Follow up at Gillette

It's taken me awhile to get this written! Last Wednesday we took Luella to the cities to have a follow up appointment with Dr. Wical. My parents came the night before to watch the other kids and we left early in the morning for Gillette Children's in St. Paul. We were thankful that the winter weather hadn't hit yet and the drive went well.

Dr. Wical was very happy with how well Luella is doing. We are currently at 4 weeks without a seizure and hope to sail through the holidays without any problems! Luella does have some balance issues. Dr. Wical saw first hand how she falls down quite often. The stumbling could be a side effect of the medications or caused by Dravet itself. We are still in the process of getting Luella to her target dose of Clobazam. Dr. Wical said that it sometimes takes kids a little while to get used to the medication and then things improve. A month after Luella is at her target dose (which we will hit on Thursday) we will have physical therapy assessment to see if there is a need for ongoing physical therapy.

One thing that doesn't help Luella with her balance is the fact that she loves to walk on her tip toes. I had gotten Luella a pair of squeaky shoes when she first started walking. I decided to get her another pair to wear now. She loves to wear them and since you have to walk flat on your foot to make them squeak, she tends to walk better and is more stable when she wears them. An added bonus - I always know where she is!!

We are so thankful for how well Luella is doing. We know that there are so many kids with Dravet who aren't as lucky as Luella. We ask that as you pray for Luella that you also remember the many other families that are affected by this terrible disease. Thank you!

Now I need to get busy with my Christmas shopping!!

Thankful!

This Thanksgiving we have much to be thankful for!
We are thankful...

• That Luella has gone 3 weeks and counting without a seizure.
• For all the prayers for Luella and our family.
• That Cigna and Berkley have agreed to cover Luella's stiripentol - her awesome new seizure med that is imported from Europe and quite costly (but very cost effective when you consider the medical costs of Luella's uncontrolled seizures).  We just got the call yesterday letting us know!
• For all our family and friends who donated to the Dravet Syndrome Foundation in honor of Luella!  THANK YOU!  

Of course we are also thankful for the health of our other three children, our home and all the other many blessings that our Father in Heaven has given us. We hope you all had a very blessed Thanksgiving!

Give a Gift

November happens to be Epilepsy Awareness month. We think Epilepsy in general needs attention, but more specifically we want a cure for Dravet Syndrome!! There is currently a fundraising effort to benefit the Dravet Syndrome Foundation (DSF) and two anonymous donors have agreed to match funds up to $10,000 until midnight November 20th. That's $20,000 to benefit Dravet research!!

We hope and pray for a cure for Luella and the DSF is working towards that. Please, if you are able to make any kind of a donation - no matter the size - please go here and make a donation in honor of Luella and the cure we pray for!

Donation Website:
http://www.crowdrise.com/piperssong

Thank you so much for your continued prayers and support! Luella has gone a week now without a seizure. We pray that is the start of another record run... let's beat 10 weeks!!


More about the Dravet Syndrome Foundation (from their website)
http://www.dravetfoundation.org/
"The Dravet Syndrome Foundation is a volunteer-based, non-profit organization dedicated to aggressively raising research funds for Dravet syndrome, a rare and catastrophic form of epilepsy beginning in childhood, and related conditions. By offering research grants for syndrome-specific research with a novel approach, the DSF can move researchers and the medical community forward to find better treatments and a cure while assisting afflicted individuals and their families.

The Dravet Syndrome Foundation has awarded over $800,000 in research grants for Dravet-specific research - more than any other nonprofit organization. We have also awarded over $15,000 to families through our International Patient Assistance Grant Program."

Tonic Clonic (Grand Mal) This Morning

Luella ended up having another seizure Saturday morning around 9:30AM. Jim was holding her when it started and it was a Tonic Clonic (aka Grand Mal) seizure - her whole body was convulsing. We ended up giving her two doses of the Midazolam and I rushed her to the ER. Thankfully the meds did stop the seizure in under 6 minutes but we still needed her in the ER to be watched for respiratory distress (after having that much medicine).

In the ER, they took a little blood, did an influenza test and a strep test. The tests came back and Luella DOES have strep! A week ago Thursday they did a strep test and that one was negative. As much as I hate taking her to the ER, I'm glad we ended up there today so we could figure out what was going on! She is on antibiotics now and hopefully in a couple days she will be feeling much better and we can get beyond these seizures once again!

