Tuberous Sclerosis with Infantile Spasms

Tuberous Sclerosis with Infantile Spasms. This is a diagnosis that as of 1 month ago not one single person in our family had ever heard of. Unfortunately this has become part of our everyday vocabulary. Our beautiful, sweet baby girl Anna has been diagnosed with this and consequently our lives have been turned upside down, inside out to put it mildly.

A few weeks ago, just two days prior to the movers coming to pack our home in Houston, as I was feeding Anna in her highchair she rolled her eyes back into her head and did a very slight head bob. The head bob was like any adult might do if they were falling asleep watching TV. She immediately picked her head up but it happened again 3 or 4 times. I called Jay over to see her because I immediately thought it was strange. We knew she was tired though and decided she needed a nap. She slept for 3.5 hours so we chalked it up to being tired. The next day came and she did it again. There were about 7 or 8 times in a row where she would roll her eyes into her head and then her chin would fall down. I began to suspect that something just wasn't quite right. I called our pediatrician and got an appointment for the following day which happened to be the day that the movers were packing all of our home goods onto the trailer. Anna started to have the episode right in the pediatricians office (what are the chances of this happening?!?) so I quickly ran out and grabbed the doctor who was with another patient and made her come to witness what Anna was doing. Our pediatrician wanted Anna to have an EEG (a test that measures the brain waves and often tells if the person is having seizures or not) but didn't feel like it was something that was urgent enough to have to be done before our move to Virginia. This happened to be a Tuesday and our flight home to Michigan was on Thursday. (We intended on flying to MI for about a week in between our move from Texas to Virginia. It was taking the movers 10 days to deliver our goods so we thought it would be nice to spend the time with family instead of driving across the country. It also happened to be Easter weekend so we though it would be nice to be with family.) She told me to schedule the EEG in Virginia once we got settled in. The very next morning I received a call from the doctors office that they found an open spot for an EEG in the medical center of Houston. The movers had already loaded our cars and we didn't have any way to get to the appointment. We REALLY wanted to get the EEG done ASAP as we were starting to really worry about what was happening (her episodes were happening on average once per day.) We were about to call Enterprise to rent a car when our good friends and neighbors totally changed their schedule so that we could use their car. (Thank you so much Brian and Jamie!!!) We got the EEG done on Wednesday, flew home to Michigan on Thursday, and I called the doctor on Friday afternoon to see if they had gotten the results to find that the office closed early for Good Friday.

We thought we would have to wait until Monday to hear the results when my pediatrician called about 5pm on Friday. She told me in no uncertain terms that the EEG was extremely abnormal, that she had consulted with 2 different neurologists and that we needed to take Anna to the nearest children's hospital NOW. She was adament that we not even bother with any hospital except a children's hospital. This phone call is a mothers worst nightmare come true. I was in utter shock and panic. I knew something could be wrong with Anna, but I never imagined it would be so serious that I would have to pack up and leave immediately. Needless to say we packed our bags and were out the door in less than 15 minutes to go to University of Michigan Mott's Childrens Hospital. It is about a 2 hour drive from where we were and the best children's hospital in the state. She even called the hospital ahead of us and told them to expect us and that she wanted us to be admitted for further evaluation and gave the results of the EEG to the on call ER doctor.

The next 5 days were spent in the hospital on a roller coaster ride. Anna was poked and prodded a million times. By the time we left she had an MRI for which she had to be completely sedated and intubated, EKG, continuous 24 hour EEG, renal ultrasound, echocardiogram under sedation, opthamology exam, multiple blood draws, IV's, and the list goes on. The 24 hour EEG of which was under continous video camera monitoring was awful because she was on it from Sat early morning until Monday and because the leads from her head were hooked to a machine she was "stuck" in a 5 foot radius in the room. We couldn't walk around with her or barely move with her. She was miserable. Although she was admitted on a Friday night we couldn't get the MRI done until Monday afternoon, which was the diagnostic tool that was the most needed. Jay and I were on pins and needles all day Monday and overnight as we knew our neurologist would have the results for us first thing Tuesday morning. At this point we already knew what we were hoping for - that Anna was having infantile spasms (a form of seizures) without any cause. We were hoping and praying that the MRI didn't give us any reason or cause for the seizures. If it did - her outcomes were potentially much worse.

I knew the second that the neurologist walked in that we were getting the worst news imaginable. She said immediately that Anna has Tuberous Sclerosis. I don't remember any of the rest of the conversation. I just remember at that very moment that my heart broke. It didn't just break into a few pieces. It was completely shattered into billions of pieces that would never be able to fit back together again. The mothers worst nightmare of a terrible phone call saying that you needed to take your 7 month old baby to the hospital was nothing compared to the neurologist telling you that your own piece of human flesh has a terrible rare genetic disease. One that has caused her to have at least 20 benign tumors called tubers in her brain. And that she may also have these growths in her kidneys, heart, eyes, and lungs. The tubers may cause her to have complete mental retardation, autism, learning disabilities, or in the lucky few, lead a normal life. One of the first things that popped into my mind after receiving the news was how many times I had said to my family and friends "We are just so lucky to have 2 healthy, beautiful little girls." Wow. This was no longer true. I don't have 2 healthy girls. This is a thought that I still have a really hard time grasping and fear it will be a long time before I do.

