Our daughter, Nadezhda, was diagnosed in May 2010 with Dravet Syndrome at age 3. It is a rare and severe form of epilepsy. This blog is for updates on our lives, our thoughts, and feelings. Everyone needs a voice, and here, ours may be heard.
Also, while epilepsy is often misunderstood, Dravet Syndrome is altogether unheard of. We would like to be informative about Dravet Syndrome and supportive for others dealing with similar circumstances.

Monday, April 18, 2011

The Moment I Heard that Damned Diagnosis - now THIS is the longest post ever!

Here is the story of the very moment I heard that Nadezhda, my daughter, had Dravet Syndrome.  I wanted to journal this and I wanted to remember every detail of this terrible moment of my life.  It was an important, turning-point in my life.  I know the diagnosis is my daughter's own diagnosis, but this affected me too, so this story is from my perspective - because that is the only perspective I can really speak for.  This is a very long post.  Readers:  You are under no obligation to read it.  It is quite a personal moment but I wanted to share it with people who have never experienced anything like this, and with people who understand all too well moments like this, and I wanted to remember this forever - as terrible as it might be.  But like any story I attempt to tell, I must start at the very beginning.

Backstory (yes Betsy, backstory) :
ER right after 2nd seizure and already smiling- April 2008
At nearly 9 months old, Dezh had her first seizure, which, after many tests, doctors said was febrile as they sent us home with a rescue medication in case another seizure happened.  2 months later, she had another febrile seizure and we used the rescue meds.  At the point the third seizure happened, doctors felt it was time to find a cause.  She had a "working diagnosis" of Alternating Hemiplegia of Childhood (AHC), which is a very rare and serious seizure disorder for which there is no cure and for which there is only diagnosis by process of elimination.  After many, many doctor appointments, and many ER visits and hospital stays, and no official diagnosis, we moved to the South with new Dr's and a new hospital.
We had been living in the South for a very short time when we received a call from the neurologist we'd left back in the West, Dr. Benedict - who we love, saying she had just been to a conference in Cincinnati where she learned about a rare form of epilepsy called Dravet Syndrome.  During the conference she kept thinking of Nadezhda's case and that so many of Dezh's symptoms fit DS.  She recommended that we politely ask our new neurologist if he would do the genetic test to determine wether or not Dezh has DS.  Dr. Benedict, our West-side neurologist, was hoping that although Nadezhda's symptoms fit very closely to those in Dravet Syndrome it was rare enough that the results would be negative and we could move on to new possible working diagnoses that would be more "normal".
We met our South-side neurologist and timidly asked what he thought about the diagnosis of Dravet Syndrome for Nadezhda and if he would order the genetic test we had heard about.  He stated that he would like to restart the diagnosing process to figure out what was causing Nadezhda's seizures.  He said that hopefully a pair of fresh eyes and more recent tests might point us in the direction of a more "normal" cause of the seizures and that it was highly unlikely to be Dravets.  Actually I remember quite clearly a look of consternation on his face when we said "Dravet Syndrome".  I am sure he had only heard the name in passing once or twice.  He got onto his computer database of diseases and did about 1 or 2 minutes of reading on DS and told us that her symptoms did NOT line up to those of DS. (sucka - you were SO wrong!).  I liked that he, a doctor, didn't think she had Dravets and that he wanted to look at normal explanations for her seizures again.  I think this probably comforted me.  I thought this sounded like a solid, good idea and I gladly went along with it.
My wonderful husband, Curtis, however did not like this idea.  He felt that we were wasting precious time.  He nodded his head for the doctor at this appointment but for the next two appointments the first and only thing he said was, "Can we do the genetic test for Dravet Syndrome."  (It is a really easy test that would give a fairly clear yes or no answer.  So easy- why not just do it doc.  These are just my thoughts looking back).  The doctor kept repeating that he doubted Dezh had DS and that it would be expensive and pointless to do the test at this point.
I am not sure what happened next, but at our next neuro appointment, we ended up with a new, new neurologist.  I am pretty sure we drove the other guy crazy!  Our new, new neuro is Dr. Khan, and we love him.  The first thing out of Curtis' mouth was, "Our old (as in previous) neurologist suggested that we ask you to do the genetic test for Dravet Syndrome.  Can we get that test done?"  I remember thinking, "Geesh Curtis we already drove one neuro away cause you wouldn't let this go, and here we go again!"
I saw the look on Dr. Khan's face as Curtis asked this.  I thought it was the same consternated face that our other neuro gave, but with a few moments of looking over her charts, Dr. Khan said, "Yes, I think that is a very likely possibility and we should do the test.  Her symptoms fit very closely to those of Dravet Syndrome."  (YEAH for a Dr who listened, agreed, didn't dismiss us as stupid parents.  BOO for the possibility of such a severe diagnosis.  Ugh. - sucker punch in the gut, with a side of ice cream and balloons, cause it's kinda cool to be getting somewhere with a diagnosis.)  He immediately ordered the test to be done.  He also told us that he had had 7 other Dravet Syndrome patients during his practice up in Michigan.  (I still can't get over this fact!  We somehow got transferred to the one doctor in our surrounding area who is an expert of sorts on Dravet Syndrome!  Amazing!)
I can't actually remember the specific test being done.  I was so sure that the test would turn out negative that I just thought of it as another blood draw (it is a blood draw, right?).  I think I assumed that these kinds of diagnoses happen to other people who are strong and patient and brave, not to me or my family.  I also assumed that because we had gone through a painful trial of mourning over the possibility of Nadezhda having AHC that it wouldn't end up being something so serious - that our lives would even out now and normalcy would set in again.
Dr. Khan told us that the test is done in only a couple labs around the US and that it would take 2 weeks to get the results back.  During these two weeks, I rarely thought of the test or diagnosis.  Actually, that is not entirely accurate.  I thought about how it would be so crazy if she did have DS.  I thought about how totally unlikely it was for her to have DS.  And I thought about DS when I did research on it so I could inform our families when they would ask for an update on Dezh and the test that was being done.  I didn't really spend much time stressing about it like I did with AHC.  I was seriously so confident that the test would come back negative. After two weeks was up though, I wanted to hear the results (which I thought would be in our favor) so I began to call every other day.  Dr. Khan's nurses kept telling me that they would call me the moment the test results were in and that I didn't need to keep calling.

