American Epilepsy Outreach Foundation

Mackenzie just had a birthday and she was a typical 4 year old enjoying preschool and spring time in Central New York.  Her teacher, a trained RN, called me and said our little friend Mackenzie isn’t looking right today.  She wants to go home.  What??  This isn’t my little Menzie.  She loved preschool and loved to be around her friends.

Then the first seizure happened.  I got a call at home and she had fallen and caught the edge of the table.  When I went to pick her up, I spoke with her teacher about how clumsy she had gotten.  We had taken her for a walk and she just kept dropping to her knees…I thought it was a just a growth spurt and she was getting used to it. 

Then one night at the dinner table while she was sitting in her booster seat, she was talking and Chris and I were looking right at her….Her eyes rolled up into the back of her head.  He looked at me and I looked at him and we both said together, “Did you see that.”  Well we were going to her well check visit the next day so we decided to bring it up then.  Well she was clearing her plate from the table and she just dropped like a rag doll.

Then next day….Julie and Chris, “I believe your daughter has EPILEPSY.” 

Our pediatrician said he believed she was having complex partials and he was going to refer us to the pediatric neurologist here in the area.  We were thrilled, we had met with him before when our oldest didn’t want to get up and walk.  Well before we got to see him as an out-patient we saw him as an inpatient.  We had our first Tonic-Clonic, or grand mal seizure. 

Our physician admitted her to the hospital, ordered a sleep deprivation EEG and ordered a consult with the neuro.  Well they didn’t do the sleep deprivation EEG…I don’t know why.  They did it while she was awake.   She was very active while in the hospital and during the test (the test should have been voided and redone).  She ran around the ward, IV in tow, much to the chagrin of her nurse, Miss HELEN.  Miss Helen thought that she was spoiled and dotted on too much.  That was the report that she gave the pediatric neurologist and that she thought that it was breath holding spells because both of her sons would have breath holding spells.  For all of you out there, breath holding spells are appropriate for toddlers when they can’t communicate their frustration, while for a 4 year old, they are called brat spells.  So based on the botched up EEG, the doctor said that she was having breath holding spells.   WHAT?!?!?!!?

So we called her pediatrician and he couldn’t believe it either.  So he called and ordered a sleep deprivation EEG to be done as an outpatient.  From the hours of 2 am - 7 am, she had 4 drop attacks.  We brought her to the hospital did the test and she fell 3 more times in the hospital alone.  By noon she had over 30 drop attacks.  I called the pediatric neuro.  He told me that he didn’t have time to go and look at the EEG because his partner and all I heard was, “BLAH, BLAH, BLAH.”  I told him that she was having drop attack after drop attack and it is Friday and I am not going the weekend without something being done.  I swear to you 15 minutes later he called. 

                “Mrs. Kulawy, we have a serious problem.” 

                “No kidding.”

                “She does have seizures and really bad seizures.  I want to start her on Topomax and see you in the clinic on Tuesday of next week.”

On Tuesday a very sheepish doctor came into the exam room.  “Mrs. Kulawy, I am sorry I blew it.”  He knew I was irate with him.  I wouldn’t make eye contact nor would I speak with him.  My husband did all the talking.  Mackenzie was standing over near the doctor and my husband and I would say, “Watch it she is going to drop” every few minutes so they would reach out and hold her up.

“Mr. Kulawy, your wife is very observant; she would make a wonderful nurse.  She notices things that many people wouldn’t.”  All I could think is sure now you are being a suck up. 

He decided that the vamping up of Depakote was going to take to long, so he prescribed Keppra….1 mg of it and to be seen in follow up in three months time.  My daughter was a 4 year old, not an infant.  That was infant dosing. 

That was the last straw.  I called her pediatrician and told them I wanted a second opinion. 

Now enters Dr. Crosley.  He first came into the room and introduced himself to Mackenzie.  He took her over to the window and showed her all kinds of things that were going on in Downtown Syracuse.  Then he sat down and got her full history.  Listened to everything I said and then asked more questions.  He did all the neurological testing.

He looked at me and said, “Mom, she has Doose Syndrome.  It is characterized by all three of the seizure types that you are seeing, the jerks, the drops and the looking off into space.  I have to tell you that it is very difficult to treat.  It is a very malignant disease.   I would like to try and help her.” 

He kept her on the Depakote and added one drug.  Nope, not the right combo.  Ok let’s try this combination, nope not right yet.  Let’s try adding Topomax to the Depakote.  She was seizure free for 30 days.  She played soccer last fall and during that time she scored 2 goals.  Then she got sick and had another TC. 

Dr. Crosley tried her on Depakote and Lamictal and when he tried that combination he said that he was nearing the end of what he could do for her.   The Lamictal worked, but she got Steven Johnson’s from it.  She had to get off of it immediately.  The thing that stinks…It was working.

I then contacted Boston Children’s Hospital via the request an appointment link.  Three days later I got a call.  We were seen 2 weeks later by Dr. Kothare.  He concurred with Dr. Crosley’s diagnosis and said it was time for the Keto diet.  He also wanted to do some testing and get us on the books for the Keto diet.

At the end of January, Mackenzie went for a 48 hour VEEG.  Upon completion of that test we learned that she was having thousands of seizures a day.  The break down was 2 seizures per minute in the morning and 1 seizure per minute in the afternoon.

On February 25^th, 2008, we met Dr. Bergin who oversees the Keto diet program at Boston Children’s Hospital.  She thinks that Mackenzie will do well by this diet.  We met the dietician who will administer the diet and the social worker who makes sure that we are tended to emotionally as a family unit.  What a wonderful team.  While we were there Mackenzie had about 30 drop attacks, she almost went into NCSE, and she was short by 1 minute.  We were told that it would be about 4-8 weeks before she was admitted because she needed to have blood work done that would make sure that her body would be able to handle the diet.  This diet isn’t for everyone and not every child could sustain on this diet.  This was on a Monday, two days later I got a phone call from the nurse and she said that she got the first round of tests back and she was Vitamin D deficient and to go out and get her a supplement.  Then she said how about an admit date of March 25^th?  My first response was, “if you were here I would kiss you on the mouth and then I started to cry.”  Finally, someone saw how my daughter was struggling besides her family and friends. 

We are now 10 days out from starting the diet.  I am nervous, and I am most of all excited.  I am very hopeful that this diet will drastically reduce her seizures to make everyday living-what we take for granted-possible.