Thank you to all of you who continually pray for Luella!!

Another Seizure

Luella had another seizure this afternoon (Friday). I was getting supper ready and Luella had just walked into the playroom. I was just about to go peek at her to see what she was doing and she let out a loud scream and was crying hysterically. I ran to her and she was just sitting there crying so hard. I've NEVER heard her cry like that! I was so scared, I didn't know what happened to her. I thought she was hurt. I picked her up and then it was apparent that she was seizing. I laid her down then grabbed the phone to call Jim and got her meds. I gave her the Midazolam immediately. It didn't appear to be working quickly and she was turning blue - not breathing well at all. I quickly grabbed my coat and hers and the diaper bag and headed to the van.  As I was throwing the bags in the van Luella let out a sigh and then coughed a couple times. I looked at her and she was just closing her eyes. Jim pulled in the garage then and we took Luella inside.

Her seizure did stop after 6 - 8 minutes. It's hard to know if the Midazolam is stopping these seizures or if the Stiripentol is making them that short. We were able to talk to the doctor today and we decided to add Clobazam to Luella's drug list. Clobazam, thankfully just got FDA approval within the last few weeks. It won't be available in the US until after January so we will have to import it for 2 - 3 months. Clobazam, Depakote and Stiripentol are three drugs that are most often given to Dravet kids and they are supposed to work well together.

Luella has been teething as I mentioned before, but also has a cold - runny nose and just yesterday started coughing now too. Being sick is not a good thing when you have Dravet! We are hoping this new combination of drugs will help get us back in the running to beat our record of 10 weeks without a seizure!!

What a pose! Luella is ready for candy!

Luella was our little Lady "Love" Bug for Halloween. Her baby doll even dressed to match!

Our Seizure-Free Run Ended Today

Our 10 week run with out seizures ended this afternoon (Thursday). Luella was playing with Grandma Johnson and she just collapsed. She had the labored breathing, slightly blotchy skin, and little eye twitches. We tried the new rescue med we've had for awhile (midazolam). We give it intra-nasally - as a mist up her nose. It really didn't seem to bring her out of it so Jim rushed her to the ER. I couldn't lift her since I'm still recovering from gallbladder surgery. My father-in-law brought me to the ER after I had a chance to get shoes on, etc... When I arrived Luella's seizure had stopped. They didn't give her anything more in the ER. It took about 10 minutes for the midazolam to work. They did do a quick strep test and a urine test to see if she had a UTI. Everything came back fine so we were able to leave within an hour. After supper tonight Luella was already back to her normal, goofy self!

Luella is teething and has been having slight fevers off and on for the past week. We had also been trying to cut back on her meds to eliminate some of the side effects she has. We are now going back up to the full dose and hope to avoid any more seizures.

In the past a seizure like this would have likely gone to status (unstoppable) and she would have been air lifted to Sanford Children's. I know the stiripentol is helping Luella and we hope we can go another 10 weeks (or more) without a seizure!

In positive news... Luella turned TWO last Friday. She had her "Owl" birthday party on Sunday and had such a fun day. She was in such a happy, good mood. It was so fun to see her enjoying herself. Here are a few pictures from her party.

Luella and her Owl cake (made by mommy).

Make a wish birthday girl!

Luella loved the card we got for her - It sings "Happy Birthday to you..."

Daddy is SO proud! He had to get her this purple light saber!

A New Record!

Today we are on day 52 with ZERO seizures... that is the LONGEST we have EVER gone since Luella's first seizure on August 9, 2010. There were a couple long stretches without seizures early on but then it was mostly downhill from there. We are so happy to report this amazing milestone!

We are talking to our doctor about possibly lowering Luella's evening Depakote dose. Typically Stiripentol amplifies the effectiveness of the Depakote and most Dravet kids lower their Depakote dose once they are on Stiripentol. We hadn't done that yet and Luella's sleepiness and continued lack of appetite are prompting us to want to try this. I weighed Luella yesterday and she has lost about two pounds since starting the Stiripentol. We are hoping that cutting down the Depakote will help the sleepiness and appetite issues while still giving us GREAT seizure control.

Thank you for your continued prayers and please pray that these changes will help.

Blessings

God has blessed us by giving us 6+ weeks without a seizure!! The last two seizures in mid-August were so mild we were hardly sure she even had a seizure. And we are almost two months now since her last major seizure on August 1st! God is definitely answering our prayers!

