Renzi and I got a phone call on New Year's Eve from Dr. Norman, Isaiah's neurologist. This is not abnormal in that we keep in touch with her and see her at church (she and her husband teach Jackson's Sunday School class and have kids the same age), and she also serves on the Board of Directors for The Isaiah Stone Foundation.
She said she had some news and wanted to talk to us both at the same time.
Boy. Oh. Boy.
I was NOT prepared for what she told us.
This post from four years ago explains a little bit of background on our genetic test journey and the miracle of actually getting to have the test done (
Dreams)
Basically, four years ago we had a genetic test done on a blood sample of Isaiah's that a lab in Iowa happened to still have even after he had passed away. We wanted to know if his epilepsy was genetic. We were talking about having another baby and we wanted to make sure that we could find out all we could about genetics to avoid epilepsy in our next child if possible.
Here is an excerpt of that post:
"I asked if there was any possible way the lab would still have his blood sample. Dr. Norman said it was unlikely because it had been almost a year and most labs destroy any unused and used samples. She said she would make a call that afternoon to the lab in Iowa and just see.
And what do you know. They still had his blood. ALL of it.
So, we ran the test. This test would let us know whether or not Isaiah had a genetically inherited type of severe epilepsy. If it came back positive then that would mean he was a carrier of the gene and then Renzi or I could be tested to see which one of us was also a carrier of the gene. If it came back negative, then that would mean that his epilepsy was just a fluke and that somehow when he was growing in my womb that one tiny flap of his brain didn't grow right and there was nothing that caused it to happen that way.
Well, after about three weeks we got the results back.
The results were negative. This means that if Renzi and I decide to have more children someday it makes it very unlikely that he or she would be affected with epilepsy like Isaiah."
That all changed after the phone call we received on New Year's Eve.
Dr. Norman told us that she had been contacted via letter a few weeks prior about changes and improvements to the SCN1A genetic testing and that they were offering free of charge to "retest" anyone who had been tested in the past five years and they wanted to test Isaiah again.
Dr. Norman called the company who performed the test initially and explained to them that the patient they were requesting to test was deceased. The lab did some digging and lo and behold they had a few vials left of Isaiah's blood and they then offered to test it. FOR FREE.
Dr. Norman said this sort of thing just does not happen. Number one, no test is ever free when it comes to genetic testing. These tests can cost upwards of thousands of dollars.
Number two. It is not normal for labs to keep blood samples FOR FOUR AND A HALF YEARS.
The only thing Dr. Norman can think of....is that this is a God thing.
She had the test run and got the results on New Years Eve.
The test this time came back positive.
She told us that Isaiah did in fact have a genetic form of epilepsy called "Dravet Syndrome."
Dravet syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare and catastrophic form of intractable epilepsy that begins in infancy. Initial seizures are most often prolonged events and in the second year of life other seizure types begin to emerge. Development remains on track initially, with plateaus and a progressive decline typically beginning in the second year of life. Individuals with Dravet syndrome face a higher incidence of SUDEP (sudden unexplained death in epilepsy) and have associated conditions, which also need to be properly treated and managed. These conditions include:
- behavioral and developmental delays
- movement and balance issues
- orthopedic conditions
- delayed language and speech issues
- growth and nutrition issues
- sleeping difficulties
- chronic infections
- sensory integration disorders
- disruptions of the autonomic nervous system (which regulates things such as body temperature and sweating)
Children with Dravet syndrome do not outgrow this condition and it affects every aspect of their daily lives.
Unless a cure or better treatments for Dravet syndrome and related epilepsy's are found, individuals with these disorders face a diminished quality of life. Current treatment options are extremely limited and the prognosis for these children is poor. The constant care and supervision of an individual with such highly specialized needs is emotionally and financially draining on the family members who care for these individuals.
As you can imagine, it was quite a shock to find out why our son died after all of this time and what caused his epilepsy. We had shut that door a long time ago of ever really knowing, so you can imagine that I was a teensy tiny (ok, a WHOLE HECK OF A LOT) upset. My emotions were all over the place. So many questions.
But my number one question was this, "What does this mean for my two living children?" "Will Jackson and Walker have this disease as well?" "Will we have to endure this all over again?"
Dr. Norman was very quick to let us know that Dravet Syndrome arises "de novo," which means it arises spontaneously after the sperm and egg come together...which means that Renzi and I are not actual "carriers" of the gene. It just formed when Isaiah was conceived. Because of this, by far the most likely scenario is that Isaiah had a new mutation. At the time of conception, everyone has some DNA rearrangement-some pieces fall off, some pieces duplicate, some get rearranged. This is part of the normal and expected process. We have so much "extra" DNA that this typically happens in areas that don't really matter. It just serves as our genetic "fingerprint" but doesn't cause the disease. Occasionally, these rearrangements happen in very important regions, as in the SCN1A gene and it causes a significant disease, like Dravet Syndrome
Darvet Syndrome onset is always in the first year of life. This means that because Jackson is 7 and Walker is almost 3 we are in the clear.
One of the main things that I keep coming back to with this information is how important epilepsy research is. Think how much this genetic test changed in four years. The pace of genetic discovery in epilepsy is staggering, and repeat analysis is crucial if we want to get to a genetic diagnosis and ultimately move toward precision medicine for people with epilepsy.
Funding for epilepsy research is so critically important. First, it will help more and more families like ours finally get answers. New patients will get more immediate answers-answers that may potentially inform them about treatment, future family planning, risk for future generations, etc.
All of this information has made me even more proud of
The Isaiah Stone Foundation.
Renzi and I started this foundation three years ago and this past year on what would have been Isaiah's 5th birthday (June, 15, 2014) it became an official 501c3.
We have an annual fundraising event each year and last year we raised over $100,000 for epilepsy research and for children and families in the state of Oklahoma who are dealing with this baffling disease.
We also host the Isaiah Stone Pediatric Epilepsy Lecture Series at OU Children's Hospital, where we bring in a leading pediatric neurologist to do ground rounds with the neuro residents and fellows at OU, give a speech and participate in a caregivers panel where families of children, siblings, etc. who suffer from epilepsy can come together and ask questions of the neurologists and meet other families who are going through some of the same things they are. The point of the caregivers panel is to help these caregivers not feel so isolated and alone in their epilepsy journey. To me, this is one of my favorite things we do with our foundation.
Our new website is up and running....
www.isaiahstonefoundation.com
I encourage you to please visit the site, look around, read, and pass on the message to others. There are numerous tabs throughout the site where you can donate, or if you would like to be a sponsor/donor for our next event, please just let us know on the contact tab on the website.
Given all of the craziness to get to this point I think what Dr. Norman said to me hits home the most. She said, "I always try to keep my eyes open for God's footprints in the world and truly that is the only way I can explain this series of events."
I've said this before over and over again over the years and I will say it again. Our God is a Sovereign God. He does not seek out to do harm to us. He chose to give Isaiah to us and he was with us when we had him and he was with us when we lost him. It's up to us what we do with situations we are given in life. How we handle them and choose to do so is our testament to God.
Our calling is to help others navigate this awful disease and we believe there will be a CURE.
Please consider donating to our foundation. Every dollar helps in beating this disease.
