Random stuff

Last Wednesday the Family Service Coordinator from Infant/Toddler Services came back and brought the woman who will be Lizzie's therapist. She is an occupational therapist but will work on a variety of things with Lizzie. They went over the plan of service (very similar to an IEP, for those of you in education) and we set a tentative schedule for the therapist to come work with Lizzie. She'll be here again to see Lizzie next week and then she'll come about once a month. She can come more often if we discover that Lizzie needs more time with her. Right now she will plan to work on things like rolling from back to front and sitting up.

Later that same day we had Lizzie's 6-month checkup with her pediatrician. Not a lot to report from that appointment; just that Dr. C said she's looking good. She was 13 lb 2 oz, so she's still gaining weight pretty well. We'll just keep doing what we're doing!

Lizzie will see Dr. K, the neurologist, in mid-January. It's hard to wait for those appointments. I'm hoping they will have more information for us when we go. We did get some good news--they are moving the Epilepsy Clinic to Children's Mercy South, which is much closer to where we live. It will save us from driving downtown, which can be a real mess during the morning rush hour.

Lizzie is now eating rice cereal and LOVES it. She opens her mouth like a baby bird every time she sees the spoon coming her way. I'll try oatmeal with her next, but I'm sure she'll be equally enthusiastic about that.

We are busy getting ready for Christmas around here. Most of my shopping is finished, but now I need to start wrapping. All four of the girls were in the Christmas program at church on Sunday. We had a star, an angel, Mary, and baby Jesus. Winter break starts next Wednesday the 21st and I'm looking forward to the time away from work. Merry Christmas!

Being thankful

Today I want to make a list of some of the things I am thankful for in relation to Lizzie's epilepsy diagnosis.

I am thankful that right now Lizzie's medications are working for her and she hasn't had any seizures recently.

I'm thankful that Lizzie isn't currently showing the developmental delays that the doctors said she would. I know with her diagnosis there's a possibility that she might not always be doing as well as she is right now, so I'm grateful that we have her at her best here and now.

I'm thankful for the many families from our church who have supported us by bringing dinners. Some families have even done it more than once. We are so lucky to have so many people taking care of us when we have so many other things we're trying to take care of.

I'm thankful that we have a friend who is a pharmacist and who has been putting Lizzie's medications (which are prescribed to us in pill form) into a liquid compound so they're easier for us to give her.

I am thankful for all the people who have contributed to Lizzie's Fund. Our church set up the fund to help us with medical bills, but people we don't even know have made contributions.

I'm thankful for Children's Mercy Hospital and the expertise of all Lizzie's doctors there.

I'm thankful that we know someone who is a chiropractor and who has offered hyperbaric oxygen treatments at her office for Lizzie. We haven't taken her up on it yet as we're still doing a little research and talking with her doctor, but we appreciate the offer.

I'm thankful for the free childcare that my mom provides us every day when Tom and I go to work. I am also thankful for the free childcare that many other people have offered us so that Tom and I can get errands done or have some time to ourselves.

I'm thankful for the literally thousands of people who have prayed for Lizzie or sent her positive thoughts. We believe that the prayers are working and are a big part of the reason she's doing so well these days.

I am thankful that I have so many things to be thankful for. Happy Thanksgiving from our family to you and yours.

Recent appointments

Last Wednesday, Lizzie had a visit from two women from our county's Infant/Toddler Services division. They were there to evaluate her for physical and occupational therapy needs. They watched Lizzie and played with her a little, asked me lots of questions, and filled out their paperwork. They both thought she looked like she was doing really well and commented that the babies they're used to seeing don't usually look so good.
By virtue of Lizzie's diagnosis, she qualifies for therapy, so the plan is for them to take the information they gathered at their visit and present her case to the rest of the staff. Then a therapist will be assigned and they'll come back out to our house in early December for us to meet the therapist and set a schedule for her visits. For the time being, Lizzie will just get some maintenance therapy to make sure that she continues developing at the current rate. If she does start to have some developmental delays, the therapist will be able to notice right away and start working with her to help with those. In six months, we will all sit down together and re-evaluate where she's at to see if any changes need to be made to the plan.
Today, we had another visit with a dietitian at Children's Mercy to evaluate how Lizzie's weight gain is coming along. She weighs 12 lb 9 oz, which they calculated to mean she gained about 20 grams a day since her last appointment. The goal they had for her was to gain between 16 and 24 grams a day, so she landed right smack dab in the middle of that. Her weight now puts her on the growth chart at the 3rd percentile. They were pleased with how she's looking and said to keep doing what we're doing. They asked if she had started solid foods yet, but Lizzie's pediatrician will probably talk to us about those at her six-month checkup in early December. We will meet with the dietitian again in January.