The drugs are really working well. A combination of Depakote and Stiripentol is doing wonders! The Stiripentol is imported from Europe and is not FDA approved. We are STILL working with insurance to try to get it covered. Please pray that they will see the need for this important drug and pay for it for us! We have also been able to wean Luella off of Keppra. We felt this drug wasn't really helping  and Luella had some behavioral side effects so we are glad to be done with that as of September 22.

As far as the side effects of the Stiripentol... we are still dealing with Luella's lack of appetite and tiredness. I think the crankiness has improved some (maybe from getting off the Keppra). It's hard to see Luella turn down her favorite food of macaroni and cheese. She won't even eat a cookie! We've read that it can take some time for the side effects to lessen. I hate to give up a drug that works so well at controlling her seizures so we pray these side effects will go away. In the meantime I have some PediSure on hand for those days when she just won't eat.

Luella's iron levels have increased. Her iron levels were lower for awhile and I believe taking the iron supplement has helped. I'm not sure if the low iron caused the night-time jerking and twitching, but we have seen an improvement there as well and she is sleeping better.

We have also been blessed with a couple of volunteers to help watch Luella on the days I go to ECFE with Ryker. We can't possibly thank you ladies enough!! We could still use a "regular" to help on Tuesdays when I have Bible study. What we have been doing is that Jim works from home on those mornings so he is here and available in case Luella would have problems. I think Luella really enjoys her one-on-one play time! Jim hears lots of giggles from Luella on those days. If you are interested in watching Luella, please let me know.

For all of my Coffee Break (Bible study) friends, I want to thank you for all the prayers. I'm finding it  really hard to make it through a Bible study without crying these past two weeks. I'm not sure why... I think I just feel all the prayers and love poured out for Luella and our family and I just have a hard  time containing my emotions. The first couple weeks after Luella's diagnosis I had a really hard time talking to anyone. I AM doing better despite what you have seen. We have so much to be thankful for.

Luella had her initial evaluation done by the Early Intervention Teacher at the school. Luella scored at or above for her age in every area. She also had a hearing screen done yesterday and passed that as well. We are so thankful for the school's involvement and their willingness to help monitor Luella. We pray that Luella will be spared the regression and developmental delays that so many kids with Dravet experience!

We are so thankful for all of your prayers. We ask for your continued prayers and prayers specifically for insurance coverage and for the Stiripentol side effects to go away. Thank you so much!

Wanted: Babysitter

Next week I will be taking Ryker to ECFE at the school again. It's one day a week - Thursdays from 8:45 - 10:15. They do have sibling care available but we are not going to be taking Luella there. We are still nervous about leaving Luella with someone for two reasons:

1. Luella’s seizures are usually subtle. So in a roomful of kids it’d be easy for someone to not notice right away that she’s having a seizure.

2. With lots of other kids there Luella could easily get exposed to something. Kids with Dravet Syndrome tend to have somewhat weakened immune systems. On top of this any type of illness has a good chance of causing a seizure, so we are trying to avoid getting her exposed unnecessarily.

Also, in October my women's Bible Study starts again. That will be on Tuesdays from 9:30 - 11:00. Ryker will go with me because they have a children's program too that he goes to.

What we are looking for is a volunteer to watch Luella at our home while Jim is here working from home on the days I'm gone with Ryker. We feel more comfortable with someone watching Luella one-on-one and also Jim is here if something were to happen.

If you or someone you know would want to help us out, please let me know. You do not have to commit to every week, even once a month or whatever you can would be a great help to us. Luella has really never been away from either Jim or I and since I stay at home with the kids these two chances to get out and do something for Ryker and myself really help me stay sane!! :-)

Please call or email me if you can help - heather.m.johnson@gmail.com.

Holter Monitor and a Rough Night

Luella got her Holter monitor Friday morning. It was great because we were able to get it right here in town. She didn't mind the five patches on her chest too much. I had her wear a onesie so she couldn't get under her shirt to pull them off. She didn't appear to be bothered by it much all day. We just clipped the little box on the back of her pants during the day. At bedtime I found a pair of pants with a cargo pocket that was the perfect size to hold the box!

