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.

Changes...

Here it is almost February already...  It seems the older the kids get, the faster the days and years go by.  I can't believe that in October of this year we will have four teenagers in this house!  I am so thankful that our girls are reaching this milestone but, oh my goodness I cannot believe it!  Mason got his learner's permit this past month so the next thing I know, he is going to be sixteen and driving.  Delaney started her first "real" job (aside from being a nanny) about three weeks ago so she is earning some money and learning how the real world works.  She isn't a fan of taxes being taken out of her hard earned wages.  Join the club my dear...

We have been hunkering down during this dreadfully cold winter.  Who even wants to go outside in this cold?  Definitely not I...  I have been keeping busy with some household projects while staying nice and warm.  Back in 2006 Make A Wish did a basement makeover for Lauren's wish.  A wonderfully talented woman came in and painted a huge outdoor scene in our basement as Lauren's wish was to have the outdoors brought indoors due to the girls' heat intolerance and inability to go outside when it is hot.  Here are some pictures of her work.

The Bible verse is our family verse which is Hebrews 11:1 "Now faith is being sure of what we hope for and certain of what we do not see."  Our favorite part is the huge tree and the little Lauren and Lindsey .  In the pic of the two girls, Lindsey is the one on the left and Lauren on the right.  Little known fact...Lauren is in a t-shirt and underwear in that picture.  For years at Jolly Holiday Lights in Des Moines, the picture below of the girls was on display during the event.  We always cracked up while going through JHL wondering if anyone noticed Lauren's lack of proper picture attire.  Look at those sweet little faces and those curls....how I miss those curls!

In the first picture above you will notice Barney and Baby Bop are the first people you see when walking down the stairs to the basement.  Now that the girls are 12, we decided it is time for a new look and Barney, Baby Bop and Zoe on the next wall have been painted over.  It was hard for me to do.  We are keeping the rest of the play room as it is as we can't bring ourselves to paint over the tree and girlies.  I also painted over the brick wall.  That was what I referred to as our Sesame Street wall.  I painted that as the basement was being transformed.  With Barney and Baby Bop gone, it just didn't look right anymore.  I must say though it does look a bit naked when you look downstairs and Barney is no longer greeting us.  The girls have gone downstairs a number of times since I repainted and have not said a word...

Speaking of the girls, they are doing pretty good.  Seizures are still occurring more often than we would like but, they have been healthy and doing well.  They seem to be a little more tired lately than normal, especially Lindsey.  They are keeping us on our toes with their mood swings and cracking us up with their funnies.  We are still waiting for the results of Lauren's genetic testing.  I am guessing they will come back late February or March.  We have a meeting tomorrow morning with Childserve to get them signed up for the Girls Weekend respite time.  They are going to be so excited when they get to go!  I...am going to be a nervous wreck.  My little babies...not so little anymore.  Thank you God for letting them grow up and become young ladies right before our eyes.  Blessed...