Yesterday we met with Leyla's ophthalmologist/ surgeon, Dr. DeBecker. She explained to us how the procedure will go on Wednesday.
Rather than weakening the inside muscles on Leyla's eyes, they will now be peeling the muscles from the top and bottom of her eyes and moving them to the outsides of the eyes. They will then do a couple of Botox injections on the inside muscles, to relax them a bit while she heals. It should take about 8 weeks after the surgery to see whether the surgery was fully successful or not. There is a chance that she may need another surgery to weaken the inside muscles afterward but, we're hoping that isn't an issue!
Today we saw Dr. Rosenthal (Leyla's Pediatrician) for her Pre-Op physical, got the sign off! We're good to go! In about 3 1/2 hours we'll be on our way to the Worlds Largest Buffalo! Does it get any better than that?!
Have a great weekend!
Jenni
9.03.2010
9.02.2010
Mixed Feelings
T minus 6 days and counting until Leyla's eye surgery! Yikes! I have an overwhelming amount of mixed feelings happening about this surgery. Obviously, as any mom would be, I'm scared to death about it! I mean, I fully trust her doctors and I fully trust that the Lord will keep her safe and healthy during the procedures but, come on, they're operating on her eyes for goodness sake! I have so many fears and what-ifs, what if it doesn't work, what if it makes her eyes worse, what if it makes her blind, I fear the pain that she'll be in afterward, I fear that she'll associate us to the pain that she feels, I fear having to put her through all of it again if it doesn't work...I could go on for days!
On the other hand, though, I'm excited! The hope is that Leyla's range of sight will increase from the surgery which in turn will (hopefully) help her to want to reach out for things that are off to her sides and eventually roll over! There's also the obvious apperance part of it, we hope that Leyla's eyes will no longer be crossed and that she'll be able to pull her eyes to the outside rather than only being able to look with one eye or turn her head to see things that are off to the side of her.
Other than the surgery, Leyla will have a couple other procedures done next Wednesday, the electroretinogram (ERG), another MRI and she'll have blood taken for the genetic testing. I'm anxious to see the results of the ERG as that should give us some information as to what Leyla's eyes will do in the future. She may be able to see really well right now but, will her retinas still have the same functionality 5 or even 10 years from now?
We're meeting Dr. DeBecker today for Leyla's Pre-Op eye measurements and Dr. Rosenthal (Leyla's Peditrician) tomorrow for her Pre-Op physical then our little lady gets a few days to relax with her Grandma Dawn & Grandpa Jerry, her cousins Brayden & Carley (pictured below), aunties & uncles....AND She'll get to meet the Worlds Largest Buffalo all before heading back for physical therapy on Tuesday and the surgery on Wednesday!
On the other hand, though, I'm excited! The hope is that Leyla's range of sight will increase from the surgery which in turn will (hopefully) help her to want to reach out for things that are off to her sides and eventually roll over! There's also the obvious apperance part of it, we hope that Leyla's eyes will no longer be crossed and that she'll be able to pull her eyes to the outside rather than only being able to look with one eye or turn her head to see things that are off to the side of her.
Other than the surgery, Leyla will have a couple other procedures done next Wednesday, the electroretinogram (ERG), another MRI and she'll have blood taken for the genetic testing. I'm anxious to see the results of the ERG as that should give us some information as to what Leyla's eyes will do in the future. She may be able to see really well right now but, will her retinas still have the same functionality 5 or even 10 years from now?
We're meeting Dr. DeBecker today for Leyla's Pre-Op eye measurements and Dr. Rosenthal (Leyla's Peditrician) tomorrow for her Pre-Op physical then our little lady gets a few days to relax with her Grandma Dawn & Grandpa Jerry, her cousins Brayden & Carley (pictured below), aunties & uncles....AND She'll get to meet the Worlds Largest Buffalo all before heading back for physical therapy on Tuesday and the surgery on Wednesday!
Have a safe holiday weekend!
Jenni
**Note about the giveaways; you must leave a comment for each entry or you'll only be entered for the one that you leave.**
8.25.2010
Kidneys are looking good!
Good morning!
We met with the kidney specialist (Dr. Rheault) yesterday and just got the call with results from Leyla's ultrasound and bloodwork. Everything looks normal right now! Yay!
We'll know more about whether Leyla has one of the two genes that show up in kids with Joubert's that show kidney issues when we get the genetic testing results back in the spring. So, for now, we just wait for that and go back for follow up with Dr. Rheault in a year.
Enjoy this beautiful day!
