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Tuberous Sclerosis

Tuberous Sclerosis Poster Child
Matthew Carlos

Introduction

Tuberous sclerosis (TSC) is a rare genetic disorder that is characterized by benign tumors in vital organs such as the brain, eyes, kidneys, heart and skin. The name, tuberous sclerosis, comes from tuber-like growths in the brain which calcify with age and become hard, or sclerotic. The condition develops before birth, occurs in both males and females, and is seen in all races and ethnic groups. There are 25,000 to 40,000 individuals in the United States with TSC and approximately 1,000,000 worldwide. TSC has an occurrence rate of 1 out of 5,800 live births, although it is believed that there are many undiagnosed cases.

TSC is caused by two different defective genes; a defective gene on chromosome 9q34 called TSC1 and a defective gene on chromosome 16p13 called TSC2. Only one of these two genes needs to be affected for the individual to have TSC. One-third of the cases of TSC are hereditary and are autosomal dominant, meaning that only one parent needs to have the defective gene to pass it on to the child. In this case, each child has a 50% chance of inheriting TSC. The other two-thirds are the result of a spontaneous (or new) mutation.

A case of TSC was first described by Von Recklinghausen in 1862. In 1880, Bourneville gave a complete description and name to the disorder.

 

Features and Characteristics

The following symptoms have been found in individuals with TSC:

 

Diagnosis

Genetic testing for TSC is currently in the research phase. The following tests are recommended if TSC is suspected:

 

Treatment

There is no cure for TSC, however, there are treatments that are used to relieve some of the symptoms. For example, tumors can be removed with surgery, dermabrasion and laser removal techniques can be used for the skin manifestations, anticonvulsant medication can be used to manage seizures, and for those who do not respond to seizure medication, the affected portion of the brain causing seizures can often be removed without compromising the individual’s intelligence.

 

What to Expect

The effects of TSC range from mild to severe. Many individuals with TSC will have mild symptoms and live long productive lives. Others will be more severely affected and can have damage to the kidneys, lungs, heart, or other affected organs.

In terms of cognitive abilities, one-half to two-thirds of individuals with TSC have intellectual impairments ranging from mild learning disabilities to severe mental retardation. The majority of individuals with TSC who have an intellectual impairment have had seizures at some point early in life. The other one-third to one-half of individuals with TSC have no intellectual impairment whatsoever.

Some children with TSC who are mildly mentally impaired will be able to be mainstreamed in their schools, and will develop both mental and motor skills equal to their peers. Others will attain a certain mental and/or motor skill level and then not progress beyond that point. Some children may even have a regression of skills due to the growth of brain tumors, anticonvulsant medications, or uncontrolled seizures. Fortunately, regression may be temporary if the child is successfully treated.

It is extremely difficult to predict how a child will develop, but it is important that the child with TSC receive an appropriate education and related services to assist the child in reaching his or her fullest potential.

 

Personal Stories

This is a brief summary describing the disorder, tuberous sclerosis, that has taken over my son’s life and ours, his parents. Matthew was diagnosed at the age of 11 months as a result of dermatological manifestations. His symptoms are seizures, cortical tubers, SENs, rhabdomyomas, hypopigmented macules, and speech delays. Matthew lives in Southern California with me (his mom, Jo-Ann) and his father, Ken.

Matthew's TSC diagnosis is something I could never forget. He was born, C-section, on March 29th, 1995, after a 36 hour labor. Matthew was a big baby at 9 pounds and 1 oz. and 22 inches long, yet the doctors took him to the NICU. They said they thought he had some type of blood infection. They suspected a problem at that time, but weren't sure what it was. Four days later I took him home and things went pretty well. He was a good and quiet baby and things were fairly uneventful, for a while. He was about 3 months old when I noticed a big white circular patch on his ankle. I didn't think too much about it because everyone told me that it was a birthmark. So, a month went by. Then I noticed another long ash leaf shaped spot on his chest, and I figured I should find out what this was. I took him to see a doctor, who told me that it was probably vitaligo. He gave us some ointment and sent us on our way.