News, but not really

Thursday, Dr. K called to say that the genetic test they ran on Lizzie came back with a "benign variant" on the SCN1A gene. He said it was unclear whether this variant is what's causing her seizures. In order to clarify, he wants to test Tom and I to see if we also have the variant on that gene. He said we could be tested at Lizzie's next clinic appointment, which is supposed to be in January (still waiting for them to call us to schedule a date). Potentially, this could be important, because it could give a name to whatever syndrome Lizzie has, which would give us a better idea of how to treat it and what kind of prognosis to expect. All I know right now is that the SCN1A gene is linked to many different types of seizure disorders, depending on what kind of mutation happens and where on the gene it's located. However, since Dr. K isn't in any hurry to test Tom and I, and once he does I assume it will be another 6+ weeks before we get the results, it's going to be a while before we have any more information than that.

November is National Epilepsy Awareness month. Visit www.epilepsyfoundation.org to "Get Seizure Smart" and test your knowledge of seizures, learn more about seizure first aid, and find out what you can do to support those who have been diagnosed with epilepsy.

On a related note, the color for the epilepsy awareness ribbon is lavender. I went to Joann's and bought a roll of ribbon to make some pins. They're nothing fancy, but if you want a ribbon, let me know!

Good news

I decided to play dumb and pretend that I had never heard the EEG tech tell us it would be three business days before we got results. I called the neurology clinic today and left a message for the nurses asking if the results from Lizzie's EEG were in yet.

Several hours later, Dr. K himself called me. The first thing he asked was whether we were noticing any seizures, and I told him no. He said that was good, and then said that he had very good news--that Lizzie did not show any seizure activity on the EEG on Monday!

He did say that the EEG showed some slowing of her brain waves on the right side and that sometimes that's due to a structural abnormality, although he pointed out that her MRI didn't show any abnormalities. Basically he just indicated that they would keep an eye on that to see if further testing was needed, but he didn't seem terribly concerned about it.

Dr. K will draw blood from Lizzie at her next appointment in order to do a genetic test for a very rare type of epilepsy that is influenced by Vitamin B6. He also said that they are still waiting to get the results back for the genetic test for Dravet syndrome and they will let us know when that comes in.

The doctor said to keep doing what we're doing with the Keppra, the B6, and the folinic acid, and we don't need to take Lizzie back to see him until January. He told us to call sooner if she starts having more seizures again.

Obviously we're very happy that the news today was good! We will continue with the medicines she's on, and we will continue with the prayers, because they're definitely helping! Many, many thanks to everyone for your support and prayers. We'll keep you posted!

Long day

We got Lizzie up at 4 AM in order to sleep-deprive her for her 7:30 EEG. They want the patient sleep-deprived for a couple of reasons. First, because lack of sleep stresses a person, and when someone is stressed, they're more likely to have seizures. Second, they like to get brain waves both when the person is awake and asleep; if the patient is sleep-deprived they'll hopefully fall asleep while on the EEG.

Lizzie did fine for the first hour and a half. We talked to her and played a Baby Einstein video, thinking maybe the music would help. By the time we were approaching two hours awake, she was definitely tired and ready to sleep. We used a cool wet washcloth to keep her awake for a while, which of course she wasn't happy about. Finally I took her pajamas off and carried her around in her diaper. Poor baby was very unhappy; she just wanted to fall asleep. When it was time to go we got her in the carseat and she tried to go to sleep again. I rode in the backseat with her so I could keep her awake. I used the washcloth some more, but eventually even that stopped working. I took off her socks and tickled her feet and Tom opened the car windows to let the cold outside air in. It was a constant battle to try to keep her awake all the way downtown. She was so fussy!

