We just returned from a trip with Luella to Gillette Children's Specialty Healthcare in St. Paul, MN. We have been seeing a doctor at the Mayo Clinic and she's been great. She's the one who initially suspected that Luella had Dravet Syndrome and ordered the genetic testing. We were happy with the Mayo Clinic but Jim has been doing a LOT of reading online and found out about a Dravet specialist in Chicago. We were debating whether or not to see Dr. Laux there when Jim found out about another Dravet specialist right here in Minnesota - in St. Paul. We were anxious to see if we could get an appointment with Dr. Wical. We were excited to find out that we could get in to see Dr. Wical AND in only 1 1/2 weeks!
Yesterday we got up super early and headed to St. Paul for Luella's appointment. Gillette Children's is a great place and we really loved Dr. Wical! We visited with her for about two hours and she had a lot more insight to Luella's Dravet diagnosis. She was pleased to see how well Luella is doing developmentally. There still is no way to know if or when Luella may start to regress or have developmental problems, but she did assure us that having Dravet did not mean that she would FOR SURE have those kinds of problems. In the past, the only way doctors were able to diagnose Dravet was just by seeing them so most of the early cases of Dravet were only the kids with severe developmental delays. With this relatively new genetic test, more and more children are being diagnosed and they have found some kids that do not have any developmental delays. That was reassuring and we continue to pray that Luella will continue to grow and develop normally.
I had already contacted the school here and a Early Childhood Special Needs teacher will be coming to our house monthly to meet with Luella and do an assessment of her development. Currently Luella is advanced if anything but this will be a way to catch things quickly if something should happen in the future. Dr. Wical also wants Luella to do a developmental psychology evaluation every six months.
Dr. Wical was over-all pretty happy with the current medications that Luella is on. We are going to stop the Keppra, which Jim and I couldn't be happier about. Keppra has caused Luella some behavioral problems and we feel it wasn't helping seizure control anyway so we are glad to be able to wean her off of that! We will be adding Carnitine - a supplement to help protect Luella's liver. Most seizure drugs are routed through the liver and several can cause liver damage so we are glad to add carnitine. We had gotten a new rescue med for seizures that won't stop since the Diastat hasn't helped the past few times we used it. The new medication is Midazolam and we give it with intra-nasal syringe. Dr. Wical told us to think about getting an actual needle and giving it in her muscle. There are times when shooting it up her nose might not work - if she'd have a bad cold or a nose bleed. Also the Midazolam really burns the inside of your nose. A needle would hurt for a second but it wouldn't have the lasting affect of the nasal route. I think I would feel comfortable giving Luella a shot so we will probably be doing that.
One thing we've read about, something that we don't really want to think about is SUDEP - Sudden Unexplained Death in Epilepsy. Dr. Wical asked us if we wanted to talk about that. She said some parents would rather not know. We wanted to hear what she had to say. SUDEP is similar to SIDS in that it usually happens while they are sleeping and they really don't know the cause. Kids with Dravet have about a 10% chance of SUDEP which was better than the 20% we had read about. One thing they do know is that kids with a certain heart condition are more likely to experience SUDEP so Dr. Wical has ordered Luella to wear a Holter monitor for 24 to 48 hours. A Holter monitor is a portable device that will record Luella's heart activity which will then be studied by a cardiologist. We pray that SUDEP is nothing we have to worry about!
We were so happy with our visit with Dr. Wical that we did decide to change doctors. Driving to St. Paul will be a little further than Mayo but we feel it is worth it.
A quick update on Luella herself - she has been taking Stiripentol since about August 10th. Stiripentol is not FDA approved and we had to have it imported from Europe. So far our insurance company has not agreed to pay for it but we are working on that! Dr. Wical even offered to call them on our behalf. Luella hasn't had a big seizure since August 1st. We think she may have had a couple very short ones (under a minute long) on the 10th and 14th but we aren't sure. So we feel like the Depakote and Stiripentol are really working well for her. One thing that is obvious is that the Stiripentol is making Luella much more tired. We've had to start adding a short morning nap again on some days. And she is VERY crabby! We are hoping that getting rid of the Keppra will help but the Stiripentol might be causing some of that too. We were told that the crabbiness from Stiripentol usually improves after being on the medicine awhile too so we are hoping for that!!
Again, we appreciate all your prayers! Thanks so much for praying for Luella and our family as we deal with all of this!