About 8:45 I was getting Luella ready for bed. She was laying on the changing table while I hooked her up to the pulse ox monitor and she was pointing in her mouth and saying something I couldn't understand. Within a minute she gagged and started throwing up. Now lately Luella hasn't had much of an appetite - she usually just picks at her food. This is a side effect of the Stiripentol that we hope will get better as she gets more used to the medicine. Well, last night I made BBQs and Luella ate A LOT!! So, unfortunately she had a lot to vomit!! Luckily a towel caught the mess and her patches and clothes stayed clean.

She was asleep by 9:30 but woke up again at 10:00 crying and vomited a little more. She woke up a few more times and coughed a little bit but didn't have anything more to vomit.

We aren't really sure why she got sick - maybe because she ate SO MUCH at supper, it could be a side effect of the Carnitine she started Thursday night (it can cause an upset stomache and vomiting), or maybe she has the stomache flu - which would be strange since nobody else has it and she really doesn't get out much to be exposed.

This morning she woke up around 7:30 and I let her eat a few saltine crackers and when she saw the kids eating cereal she asked for some Cheerios which she ate dry. I was able to give her her daily medicine (minus the Carnitine just in case) and everything has stayed down! I was a little concerned last night when she was sick that she might have vomited her seizure meds. Jim assured me that they are absorbed fairly quickly and it had been about 3 hours since she had her meds at supper.

Luella does have a runny nose now today and has been sleeping quite a bit so maybe she does have a bug of some sort. I guess this will be the test for how well her seizure meds are working. Luella usually has a seizure whenever she is sick. So please pray that she can get over whatever she has now and not have a seizure!!

So not a great 24 hours to wear a Holter monitor... we'll have to see if the doctor thinks it would be better for Luella to try it again sometime when she is feeling more "normal". I know when she was sick last night her heart rate was over 150 for a little bit.

Luella didn't seemed to be bothered much by wearing the Holter monitor. The recording device was clipped to the back of her pants.

Ready for bed! I found a pair of pants with a cargo pocket on the side that the box fit into perfectly.

 

Just thought I'd throw in this little video of Luella playing with LEGOs yesterday. She LOVES Legos and not just the big Quatro or Duplo blocks, but the teeny tiny normal Legos! She is able to put them together all on her own.  She made the creation in this video all on her own! We are finding ourselves taking more videos of Luella lately. We are so proud of where she is developmentally. I can hardly stand the thought that at some point she may start to regress and struggle with things... I'm taking in every little thing now!

Blog about Luella

I decided to start putting all my updates about Luella on a blog. We've had so many people ask about how Luella is doing and I wanted a way for people to keep updated without me having to email all the time or post on facebook. So if you want to keep up to date on Luella you can follow Little Luella's blog and read about it here.

I will probably go back and add some older blog entries about things that have happened in the past. So if you are interested to read Luella's history you can check that out as I have time to add more.

And please continue to pray for Luella and our family!

 

Appointment at Gillette Children's

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!

Mayo Trip

Things went well at Mayo. We just got home yesterday around 4:30pm. We were able to meet with a Dietitian and get some more details about the Ketogenic diet. We don't currently have plans to start the diet but it was good to talk to the Dietitian and find out more about how they do the diet at Mayo. Our current plan is to focus more on finding the right drug for Luella. She just started Stiripentol this morning. Stiripentol is one of the drugs that is supposed to work well for Dravet kids. Unfortunately it isn't currently FDA approved so it's not as easy to get. We had to order it from a pharmacy in New York and we are currently working with Insurance to see if they will cover it. There is also one other drug that we could add - Clobazam. Depakote, Stiripentol and Clobazam together are supposed to be great. We are just starting with adding the Stiripentol to her Depakote. She is also still taking Keppra! Our house looks like a drug store!!

At Mayo on Monday, Luella didn't particularly enjoy getting the leads for the EEG placed - they actually glued them to her head! She cried so hard!! Once they were placed and her head was wrapped up she was fine. They gave us a lot of slack in the wiring and we were able to move around pretty well in our room. The EEG was mostly to determine if Luella's night time twitches were small seizures and to see if she was having absence seizures during the day. Fortunately she is NOT having night time seizures or absence seizures. We still aren't sure why she is twitching so much at night. Her iron levels were lower so in addition to all her other meds she is taking an iron supplement. Low iron can cause restlessness. It can take up to 3 months to build up iron and we've only been on it about a month so we'll see if things start to improve. We were just relieved she wasn't having seizures!