When we got there, the EEG tech decided to use a paste to attach the electrodes to Lizzie's head instead of the nasty "super glue" stuff they used the last two times. It's not really super glue, but it smells awful and it's a really strong adhesive. It has to be removed at the end of the EEG with an equally foul-smelling solution, and it still leaves bits of dried glue in her hair for a long time afterward. The tech told us that they're supposed to use the glue for patients under 2 because those ages move around a lot more and the electrodes have a much higher chance of getting knocked away from where they're originally placed. However, she said she would give the paste a try with Lizzie this time, for which we were grateful. The tech got Lizzie all hooked up and started the EEG. After a couple of minutes she said it was okay to let Lizzie fall asleep. We let her sleep about 15 minutes, and then we woke her up and they flashed strobe lights at her. Then they recorded about five more minutes of awake time, and we were done. Removal of the electrodes was MUCH faster and simpler this time around without the glue.

The tech said it would probably be three business days before we heard anything from Dr. K about the results, so now we just wait for Thursday. The waiting is hard.

Nutrition

Lizzie has been slow to gain weight since she was born. I've been nursing her when I'm with her and pumping at work so I can leave bottles of breastmilk for her when I'm not home. She has a good appetite, but for whatever reason she's not putting on weight very quickly. When she was in the hospital, the neurologist attributed the slow gain to the fact that she'd probably been having small, unnoticeable seizures for a long time.

We had an appointment on Tuesday with Nutrition at Children's Mercy. We met with a registered dietitian, who told us that they want Lizzie to be gaining 19-24 grams a day. (Her pattern so far has been to gain about 13 grams a day.) So the plan to try to get her to put on a little more weight is that we will add a teaspoon and a half of formula to the bottles of breastmilk that she gets while I'm at work--basically that just increases the calorie content of the milk a bit. When I'm at home and feeding her myself, we don't have to give her anything extra. We'll meet with the dietitian again right before Thanksgiving to see what kind of progress Lizzie is making.

Apparently I'm making skim milk instead of whole. :) Seriously though, I've nursed all four of the girls now, and all four were a little slow to put on weight the first few weeks, but then after that the older three did fine. I wish we didn't have to give Lizzie the extra formula, but obviously she needs it. I want to do what's best for her.

Lizzie still seems to us to be doing well. Last night she was laughing when Tom tickled her. She's very alert and likes to watch everything going on around her. She especially likes to watch her big sisters, and she follows what the dog and the cat are doing. We will continue to pray for good results on her EEG coming up on Monday!

Update on doctor visits

This has been a busy week for doctor's appointments! Tuesday the 4th we saw the gastroenterologist because, since birth, Lizzie has been gaining weight very slowly. Our pediatrician referred us to the GI a while back, before she was admitted to the hospital. The neurologist at Children's Mercy thought it was likely that she's been having seizures for quite some time now; if she was burning calories having low-level seizures, it would have an effect on her weight. However, we decided to go ahead and keep the GI appointment just to rule out anything else. We didn't learn much that we didn't already know; basically the GI doc set up a meeting with Nutrition for us and said we'd wait and see what Lizzie's neurologist said later in the week.

Thursday the 6th we had Lizzie's 4-month checkup with her pediatrician and an appointment with the epilepsy clinic at Children's Mercy. At the pediatrician appointment, the doctor noticed a "click" in Lizzie's left hip when she was doing her exam. She said they would need an ultrasound to check it out. She tried to set up an appointment for later Thursday when we would already be downtown at Children's Mercy, but no luck. They tried Children's Mercy South and got us an appointment there for midafternoon.