At this point I should give a brief overview of Anna's manifestations of Tuberous Sclerosis (TS). She has about 20 tubers in her brain, tests reveal none in her heart or eyes, and she has one small cyst in each kidney less than a cm in diameter. In a nutshell, the medical community knows very little about this disease. Some people live normal lives while others are completely mentally retarded. The number of tubers in the brain does not correlate at all to outcomes. Those with a lot of tubers could be completely normal while those with just one could have severe autism. The disease can be associated with motor delays (such as difficulty crawling, walking, etc) but is more known for cognitive delays. Some people with TS have the infantile spasms and some don't. In general, there are worse outcomes for those that do have the spasms which is why the #1 main goal is to stop the seizures. To this point Anna has met all milestones and from the outside looks like a normal 8 month old baby, which is why it is still so hard to believe that she isn't healthy. Her bloodwork has been sent to a lab for a DNA test to determine exactly which gene is affected. After the results come back Jay and I will also be tested, although in 2/3 of patients the genetic mutation happens spontaneously during formation meaning that most likely Anna didn't get it from Jay or I.

We were discharged from the hospital on a Wednesday and by Friday her medicine had been overnighted to us to begin. Anna is taking Sabril in hopes to completely stop her seizures. It is such a rare drug and given only under the most strict guidelines that it cannot be carried by normal pharmacies. In infants who have infantile spasms the main goal is to stop the seizures ASAP. Research shows that the quicker the seizures stop, the better possible outcomes for the patient. Anna has remained completely seizure free since starting the medicine and she has had one follow up EEG since leaving the hospital which was completely normal. (That was our one piece of great news prior to leaving MI to move to VA. The neurologist was even shocked to see that Anna's EEG was completely normalized.)

Since our move to VA Anna has been seen by the lead physician of a specialized Tuberous Sclerosis Clinic. There are about 20 of these clinics nationwide and we luckily live only 30 minutes from one and pray that it will assist in getting Anna the best possible care. The neurologist, Dr. McClintock, is a very nice man who spent an entire hour with us. He answered (or should I say couldn't answer because the medical community just doesn't know that much about this disease and definitely can't give us any kind of prognosis) pages of questions and outlined our treatment plan for Anna. First and foremost we need to make sure she stays seizure free. He warned us that seizures can return on the current medicine Anna is taking and if this happens we may need to increase her dosage. She is on the lowest possible dose which is a good thing because the main side effect of Sabril is peripheral vision loss.

Because of this possible vision loss she has to be seen by an opthamologist every 3 months. We have already met him and outlined our treatment program to monitor Anna's vision. She will need to be completely sedated after one year of age to perform an ERG and OCT - two tests that basically look at the anatomy and function of the retina and measure the dimensions of the optic nerve. If the nerve degenerates more than a certain amount then Anna is at risk for peripheral vision loss.

We have an appointment in another week with a developmental specialist to make sure Anna is on track both developmentally (meeting motor milestones such as crawling and walking on time) and cognitively. We also have another appointment for an EEG to make sure her brain waves remain normalized. All we can say is thank goodness for health insurance!!

In the midst of all of this we have moved, Emma turned 3, and Jay has had a birthday. Our lives have been chaotic to say the least. Jay and I both agree that in some strange way timing was the best that it could have been with Anna's diagnosis. We just "happened" to be in Michigan where we had the support of all of our family. They were there to watch Emma while we were at the hospital for 5 days and to help us try to make sense of everything.

As we struggle to accept the fact that Anna has this terrible disease please keep praying for her. The hardest part for us is the fact that this is a forever thing. Tuberous Sclerosis will forever be a part of our lives. It isn't going away because we have left the hospital. Long after the worst days of getting the initial diagnosis are over we will still be attending Anna's doctors appointments and learning about the disease and striving to get the best possible outcomes for her.

And we wait. We won't know how Tuberous Sclerosis will attack Anna. We don't know if she will have autism, learning disabilities, or lead a normal life. We have a lot of waiting to do until we find this out and those days are hard. Not a minute goes by that I don't think about Anna's future and what it may hold. I wonder how it will affect Emma? Will Emma and Anna ever be the best friends I had hoped and share all of their secrets? My questions are never-ending. Although I know I may be a bit emotional at time, I hope that documenting and writing about Anna's treatment on this blog will help me to cope with her diagnosis. Not only to cope with her diagnosis but to cope with the waiting and the unknowns.

A good friend told me in the midst of all of this that "We love her just the way she is." That is the one statement that I keep coming back to. We do. We love her just the way she is. It doesn't matter what the future holds for her - although we want her to lead a normal life - but if she doesn't, we love her just the same. And we always will.

Here is one sad picture of Anna in the hospital attached to the EEG leads that had her basically tied to the crib. I will do my best to update the blog with all of our other pictures as soon as I can. I have a ton of birthday pictures for Emma (it was a never ending 3rd birthday celebration!) It took over 2 weeks to get cable and internet in our new home so I am really behind!