Our journey with Matthew and epilepsy…
Today (Wednesday): We are five days away from Matthew’s surgery at CHOP. For some details, see: https://www.chop.edu/treatments/functional-hemispherotomy
Thursday: We continue the process of preparing Matthew. This morning we will let him know that he is having surgery on Monday, using a booklet and video (both prepared by CHOP).
Friday: I (Ron) take him to a CHOP campus for Covid testing. We also begin a bathing routine.
We continue a recent quarantine of Matthew to limit exposure to Covid.
Joan continues her training of me concerning the other members of our family who require care. And I will train Joan on a few things – such as the use of iPad for communication and some educational things for Matthew when he is ready for that.
While this is a scary thing for us, we are convinced the timing is right. In more ways than we can count, we see ways that we have been prepared for this time.
Our journey with Kari and epilepsy…
At this same time in which we are counting down toward the surgery for Matthew, we are counting the days in which Kari is seizure free! We are at day 10, which is quite remarkable given the countless number of seizures (often too many to count in a single day) she has experienced. This is day 13 on the ketogenic diet.
We are also counting calories. Ketogenic diets are popular these days. She is on it for seizure control. Kari’s diet is what is known as the Class Ketogenic Diet. It is 80% fat. Our challenge is to give her enough fat that she maintains and even gains some weight. She isn’t like most of us (at least I will speak for myself). She doesn’t need it to lose weight!
It was 15 days ago that we received a specific underlying diagnosis for Kari, thanks to the researchers at the Clinic for Special Children in Strasburg, PA. I’ve often said that if there is anyone in the entire world that can diagnose Kari, it is this group which is located just seven miles from our home!
Unfortunately, there is no cure or specific treatment for a RARS2 mutation. That said, within days of our learning of this, we were encouraged by a specialist in NYC to try the keto diet again for seizure control.
Kari’s disease was only discovered 5 years ago. Its potential was known since 2007, but it wasn’t linked to someone with it until 2016.
RARS2 is extremely rare. For those who wonder: 1) It is not a disease that shows up in our Anabaptist ethnicity. As far as is known, no one else in our ethnicity is even a carrier for this disease. 2) It appears that Kari (and her brother Ryan, died in 1994) are the only two known cases in the USA with a total of 23 in the world! 3) Yes, it is a genetic recessive condition. Joan and I are both carriers. 4) Our son Jeremy is not a carrier.
Counting on you
Counting on your prayers… And we know we won’t be disappointed. The Matthew Team is outstanding. What a group he and we have behind us.
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