Jenni
We met with the kidney specialist (Dr. Rheault) yesterday and just got the call with results from Leyla's ultrasound and bloodwork. Everything looks normal right now! Yay!
We'll know more about whether Leyla has one of the two genes that show up in kids with Joubert's that show kidney issues when we get the genetic testing results back in the spring. So, for now, we just wait for that and go back for follow up with Dr. Rheault in a year.
Enjoy this beautiful day!
Jenni
8.23.2010
Blogger MIA
I've been a little MIA for the past few weeks. Life has actually been a little quiet before the storm coming over the next 3 weeks leading up to Leyla's surgery.
Leyla has been doing really well! She's starting to actually say "mama" rather than just a random "ma" here and there! She's now on her 3rd week of Physical Therapy and is doing awesome! She is starting to roll to her side which is just one step closer to her rolling all the way over!
She will see the nephrologist tomorrow to find out about how her abdominal ultrasound looked and next week we move into the pre-op appointments for her surgery that will be on the 8th of September.
This weekend I walked in the Susan G. Komen Breast Cancer 3 Day, below is a picture of me and Leyla at one of the cheer stations that Eric and Leyla came to visit us at!
Leyla has been doing really well! She's starting to actually say "mama" rather than just a random "ma" here and there! She's now on her 3rd week of Physical Therapy and is doing awesome! She is starting to roll to her side which is just one step closer to her rolling all the way over!
She will see the nephrologist tomorrow to find out about how her abdominal ultrasound looked and next week we move into the pre-op appointments for her surgery that will be on the 8th of September.
This weekend I walked in the Susan G. Komen Breast Cancer 3 Day, below is a picture of me and Leyla at one of the cheer stations that Eric and Leyla came to visit us at!
I have some fun news for all of my awesome readers! We've got GIVEAWAYS!!! I have lined up some really awesome Etsy shops that are super excited to do some giveaways for my followers! How fun is that?!
The first one will be posted one week from today!! Make sure to check back, become a follower and get entered to win!!
Have a blessed week!
Jenni
8.10.2010
Quick Update
Sheesh, it's been a while since I posted last!
Last week we had two more appointments for Leyla; neither really gave us any more information. Wednesday, she had an abdominal ultrasound that will be sent to the nephrologist for our appointment with him on the 24th of this month. Obviously, the ultrasound tech wasn't able to give us any information as to what she saw or didn't see. An abdominal ultrasound is so much less exciting than an abdominal ultrasound when you're pregnant!! Eric and I both agreed that we had no idea what we were looking at!
Enjoy this stormy day!
Jenni
Last week we had two more appointments for Leyla; neither really gave us any more information. Wednesday, she had an abdominal ultrasound that will be sent to the nephrologist for our appointment with him on the 24th of this month. Obviously, the ultrasound tech wasn't able to give us any information as to what she saw or didn't see. An abdominal ultrasound is so much less exciting than an abdominal ultrasound when you're pregnant!! Eric and I both agreed that we had no idea what we were looking at!
Then, on Friday, we had a physical therapy evaluation. The therapist really didn't tell us anything that we didn't already know. She tried to get Leyla to roll over, rotate while on her belly, pull up to sitting from laying....Leyla wanted nothing to do with it, she just clapped everytime she tried to get her to do something new. My fear with physical therapy is that the therapist won't know about Joubert's and she'll expect Leyla to do things that are not realistic for her to be doing at this point. I did ask the therapist whether or not she'd worked with any children with Joubert's in the past...nope. We'll see how it goes...I may need some recommendations for PTs in the area that other Joubert families have used and liked. Right now, we'll be doing PT once a week for 12 weeks and we'll see how that goes and re-evaluate.
On a more fun note...well, for me anyway...Friday, Leyla and I also went for a training walk with our friend Heather and her son/ Leyla's boyfriend Cohen! : ) The kiddos did great! Below is a pic from our pit stop at the park!
Jenni
7.27.2010
Genetic Counseling
Back to the University of Minnesota today, we had our first meeting with the genetic counselors (Karol Rubin) that will follow Leyla and do the genetic testing on her...well, they're not doing the actual testing...her blood will be drawn at the time of her surgery and then sent off so some lab in Wisconsin to be tested and then she will give us the results. The hope is that they'll be able to pinpoint the two non-working (of the 9 that are known to cause Joubert's) genes that Eric and I each passed to Leyla that caused her condition. Man, that sounds terrible! We don't by any means feel like this is something that WE did to Leyla but, in reality we both had to pass one non-working gene of the same type to her for Joubert's to be present.
The information given to us today was very helpful though left us with a lot of questions and things to think about. We already knew that if at some point Eric and I decided to have another child, there is a 25% chance that he/she would also be affected by Joubert's Syndrome. We were informed today that there are pre-conception as well as prenatal options available that can help to determine whether the new baby would have Joubert's. Interesting.
First thought...we would not ever, ever, ever terminate a pregnancy so, the prenatal options are out. No need to even go any further than that. So, then conversation turns to the pre-conception options. Basically, the DNA in my eggs and Eric's sperm would be analyzed and those that didn't have the non-working gene's would be implanted, much like an invitro fertilization process. Hmm...that spurs many questions for me...
I'd love to hear your opinions on this! Feel free to comment! Have a wonderful Tuesday!
Jenni
The information given to us today was very helpful though left us with a lot of questions and things to think about. We already knew that if at some point Eric and I decided to have another child, there is a 25% chance that he/she would also be affected by Joubert's Syndrome. We were informed today that there are pre-conception as well as prenatal options available that can help to determine whether the new baby would have Joubert's. Interesting.
First thought...we would not ever, ever, ever terminate a pregnancy so, the prenatal options are out. No need to even go any further than that. So, then conversation turns to the pre-conception options. Basically, the DNA in my eggs and Eric's sperm would be analyzed and those that didn't have the non-working gene's would be implanted, much like an invitro fertilization process. Hmm...that spurs many questions for me...
- Is that sticking our hands into something that God did not intend us to be able to control or manipulate?
- At some point in her life, Leyla would likely find out that we had that procedure done, would that make her feel like we took these extra steps to make sure that we didn't have another baby like her? Can you imagine?!
- We love Leyla more than anything in the world, why would we even consider this? Just to make life easier on ourselves? Is that just being selfish?
- What's better, for Leyla to have a brother or sister that has Joubert's and can totally relate to her or for her to have a brother or sister that doesn't have Joubert's and can love and support her and be her best friend regardless of her condition?
- Doesn't the Lord only give us what He knows that we can handle? Is He using Leyla's condition to teach us something about ourselves or about Leyla or using Leyla's condition for us to educate others about Joubert's? If He will only give us what He knows that we we can handle; who are we to manipulate that before conception?
I'd love to hear your opinions on this! Feel free to comment! Have a wonderful Tuesday!
Jenni
7.26.2010
What is Joubert's Syndrome?
As I sit here google-ing, trying to figure out what to expect for our appointment with the geneticist tomorrow, over and over I run into the definition (if you can call it that) of Joubert's Syndrome. Even though, I've read this 9 million times in the past two months, I still don't feel like I fully understand what it is, what to expect, where it comes from or what causes it, what it means for Leyla's future, I could go on and on. All of that said, it made me realize that if I don't fully understand and I've been to all of the doctor appointments and read all of the reports; surely, you all can't completely understand. So, I've taken the "definition" from the Joubert Foundation's website and I've posted it below.
Joubert syndrome refers to a disorder in which there is a specific abnormality in the part of the brain called the cerebellar vermis. There is a group of genetic conditions and syndromes that may share this cerebellar malformation, and they are known as Joubert syndrome and related disorders (JSRD). These conditions have some characteristics in common, but there is a spectrum of symptoms and abilities in affected individuals. For additional information regarding this family of conditions, please refer to the Joubert Syndrome Foundation & Related Cerebellar Disorders website at www.jsfrcd.org.
Individuals diagnosed with classic Joubert syndrome traditionally exhibit the following features:
-Underdevelopment (hypoplasia) or complete lack (aplasia/agenesis) of the cerebellar vermis, usually indicated by the “Molar Tooth” sign found on an axial view of a brain MRI scan.
•Developmental delays—variable severity.
•Difficulty coordinating voluntary muscle movements; uncoordinated movements (ataxia).
•Decreased muscle tone (hypotonia).
•Oculomotor apraxia (OMA), which is a specific eye movement abnormality in which it is difficult for children to track objects smoothly. Eyes may appear to jump, with jerky eye movements.
•Difficulty processing and reacting to information received through their five senses.
Explanation of features:
Individuals diagnosed with Joubert syndrome have an absence or underdevelopment of part of the brain called the cerebellar vermis which controls balance and coordination. The severity of the resulting ataxia (uncoordinated movements) varies from person to person.
Decreased muscle tone is common in children with Joubert syndrome. As a result of the poor muscle tone, developmental delay (usually in gross motor, fine motor and speech areas) is common. Some children have also been noted to have abnormal eye and tongue movements. Developmental delays are usually treated through physical therapy, occupational therapy, speech therapy, and infant stimulation. Most children diagnosed with Joubert syndrome are able to achieve standard milestones, although often at a much later age.
Some individuals experience difficulties resulting from an inability to appropriately process information received through the five senses - hearing, seeing, tasting, touching, and smelling - as well as from their poor sense of balance and muscle movement. Some families have found that sensory integration therapy can help to minimize these sensory issues.
Overall health and growth are not known to be severely affected by this condition unless significant liver or kidney failure occurs.
Management and treatment:
Presently, there is no cure for Joubert syndrome. It is recommended that individuals with Joubert syndrome see the appropriate specialists necessary to help monitor their various clinical features. Suggested specialists include a nephrologist (kidney doctor), ophthalmologist (eye doctor), geneticist, and neurologist, as well as any others recommended by your doctor.
Screening for some of the complications associated with Joubert syndrome-related disorders, such as liver, eye, or kidney involvement that may become progressive over time, is recommended on an annual basis.
Okay, I hope that helps a little bit...or maybe it just made it even harder to understand! Basically, the bridge that connects the two halves of the brain is either underdeveloped or non-existant (underdeveloped in Leyla's case) so the two halves are not able to communicate with each other causing Leyla's low toned muscles, balance and coordination problems, and it's why she doesn't crawl, roll over, and hasn't begun to walk.
Whew, that's all for today! Enjoy the beautiful night!
Jenni
Joubert syndrome refers to a disorder in which there is a specific abnormality in the part of the brain called the cerebellar vermis. There is a group of genetic conditions and syndromes that may share this cerebellar malformation, and they are known as Joubert syndrome and related disorders (JSRD). These conditions have some characteristics in common, but there is a spectrum of symptoms and abilities in affected individuals. For additional information regarding this family of conditions, please refer to the Joubert Syndrome Foundation & Related Cerebellar Disorders website at www.jsfrcd.org.
Individuals diagnosed with classic Joubert syndrome traditionally exhibit the following features:
-Underdevelopment (hypoplasia) or complete lack (aplasia/agenesis) of the cerebellar vermis, usually indicated by the “Molar Tooth” sign found on an axial view of a brain MRI scan.
•Developmental delays—variable severity.
•Difficulty coordinating voluntary muscle movements; uncoordinated movements (ataxia).
•Decreased muscle tone (hypotonia).
•Oculomotor apraxia (OMA), which is a specific eye movement abnormality in which it is difficult for children to track objects smoothly. Eyes may appear to jump, with jerky eye movements.
•Difficulty processing and reacting to information received through their five senses.
Explanation of features:
Individuals diagnosed with Joubert syndrome have an absence or underdevelopment of part of the brain called the cerebellar vermis which controls balance and coordination. The severity of the resulting ataxia (uncoordinated movements) varies from person to person.
Decreased muscle tone is common in children with Joubert syndrome. As a result of the poor muscle tone, developmental delay (usually in gross motor, fine motor and speech areas) is common. Some children have also been noted to have abnormal eye and tongue movements. Developmental delays are usually treated through physical therapy, occupational therapy, speech therapy, and infant stimulation. Most children diagnosed with Joubert syndrome are able to achieve standard milestones, although often at a much later age.
Some individuals experience difficulties resulting from an inability to appropriately process information received through the five senses - hearing, seeing, tasting, touching, and smelling - as well as from their poor sense of balance and muscle movement. Some families have found that sensory integration therapy can help to minimize these sensory issues.
Overall health and growth are not known to be severely affected by this condition unless significant liver or kidney failure occurs.
Management and treatment:
Presently, there is no cure for Joubert syndrome. It is recommended that individuals with Joubert syndrome see the appropriate specialists necessary to help monitor their various clinical features. Suggested specialists include a nephrologist (kidney doctor), ophthalmologist (eye doctor), geneticist, and neurologist, as well as any others recommended by your doctor.
Screening for some of the complications associated with Joubert syndrome-related disorders, such as liver, eye, or kidney involvement that may become progressive over time, is recommended on an annual basis.
Okay, I hope that helps a little bit...or maybe it just made it even harder to understand! Basically, the bridge that connects the two halves of the brain is either underdeveloped or non-existant (underdeveloped in Leyla's case) so the two halves are not able to communicate with each other causing Leyla's low toned muscles, balance and coordination problems, and it's why she doesn't crawl, roll over, and hasn't begun to walk.
Whew, that's all for today! Enjoy the beautiful night!
Jenni
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