Summary of Stella’s condition and surgical treatment

Summary of Stella’s condition and surgical treatment

Stella has tuberous sclerosis, which causes benign tumors to form in her brain, heart, kidneys, lungs and eyes.

So far, she only has tumors in her brain and heart. But, tumors most likely will grow in other organs later. Her heart tumors are shrinking, but her brain tumors remain an issue.

Stella’s disease is a spontaneous mutation of a gene, which occurs in about 2/3 of the people who have this disease.

The tumors are caused by a defective gene.  In Stella’s case, this it is located on chromosome 16 and is called the tuberin gene.

Researchers are now trying to determine what these genes do and how a defect in these genes causes tuberous sclerosis complex. This gene is believed to suppress tumor growth in the body. When either of these genes are defective, tumors are not suppressed and tuberous sclerosis complex results. The gene also plays a role in the early fetal development of the brain and skin.

Stella is having seizures, which is a common symptom of this disease. However, it is not necessarily true that just the tumors are causing the seizures. Other brain matter around the tumors could also be triggering seizures.

According to Stella’s neurosurgeon, the ‘bad’ brain matter can be at the cellular level and, therefore, not detectable by MRI (brain scan).  Therefore, the best way to make sure we get rid of the bad brain matter is to use a combination of MRI and invasive monitoring via electrodes implanted directly on the brain’s surface. 

Surgery plan

The treatment plan for Stella consists of 3 surgeries:

First surgery: Implant electrode strips on the brain. Stella has 5 strips on each side of her brain, placed in areas that previous non-invasive EEG’s showed suspicious electrical activity. Some of these areas happen to be where Stella has a tumor.

The epilepsy team then monitors her for a few days to see if they can determine what areas are setting off the seizures. We are in this phase of treatment right now.

Stella has had 2 days with numerous seizures and we were told this morning that the team has enough information to understand what is happening.

Stella has 2 active areas, with one being “angrier” than the other.  She has a tuber on the left side of her brain, above and to the front of her ear.  That tuber seems to be firing all the time.

The other active area is the big tumor that she has on the right front side of her brain. That sometimes fires by itself, but is often triggered by a seizure starting from the tuber on the left side of her brain.

So this right tumor is also a culprit, but not as naughty as the one on the left side.

There is also an issue with where this tumor is located – it sits on Stella’s motor function, which controls the left side of her body. If this tumor is removed, Stella may need intensive physical therapy to regain control of her left side. The brain is very elastic at Stella’s age and can be taught to take over functions of missing brain tissue.

There are some days when Stella cannot stand without help because her left side is weak. This weakness is caused by the right side of the brain being “exhausted” by seizure activity.  The right side is so busy dealing with a seizure that it can no longer play a normal role, which is controlling motor function on the left side of her body.

Sometimes, Stella suddenly falls down, called a drop seizure. This is caused by a bilateral seizure – that is, a seizure on both sides of her brain. This can happen when both the left tumor and the right tumor fire off at the same time – and this happens often on a daily basis.

We are now awaiting the epilepsy and neurosurgery team to discuss their findings and come up with a surgery plan. We do know that the surgeon does not like to cut brain matter (resect) on both sides of the brain within the same hospital stay because it is very risky.  This means that the surgeon might remove the left side tumor first and that Stella has to come back to the hospital in a few months to remove the other tumor.

We should know more within the next 1-2 days. 

Second surgery: Remove electrode strips and cut out bad brain matter. Then re-implant the strips or grids (grids are smaller and designed to focus on just one area). These are good for making sure that the surgeon removed all the bad brain from one area.

Then the epilepsy team will wait 2 days or so to see if Stella still has seizures coming from the area that was resected. 

Third Surgery: If there are no more seizures starting in that part of the brain, the surgeon will then go in again and remove the strips/grids and close Stella up.  If there are still seizures, the surgeon may go in and cut away some more brain tissue as there probably are still some seizure-causing cells in the area.

She will then stay in hospital for a few days to recover and then a few days in our flat before we travel back to Hong Kong.