Outer Rim Territories

TSC diagnosis

When Naomi's diagnosis of Tuberous Sclerosis Complex was confirmed by the neurologist at Riley in Indy, Ethan, Elsie, and I were also diagnosed, although with lesser symptoms. By way of follow-up, we are to have the same battery of tests yearly for early detection of potential tubers in brain, heart, kidneys, and liver, as well as, calcification and lesions in the brain. A month or so ago, I had my MRI and renal ultrasound. Apparently, if I wanted the results, I had to make another visit to my physician (and make another co-pay. Ugh.) The results were pretty straightforward. The MRI showed similar affects of the disease, with lesions, small tubors, and some calcification. The brain specialist confirmed my diagnosis from these scans. The renal ultrasound showed the presence of a small cyst in the liver and five or so in the kidneys. None of these resulted in a diagnosis or need for treatment, often reducing or disappearing over time. From these scans, I have a baseline to track these abnormalities. Like Naomi, we are praying that none of them increase or begin to affect bloodflow or organ function. Naomi will be starting therapy at some point through First Steps. We were tentative to establish a working relationship before call night. Now that we were placed in the state, there is a mostly painless transition to First Steps in NW Indiana. From Guidelines for the assessment of cognitive and behavioural problems in Tuberous Sclerosis:

Tuberous sclerosis (TSC) is a multi-system genetic disorder caused by mutations in the tumour suppressor genes, TSC1 or TSC2 and is characterised by abnormal growths in a wide range of organs including the skin, kidneys and central nervous system. In over two-thirds of cases diagnosis is made when an infant presents with epileptic seizures in the first year of life. In the brain, features include cortical tubers (CT), subependymal nodules (SEN), subependymal giant cell astrocytomas (SEGA) and widespread grey and white matter abnormalities. Intractable epilepsy is a major medical concern to doctors, but less attention is paid to the behavioural and neuropsychiatric problems also associated with TSC such as Autism Spectrum Disorders (ASD) and Attention Deficit hyperactivity Disorder (ADHD) which are often of greater concern to families. It is a worldwide feature that there is often little or no clinical assessment or intervention offered for problems in these areas, in spite of the fact that these can lead to significant difficulties in daily life, and disrupt educational and occupational progress.