Last week was so crazy, I'm not exactly sure where to begin...
Tuesday, the day after Valentines Day, Jenelle's teacher at Blind Children's' told me she was concerned about Jenelle because all of a sudden, it was as if she has forgotten how to suck a bottle. It took Jenelle an hour to finish a bottle, and she was practically choking herself while taking it. Grandma noticed the same thing last weekend, as have I. Of course, the biggest scare in all this is that she is regressing and losing skills - always a scare when there is no diagnosis. Her teacher thought it might be a side effect from our recent increase in Felbatol, so I told her I'd call her Neuro at UCLA.
The next day, UCLA called back to inform me Dr. Shields was out of town. The nurse who called is also in charge of the Ketogenic Diet Program, and told me they had most of Jenelle's lab work back! They had a concern in that Jenelle's "bi-carb" levels were too low indicating that she is acidotic. This can happen when a child is on the Ketogenic Diet and it is something they watch carefully. Apparently the bi-carb level (which is the level of CO2 in the blood) should be between 21 - 34, and Jenelle's was 15 - much too low for a child not on Keto already. There are two other little girls that are similar to Jenelle (Lily in Arizona being one) that were recently diagnosed with metabolic acidosis. Apparently, acidosis can causes "loss of appetite", and "loss of gross motor skills" (so this may explain the recent problem with the bottle!) When these two other girls started taking bi-carb supplements, their development really began to improve. UCLA does not want to start Jenelle on a supplement until she starts the diet, but does want her bi-carb level to increase before they will let her start. UCLA is convinced this issue is due to Jenelle taking Topamax and not the Felbatol. Ironically, we recently increased Topamax last month (remember our ER fiasco?) so now, we have been instructed to wean her back down to the previous level to see if it helps. We are still on track to start the diet March 14, assuming we don't get bumped by someone needing the bed.
As I was on the phone with UCLA, our daycare provider was trying to reach me because Jenelle was having too many long seizures again. She eventually got a hold of Brett and asked if she should use Diastat (our emergency medication to stop her seizures) - at that point, Jenelle had been seizing for 6 minutes. He told her yes, and that he was on the way. Once I was off the phone, I got Brett's voicemail about Jenelle and called him to get more details. After talking to him, I called our daycare to find out what type of seizure Jenelle was having and was told it was her usual atonic seizure type. As I was on the phone with daycare, Jenelle went into a grand mal. Our daycare provider hadn't given Jenelle her Diastat yet as she had stopped seizing after her previous 6 minute seizure. The daycare provider told me that Jenelle was seizing like she had never seen before (literally convulsing) so I told her it was a grand mal, and to give her the Diastat immediately without waiting for the seizure to last over 5 minutes. At this point, Jenelle seizures added up to almost 30 minutes of the last hour. The Diastat did its job, and Jenelle was OK the rest of the evening.
After getting off the phone with daycare, I called UCLA again to let the nurse know about the increase in seizures - she was concerned and told me to hold off on lowering the dose of Topamax until we figured out why she was so unstable. So... once I finally got home to Jenelle, I decided to take her temperature - Jenelle was running a low grade fever of 100.8, which ironically is the same it was with her last grand mal in January! Anyway - we decided she was most likely fighting off some kind of bug and decided to wait a couple of days to see if she was going to get sicker. She was fine all weekend, so I decided to lower her Topamax on Sunday- whew, back on the road to the Diet!
Oh yes, it doesn't end there. On Thursday, UCLA called to inform me that the lab neglected to run a test Dr. Shields had ordered, and they needed me to take Jenelle to draw more blood. I took her in on Friday afternoon, and she a great job, even with out our favorite Phlebotomist as she was gone on vacation (lucky her!) What an oxymoron - the use of "favorite" and "phlebotomist" in the same sentence!