Off we went to the epilepsy clinic. Lizzie was scheduled to see her doctor there, Dr. K. He will be her doctor from now on, but he was not someone we had met when she was in the hospital. He came in and discussed several things with us, as follows:

Bad news: Dr. K had looked at Lizzie's EEGs from when she was hospitalized and said that they didn't look good. On the second one, in particular, he said she wasn't even showing continuous brain activity. I asked what that meant, and he said that was consistent with very severe brain abnormalities and high degree of developmental delays. He said it looked more like the EEG of a premature infant instead of a three-and-a-half-month-old infant.

Good news: All of Lizzie's test results have come back normal. They have tested her blood and spinal fluid and nothing is out of the ordinary. In her genetic tests, they looked for deletions or duplications of any genes, which they did not find. This leads us to...

Bad news: We still don't have a reason for Lizzie's condition. Since all her tests were normal, nobody knows why she's having seizures. This is frustrating, to say the least.

Good news: We told Dr. K that Lizzie has not had any major seizures for a while now. She seems to be doing fine developmentally, as far as we can tell. She smiles and laughs; she coos; she's trying to roll over (and getting pretty close to doing it); she follows us with her eyes and turns her head to track us. Dr. K said that, while all of that is good, at four months old it's more difficult to notice developmental delays because infants don't do all that much at that age. Then he examined Lizzie and he did agree that she seems to be doing pretty well. He said that she has good muscle tone and seemed surprised that she did not look like her EEG suggested she should look. He was expecting a lethargic little baby just laying there, but she kicked and yelled and was quite active. Because she was mad at him while he was doing the exam, we didn't get to show him how she smiles or tracks us, but he took our word for it.

So this is the plan from here. . . Dr. K ordered another EEG, which will be on the 17th. If it looks much better than the ones she had while she was in the hospital, he will order a genetic test to check to see if the Vitamin B6 is the reason for the improvement. If it does not look better, he will want to see her more frequently. He also wrote a referral for Lizzie to get physical and occupational therapy. He said right now PT might not do much with her because her muscle tone is good, but he wanted her to go ahead and get started with it. Also, he increased her dose of Keppra slightly and continued her on the B6 and folinic acid. Lizzie will see someone from the Nutrition department on the 11th to see if there's anything else we can be doing to help her gain weight.

Then we left and went to Children's Mercy South for the ultrasound appointment on Lizzie's hip. She was a perfect angel for the ultrasound; she just laid on her back and looked up at the mobile on the ceiling the whole time. They did both hips and sent the records over to the pediatrician's office. Late in the afternoon they called and said that everything looked normal with her hips and they would just keep an eye on it in the future.

So we're relieved that there are no problems with Lizzie's hip joints. We're also glad she's doing so much better than Dr. K expected her to be doing. It's going to be hard to wait another 10 days for the EEG and then a few more after that for the results, but there's not much else we can do. We are so grateful for all the prayers you have been saying for Lizzie, and we humbly ask that you please continue praying--obviously it is working!

A good weekend

This has been a nice weekend. Lizzie has been seizure-free, as far as we can tell. Tom's parents got here Friday night. Saturday morning Tom's parents, my mom, my sister, and Tom and I and the girls all walked in the Alzheimer's Walk in memory of my grandma and Tom's grandpa. Later Saturday Tom's sister and family got here. Sunday morning Lizzie was baptized at church. My dad got to do the baptism. It was a good weekend for visiting and enjoying family.

Hope. . .kind of

I've lost count of the number of people over the last couple of weeks who have told us that they know someone who had epilepsy when they were a child, but that they outgrew it and now they're just fine. I'm torn, because I want very much to believe that, for us too, this will be a short-term thing, that it's just a little speed bump in Lizzie's life; but another part of me recalls the very grave expression on the neurologist's face and the dire predictions he was making about her future. Two conditions he mentioned as potential diagnoses for Lizzie--Ohtahara syndrome and Dravet syndrome--are not conditions that she would ever outgrow. Of course, she could also have neither of those, so until we get test results, guessing at what she might have is pointless. (As an aside, Googling conditions that your child might or might not have is an exercise in torture. I don't recommend it.) We have an appointment at the epilepsy clinic on Thursday, so I am hopeful that we'll know more then.

