Lots of big words in this paragraph....
It is a technique for sequencing all the protein-coding genes in a genome (known as the exome). It consists of first selecting only the subset of DNA that encodes proteins (known as exons), and then sequencing that DNA using any high throughput DNA sequencing technology. By sequencing the exome of a patient and comparing it to normal reference sequence, variations in an individual's DNA sequence can be identified and related back to the individual's medical concerns in an effort to discover the cause of the medical disorder. It is known that most of the errors that occur in DNA sequences that then lead to genetic disorders are located in the exons. Therefore, sequencing of the exome is thought to be an efficient method of analyzing a patient's DNA to discover the genetic cause of diseases or disabilities.
Back to my babbling..... :)
Some have asked why would we possibly want a diagnosis? There are a few reasons for this: is this genetic meaning that Mike or I passed this gene along so that we can inform our siblings and test Isabelle as well AND will Isabelle develop the same thing as Emily and just has not presented symptoms yet due to a less severe mutation of the same gene? We were told the diagnosis is de novo - meaning neither parent has this same marker/mutation. Yes, it is true, there is no cure for Emily. However, having this known cause is both and "ah ha" moment and also lets us know that her struggles are related to her sodium channels.
The sodium channels are responsible for the electricity that makes your brain and heart function properly. So, with that being said we are now adding a Cardiologist to Emily's team of over 10 specialists. Emily will be getting a EKG, ECHO and have to wear a Holter for 24 - 48 hours to test her heart. This is all a precaution and to be proactive about her care. IF she gets the all clear with her heart we can look into treatment for her seizures with the aide of non-epileptic medications: lidocaine, mexilitine and/or verapamil. We might even look into getting Stiripentol from France to try as well. In the meantime, we have started a trial of acetazolamide which in the olden days was a diuretic/water pill. Somehow it works on the sodium channel to help calm it down - let's see if it works for her seizures - fingers crossed.
Emily also got the official diagnosis of Migrating Partial Epilepsy of Infancy (MPEI) on Tuesday of this week when Mike and I met with her neurologist, Beverly Wical at Gillette children's. We have talked about this diagnosis in the past, but on Tuesday it was made official. MPEI is a syndrome which means it is made up of a group of signs and symptoms that, added together, suggest a particular medical condition. In epilepsy, examples of these signs and symptoms would be things like the age at which seizures begin, the type of seizures, whether the child is male or female and whether they have physical or learning disabilities, or both. The results of an electroencephalogram (EEG) are also used to help identify epilepsy syndromes. The prognosis for this syndrome is not good.
I feel Mike and I do a good job at being realistic about Emily's future. It is hard to think of the day when your child may not be there anymore. I'm sure we all do this whether our child has special/medical needs or not. Looking in Emily's future it saddens me that she will never feel the true joy of marriage or have any children of her own. She is not likely to ever have a true relationship with a significant other and a wedding where her father could walk her down the aisle. But for now she has so much love to give and receive from those around her. None of us ever truly know how long we will be here, but it is so important to seize each moment and appreciate the little things in life. Although the prognosis of MPEI is not good and the unknown prognosis of SCN2A is there, we still try our best to take advantage of the time we have together as a family. Life is short, so live it while you can. Try things that you wouldn't like to do and notice the beauty in all that surrounds you. This is what having a child with severe medical needs has taught us and hopefully Emily can teach you this lesson as well.
I do feel closure having an official diagnosis for Emily. I can now stop the conversations I have in my head about what did I do wrong while I was pregnant. These conversations don't happen often, but now they have been put to rest for good. This is just a crazy fluke of nature. A teeny tiny little mutation in one small part of a gene that created so much havoc for Emily from the beginning of her time.
We have found a support group of families that have children diagnosis with SCN2A. The group is fairly small as this diagnosis is very rare. With the help of exome sequencing I am sure there will be more diagnosis to come and maybe even a name to this gene mutation. SCN1A is known as Dravet Syndrome - FYI. SCN2A is known to cause autism, dystonia, infantile spasms, and multiple kinds of epilepsy in varying levels. We have learned there are 600 known mutations of the SCN1A gene, but only a few of the SCN2A since it is a fairly new discovery. Both are very rare.
Just a quick update on me....
For those who have not heard, I will be going through with a double mastectomy on October 24th. This seems to be the best decision for myself and my family. Prayers that all goes smooth and well are much appreciated.
So, I guess that is all for my long winded update. Thank you to everyone for continued support!!!