How we got here

As we struggle and fight with Gracie on a now daily basis to get her to eat, I keep needing to reassure myself that we are doing the right thing for her. In my head I know that we are but in my heart I keep questioning if we should keep this up for her. How bad would it be if we went back to where we were before the diet?

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Grace came home from China with us on December 23, 2006. On December 27, 2006, we took her for her first doctor appointment / physical. She was given some catch-up immunizations (4 to be exact). The next day Grace spiked a fever and had her first seizure. When the seizure hit, we didn't know what it was or what to do. At first we thought she was choking - but she had no food and her whole little body was shaking so that just didn't make sense. That was our first trip with Grace to St. Mary Medical Center. I remember the nurse explaining to us how frequently they see children who spike a fever and have a seizure. We were reassured that this was likely her first and last seizure. Most children who have a seizure never have another one in their lifetime. Grace was fully checked out - all of those routine labs were done and she had a chest x-ray. We left the ER that day thinking that we could leave all worries of seizures behind and move on.

One month later, Grace had a second seizure. She woke up early that morning and I brought her to lay with me in bed. She was snuggled up with me when the seizure hit. We now knew that it was a seizure right away. We called 911 and had her taken to the closest Emergency Room. From there Grace was transferred to CHOP - Children's Hospital of Philadelphia. As an aftermath of the seizure, Grace has these awful red dots/spots all over her face, head, arms and legs. Apparently these petechia are often indicators of some very scary and serious illnesses. When we got to CHOP, Grace was tested for everything under the sun. She had a spinal tap and an MRI, x-rays and tons of blood and urine tests. She was on all kinds of precautions and everyone who came to see her was covered head to toe and earing masks. She had consults with infectious diseases and neurology as well as general pediatrics. It turned out that she had RSV - a common respitory virus, the virus caused a fever which triggered the seizure and an unknown origin for the rash. That was the trip that got us hooked up with her present neurologist - we loved him from the start. We took Grace home with the understanding that some children are prone to febrile seizures when they spike a fever. Most children with these seizures have a few episodes during their childhood and grow out of it by age five. The neurologist discussed some medication options for seizure control but did not feel that was warranted at that point since all of her seizures had a known trigger. I was so glad that we didn't have to start any medications for Grace that she would have to take the rest of her life.

Grace continued to have the occassional seizure whenever she got sick. Fever continued to be the trigger for her seizures.

Grace had a major seizure in June 2007. This was the first time she seized with no obvious fever trigger. It lasted 50 minutes and when it was over she could not move the right side of her body. The ER doctor called me out of the room to say they thought she may have suffered a stroke in the midst of this seizure. They sent her for an emergency MRI of the brain while we waited for the CHOP transport team to come and get her. No stroke. And the best news of all - the paralysis was temporary. Her brain was tired from the seizure and took a break from sending signals to that part of her body. It was now time to start Grace on medication. Even thought this was only one non-fever triggered seizure and they ususally wait for two such events, the doctor thought it best to start her on medication then rather than wait. We were also given medication to administer at home for any seizure lasting over 5 minutes. We left the hospital with Grace on daily medications but the hope that the medications would help us to never get to that point again.

Grace continued to have seizures over the next few months both febrile and afebrile. Each time, we upped the dosage of her medicine until we hit a point that the medication seemed to be controlling her seizures. Grace went almost 4 months without a seizure. We once again relaxed - it seemed that we were past the worst of it. When the seizures started up again, they seemed to be a bit stronger and different. Grace also started to have longer and longer seizures. Once the seizure got hold of her, it was very hard to stop. We started changing medications and dosages and playing with it but nothing really gave her control again. Her neurologist recommended that we be aggressive. We wanted to stay ahead of the seizures and try to stop them before they did any lasting damage.

During the summer of 2008, Grace went into the hospital for long-term video eeg monitoring. Basically, they hook her up with an eeg machine and slowly decrease her medications to try to capture the seizures starting on the eeg. The point of this is to see if there is one area in her brain that was triggering all of her seizures and if so, was surgery an option. At the same time, we did some genetic testing on Grace. The end result, Grace was not a canidate for surgery. This was both the good and bad news - we did not have to make an agonizing decision regarding brain surgery on a two year old but it cut out one possible option to give her some hope of control. We discussed the ketogenic diet as an option for Grace at this time but we decided against it because we knew it would be difficult to keep her on the diet.

The genetic testing results came back about 6 or 7 weeks later. Grace tested positive for the SCN1A genetic mutation - she had a sodium channel mutation thus leading to Dravet's Syndrome. Once again good and bad news - we now knew exactly what we were dealing with but we didn't like it. We found a drug not yet authorized for use in the US that was found to really help kids with Dravet's. CHOP was willing to do the mountains of FDA paperwork to allow Grace to take this medicine. We were so sure that this would be the thing to give Gracie back some control. As we waited for thing to get rolling with this, Grace was having some trouble with her blood counts and the levels of the main drug she is taking and how it worked in her body.

In November of 2008, we were told that because of the problems with the blood levels of the one medication, Grace was not a canidate for the experimental drug. Our options at this point were a drug called Felbatol that has some very serious side effects or the ketogenic diet. It didn't take long for us to decide to go with the diet. For a patient to take Felbatol, you need to sign a consent form and acknowledge the risks of taking this medication. Of particular concern to us was the potential side effect of aplastic anemia - a cancer of the bone marrow. There really was no choice - Grace was starting the ketogenic diet.

So, here we are - knowing in our hearts that the ketogenic diet is right and good for Grace but feeling oh so conflicted when we need to hold her down and force her to drink heavy cream. We watch the days seizure-free counter go up and know that this diet has given Grace seizure control that she has not had in over a year and a half. And yet, we know that this is coming at a cost. On the days that she is happy and does not fight us, it is very easy to know that this diet is the right thing. But on the days when she is miserable, tired and weak, I find myself asking if we have sacrificed her quality of life for a few seizure-free days. Were the seizures really so bad? Can we just go back to where we were?

In the end, I think my ability to block out the fear and the bad memories is what is making my guilt so bad right now. I know that we are doing the right thing for Grace. I know that this is the best course of treatment for her disorder. I know that nothing will control her seizures as well as this diet is doing. I know that this diet gives her the best long-term prognosis. I just forget when she cries.

Marie