Taking the leads for the EEG off wasn't exactly fun either. Since they were glued on they had to use acetone to dissolve the glue. Stinky stuff!! (Think finger nail polish remover.) We washed her hair there and I scrubbed it again at home. She still has some glue on her scalp but she is tired of me picking on her so we'll work on it later. She has red marks all over her forehead still from the glue/leads.

All in all it was a good visit. We got to talk more with Dr. Wong-Kisiel. It's great how she really takes time to answer all our questions. 

Thanks again for all your prayers and support. We really appreciate everything!

Getting leads placed.

Playing with mommy.

Still happy!

Wrapping a doll's head like her "hat".

Playing with daddy.

Bad hair day!!

Another Big Seizure and Hospital Stay

On Monday morning I posted on facebook that Luella made it the whole month of July with only the ONE seizure on the way home from the Black Hills. About an hour after that post (on Monday), Luella had another seizure. It stopped on its own and she slept for about 30 minutes. When she woke up she started seizing again (around 2pm on Monday). It did not stop with Diastat so we rushed to the ER again. It took awhile in Luverne to get her seizure under control. Then we took the helicopter (4th time) to Sanford Children's in Sioux Falls. Luella was doing well there, mostly sleeping due to all the drugs. Around 8pm as I was holding her she stopped breathing. A team of doctors and nurses were there quickly and got her stimulated enough that she started breathing again. They kept the oxygen on her and noticed her breathing increasing and heart rate going up. Her eyes were closed and she was not responding. She was seizing again. They gave her more meds and got it to stop. It was pretty scary. I think there were about 8 people in her room and several more standing out in the hall. We probably would have been able to come home on Tuesday but because of the seizure Monday night they wanted us to stay longer so we were there 2 nights and came home this morning (Wednesday) right before lunch.

Luella's seizure was due to a high fever this time. Ryker came down with a fever on Friday a even vomited a few times Saturday and Sunday. Luella woke up with a fever on Monday morning. I had been giving her Tylenol and Motrin but it wasn't enough to keep the fever down. When Luella stopped breathing in the hospital she had a fever of 103. She hadn't had a fever before that in the hospital so they weren't very aggressive with the Tylenol and Motrin. I was mad at myself for not being more persistent about getting her some medicine. The doctor there said they "dropped the ball" too. :(

I was completely exhausted and took a nap after lunch today. Monday night I only got a couple hours of sleep, last night was better. Because of Luella's breathing scare, both our Mayo doctor and the doctor at Sanford thought it would be good for us to have a home pulse oximeter to have on Luella when she sleeps - it tells us her oxygen level and heart rate. I put it on her at bedtime tonight and she only mildly complained. I think she probably thought, "Well, this is better than all of the stuff I was hooked up to in the hospital!" The Sanford Home Medical people were great in getting it all set up for us today!! Hopefully that will give me a little more peace of mind at night time.

We are fighting hard for Luella and trying to get her the best possible care. Jim has been able to do some more reading about Dravet and we are figuring out our next steps. We'll be heading to Mayo on Monday for Luella's 24 hour study and hope to find out more from that. We want to thank you all again for your continued prayers!

Trying to Stay Positive...

I wanted to thank everyone again for all the prayers!! I'm feeling much better about all of this - I can finally talk without breaking down - maybe a few tears but I can still carry on a conversation! We have a lot of unknowns at this point but I'm trying to focus on the positive. Right now Luella seems so normal, I would even say ahead of some developmental milestones. We laugh at her when daddy does something she doesn't like and she runs to mommy and says "Da-da naughty", or when she works so hard at putting a couple tinker toys together then proudly holds it up and says, "Got it!" Or when I ask her what her name is and she replies "Luella!" Or when I ask for a hug and she wraps her little arms around my neck and pats my back. We are soaking it all in and praying that we don't see all that begin to fade away at some point. (Luella turned 21 months on July 21.)

A lot of the really bad Dravet cases out there involve kids who have MANY seizures a day. Luella's new drug, Depakote, seems to be working really well. Next week I hope I can report that we went the entire month of July with only that ONE seizure on the way home from the Black Hills. That is awesome!!