Also last week, Jenelle's Pediatrician called to inform me that our referral to a GI Doctor had been approved. Poor Jenelle is very constipated from her meds, and even with daily fiber, increased fluids and the like, she will only have a BM every 3 to 5 days. Dr. Shields said this is common in children like Jenelle who have little mobility. During a conversation with our Pediatrician about the bi-carb levels, I mentioned that I had noticed that Jenelle was not urinating frequently. Remember it took 3 days just to get a sample two weeks ago? They are concerned and think we may also need a referral to a Kidney Doctor as well. This weekend we increased Jenelle's fluids, and did see a difference, so hopefully we can avoid that route. Dr. Patel mentioned that we may want the GI Doctor to run a "swallow study" to make sure Jenelle is not aspirating while taking her bottle (given her recent problems.) If she is aspirating, we may be headed towards her getting a G-Tube for feeding. All of this is just looking ahead, and hopefully we can get an appointment soon to the GI Doctor - I'm still waiting for a call back with our appointment, and would like to get this resolved before we start the diet since the diet also increases constipation - OH JOY!
And finally, this is now Tuesday. I've been drafting this update over the long weekend and spoke to UCLA again today. We could use some quick prayers as I learned today that the child who was supposed to start the Ketogenic Diet today was bumped because they did not have a hospital bed. This of course means that if they cannot get the child in tomorrow, our start date for the diet may be bumped as well. Everything for us works so well for the week of March 14 and we'd really like to start that week. Please say some prayers and send some positive thoughts that this child can start tomorrow so we will not be delayed. Jenelle is doing better this week, but we realize from our experience last week - things can change daily!
Sorry this was so long - Thanks again for your thoughts and prayers - I'll keep you posted!
Tuesday, February 22, 2005
Monday, February 14, 2005
The Valentine Update on Jenelle
Just wanted to send a quick update since my really exciting update from last week. The very next day, UCLA called and they want to schedule Jenelle for the week of March 14 or March 21 - all this depending on test results and of course bed availability! I'm hoping for the 14th as my Mother will be here the weekend before, and she will be able to just stay the following week with Jack while we are staying at UCLA.
Speaking of Jack... he is such an amazing big brother. I didn't mention this because my update was long enough already, but when we picked him up after our trip to UCLA last week, he of course asked how Jenelle's doctor's appointment went. He understands now that Jenelle is "different" and that she has a "broken brain." We don't get the tantrums anymore when we tell him we have to see her doctor, and he is usually very genuinely concerned about each visit to the doctor. So, I told Jack that Jenelle was going to get to start a "magic diet" that may help stop her seizures and help "fix" her "broken brain." Jack then said, "Maybe then she'll start talking and then she can play with me!" We can only hope.
I spoke to the nurse for Dr. Haas last week and he has finished reviewing Jenelle's medical records. He said he did not think Jenelle had any mitochondrial disease and that if we really wanted to ease our minds, we could do a muscle biopsy, but in his opinion, it wasn't necessary. That is a relief in a way, and I feel comfortable that we will only need to run the blood test that Dr. Shields is planning. He said nothing about metabolic issues (which is the main reason I sent the records) but I think I'll wait until we get her recent test results back since UCLA is already running these tests for the diet. If anything comes of the recent tests, it may be worth a call back to clarify things. Speaking of which, getting Jenelle's tests done was not easy. This time however they were able to get all the blood they needed in one poke, however collecting urine was another chore. With Jenelle always in a "lying down" position, and with constant wiggling, it is difficult to get anything in the bag we are supposed to use. Finally after three days, I was able to get a "small" sample and I'm hoping that is enough for the tests that need to be run.
Thanks again for continued prayers for Jenelle. Thank you also for the prayers for Jenelle's friend Lily. Lily is now home and is recovering well, but is still having some generalized seizures, which the surgery was supposed to stop. We are praying this is just a part of the recovery process and that after a while, they disappear again.
I'll keep you posted!
