My Daughter has Tuberous Sclerosis Complex

My name is Liam Watson and I am a single father to a child with Tuberous Sclerosis Complex. My daughter Michelle is 15 years old, tall, beautiful girl with brown hair who loves attention and Disney movies. She is I the autistic spectrum with a mentality of a 5 year old and is prone to seizures. I have been her only parent since she was 5 years old and her mother lost joint custody of her and with the exception of friends occasionally helping with advice or favors of babysitting, I’m essentially on my own.

Michelle and I, May 2013

            A little background into my daughter’s condition is that according to the Nation Institute of Neurological Disorders and Stroke (NINDS), Tuberous Sclerosis Complex or TSC is multi-system genetic disease that causes tumors to grow on the brain and other vital organs that is caused from the mutation of TSC-1 and TSC-2 genes. This has been known to affect brain function in the Autism Spectrum and more than likely causing a seizure disorder. The first symptoms usually spotted are ash leaf spots on the body and seizures of all types. It can also affect the heart, lungs, kidneys and eyes.

Michelle at 22 months, You can see her ash leaf spots on her arms

            In Michelle’s case, TSC affects her with ash leaf spots all over her skin, Autism Spectrum Disorder and seizures of all types. However when she was born, no one brought up that the ash leaf spots were a sign of TSC. When she was two she began infantile spasms that we thought were hiccups. We had never heard of these types of seizures before and never thought to have them checked out. It wasn’t until she was 3 that she had her first clonic seizure where we first knew something was wrong. Around the same time we began to notice she was falling behind in learning. Her speech began to show signs of problems, syntax issues and pronoun mistakes. We dreaded it being autism but all the signs we were told to look for weren’t showing up. Her first doctor suggested that we read to her constantly and take her to church to give her a sense of community and family structure. Never once did he give any indication of it being autism.

            By age 5, we enrolled her into kindergarten at a local parochial school, where her disruptive behavior caused them to remove her after 1 week. Following that we enrolled her into another private school where she lasted a day. My decision was to hold her out another year while we try to get her behavior under control and see if she needs medical help. After some time her doctor who suggested church finally referred her to a pediatric neurologist. He was the first to mention TSC to us.

            In 2003 there was very little information of TSC and after a series of tests ranging from an MRI to ophthalmology exam on her eyes to a sonogram on her heart and kidneys all showing nothing out of the ordinary, TSC was dismissed as a possible diagnosis. The following year we enrolled her in public school and they gave her a psychological check and tested her for autism. In the end of those exams she was characterized as Other Handicap Indicated because they knew something was wrong but had no idea.  

            Over the next couple of years her seizures began to get worse. She had begun having tonic seizures almost daily along with occasional clonic or drop seizures that began to change our focus to controlling the seizures. Each time the neurologists would bring up TSC but after reviewing the previous tests they would dismiss it again. They now wanted to get the seizures under control before trying to treat Michelle’s learning disabilities which were changing each day as well. She was given Depakote, Oxcarbazepine, Risperdal and finally Phenalbarbatol. It was the final drug that actually began to slow down the seizures including the tonic/clonic or Grand Mal seizures she had begun having.

            In January of last year, while in the school swimming pool, she had a grand mal seizure and went under water. She was pulled out of the water quickly and when checked out at the emergency room, she was ok aside from some water in the lungs. In September she had 4 grand mal seizures in less than two hours prompting another run to the ER, this time we were out of town and the hospital we were at ran another MRI and CT scan where they noticed some calcification in her brain where they once again returned to TSC. She was given a loader of Phenalbarbatol and her regular dose was raised to prevent it from happening again.

Her seizures were still happening but not as often as before until three weeks ago. Her tonic seizures, which would happen in the morning if she had not slept enough or was stressed out, began to happen at rapid intervals. By noon that day I took her into the ER at our local hospital. After several hours there, she was given another loader of Phenalbarbatol and a milligram of Lorazapam and her seizures were under control again. The following day we went to her primary care physician who added Lorazapam to her regiment and put in a referral for a specialist. Five days later she had another seizure attack.

This time I returned her to our local ER where my girlfriend joined us and with her knowledge in medicine from her career as a case manager for hospitals, she was able to talk to the staff and ask the questions I never thought to ask. I learned that our local hospital didn’t have a pediatric wing to admit her to and they intended to send us home as soon as the seizures were under control. This time however, the seizures weren’t controlled with Phenalbarbatol and Lorazapam. My girlfriend was able to convince the attending physician to transfer Michelle to Loma Linda University Medical Center, which was the nearest children’s hospital and she was admitted.

Michelle at Loma Linda University Children's Hospital, May 2013

Over the next 5 days, Michelle was hooked up to an EEG and they began to monitor her seizure activity, which was averaging to over 100 seizures a day and at their worst were happening every 45 seconds. Finally they found the right combination of medicines that have managed to control her seizures and at the same time begun a battery of tests on her heart, brain and abdomen for any other signs of TSC. Her brain shows signs of calcification from previous lesions but her heart and kidneys are clear for now. She was sent home the day before Mothers Day and after a week has not had one seizure that we’ve noticed. We’re watching her closely and if they begin again, I’ll be terrified wondering what will happen next.

As of now our only issue is the side effects from the medicines she’s one. Her Phenalbarbatol dose has been doubled and added to it are Topamaz and Dilantin. The current side effects are loss of appetite and bizarre mood swings which we can deal with rather than the alternative. We are learning to be patient with these changes and at the same time trying to keep her healthy and show her that she isn’t alone.

Michelle's final day in Loma Linda Children's Hospital

Michelle currently attends a special education school and is connected with the Inland Regional Center. On occasion we attend outings with the Inland Empire Autism Society and I’ve only recently been informed of the Tuberous Sclerosis Alliance that I will be looking into for help. What I discover will be added to my blog in future posts. I am writing this blog to help other parents of children with TSC to know what they can possibly expect from their child although the odds of someone contracting both developmental issues and seizure disorders are rare. I’m also writing this for my own personal benefit as I document some of the hurdles we’re jumping through from the medical field of doctors and insurance companies, to the schools and social disability programs. In time I’m hoping there will be more information about TSC that will help Michelle and others like her. Maybe this blog and others like it will raise more awareness than what little I’ve learned about over the years. Time will tell.