Another month went by until I figured I would ask Matthew's pediatrician; she gave us a referral to see a dermatologist. We (my mother and I) took Matthew to see the dermatologist to see what these spots were that now seemed to be all over portions of his body. The doctor used a Wood’s lamp to test Matthew and saw even more spots than we could see with the naked eye. He turned to us and said he wanted to look in a book to make sure what it is. He left the room and didn't come back for what seemed like an eternity. Fifteen minutes went by and he came in with a group of doctors asking if they could look at Matthew. They all looked. I felt as if my kid was a freak and they all had to have a peek. After they all left, fifteen more minutes passed until the doctor came in with this book and showed me what he thought Matthew had. I told him he was crazy to suspect that it was a genetic disorder called tuberous sclerosis. "I know my child isn't having seizures," I told him.

The first chance I got, I went to the library to find out more about this "tuberous sclerosis." The more I read, the more it made sense. I thought seizures were all shaking, grand mal episodes and very obvious. I had no clue about the different types of seizures, or that they might be difficult to detect. So I went to our pediatrician to consult with her. She thought that perhaps this was some fluke as well because Matthew was developing so beautifully. Several months went by and Matthew began having these little staring spells. I figured he was just daydreaming or something. But the more I read on seizures, the more concerned I became. So the pediatrician gave us a referral to have an EEG done.

That day they sedated Matthew and we watched as they tested him for a half hour or so. We waited impatiently to get the results back. When they did come back, they showed no abnormal activity. I thought I would be happy to hear this, but I wasn't. I felt like something was still amiss. I told my pediatrician that I wanted to investigate these spells further, so we got another referral to a neurologist. My mother and I went to this appointment because my fiance was working. We told the doctor about Matthew's spells, still expecting that everything would be okay. The neurologist listened to us and asked to see the spots. She looked at them for less then 3 seconds and said, "Yes, this is what he has - tuberous sclerosis." I didn't know what to say. I looked at my mom and just didn't know how to react. The doctor then proceeded to say that we had to admit Matthew to the hospital and run some tests. They wanted to do some blood tests, a 24 hour EEG, a kidney ultrasound, a brain scan, a liver ultrasound, and a heart ultrasound. I just stood there and listened and called my fiancé to tell him what was going on. Then, I sat there and cried.

When we got Matthew to his hospital room, they wrapped his head up as if he had been in a car accident, hooked up all sorts of wires to his head, and attached a monitor to the side of his crib with cameras all around so they could observe him. While he was asleep, the technician came in to take a look at his heart via echocardiogram. She rubbed goo all over him and then clicked on the machine. I asked what exactly they were looking for and she told me they just look for anything that doesn't belong. I saw a few questionable black marks on the screen and asked if those were supposed to be there; she told me that she could not discuss his case and I would have to talk to the doctor. I looked at her and pleaded with her to tell me. She again said she couldn't discuss it with me but then whispered, "No, they aren't." I lost it. I cried and cried. The cardiologist came in to talk to me about 3 hours later and said that Matthew had eight tumors in his heart - none that he could see were blocking anything or causing any problems. Eight tumors; those were two VERY sobering words.

Next came the brain scan. The neurologist told us that the CT-scan revealed several tubers in his brain. She could only see four that were of good size. Next they did an MRI, for its better resolution, to get a better look and the radiologist reported finding hundreds of tubers. All I could do was cry. My poor baby looked so healthy - why was this happening to us? What did we do to deserve this?

The next day, the results of the 24 hour EEG showed that he was indeed having seizures and would need to go on medication. It all seemed to hit me at that moment like an enormous wave. This was it - nothing else I could do. My only option was to read everything I could get my hands on because I had never heard of this disorder and many of the doctors didn't seem to know much more than I did. They first started Matthew on phenobarbital, which actually seemed to make him worse, so he went off of that within two weeks. Then came Tegretol, which worked pretty well, but didn't give us total seizure control. At one point, Matthew got really sick and ended up in the hospital with the stomach flu. He was so ill, he couldn't take his Tegretol (it was the chewable brand and he couldn't keep it down). So they gave him Dilantin. This drug was like a miracle. Right away, he seemed to be acting so much brighter, more alert. Unfortunately, three weeks later he was covered from head to toe with what looked like the chicken pox. Come to find out, he was allergic to Dilantin. So, he went back on Tegretol. We've also tried to add-on Neurontin and Lamictal along the way, but still never achieved one hundred percent seizure control.

Matthew was diagnosed in February of ‘96. Since then, we have been on a mission to learn everything we can about this disorder. Along the way, we learned that Regional Center was a great resource to help him with his developmental skills. We initially went through the "Mommy and Me" program two months after his diagnosis. We remained in that program for 4 months, but Matthew had a tough time; he tended to fade quickly because he was always so tired from his medication. His Regional Center case-worker and I worked together to find another resource, as Matthew was definitely starting to lag behind. For several months, we tried an in-home program where the therapist comes to your house every week and works with the child. It was certainly convenient, but the therapist's style was a little heavy-handed for our taste. Matthew resisted being confined to a chair for a long period of time, and didn't seem to get much out of this program either. Finally, we found a program that was perfect for Matthew. The teacher/therapist was the best thing that happened to him in quite awhile. She had a real knack for relating learning to playing and tried hard to incorporate Matthew's favorite things into the lessons. He was working and learning as he was playing, but he never even realized it! We continued with her until Matthew was 3 and a half years old. Matthew currently is scheduled for his first IEP appointment soon. We aren't sure how it's going to go but we are hopeful that we will get lucky with another good program.

Matthew has been in and out of the hospital several times, but he has received very good care, for the most part. He is still taking Tegretol and is down to maybe 3 seizures a month, which is good progress. He is also taking Depakote now because the Topomax he was on was affecting his behavior and we felt it was better to try something else.

Matthew is really a great kid who just loves to eat! He also loves to play chase and interacts more with us and with the world around him everyday - also good progress. He doesn't have any language skills at the moment but we are waiting patiently. The gap between his actual age and mental age seems to be narrowing, which we are thankful for. He is very strong and I know he will fight for his own health as much as we fight for him.

Note: Since the above was written, Matthew has started school, which he attends every now and then. It's hard for him to go because of the medication he takes in the morning. The doctors have also found cysts on his kidneys; three on each side to be exact, which aren’t affecting him, thank goodness. Also, he is much more active. He plays so well with his dog, Buffy, and is learning more each day. He still doesn’t talk, but we hope and pray each day that he will. I hope this has been informative for you and that you understand more of what we go through (each and every one of us) each day. - Jo-Ann Carlos

Jasmine and Desiree are ages ten and a half and nine and a half years old, respectively. My husband, Dennis, is 39. We all have our sad stories about our personal hardships and stories of how we overcame those personal obstacles, and I assure you that ours is no different from a million others. I am taking a different approach to the subject of TSC and our daughters.

Desiree is our youngest daughter, and began having seizures at age one and a half years old. Diagnosed as epileptic, she began taking medications which eventually lead to seizure control. It wasn't until she was three and a half years old that she was diagnosed with TSC - when her sister began having seizures.

Jasmine did not start having seizures until she was four and a half years old. It was at that time, the tuberous sclerosis was diagnosed, but only because the neurologist that was treating her was the same one who treated my husband as a child. (He actually remembered my husband's name and hometown, which is how he thought to look for the TSC.)

Dennis was diagnosed with epilepsy and TSC at the age of 9 months. He had grand mal seizures. According to his mother, Dennis’ organs were never checked. She did not know to ask about it, and back then, you never questioned a doctor. Dennis stopped having seizures in the early part of 1985, about two months after we began dating. He got off his medications later that year.

Unfortunately, two months ago, he had a seizure like I had never witnessed. He was physically drained for more than two days and got a bad cut on his eyelid. After seeing his family doctor, Dennis is back on one medication (so far, so good!). We have no idea what brought on the seizure, but it is a great source of concern for me. Questions that are going through my mind are: "What really caused it? Does it have anything to do with tuberous sclerosis? Why now, after 14 years?" These are concerns that I will keep to myself and not burden Dennis with. I don't think anyone can answer those questions. Part of me wants him to see a neurologist and see if he has TSC, and if he does, exactly where. Part of me believes that ignorance is bliss.