On a brighter note, Lizzie's been doing really well the last few days. She has not had very many seizures, and she's been smiling and looking around as any normal 4-month-old will do. I don't know if it's the anti-seizure medicine that's working so well, or the B6 or folinic acid supplements that are doing the trick, but whatever it is, we're grateful.

Intractable

Now that she has been discharged from the hospital, Lizzie is a patient of the Intractable Epilepsy Clinic at Children's Mercy.

According to the Merriam-Webster dictionary, "intractable" means:
1. not easily governed, managed, or directed
2. not easily manipulated or wrought
3. not easily relieved or cured

It's not a particularly upbeat title for the clinic, but I suspect from all they've told us about her condition that it's fitting.

How did we get here?

This is a timeline of events that have occurred over the last several days.

Saturday, Sept. 10th: Lizzie had 2 seizures in the span of 5 minutes--eyes rolled back, eyelids fluttering, arms and legs jerking rhythmically. After the second one we took her to the hospital, where they drew blood, started an IV, and did a CT scan.
They transferred her to Children's Mercy, where Lizzie was admitted. The doctor mentioned several tests that might be done, but thought we might get to go home Monday.

Sunday, Sept. 11th: Lizzie continued to have seizures overnight and through the morning. The neurologists who were on call for the weekend came by to see her early Sunday afternoon. Luckily Lizzie had 2 seizures while they were in her hospital room, so they got to see exactly what we'd been describing to them (who'd have thought I'd ever say it was lucky my child had a seizure, let alone 2 of them). They immediately prescribed Keppra, an anti-seizure drug. They also took more blood and did a lumbar puncture to rule out infection.

Monday, Sept. 12th: They did an EEG and an MRI. Late in the afternoon, the neurologist came in to see Lizzie and talked with us about the results of the EEG. He was very concerned and said that her EEG did not look good. She was showing lots of seizure activity. He used the words "serious" and "severe" quite a bit throughout the conversation. He diagnosed Lizzie with "epileptic encephalopathy of infancy". The whole conversation is a little bit of a blur, but essentially the doctor talked about probable developmental delays and some possible scenarios for treatment. He mentioned that there was a very rare type of epilepsy that responds to Vitamin B6. He planned to do another EEG the next day and give her an injection of B6 while on the EEG to see if the vitamin had any effect on her seizures. He also doubled her dose of Keppra to try to control the seizures. The mood when he left our room was pretty down, to say the least. A lot of prayers were said; that I know for sure.

Tuesday, Sept. 13th: We found out that the MRI was normal, meaning there were no structural issues with her brain, no lesions, basically no indication of a cause for the seizures. Lizzie had another EEG, during which they pushed a bolus of Vitamin B6 through her IV. She screamed bloody murder; apparently B6 stings when it goes in. She also had more blood drawn and another lumbar puncture. Late in the day, the neurologist came back to her room and talked with us again. He said that he had presented her case to the entire neurology staff of the hospital and that everyone was in agreement that this was a very serious case. Her EEG still looked very bad, and the B6 had no effect on the seizures. We asked some questions, including what her long-term prognosis might be. The doctor said it was hard to say for sure until we get test results back, but that we have a very long road ahead of us. He mentioned a couple of different epileptic syndromes, one of which only has a life expectancy of a couple of years; the other involving severe developmental delays and uncontrollable seizures. The test results should take a few weeks to come back; some of them were done at Children's Mercy and some were sent off to the Mayo Clinic, so pretty much we just have to wait. He increased the Keppra again, and started her on Vitamin B6 and folinic acid. He said that even though her brain waves weren't affected by the B6 immediately, the B6 and folinic acid may help long-term with some of her symptoms. Again, the mood in the room after he left was pretty subdued and a lot more prayers were being said.

Wednesday, Sept. 14: The lumbar puncture didn't go quite as well as they'd hoped, so they weren't able to get as much fluid as they needed. They said they'd hold off on doing any more for now since she'd already been through a lot. The neurologist came in around lunchtime and chatted with us some more. We got some more questions answered and then he said we could go home. It was good to get home and be with the older girls. Now we'll just have to get used to our "new normal" with Lizzie.