Dominic's Story

The story of a little boy and his journey with Catastrophic Epilepsy

Dominic was born September 29, 2010, a perfectly healthy 7 1/2 pound baby boy. Dominic was a very typical baby - fussy, had his days and nights mixed up, but overall a happy little baby. The day before Thanksgiving we were in Naperville and he had what I thought was a seizure. Over the next few days he continued to have more and more. When we got home Saturday, we called the Pediatrician and after taking one look at him, sent us straight to Helen DeVos Children's Hospital in downtown GR. He was having several complex partial seizures.

His fist couple days in the hospital he had an CT Scan, MRI Lumbar Puncture (spinal tap), blood work and a 36 hour EEG in hopes of finding what was causing the the seizures. Based on his EEG they saw that besides the complex partial seizures he was also having numerous clusters of spasms. He was put on phenobarbital and a slew of other meds before they finally diagnosed him with Complex Partial epilepsy and the catastrophic seizure disorder called Infantile Spasms.

While Infantile Spasms doesn't sound all that bad, it is actually a rare form of epilepsy that affects only 4 out of every 10,000 births. It's considered "catastrophic" because it is very difficult to treat and has a pretty poor prognosis. Most children with infantile spasms are mentally retarded later in life. Those whose spasms are related to an underlying developmental brain disorder or injury have a higher likelihood of moderate to severe retardation. The outlook is brighter for those who were developing normally before the spasms started: 10 to 20% will have normal mental function and some others may be only mildly impaired. Some children with infantile spasms develop autism. Many doctors believe that the quicker the seizures are controlled, the better the results will be. There are two categories of IS - Etiologic, which means an underlying cause is found, or Cryptogenic, in which a cause cannot be identified.

While still in the hospital, they began treating him with Vitamin B6, Pyridoxine and Topomax. He responded a little to the Topomax and the spasms lessened a bit. But within a day, they were back to full force, even worse than before. They then decided to put him on Vigabatrin, which is a pretty heavy duty drug that was just approved by the FDA in 2009. The biggest side effect is permanent peripheral vision loss. He seemed to do well on it and Dominic was released from the hospital after 6 days and sent us home to continue on the Vigabatrin as well as the 3 other meds.

The spasms seemed to subside, but within 4 days of starting the Vigabatrin the spasms returned. Dominic spent 4 weeks on Vigabatrin, Topamax, B6, and Pyridoxine. They tried upping and lowering the dosage, hoping that would help, but the spasms never stopped. They found his Carnatine and B12 levels to be low, so they added a Carnatine supplement and PolyViSol.

After a month on Vigabatrin, they decided to move forward with a much stronger therapy - ACTH. This is a hormone naturally found in the body that they use to treat IS. It's a steroid, so it requires 2 daily injections for 4 weeks. It can cause irritability, high blood pressure, diabetes, weight gain and a slew of other things. However, it seems to be working. As of 1/25, Dominic has been spasm-free for 16 days. Hopefully they do not return.

His MRI and CT revealed that the left side of his brain is a little asymmetrical, a condition known as Cortical Dysplasia. This could be the reason for the spasms, but they aren't sure. If his spasms return, will likely have a surgical evaluation and PET scan in Detroit. They also found the CMV virus in his blood and urine and he started on Valganciclovir, a six week anti-viral therapy. They think the seizures could have something to do with CMV, if it was contracted congenitally, but they'll never know for sure. He will need to have a diagnostic BAER test as well since he did not pass his hearing screening and hearing loss is a side effect of CMV.


UPDATED - July 18, 2011

I figured it was time to update Dominic's story as so much has changed since I first started this blog in January. As of today, Dominic is scheduled for an anatomical hemispherecotmy on August 2nd, where he will have part of his left hemisphere removed. But, I'll start with where I left off back in January....

Dominic completed his ACTH in January and has been spasm free since - a huge miracle! Not everyone with Infantile Spasms responds to ACTH. It was a very tough road - Dominic was very lethargic, cranky, never slept, got HUGE and barley responded to anyone. Once off the steroids, he started smiling again and began to progress developmentally. He had a diagnostic BAER because they were concerned about his hearing, but as it turns out, he can hear just fine. Check that off the list. From about February to April Dominic had a good few months. In February his complex partial seizures returned, which he hadn't had since his first hospitalization in November. But they weren't too bad. They upped his Topamax and kept him on Vigabatrin.