I have discovered that with TSC, there are no rules for this disease to follow. Although there are general guidelines, from what I read and hear, everybody has a variation of its side-effects, except epilepsy. Treating a disease that is as fleeting as TSC is obviously next to impossible. Add to that the fact that it is a rare disease, and research money is hard to come by and you have yourself one very frustrating situation.

I do not totally blame doctors or the medical field, but the problems lie with the lack of knowledge - having some facts that answers cannot come from. Look: They know that TSC is in the brain. They know that it causes behavioral disorders. Where is the cure or treatment? Treatment varies from child to child and person to person. Why can't the tubers simply be removed in order to remove the problem? Brain surgery would be tricky, but in this day of scientific break-throughs, you would think we could do something for these people. Why not? How about a medication that could kill the tubers or paralyze them? It's easy for me to ask these questions since I know nothing about the brain, tuberous sclerosis, and how it truly affects the organs.

Life for us consists of tending to two daughters with special needs. Jasmine, who has TSC in her brain and the ash leaf and shagreen patch skin lesions, has the behavioral disorders associated with TSC in the brain. Her seizure classifications change every now and then, so seizures are never totally under control for too long. The behaviors are something that leave us wondering if Jasmine will ever have a somewhat normal life as an adult.

Jasmine has ADD as well as bouts of sudden aggression, where she will physically hurt one of her siblings or friends. Little or no provocation is needed for Jasmine to physically attack a sibling. What bothers me about that, and some of her other behaviors, is that when you look in her eyes, there are times you just KNOW that she is unaware of what she did or is doing. How can a parent, in good conscience, punish a child for something they have no control over? How do you stop the behaviors?

At age 5 years, we were able to teach Jasmine the ten commandments and seven sacraments in a few days (and today, she still remembers them!), so how could her learning abilities slowly disappear? At age 6 years, she was reading above her age group in school, but now reads no better than an average six year old. Why?

Desiree is a much milder case. When Desiree was tested for TSC, we learned she has the ash leaf skin lesions, has a small spot of TSC in her brain, as well as a small spot of TSC in one of her kidneys. Desiree is also mildly retarded, a fact that took me nearly three years to accept. With the kidneys, they say it is rare to have any real problems until the second or third decade of life. It's also reported that with dialysis and/or transplants, people with TSC in the kidneys can live a normal life span. The only reason I don't have a nervous breakdown thinking about Desiree and her kidneys is because we pray that advances in research are made in that area and Desiree will not have to deal with those choices. Also, the fact that it is one very small spot gives us the hope that maybe the spot will never grow. And, if worse comes to worse, you can live with one kidney.

Dennis and I have a younger son, age eight and a half years old. His name is Nicholas and he has been spared from TSC. He is truly a modern hero to me. It is tough enough to have a "special" sibling, but he has two of them. Special children need more physical attention than others, and any other normal child would probably be resentful by now. Somehow, God made Nicholas special in a different way. Nicholas is his sisters' unsung hero. He watches out for them and tolerates their tantrums. When Jasmine was experiencing complex partial seizures and would run around during the seizures, Nicholas would not just simply call for us to get her, but he would do his best at helping Jasmine until we got to her. One seizure found Jasmine running out our front door and hanging over the railing. Nicholas called for us as he followed her out. When we got to Jasmine, she was hanging on the outside of the railing with Nicholas hanging onto her shirt. Our porch has a five foot drop to a cement sidewalk, and while that would not have killed her, it surely would have caused some serious injuries.

When neighborhood kids would be talking about Nicholas's "crazy" sister and the "retard" sister, Nicholas would tell them that they just don't understand what's wrong with them and would walk away. He never got nasty with the kids, but he wouldn't play with them again until they stopped talking about his sisters. For an eight year old kid, he's pretty darned smart. On top of my love, Nicholas has my undying admiration. The love and concern he displays for his sisters is uncomparable.

Dealing with TSC is not simply about the child or the person, but all those involved in that person's life. Jasmine and Desiree have parents who will fight and question and search for answers and a brother who loves them more than they will ever be able to understand. Jasmine and Desiree's grandmother is very active in their lives and accompanies us to most doctor appointments. She is very sympathetic and helps out as much as possible. She will take the little ones overnight on occasion in order for Dennis and I to have a break from them.

