Final Report

It has been almost a month since we got the phone call from Pittsburgh and I think we have all come to terms with the new diagnosis.  I think Mason summed his feelings up the best when he said, "I feel like we have been living a lie all these years."  I did get a confirmation email shortly after my last post from the genetic counselor telling me that our Geneticist feels comfortable ruling out any Mitochondrial Disease.

We just got the paperwork from Pittsburgh in the mail this week with the final results.  I sure wish I had the brain to understand what all that stuff means...  Good golly some of it is like a foreign language. I can now see it in black and white that she has a positive mutation in the SCN1A gene..  I also see that she has "six other variants of unclear clinical significance in autosomal recessive conditions."  Autosomal recessive disorders are those in which both copies of a gene must have a mutation (one from mom and one from dad).  Lauren has one variant in an oxidative phosphorylation deficiency (mitochondrial issue).  So basically, she has a mutation from one of us in a certain gene but, not the other and therefore it is determined that she is unlikely to have  mitochondrial disease.  Clear as mud, right?   The other five conditions I have never heard of but, two of them mention seizures...interesting.  Will have to Google them.

If you know me at all, you know that I have spent a lot of time on the computer researching Dravet Syndrome and looking for support groups.  I did find a great support group through Facebook that has led me to a couple of local families that are raising children with DS also.  There are also people from all across the US and around the world that are a part of this support group.  It's a relief to know there are others out there that I can ask questions and learn from.  I also was given names of a couple of Neurologists who specialize in Dravet Syndrome.  We have decided to seek treatment from one who is at the Mayo Clinic in Rochester.  I called this morning to get the ball rolling to get appointments set up with her.  I had to put together some information to fax to them and then they will call us to set up an appointment.  The girls used to receive treatment at Mayo in the early years until our Geneticist left  practice there so we are already established patients there.  We are looking forward to seeing what is in store for us next.

The girls are doing okay.  Been a little rough over the last couple of weeks.  Lindsey had the worst seizure day ever two Saturdays ago when she had 10 "big" seizures. Luckily they were all under a minute in duration. I had the phone in my hand to call 911 a couple of times but kept thinking she was going to stop.  I had given her one more and then I was going to call.  Thank God she stopped!  We have gone six long years without a trip in the ambulance and we sure didn't want to have to break that streak.  Plus, had we taken her in they would have loaded her full of drugs and she would have been a big mess afterwards.  By that night she was good as new and back to her ol' ornery self.  The day before that Lauren fell forward in a seizure and proceeded to cut her eyebrow with her glasses, get a black eye and a fat lip all at once.  That afternoon Lindsey had one at school and hit her head on her desk and also had a fat lip and bruise by her eye.  Needless to say, they both looked a bit rough for a few days.  You know what?  Seizures suck!

When I was going through the girls' paperwork getting things together for Mayo, I looked through their medical records from their first two years of life.  It brought back a lot of memories.  Lauren had her first seizure with a fever when she was 5 months old.  Lindsey had her first seizure three weeks later and one day after her 6th month immunizations. It was interesting to go through and read the documentation from the hospital and doctor's office.  It made me think about all of the ambulance rides we took, some up to St. Paul.  That was one long ride...  I remember one time we were riding up there with the lights flashing and by the time we got into Minnesota, my bladder was about to explode.  So, we pulled the ambulance over at a gas station, I ran in and used the restroom and off we went again.  I wonder what the people there thought... I think by far the worst thing we went through in their first two years was the time that Lindsey had a seizure for an hour and a half, was intubated  and was then  life-flighted to St. Paul from Waterloo late one night.  Unfortunately, I couldn't ride with her in the helicopter which totally broke my heart.  There is nothing worse than watching your child being taken away and not knowing what is going to happen when you see her again.  I have a wonderful friend named Colene who drove me to St. Paul that night while Matt stayed home with the kids.  It was the longest drive ever but, I was so thankful to have her with me.  We kept looking up at the sky at every blinking light we saw wondering if that was Lindsey...  She was in the ICU when we got there and was in really rough shape.  Sometime in the wee hours of the night after speaking to the doctor, Colene and I were taken to a utility closet just off the ICU floor where we shared a bed and got little sleep.  We have chuckled over the years about the night we slept in a utility closet.  It was that time while Lindsey was inpatient in St. Paul that we got the results of her muscle biopsy and were told the girls had mitochondrial disease.  Luckily we did not have another helicopter ride and our many ambulance rides were local from then on.  And as I said earlier, we haven't been in an ambulance for over six years.  We have come a long way!