We had a rough day in February when Dominic had a very long complex partial seizure. After 5 minutes, I called the neuro office who told me I need to call 911 immediately. EMT's needed to come and break the seizure. Dominic was taken by ambulance to DeVos Children's Hospital after having a 15 minute seizure. He was kept in for a few days and finally released with a few syringes of Diastat, in case that ever happened again. Dominc was pretty lethargic for a few days but when we were released he started perking up again. During this visit, we also found out that Dominic had kidney stones, caused by the Topamax. So, we needed to start weaning him off that and started him on Keppra. He did okay for awhile.

As he started progressing, we noticed some weakness on his right side. He was taken in for an CT Scan which revealed a hematoma in his brain. They immediately did an MRI which showed severe swelling  at the top of his brain stem. We were told he had had a stroke and had severe brain damage. That was not a fun weekend, let me tell you. As it turns out, Dominic did not have a stroke. Dr. Arndt thought the swelling might be from the Vigabatrin, a pretty unknown side effect. We started weaning him off that and waited to see if the swelling went down.

Because Dominic's spasms stopped, we considered cancelling our surgical evaluation with Dr. Chugani in March. But we figured a second opinion couldn't hurt, even though at the time he was spasm and seizure free. Little did we know what was to come! Dr. Chugani scheduled an MRI in Detroit for April and said should his seizures return and become uncontrollable, he would have a PET scan and surgery could be considered.

Good news came in early May that the MRI showed the swelling was gone (yea, no stroke!) but that his Cortical Dysplasia was much more evident. Dr. Chugani and I decided to keep in touch in case things changed. Well, they did change. In May, Dominic started having a lot more simple and complex partial seizures. At first it would be a couple a day and then he'd go a week or two without any. We played the dosing game and kept upping his Keppra, adding Triliptel and Clonopin. By June, Dominic was pretty much having at least a couple seizures a day; mostly at night. Some days were worse than others. He started vomiting during seizures and we wound up in the ER a few more times. Dr. Arndt added Zonegran but truly felt like after failing 4 meds, surgery was the next step. And the sooner the better. I emailed Dr. Chugani and a PET scan and 48-hour EEG was scheduled to begin the surgery process.

Dominic had all his testing in Detroit a couple weeks ago and we found out Dominic was an excellent candidate for surgery. They had found an exact focus and were going to remove a portion of the outer layer of his cerebral cortex. The PET scan showed that the majority of his left hemisphere had no activity. The part that was active was the part causing seizures. So come August 24th, they will be removing the part causing seizures and disconnecting the rest of his left hemisphere. While we are nervous and scared, this seems to be the last option to give Dominic a normal life. There is a 90% success rate of complete seizure control. We are hoping and praying that this will be the answer to our prayers and Dominic will be able to live a life free of seizures and meds.

UPDATED - August 29, 2011

Dominic ended up having a full anatomical left hemispherectomy on August 2nd, 2011. They decided to move up his surgery and instead of just removing a portion of the left hemisphere, they took the whole thing out! It has been just about 4 weeks since surgery and  he is doing incredible! We spent two weeks at Children's Hospital of Michigan for the surgery and recovery. He ended up needing a VP shunt, so he had that surgery on August 12th. Since being home he has made incredible strides. He is so awake and alert and seems to be living life instead of just existing. He smiles and laughs all the time. He is using his right hand, which they said he may never have use of again. He is babbling and jabbering and starting to figure out how to make different noises. He is sitting up on his own.  It's just amazing how well he is doing and crazy to think that he only has half his brain! This surgery has been such a blessing and we are so anxious to see what the future holds for this little guy!


UPDATED -  August 2, 2012

It has been one year since Dominic's Hemispherecotmy. It's hard to believe a year has gone by and it's incredible to see the gains he has made. Shortly after surgery, Dominic started self-feeding. Within a few months he began army crawling, which is really the only crawling he'll do since he's Hemiplegic. His verbal skills kicked in a few months later and while he only has a few "words", he's constantly babbling. The docs assure us that he'll talk soon, but there are so many new neuropathways being formed and his brain needs to figure out how to work without it's one half. So, it will come!

Dominic has been hard at work at PT and OT. They have him on a treadmill in a harness and in a gait trainer and walker. He's got the stepping part of walking down, he just needs to get his balance and figure out how to make his body work with a weak right side. About 2 months ago Dominic started pulling himself up to his knees, and then to stand.  Just two weeks ago Dominic started cruising around the coffee table. This is a huge step for him as he is really gaining independence! We are so proud of him and cannot believe what a miracle he is! So excited to see what the next year will bring!