The Moment We Heard:
Alex(daughter), Debbie and Sam
Our good friends whom we love.
Their other daughter, Leanne, and
her husband, Isaac, are pictured here.
I was out mulching (putting bark around trees and bushes) with my buddy Sam.  I was working for him a few hours here and there to get a few extra bucks.  Sammy-boy didn't like that I was selling my plasma for money so he hired me onto his lawn-care team.  I enjoy outdoor work.  This was, I believe, a Tuesday in late April or early May 2010 and we were mulching the front yard of a kind, fancy, big-brimmed-hat-wearing lady.  Sam and I were spreading mulch around under some bushes when my phone started to ring.  (I keep the phone turned up in case Curtis tries to get ahold of me if Dezh is having a seizure.  I will answer that phone call no matter what!  The only other call that I answer even when I "shouldn't" is when the screen says "UNAVAILABLE".  This is almost always someone from Dr. Khan's office with some information for us.)
I pulled my phone out of the pocket of my grubby work shorts and saw that the screen read "UNAVAILABLE".  I almost put the phone on silent and back into my pocket.  (It's not too professional to answer personal phone calls in front of your boss, you know?!)  So I looked at Sam and said "This may be one of Dezh's doctors.  Do you mind if I take this call?"  He is awesome and laid back so he said of course he didn't mind.  I answered the phone and took a few steps to my left for some semi-privacy.
It was Dr. Khan.  He told me that he had gotten the test results back and had just read over them and felt he needed to call me immediately.  I remember saying, "OK?", but not really listening to him that well because I was SO SURE that he was about to say that the results were negative.  He said, "The test results are conclusive.  She has Dravet Syndrome."  I said, "Oh, OK."  (Picture my tone of voice sounding like I was responding to someone saying, "we are out of 7up, would you like Sprite instead?")  About two seconds later, by his lack of reaction I realized I hadn't given him the reaction he had expected from me so I said, "Wait, what?"  He said, "Yes, she is positive for Dravet Syndrome and the SCN1A mutation."  This time I just said, "oh".  I believe I asked him a couple more questions and we confirmed an appointment that was coming up before getting off the phone.
I hung up and fell to my knees.  Sam looked at me and I told him what the doctor had said.  I think I quietly broke down into awkward sobs.  Sam gave me a hug.  He said he didn't know how to comfort me and that he was so sorry.
I think I was purely shocked.  I really, really, really, truly did NOT expect to her that her results were positive for Dravet Syndrome.  WTF?!?!
Sam offered to drive me home immediately but we were nearly done with our load of mulch so I declined.  I said I would liked to be dropped off at home instead of going to the next yard though.  I told Sam that I didn't want to tell Curtis the news I'd just heard.  I felt nervous to tell him the news but I needed to talk to him so I called to see how he was doing and chatted with him and told him I loved him.  I couldn't bring myself to tell him yet, especially over the phone.  I was afraid that we would be so upset and not be able to hold each other.  I still remember seeing him trotting down the hall of the ER as he arrived from school, part way through her first seizure.  We looked at each other with a look of panic and dread.  We thought we were losing our baby.  I didn't want a repeat of that horrible moment with the fresh news I'd just received.
As we were finishing up our mulch job, the nice, hat-lady came out with a tray of fancy glasses filled with ice-cold raspberry lemonade.  It was very refreshing for the hot summer day but I had a sick, heavy feeling in my stomach and I wanted so much to be with my family or maybe just completely alone.
Sam dropped me off at my house and I walked in, gave my family kisses and told Curtis I had some bad news to share with him after I showered.  He came in the bathroom while I was showering and I asked how he would prefer to hear bad news.  He said he would want to know straight-up.  So I told him.  I asked if he was ok.  He said that this news sucked but at least we had a diagnosis.  I think he knew very early that this test would come back positive.  He handled it like a champ.   I remember telling Dezh about her diagnosis next day.   I told her what Dr. Khan had said and that we would do everything we could to make her happy and help her have a normal life.  I am sure that she was too young to understand but I felt she had a right to know too.