Speaking of Jack... he is such an amazing big brother. I didn't mention this because my update was long enough already, but when we picked him up after our trip to UCLA last week, he of course asked how Jenelle's doctor's appointment went. He understands now that Jenelle is "different" and that she has a "broken brain." We don't get the tantrums anymore when we tell him we have to see her doctor, and he is usually very genuinely concerned about each visit to the doctor. So, I told Jack that Jenelle was going to get to start a "magic diet" that may help stop her seizures and help "fix" her "broken brain." Jack then said, "Maybe then she'll start talking and then she can play with me!" We can only hope.
I spoke to the nurse for Dr. Haas last week and he has finished reviewing Jenelle's medical records. He said he did not think Jenelle had any mitochondrial disease and that if we really wanted to ease our minds, we could do a muscle biopsy, but in his opinion, it wasn't necessary. That is a relief in a way, and I feel comfortable that we will only need to run the blood test that Dr. Shields is planning. He said nothing about metabolic issues (which is the main reason I sent the records) but I think I'll wait until we get her recent test results back since UCLA is already running these tests for the diet. If anything comes of the recent tests, it may be worth a call back to clarify things. Speaking of which, getting Jenelle's tests done was not easy. This time however they were able to get all the blood they needed in one poke, however collecting urine was another chore. With Jenelle always in a "lying down" position, and with constant wiggling, it is difficult to get anything in the bag we are supposed to use. Finally after three days, I was able to get a "small" sample and I'm hoping that is enough for the tests that need to be run.
Thanks again for continued prayers for Jenelle. Thank you also for the prayers for Jenelle's friend Lily. Lily is now home and is recovering well, but is still having some generalized seizures, which the surgery was supposed to stop. We are praying this is just a part of the recovery process and that after a while, they disappear again.
I'll keep you posted!
Tuesday, February 08, 2005
Our trip to UCLA
The past few days have been quite eventful. First, I had not mentioned this yet in any of my recent updates, but the Southern California Epilepsy Foundation is having a seminar in early April geared towards parents of children with rare Infant Epilepsy Syndromes. Dr. Charlotte Dravet from France is one of the many doctors coming from all over the world to speak at this seminar about rare forms of Infant Epilepsy. Dr. Dravet not only discovered Severe Myoclonic Epilepsy (Dravet Syndrome, which Jenelle does not have) but she worked closely with Dr. Lennox, the doctor who discovered Lennox Gastaut Syndrome. The last time Dr. Dravet came to Southern California, the Epilepsy Foundation made arrangements for families to meet with her privately and individually. I received confirmation on Sunday that we will have the same opportunity when Dr. Dravet comes this time. We are very excited about the upcoming seminar and excited for the opportunity to meet with Dr. Dravet. We are so fortunate to have such a wonderful , supportive and pro-active Epilepsy Foundation in our area.
Also, as you know our trip to UCLA was yesterday. The good news is that Dr. Shields agrees that our next step is the Ketogenic Diet. Before we begin, Jenelle needs to have a lot of metabolic and organic acid tests. Yes, more poking for blood and bagging for urine, all of which I plan to get done on today. They need to make sure she can be stable on the diet. In addition to these standard tests, we are running a blood test for mitochondrial disease. Dr. Shields still feels that Jenelle most likely does not have mito disease, but rather than put her through the pain of a muscle biopsy, he feels we can test the mitochondria found in her blood to rule it out. A blood test is not as accurate as a muscle biopsy, but if it comes back positive, it may point us in the direction for further testing. As I’ve mentioned before, most forms of mito disease are degenerative and have no cure.
Once the test results come back, which can take 3 to 6 weeks, we will then be able to enter the hospital to start the diet as soon as a bed becomes available (again, this is the RSV time and beds for voluntary admissions are scarce.) When we enter the hospital, we will be there anywhere from 3 to 6 days, depending on how long it takes us to learn the diet and for Jenelle to become stable on the diet. After our exam with Dr. Shields, we met the nurse in charge of the diet and she gave us more information about what to expect. The diet can work to stop her seizures in as little as a few days or a few weeks. They expected to commit 3 months to the diet to see if it works.
