It has been over a month since Cara started the ketogenic diet and we are already seeing a new girl. She is more alert, more aware, catching up on skills she lost, more endurance, more interest in people and her surroundings and a dramatic drop in her seizures.
We checked into the hospital on a Monday and after a couple rough days of needles, wires, needles, monitoring and needles we were able to leave on Wednesday. We left relieved that Cara tolerated the diet with no problems but troubled because during our stay we discovered she has developed infantile spasms. I have noticed over the past month Cara has been having an increase of startling type movements and starting to slip backwards in development. While at the hospital she had a couple of clusters of these movements and as soon as we had the opportunity, we brought it to the attention of her neurologist. The doctor decided it was a good idea to go ahead and get a long-term EEG while we were there. I have no idea how to read an EEG but Cara has had enough of them for me to notice that this one was not like the others. There is a camera, computer and monitor left in your room that records the electrical activity in the brain. The image on the monitor basically looks like a seismograph. When there is a movement that you would like to make note of or a seizure you press a button and it makes a mark on the graph so when the doctor is looking at hours of data they can pay special attention to those specific times. We pushed the button about 20 times in a 24 hour period. Even though I have no clue what I am looking at, I stare at the wiggly lines on the screen during every EEG. This one was different. We pushed the button more and I could tell right away that something was wrong.
After the technician came in and removed all of the wires, glue, tape and goo from Cara’s head her neurologist came in to chat about the results. It turns out that this EEG was different. In the past, Cara’s EEGs were mildly abnormal but never actually recorded any seizure activity. This EEG showed constant seizure activity. Basically, there has been an electrical storm in Cara’s brain. She developed West Syndrome/infantile spasms. This was not what we wanted to hear. We always just said Cara had occasional seizures and stayed away from the term “epilepsy”. Now we get to join a new group. Let’s see: special needs, rare and chronic medical condition, tube fed, developmental delay, brian damage… might as well throw in epilepsy right? I mean she already can’t sit up on her own, walk, talk, eat, has horrible acid-reflux, difficulty swallowing her own saliva, horrible endurance and is slipping in her developmental skills, so epilepsy fits in just great.
The day after we got home from one hospital with this new diagnosis, I went to the pharmacy at another hospital to pick up Cara’s new sugar-free carb-free medications. The pharmacist asked the typical list of questions including if there are any ongoing medical issues and I just looked at him and started laughing. He must have thought (and it showed on his face) that I was completely crazy. It is easier to laugh then cry.
Normally the treatment for infantile spasms is heavy duty drugs with serious side-effects and can even require us to give daily injections. Luckily, it just so happens that the ketogenic diet, which we are using to treat her metabolic condition, is primarily used as a treatment of epilepsy including infantile spasms. Her neurologist has had very good results treating children with infantile spasms with the keto diet. We left angry but still hopeful.
Now that I have just made everyone depressed let me fast forward and report on the amazing difference this new diet has made. We are seeing a whole new little girl. The first thing we noticed was that she is smiling and laughing much more. She is more alert, stays awake longer, more interested in everything around her, can sit up for longer periods of time..the list goes on. We have also recently noticed a dramatic drop in her seizures. We have seen 1 seizure in two weeks. It is a wonderful thing.
We decided to take a break from physical and speech therapy until we got a handle on the seizures and the new diet was established. Right before the diet she started to go backwards in both areas which we learned was because of the infantile spasms and that her body just wasn’t able to create the energy it needed to develop and move forward. Now Cara is taking a greater interested in her augmentative communication equipment, has much more endurance and just overall can do more. We are going back into our regularly scheduled twice a week therapy program. I can’t wait for her therapists to see this new little girl.
We have recently found out that there is a lead on our quest for diagnosis. There are researchers from switzerland and the United States that published a paper a month ago about the pyruvate deficiency that we suspect Cara has. Hopefully, in the next few months we will have the answers we need.
I still get those sad moments that all parents with special needs children get. Those will never go away but at least we can start making plans for her future and I can’t tell you how good that feels.
Dan and I are constantly asked how we are doing and while we normally just answer with “fine” “ok” “good” I think our scale differs from most. This article hits pretty darn close to the bulls-eye, especially number 7. It is something that I would like our family and friends to read and wish everyone who knows a special needs parent would read: