Jenelle was seen by her Metabolic doctor, Dr. Richard Chang, at CHOC on Wednesday and I must say this guy really impresses me! Brett had a client appointment so he couldn't come with me. He was joking with me that morning about how he wouldn't miss having to hear the "there is nothing more we can test for" speech. Boy, was he wrong! This doctor spent over an hour talking to me about Jenelle and various tests results and such. It seems we have a plan, and there are still some tests to be done.
If you recall, we last met with Dr. Chang in January where he ordered many tests on Jenelle including Fragile X, Amino Acids, Carbohydrate Deficiency and another chromosome panel and some other tests. Nine vials of blood and some urine to be exact. All of the results were normal. When I spoke to Dr. Chang in March, he wanted to wait for the Rhett results from UCLA, as well as for copies of Jenelle's medical records from UCLA. Apparently they sent him 3 inches of documents, and he has a lot of reading to catch up on with Jenelle. We discussed her improvement, and some new symptoms and he believes there are more tests we can run. Dr. Chang wants a new MRI, PET Scan and to order another spinal tap. All of the possible tests he mentioned had really strange names, and I honestly can't remember what they were for. One is a new genetic test for a different type of autism found only in girls without speech, and another will test how her body breaks down proteins. That was all I could remember.
We see Dr. Shields in August, and Dr. Chang would like to work with UCLA on the MRI and PET Scan as CHOC does not have the appropriate radiologist needed for the specific test he wants to order. In the meantime, Dr. Chang spoke to our insurance, and all tests have to be approved first, so once again we have to wait. The problem is that our insurance is limiting him to "one test at a time" so that he doesn't incur too much cost to them should he happen to pick a test that actually turns out positive. Interesting theory - but what about all that poking and prodding to Jenelle? Regardless, once we have authorization these tests could take 4 to 6 months to complete, so at least our girl gets a break on the prodding. I like that he is willing to work with UCLA, and that he is so through in his review of Jenelle. I think we've finally found the dedicated metabolic specialist we need to keep trying to find an answer.
Friday, July 27, 2007
Thursday, July 19, 2007
Tuesday, July 17, 2007
She really can be a pest sometimes!
There is no other word for it, but Jenelle has been an absolute bitch this past week/weekend. She's been crabby, cranky, crying inconsolably and just in an out right bitchy mood. If you don't believe me, ask her teacher - she said she'd back me up on that one!
I'm not sure if I mentioned it, but a week before the 4th of July, Jenelle had strep throat. She had a high fever and was crying inconsolably. Life would be so much easier if she could simply point to the part that hurts, or better tell us what was wrong. Instead we go through a process of elimination and eventually to the doctor and/or urgent care. She ended her antibiotic on the 4th of July, and was an absolute doll for the week that followed.
Last Thursday, Jenelle had a half day at school, so she had been at daycare since noon. Around 3:00, her daycare provider called me worried because she had increased seizures and would not stop screaming and crying. In fact, I could hear Jenelle wailing in the background. Our daycare provider has the patience of a saint!
Other than the seizures, Jenelle had been crying like this the two days prior. In fact, I let her cry her self to sleep both nights, because her crying seemed behavioral. Once our daycare provider mentioned seizures, I figured we needed to check her ears and throat. Our doctor was out of the office, so this meant going to urgent care. As soon as we arrived at Urgent Care, Jenelle was happy as a clam. As if she knew we were finally believing her and the doctor would make it all better. I felt guilty writing as our "reason for visit" to be "uncontrollable crying" when she was happy and smiling. No fever, no crying, and five minutes after meeting the doctor, he diagnosed a re-lapse of strep throat and sent us home with a prescription.
And then the guilt sets in. I let her cry herself to sleep when she was in pain! How did I miss that? Probably because she didn't have a fever. Regardless, the guilt was there. At least she is some what on the mend.
My biggest fear for Jenelle is that she may hurt herself internally, and that we wouldn't be able to figure it out. We think Jenelle understands words - perhaps maybe talks in her head, but the words do not vocalize and she cannot sign. Someday we'll figure things out. Hopefully someday soon.
I'm not sure if I mentioned it, but a week before the 4th of July, Jenelle had strep throat. She had a high fever and was crying inconsolably. Life would be so much easier if she could simply point to the part that hurts, or better tell us what was wrong. Instead we go through a process of elimination and eventually to the doctor and/or urgent care. She ended her antibiotic on the 4th of July, and was an absolute doll for the week that followed.
Last Thursday, Jenelle had a half day at school, so she had been at daycare since noon. Around 3:00, her daycare provider called me worried because she had increased seizures and would not stop screaming and crying. In fact, I could hear Jenelle wailing in the background. Our daycare provider has the patience of a saint!
Other than the seizures, Jenelle had been crying like this the two days prior. In fact, I let her cry her self to sleep both nights, because her crying seemed behavioral. Once our daycare provider mentioned seizures, I figured we needed to check her ears and throat. Our doctor was out of the office, so this meant going to urgent care. As soon as we arrived at Urgent Care, Jenelle was happy as a clam. As if she knew we were finally believing her and the doctor would make it all better. I felt guilty writing as our "reason for visit" to be "uncontrollable crying" when she was happy and smiling. No fever, no crying, and five minutes after meeting the doctor, he diagnosed a re-lapse of strep throat and sent us home with a prescription.
And then the guilt sets in. I let her cry herself to sleep when she was in pain! How did I miss that? Probably because she didn't have a fever. Regardless, the guilt was there. At least she is some what on the mend.
My biggest fear for Jenelle is that she may hurt herself internally, and that we wouldn't be able to figure it out. We think Jenelle understands words - perhaps maybe talks in her head, but the words do not vocalize and she cannot sign. Someday we'll figure things out. Hopefully someday soon.
Saturday, July 07, 2007
Yummy Watermelon & Jenelle update!
Jenelle had a few appointments this week, so I have some new information to update you about. Last Friday, I took Jenelle to Mission Orthotics to be fitted for new AFOs (ankle foot orthotics). Yes, her shoe size has changed yet again! Prior to this appointment, I spoke to Jenelle's physical therapist to ask her if she wanted to make any changes to Jenelle's AFOs. She gave me her pager number and told me to have the man who does the casting to give her a call. Prior to having the casts made, I spoke to the "orthotic" guy (not sure what he is called) and explained that Jenelle was really mobile these days. I then put Jenelle on the floor to give him an idea of what I was talking about, and he was encouraged and thinks she is very close to walking! The good news is that because Jenelle has mastered "standing", she can now advance to the next type of AFO, which would provide more movement of the ankle to help her walk easier! He was going to contact our PT to give her his opinion, and will call us when the new AFOs arrive! Should be exciting!
Monday, Jenelle had an appointment with her G.I. doctor. Jenelle continues to grow and gain weight (bummer for me on the lifting) and is now 41 pounds! Jenelle is now in the 75th percentile for weight! This is amazing for a child that once fell off the weight chart prior to getting her g-tube. The doctor was so pleased, she said she only needs to see Jenelle once a year now to continue monitoring her growth. This is great news for us - one less appointment to keep! Jenelle's feeding by mouth hasn't improved much for us so it looks like the feeding tube will be with us for a while. Speaking of feeding issues, Jenelle took some interest in watermelon on the 4th of July and actually took a couple of bites. Luckily Brett got a great photo, so I can share it with you.
We hope you had a wonderful 4th of July holiday. Ours was enjoyable and Jenelle really seemed to enjoy watching the fireworks. Afterward she was so tired, she was asleep by the time we got home! Thank you for the continued prayers and positive thoughts - I'll keep you posted on anything new!
Monday, Jenelle had an appointment with her G.I. doctor. Jenelle continues to grow and gain weight (bummer for me on the lifting) and is now 41 pounds! Jenelle is now in the 75th percentile for weight! This is amazing for a child that once fell off the weight chart prior to getting her g-tube. The doctor was so pleased, she said she only needs to see Jenelle once a year now to continue monitoring her growth. This is great news for us - one less appointment to keep! Jenelle's feeding by mouth hasn't improved much for us so it looks like the feeding tube will be with us for a while. Speaking of feeding issues, Jenelle took some interest in watermelon on the 4th of July and actually took a couple of bites. Luckily Brett got a great photo, so I can share it with you.
We hope you had a wonderful 4th of July holiday. Ours was enjoyable and Jenelle really seemed to enjoy watching the fireworks. Afterward she was so tired, she was asleep by the time we got home! Thank you for the continued prayers and positive thoughts - I'll keep you posted on anything new!
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