I’m sure there is more I could say about the diet, but I’d rather wait until we know more about how it will work specifically for Jenelle. It is more strict than Atkins and the South Beach Diet, and far less nutritional. All food must be weighed before being given to Jenelle. Each child is different, and sometimes the diet works differently for each child. In the meantime while we get Jenelle’s tests started, we are increasing her Felbatol to see if that helps control her seizures. We are still seeing great results from Felbatol, but she is still not seizure free, which is the ultimate goal. There are more drugs we could try, but Dr. Shields thinks the diet is the best next step since we have some stability on Felbatol. As a professional courtesy, we informed Dr. Shields that we were planning to meet with Dr. Dravet. Dr. Shields said that he had no problem with us doing that and that, “Charlotte is an excellent doctor and it will be great to get her thoughts on Jenelle.” I also mentioned that we were waiting to hear from Dr. Haas about his review of her medical records, and Dr. Shields thought that was great as well.
It looks like the coming months will be exciting and busy for us. We hope and pray the diet and the expert opinions will help point Jenelle into a direction that will improve her development and help her reach her full potential.
By the way, please keep the prayers coming for Jenelle’s friend Lily in Arizona. The last update I received on Lily was that she was doing well (no seizures since her fever broke!) but was still having some complications like UTI infection and a cold. Again, here is her website in case you would like to check for updates directly. There is an adorable photo of Lily post-surgery - who knew a child could be so beautiful after something so major! I know they appreciate the many prayers.
Thank you for keeping us in your thoughts and prayers as well - I’ll keep you posted.
Also, as you know our trip to UCLA was yesterday. The good news is that Dr. Shields agrees that our next step is the Ketogenic Diet. Before we begin, Jenelle needs to have a lot of metabolic and organic acid tests. Yes, more poking for blood and bagging for urine, all of which I plan to get done on today. They need to make sure she can be stable on the diet. In addition to these standard tests, we are running a blood test for mitochondrial disease. Dr. Shields still feels that Jenelle most likely does not have mito disease, but rather than put her through the pain of a muscle biopsy, he feels we can test the mitochondria found in her blood to rule it out. A blood test is not as accurate as a muscle biopsy, but if it comes back positive, it may point us in the direction for further testing. As I’ve mentioned before, most forms of mito disease are degenerative and have no cure.
Once the test results come back, which can take 3 to 6 weeks, we will then be able to enter the hospital to start the diet as soon as a bed becomes available (again, this is the RSV time and beds for voluntary admissions are scarce.) When we enter the hospital, we will be there anywhere from 3 to 6 days, depending on how long it takes us to learn the diet and for Jenelle to become stable on the diet. After our exam with Dr. Shields, we met the nurse in charge of the diet and she gave us more information about what to expect. The diet can work to stop her seizures in as little as a few days or a few weeks. They expected to commit 3 months to the diet to see if it works.
I’m sure there is more I could say about the diet, but I’d rather wait until we know more about how it will work specifically for Jenelle. It is more strict than Atkins and the South Beach Diet, and far less nutritional. All food must be weighed before being given to Jenelle. Each child is different, and sometimes the diet works differently for each child. In the meantime while we get Jenelle’s tests started, we are increasing her Felbatol to see if that helps control her seizures. We are still seeing great results from Felbatol, but she is still not seizure free, which is the ultimate goal. There are more drugs we could try, but Dr. Shields thinks the diet is the best next step since we have some stability on Felbatol. As a professional courtesy, we informed Dr. Shields that we were planning to meet with Dr. Dravet. Dr. Shields said that he had no problem with us doing that and that, “Charlotte is an excellent doctor and it will be great to get her thoughts on Jenelle.” I also mentioned that we were waiting to hear from Dr. Haas about his review of her medical records, and Dr. Shields thought that was great as well.
It looks like the coming months will be exciting and busy for us. We hope and pray the diet and the expert opinions will help point Jenelle into a direction that will improve her development and help her reach her full potential.