One thing I am concerned about, is her twitching and jerking all night long. It has gotten bad. Our Mayo Dr. thought it might simply be because of her low iron causing Restless Legs. I hoping that's all it is but I'm concerned that it could be myoclonic seizures or something. It's more than just her legs that twitch. I don't know how the poor girl wakes up looking rested. I haven't been getting much sleep because I'm always watching the video monitor. Then one night last week as I was checking on Ryker before going to bed I noticed that his feet were constantly twitching too. I think I stood there for 10 minutes and didn't see his feet be still for more than 30 seconds. Maybe it is just low iron? Since then I haven't seen him do it as much as that one night. I just don't know. I'm taking him in next week to get his iron levels tested too. Luella has been on an iron supplement for 2 weeks, but it can take like 3 months for iron to build up again.

On August 8th we'll be back at Mayo. Luella will have a 24 hour EEG study. We are hoping to find out what is going on when she is sleeping.

I can't thank you enough for all the prayers! Keep them coming (I know you will)!!

A Diagnosis... Not Good

Just wanted to let you all know we got some news from Luella's doctor at Mayo on Monday evening. All of the outstanding genetics tests have come back and we found out that Luella has Dravet Syndrome. This is not exactly good news and I'm having a hard time with it. Dravet involves a SCN1A gene mutation and it is a spectrum disorder - meaning that there are very mild cases and very severe cases and many in-between. We don't know yet where Luella will end up on this spectrum. We do know it's not the mildest of cases and probably not the most severe (we hope). 

 

One of the hardest parts of all of this is now knowing that Luella will not simply outgrow her seizures. My hopes of having a "normal" life again are fading. Kids with Dravet usually have their first seizure before age one - usually because of a fever or illness (illness in Luella's case) and the seizures tend to get worse as time goes on. There is a whole list of secondary conditions that Dravet kids tend to have also and Luella has several - problems with automatic body functions such as temperature regulation, frequent UTIs, sleep disturbances, slow tooth eruption, and grinding teeth. Dravet kids sometimes see a regression of development after age 2 or 3 and some kids are just fine. I need to not think about the worse case scenario but we have a lot of questions as to what the future now holds for our little Luella.

 

www.Dravet.org has some great information but it also has lots of sad things to read. Last night I was up late reading things I probably shouldn't have and then had a awful time sleeping. Luella didn't sleep well - she was constantly tossing and turning and I was watching it all on her video monitor, scared that she was going to have a seizure or something. Luella has been twitching A LOT in her sleep and it has gotten worse. We just returned from a weekend trip to the Black Hills and Luella slept with me several of the mornings when she woke early and I felt every single one of those twitches! She will be doing a 24hr EEG at Mayo in August so they can see what she is doing and find out what is happening.

 

As far as the Ketogenic Diet goes - we will probably hold off starting that for now. We want to see what Luella's new "normal" is before starting and then we have questions as to how much the diet can help her now with the Dravet diagnosis. 

 

My last email was so positive about going two weeks without a seizure, now I feel like everything is upside down. On our way home on Sunday night Luella did have another seizure - so we made it 2 1/2 weeks, which is still good news - the Depakote seems to be helping. The seizure on Sunday was probably due to the heat.

 

I'm sorry I won't be able to talk about all of this for awhile. I'm having a really hard time with it - can't really say "Dravet" with out breaking down. So if you see me please don't ask me any more details for now. Hopefully I'll be able to talk more later. I know that I just need to trust in the Lord and know that He will do what is best for Luella - but it is hard. I love my baby girl so much!! Please pray for all of us.

Luella is doing GREAT!

It's not often I get to send a positive email about how Luella is doing, but things are going GREAT! We are now TWO WEEKS SEIZURE FREE. We haven't gone this long since early March. Back on March 9th Luella's total seizure count was at 8, two weeks ago when she had her last seizure it was at number 43! She had been having 1 to 2 seizures a week and leading up the the big seizure two weeks ago - she had seizures on Friday, Saturday, Sunday, Tuesday and Wednesday. So to go TWO WEEKS without a seizure is a BIG deal! Luella started Depakote in the hospital two weeks ago and it appears to be the right drug for her! We are SO thankful to finally have found something that works for her. And we pray it continues to work!! 

 

We had planned on starting Luella on the Ketogenic Diet on July 25th, that date got pushed back to August 8th. Depending on how Luella does over the next week - if she continues to be seizure-free - we might cancel the start of the diet and just see how the Depakote works. The diet isn't easy and we were even contemplating waiting awhile to make sure Luella could be successful on the diet. So... we'll see how the next week goes!! 

 

Thanks for all your continued prayers!!