That was one of the worst days of my life.  It is right up there with Nadezhda's first seizure.  Really horrible!  Sometimes I wonder if I dropped to my knees when I heard the diagnosis because I was being dramatic like actors reacting to terrible news in movies, or if that was truly my heartfelt reaction.  Leave it to me to try to make the situation more dramatic than it needs to be.  Oh well.  If I knew then what I know now about Dravet Syndrome, I probably would have barfed on the spot, or died maybe.  Luckily we are learning little by little.  It is less overwhelming that way.

Our lil family on Halloween 2008! Classic faces everybody!


  1. How is it that I have not ever heard this story? I am such a terrible friend. I'm sorry that you, Curtis, and especially Dezh have to go through all of this. It breaks my heart. You are seriously the most amazing little family though. If anyone can get through it, I know you guys can:)

  2. Gail, you know that I love hearing (or reading) you tell stories because they are from the heart and they include such great detail (and back stories!) Love you Gail, you are my hero

  3. I love so many things about this post. I wish we lived in the same town! I would SO love to hang out with you. :o)

  4. Gail I have been reading your blog for a while now and I am obsessed with learning more about Dravets. My heart hurts for you as a Mom and how difficult it must be to not be able to make it all better. Please know that you and your beautiful family are in our prayers!! And I pray that a cure is found soon!!

  5. I'm so sorry. I wish I could have been there for you. I had no idea all of this was going on. I love you so much. Some times life really sucks and I'm sorry.