Tuberous sclerosis is a rare disease and the people who deal with it are just as rare. They have a special love and a quest that never seems to end. We may hit road blocks in the treatment of TSC, but we keep at it until we either find a way through it or around it. We are concerned only about the amount of time we spend at each blockage. After all, we're talking about our children. - Terri Blum

Taylor is our only child and we were filled with such happiness the day she came into our world. When she was 16 months old, that world came crashing in with the sound of two words: tuberous sclerosis; words we had never heard of, yet would change the course of our daughter's life.

Taylor started having "staring" seizures at 13 months old and a later EEG and MRI confirmed the diagnosis. In January, her seizures became more involved and she would collapse and slightly shake. The MRI showed many benign tumors in her brain. She also has skin manifestations, which are little white spots on the skin. Later, they found three small tumors in her heart. When our pediatrician called us in to give us the news, we were struck with shock and confusion. How could our healthy, seemingly normal child have all these tumors in her body? Our hearts were crushed. At that time, all our hopes and dreams for the future were uncertain and put on hold. We didn't know what came with this disease nor how it would affect our baby later. However, we immediately began to educate ourselves and find the best care for our daughter. Some of the information was hard to swallow and the unpredictability of TSC was terrifying. We have become advocates for Taylor and for TSC; telling all our friends, families, and even strangers about the disease. They have a personal link to TSC through us and have become involved in the cause through prayer and support. We have received such love and encouragement from everyone around us and have been blessed with gifted doctors and caring nurses.

We went through many nights of tears and praying since we heard of tuberous sclerosis. Having to watch Taylor go through many tests, some even painful, has given us a new focus on life. We really appreciate the moments we have with her and hug and kiss her a lot. We want her to know that even though she goes through these tests, that they are for her good and that we will be there to hold her when they are over.

One of the most difficult challenges we have faced with TSC is the decision of whether to have more children or not. We have always dreamed of another child, but we want to be responsible and do what is best for our family. Although my husband and I show no signs of the disease, we understand that there is no guarantee with such an "unknown" disease. We are very torn at this point and look for the day when there will be a cure for tuberous sclerosis.

Taylor just turned two years old and is doing very well. She has been seizure free since March 1999. She is developing rapidly and we are encouraged by this. She is having some occasional mild motor problems with her left arm and hand because of a tumor on the right front of her brain. We have also recently discovered that she has two small brain tumors that are near the openings of the ventricles. If these grow, they will have to take them out, meaning major brain surgery. This is our ultimate fear and we pray that they will disappear altogether. Although there are times of worry and uncertainty, I hang on these days that Taylor is fighting the symptoms of TSC and winning. - Amber Rhoads

Curtis is the 2nd of 3 children. His mom also has TSC and his brothers lucked out and don't. His mom and I noticed white patches on him at 4 ˝ months and took him to the doctor. He was diagnosed with TSC at that time. He grew normally and was learning all the normal goals at the appropriate ages. Then, at around 1 ˝ years of age, he ran to me in the kitchen while I was on the phone and had a very different look on his face.

All of a sudden, he starting falling backward and then he would catch his balance for a second and then fall back again. Well, we ran him up to the doctor’s office again and they did more tests and found that he was having seizures. Then came the start of trying to find the right medicine for him. I believe he started with Tegretol, then Depakote, next came Depakote sprinkles, then Dilantin - none of which worked and his seizures were getting much longer in length and more frequent.

So, we tried the neurologist’s suggestion of Lamictal and within a week, he had a rash from head to toe, so that put a stop to that. Next stop was in Children’s Hospital in Detroit, where he had several more tests and was given an option of surgery if this one last medicine didn't work; thank God it did! So, thanks to Vigabatrine, he has been seizure-free for a couple of years now.

Curtis is still mentally challenged and mildly autistic, but at least the seizures have stopped and I pray they never return. - Roger Whaley

 

Resources

If you are interested in meeting other parents and individuals who are involved in raising a child with TSC, the following listserv is available:

TSC e-mail discussion group - To subscribe, send an e-mail message to majordomo@aura.title14.com and in the body of the e-mail, type "subscribe tsctalk" (without the quotes). You will then receive a confirmation and list of guidelines.

For more information on tuberous sclerosis, please see the following helpful references:

 

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