At the time of Matthew's one year check up, he could not yet walk or crawl. He could not even pull up to standing along the furniture. His pediatrician offered to begin diagnostics to see what might be wrong, if anything. Little did we know that the problem was visible to us all the while.
We started with some blood tests to see what might turn up there. All the tests they had performed were normal. Next, we had a CAT scan of the brain performed, which he had to be sedated for. It revealed multiple calcified lesions within both periventricles. As well as abnormal "lesion/s" in the right frontal lobe. The MRI, which he also had to be sedated for, was soon to follow to confirm these findings. There were a couple of different possibilities that could tell us what caused those lesions. The most likely and easiest one to treat would have been Toxoplasmosis. Since, it is transmitted in cat feces and I had worked for a Veterinarian throughout my pregnancy, it was the path we would pursue.
Matthew was tested for Toxoplasmosis, but his results were negative. So, I was tested for toxoplasmosis. I think the doctor was hoping Matthew's test was wrong, considering the other alternative was to tell me that my son might have Tuberous Sclerosis. He never mentioned it to me as even a possibility at this point, and I still think it was to spare me the extra worry.
It was likely my test would be positive since I had been working for veterinarians for several years. The chance that I had transmitted Toxo was pretty fair. The question became when did I get the affection? If it was during the pregnancy, we had our culprit. If it was before, there was no way for Matthew to have gotten the infection from me. I would have been producing antibodies and the fetus would have been protected. Just as I suspected it would be, my test was positive.
It was agreed to go ahead and test Matthew again. By this time, Matthew was 14 months old and we were just getting to see the neurologist. This was two months after we discovered the lesions. We had not yet gotten our results from the second test when we were in the Neurologist’s office. Even that doctor was convinced that we were looking at a case of Toxoplasmosis. We were being told that it was an active infection and we would have to see the Infectious Disease Doctor, but this was treatable and it would be over with. Then she got the results in from our pediatrician's office. Matthew's second test was negative. This eliminates Toxoplasmosis as a possibility.
Based on the questions she asked, I realize now that she suspected it was Tuberous Sclerosis. First, she asked about family history of seizures. There were none that I knew of...at the time! Second, she asked about family history of tumors, cancers etc. My Mom’s family had been genetically tested for the glomus tumors that were found in many of my aunts and uncles. My Mom did not have the gene. Therefore, she could not have passed it to me or my brothers. Finally, she asked about any unusual markings on Matthew…birthmarks or moles or anything like that. I pointed out to her, the large mole he had on his forearm and the even larger cafait-au-lait mark next to it. Then, I showed her the multiple white spots on his skin (one on the inner right thigh, three on the back and butt). This was when it was finally suggested that he could have Tuberous Sclerosis. I don’t know why, but I didn't ask questions. I just listened to her explain that we would need to see a genetacist, and an ultrsound of the kidneys would be necessary. The ultrasound was done that afternoon. Everything was normal.
The first thing I did when I got home was look this mystery up on the web. I was in complete shock at what I was reading. 60-90% of the patients have a seizure disorder. Many do have behavior problems. The things I was reading about were on the Tuberous Sclerosis Alliance website.
"…aggression, sudden rage, hyperactivity, attention defecit, acting out, obsessive-compulsive behavior, repetative behaviors, staying in their own world, being non verbal at an age when most children are speaking, and other autistic behaviors have all occurred in children with TS."
There were also some mental disabilities mentioned. Then of course the tumors that affect the many systems of the body….the heart, kidneys, brain, eyes and even the lungs. The site also indicated that those "white marks" on Matthew's skin were called ash leaf spots. They were patches of hypopigmented skin, or skin lacking in pigmentation. These marks that I have stared at for so long and questioned before....were the answer to what was causing Matthew's delays.
I was still horrifired over what I had read! Here I was reading what basically told me that my child was always going to have some mental delays and behavior problems as well as have seizures. I cannot even begin to explain the shock I was in. I was determined to hear more about specific cases. Were they all affected by these things or just some. I found personal websites about some families who’s children went through uncontroallable seizrues lasting up to 30 minutes. "My God!" I thought to myself. This is awful. Is this what we have to face?
Then I found Ethan's Page. From what I was reading, Ethan's story was similar to Matthew’s as far as developmental delays. The only difference I could see was that Ethan had the infantile spasms. Matthew to this point had never had a seizures, at least never had a confirmed seizure. There were a couple of occasions where I suspected seizures. I don't really know why or how, but Ethan’s story gave me hope again. I contacted his family through the address listed on the site. I thanked them for sharing their son’s story, because I suddenly didn't feel so hopeless about Matthew's case.
Just a few days before our scheduled appointment with the genetacist, Matthew had a seizure. This time, with all the reading I had done, I knew exactly what was going on and how to handle it. I made all the mental notes about what he was doing before, during and after the episode and I wrote down those findings on paper. You really would be amazed what you can't seem to remember an hour after something so disturbing has occurred. I was mentally thinking of Ethan’s Page throughout the seizure too. I felt I finally had the confidence to believe what I was seeing and make someone else believe it too! We went into the doctor’s office for an evaluation and an EEG was done the next day. Again, he had to be sedated. I keep mentioning the sedation because I am realizing at this point what his future will be. Test after test after test, and that for some time he will need to be sedated for all of them.
We went on to see the gentacist and he explained all that I had read on the internet. They took down the family history to determine if the case was inherited or a sporadic mutation. Since, two-thirds of the cases are sporadic mutations and there was no history of TSC in either family, it was determined that our chances of having another child with it was the same as the rest of the nation. I think the number he gave me was 2%. This was the only thing I had not read on the web. What were my chances of having another child with this disorder? I was just so well prepared for him to give me all the gutt wrenching details of the disorder. It didn’t phase me one bit to hear what he was telling me. I think even he was shocked that I had no reaction.
Our next diagnostic was to be the echocardiogram(ECG), or ultrasound of the heart. It revealed two suspected tumors in the ventricles of the heart. We would have an MRI to confirm this of course. Again he was sedated. However, they were unable to get useful films. It was so frustrating to think I had put him through that for nothing. Soon, we saw the cardiologist and she performed the ECG in her office herself, which you guessed it, he had to be sedated for. She was pointing the tumors out to me and I could not believe my eyes.
This was apparently the final puzzle piece. These tumors in the heart combined with the lesions in the brain and the ash leaf spots on his skin, gave us our final diagnosis.
Today is July 31, 2001. This week we are going to Tulane University located in New Orleans for DNA testing to be done in Houston. We hope they will be able to locate where the mutation occurred in Matthew. Once they find it in him, they will know where to look on my DNA. Additional information from my family could indicate that I am potentially a silent carrier.
On August 27, 2001, we found out that Matthew has a tumor on each retina. Aside from that he will need glasses for an astigmatism. We will have to go back in about 6 months for a follow -up.