Enough of my ramblings and reminiscing.  I am reminded once again how God has protected our girls over the last 12 years and am so thankful for His grace and mercy. We are blessed beyond measure.  I will leave you with this picture of our precious girls.  Lauren was having a particularly bad day and Lindsey kept watch over her.  We should all be so lucky to have unconditional love like this.

  

 

A Definitive Diagnosis

The phone call we have been waiting for came yesterday...  Lauren's genetic testing results came back from Baylor University.  The news was something we didn't expect and took us by surprise. But, after doing some research and thinking about it, makes perfect sense.  The lab found a change in a gene for a seizure disorder. The gene is SCN1A and this now gives the girls a primary diagnosis of Dravet's Syndrome.  The genetic counselor spent a bit of time with me on the phone explaining the test results and as my brain tried to comprehend what I was hearing and my hand tried to keep up with what she said, I am still trying to sort everything out.  What about Mitochondrial Disease?  From what I have read in the last day, some patients with Dravet's have a secondary mitochondrial dysfunction.  I am waiting to hear back with some clarification about this.  We will receive a report in a couple of weeks explaining all of the results and it will hopefully answer our questions.  Regardless, we have an answer to what the primary problem is.  We also learned that Matt and I are not carriers.  This mutation happened when God made L&L.

If you haven't already, you may be opening a new tab and doing a search about Dravet's Syndrome just like I did.  Dravet's Syndrome is a rare, incurable and severe form of epilepsy.  There are four different types of Dravet's Syndrome (DS) and unfortunately, the girls have the most severe form.  Seizures typically begin in the first year of life and often after six month vaccinations.  Lauren had her first seizure within days of her 6 month vaccination and Lindsey had hers a couple of weeks later.  Initial seizures are febrile (with fever) and seizure types progress from there to include myoclonic seizures (have them), absence seizures (have them) generalized seizures (have them).  Seizures often result in status epilepticus (seizures that do not stop without medical intervention). The girls had more status epilepticus events than we can count in the first five years of their lives.  Seizures do not respond to standard anti-convulsant drugs. Yep...  Rapid changes in body temperature (fever or outdoor heat) cause seizures.  That is huge for us.  Children with DS often also face developmental challenges such as autism or autistic-like characteristics, cognitive and/or communication delays, social skills and behavioral issues.  Yes, they have all of the above.  See why it all makes perfect sense now?

On the bright side, this diagnosis gives us one more seizure drug to possibly try that we have never been able to due to the mitochondrial disease diagnosis.  Depakote is the drug and can be fatal to patients with certain types of mitochondrial disease.  Every neurologist we have seen has said that Depakote would be the perfect drug for our girls but, they would not prescribe it due to the risks.  We will make sure that everyone is on the same page before seeking that treatment, but we all are hopeful to be able to give it a try.  On a not to good note, one drug that the girls have been on for a few years is not indicated for patients with DS because it can worsen seizures so we have started to wean them from that drug.  Unfortunately it isn't something that we can just stop.  The wean will take 8 weeks...

So much to process and think about.  It's not a great diagnosis but, it is a diagnosis.  It's an answer that we have been searching a long time for.  It really doesn't change much in our daily lives as we have already lived the last 11+ years with a rare and incurable disease diagnosis.  We are thankful for the genetic testing that was done to help us get here.  Science is amazing my friends....I cannot even fathom what it will be like 10 years from now.  Maybe there will be a cure for all of these debilitating diseases that are affecting our loved ones.  We can only hope and pray.  Today, ten years down the road and forever one thing will remain constant.  Our God is bigger than any disease and He is the ultimate healer.  Although healing may not come here on Earth, we will all be whole again someday.  That brings me peace.  I hope you have that same peace in your heart.

The journey continues...on a slightly different path.