By the way, please keep the prayers coming for Jenelle’s friend Lily in Arizona. The last update I received on Lily was that she was doing well (no seizures since her fever broke!) but was still having some complications like UTI infection and a cold. Again, here is her website in case you would like to check for updates directly. There is an adorable photo of Lily post-surgery - who knew a child could be so beautiful after something so major! I know they appreciate the many prayers.
Thank you for keeping us in your thoughts and prayers as well - I’ll keep you posted.
Tuesday, February 01, 2005
Update before UCLA
Just wanted to send a quick update before our appointment with Dr. Shields at UCLA this coming Monday. I received word this morning that our UCLA visit has been approved by insurance! YAY! Also, Jenelle's prescription for her "AFOs" (leg & ankle braces) was also approved and we will be going in for measurements on Thursday. Keep your fingers crossed that Dr. Shields will agree to put Jenelle on the Ketogenic Diet. This is something we have not tried, but I think in light of her many medications, something we should consider. Jenelle has been doing very well this past week. As she gets better from that virus she had, we've really noticed that her seizures have decreased as well. She has been "teething" of late but this has not affected her seizures much.
On a side note, for those of you who watch the show "Judging Amy" on CBS (Tuesdays at 10:00 p.m.), there will be an interesting show this evening where "Judge Amy" hears a case about a teenage girl arguing with her parents over risky brain surgery to stop her Epilepsy. I personally do not watch this show, but will be interested to see how they portray the circumstances involving such a decision. I know when Brett and I were faced with making a similar decision for Jenelle, it was a difficult one. At times when we were discussing the possibility, I know I was almost physically ill thinking about it. It will be nice to see them bring Epilepsy into the spotlight (and hopefully in a "good" spotlight.)
And finally (speaking of brain surgery) we'd like to ask for some extra prayers and positive thoughts for Jenelle's friend Lily in Arizona. Lily is 2 months older than Jenelle and had brain surgery yesterday (January 31) to hopefully put a stop to her violent grand mals. Lily has at least two violent grand mals a day lasting almost 10 minutes each, and usually cries inconsolably for a half an hour after. You may have heard me mention Lily before because she and Jenelle have been so similar and they sometimes look like sisters in photos! Her parents are so nice and so strong. Often we support each other as we try to find something to help our girls. Lily's surgery went well, but she had a fever after and has meningitis resulting from the surgery. Please keep her and her family in your prayers that her recovery will go smoothly.
If you would like to read more about Lily, here is her website.
Lily's Website
Thanks again and I'll update after our visit to UCLA next week!
On a side note, for those of you who watch the show "Judging Amy" on CBS (Tuesdays at 10:00 p.m.), there will be an interesting show this evening where "Judge Amy" hears a case about a teenage girl arguing with her parents over risky brain surgery to stop her Epilepsy. I personally do not watch this show, but will be interested to see how they portray the circumstances involving such a decision. I know when Brett and I were faced with making a similar decision for Jenelle, it was a difficult one. At times when we were discussing the possibility, I know I was almost physically ill thinking about it. It will be nice to see them bring Epilepsy into the spotlight (and hopefully in a "good" spotlight.)
And finally (speaking of brain surgery) we'd like to ask for some extra prayers and positive thoughts for Jenelle's friend Lily in Arizona. Lily is 2 months older than Jenelle and had brain surgery yesterday (January 31) to hopefully put a stop to her violent grand mals. Lily has at least two violent grand mals a day lasting almost 10 minutes each, and usually cries inconsolably for a half an hour after. You may have heard me mention Lily before because she and Jenelle have been so similar and they sometimes look like sisters in photos! Her parents are so nice and so strong. Often we support each other as we try to find something to help our girls. Lily's surgery went well, but she had a fever after and has meningitis resulting from the surgery. Please keep her and her family in your prayers that her recovery will go smoothly.
If you would like to read more about Lily, here is her website.
Lily's Website
Thanks again and I'll update after our visit to UCLA next week!
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