both at the church and the reception was the best part. The two singers are friends

of mine, but one told me she couldn't do it. She has recently been diagnosed with MS and epilepsy and she felt she did not have the strength to come even as a guest — I was very disappointed but the remaining lady said she often works with a fellow who is also very good. As I was waiting on the church steps (because everybody got lost coming to the church) for the musicians with much anxiety, I saw them pull up and my friend got out of the car! I was so happy I almost cried and ruined my makeup! She said she spent the past four days in bed resting up so she could sing at my wedding.

She sang “Amazing Grace” a capella as I came up the aisle. Not a dry eye in the house. It was a spectacular day that I shall remember every detail of for the rest of my life. 

 

Finding a light in a Doomed Child’s Darkness

By Michael Rosenbaum, M.D.

 

 first met this baby in the newborn intensive care unit and something was clearly wrong. He was a full-term infant and there was no history of any problems during the pregnancy, yet he weighed only four pounds.

Even more worrisome, his intrauterine growth retardation was symmetric. Babies who are small at birth because they have had poor prenatal nutrition usually have more stunting of their weight than their height, and their head size is usually normal.

The baby was small on all three measures, an indicator that points to a serious genetic, toxic, or infectious problem during the pregnancy. He had extraordinarily small eyes, slightly malformed ears and multiple contractures of his joints so that he could not fully extend his hands or feet.

We asked an ophthalmologist and audiologist to see him and discovered that he had cataracts in both eyes and poor nerve function in both ears, resulting in profound loss of vision and hearing.

I had never seen a child like him, so I described him to a geneticist and ran his symptoms against a database run by the National Institutes of Health. Both the geneticist and the computer came up with the same response: this baby had Cockayne’s syndrome.

Cockayne’s syndrome is named for Dr. Edward Alfred Cockayne, an English physician who first described this disorder in 1936.

Its milder form (Type I) is rare and horrific, and those affected usually die in their teens or 20’s. This child had Type II Cockayne’s, the rarer form. There are only about 30 cases reported, and death usually occurs in the first few years of life.

Cockayne’s syndrome occurs because of a defect in the process of repairing RNA. Human cells make proteins by first copying specific portions of the genes (DNA) into a similar molecule called RNA, which ultimately specifies the order in which amino acids are then assembled to make proteins. This process is always going on throughout the body, and it is frightening to realize that copying mistakes are frequent.

Fortunately, the body has a built-in series of superintendents and copy editors in the form of enzymes that look over each copy and correct most of the typos. In Cockayne’s syndrome, one part of the repair crew is on strike and one of the enzymes that normally corrects copying errors in dividing cells (called RNA polymerase II) is defective.

The consequences of this defect are devastating. Affected children will burn after minimal sun exposure. (This child got his first sunburn in a two-hour drive while sitting in an infant car seat and wearing clothes and sunblock on a cloudy day.)

The children usually have poor growth and are mentally retarded. They are prone to dental cavities, and they have joint contractures. But far worse than these symptoms, which also occur in numerous other syndromes, Cockayne’s children also suffer a steady deterioration of their sensory neurons. Their abilities to hear, to see, even to feel or small are progressively lost.

This infant was a prisoner in a failing body, rapidly and constantly losing contact with the outside world. Even Helen Keller could feel and smell.

I waited until I was absolutely certain that he had this syndrome before I discussed it with his parents in a tearful, lengthy office visit. At each subsequent visit, he seemed to be further away and less responsive.

His parents were indefatigable in providing him with as rich a life as possible. They took him to Philadelphia to the one ophthalmologist who would repair his cataracts and fit him with contact lenses.

They stayed by his bedside throughout multiple hospitalizations and operations, including a tracheotomy and the insertion of a feeding tube. They even managed to take him on vacations by driving at night.

A cadre of dedicated nurses from the pediatric intensive care unit at Mount Sinai Hospital in New York turned his parents’ home into a miniature intensive care unit.

He died when he was about 20 months old and his memorial service was my epiphany. I had thought of this child as a prisoner, doomed to progressive isolation from the world with little or no experience of the joy of knowing love or beauty.

With a strength and courage that I cannot understand, the baby’s father spoke at the memorial service. He simply described the ways that his son would express his joy at being placed outdoors in a swing, but only at night, of course.

The baby’s often labored breathing would slow, his features would relax, and he would enter a state of calmness and serenity as he swung back and forth to and from the stars.

Intellectually, I assumed that this baby’s peace came about because his brain could still sense his motion, one of the only sensory pleasures he might have had.

But what I really learned in that tearful moment was that I had seen only the bitter side of his life and not bothered to look for the sweetness.

What the child and his family had suffered was terrible but there had also been great happiness. He had known his own joy and beauty and love, and he had inspired others who took the time to share his world.

What looked like a dull cocoon on the outside, immobile and unresponsive, held and sensitive and beloved butterfly within.

This piece first appeared in The New York Times on April 10, 2001. We have obtained copyright permission for its use.

M. Sena Kapu

 

This story about his daughter who was born with both CS and XP now serves as a memorial to her. Sadly, she passed away on 22 December 2002.

y daughter was born in 1993 with XP and CS. She is still not able to speak, walk, or eat by herself. She was a premature baby and delivery was made by cesarean section. Except for the prematurity, everything was normal with her. But she never has shown a desire to eat or drink anything from the beginning of her life. This was the first problem we recognized, and she still has it. If we don’t feed her, she would never ask to eat or drink. It’s as though she doesn’t have any sense of hunger or thirst. After the XP and CS symptoms, the worst thing for us is when we feed her, because she doesn’t want to eat or drink. We have to force her to eat almost every spoonful of food.

What else would you like to say about her condition?

The first signal that she had XP/CS came when she was five months old. Before that time, she was not exposed to too much light, and we hadn’t seen any problems related to the sun or to UV light. At that time, she was exposed to the sun for one or two hours. When we went back home, after one hour, her face turned red and started swelling up. It was like someone had poured boiling water on it.

Now her body is getting deformations continuously. She was able to stand up with help when she was three years old. But now her feet are twisted toward the inside. They’re so bad that she’s hardly able to crawl now.

What makes her happy?

Even though she isn’t able to speak, she’s very social. She wants other people to talk to her and take care of her. Other children’s interest in her makes her very happy, but as you understand, the general prejudices of adults and other children’s fears don’t give her much of a chance.

We sometimes take her outside with a protective hat. But she can’t stay for more than a couple of minutes, because her eyes start to get irritated, as well as her hands and other parts of her body. After sunset she doesn’t have any problems. With her wheelchair, we take her everywhere at night.

She’s very calm at home. She doesn’t really like any kind of toy, or, her interest in toys is not like that of other children. She does sometimes like to lay with papers and colored pencils, though.

I suppose that indoor swimming pools are the places she enjoys the most. She never complains when we go to the swimming pool.

Updated 11 November 2005

 

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