Hi everyone,
I know Brian and I haven't posted lately, but I wanted to share this exciting article about adults with LCA who have had successes with gene therapy treatments. We are looking forward to going to Philadelphia again this summer to attend the LCA conference and to learn more about recent advances in gene therapy and other treatments and technologies on the horizon.
http://www.bbc.co.uk/news/health-16942795
I'm also posting an amazing TED talk about a prosthetic retina that is currently being developed.
http://www.ted.com/talks/lang/en/sheila_nirenberg_a_prosthetic_eye_to_treat_blindness.html
Happy reading!! We certainly are happy to be reading this!!
Saturday, February 11, 2012
Wednesday, November 30, 2011
Little Swimmer
Brian here.
First off, we are SO sorry for letting this blog go dormant for so long. We know that a lot of you have been patiently waiting for an update, and we truly do apologize for not writing anything for 6 months. It won't happen again...
Anyway, where to start? Audrey is really coming into her own. I can't possibly summarize the last 6 months in a few paragraphs, but over the course of the next few weeks, we both hope to try to get everyone up to speed on her life and times.
Probably the most exciting thing for her and daddy has been our membership at a local pool. Audrey LOVES swimming, and I love taking her 2-3 times a week either after work or on weekends. Oftentimes she has the pool and hot tub to herself, and we make the most of our time there.
She had a few formal "lessons" with Ashley at a place in Pacific Beach back in the summer, but our time now is mostly informal. She can hold her breath underwater, jump from a seated position into the water, and is very adept at kicking and balancing on 1 leg while I hold her hands and just generally splashing about. As her dad, it is truly THE highlight of my week to take her to the pool. She is very well-behaved, for the most part, and likes to play games with me when I say "don't drink the water"- of course she always drinks it, and has a very mischievous way about her when she does it. I absolutely cannot wait until she is old enough to play in the ocean with me, I have a whole list of ideas and things I want to share with her.Afterwards, we like to pick up Mexican food and get messy with it. One nice thing is that her time in the water really tires her out, so it helps her sleep schedule tremendously. Or maybe that's the carne asada.
Medically, not much is new. We had her on a gluten and dairy free diet for a while to see if her behavior improved any (she gets overwhelmed and frustrated in loud environments), but that didn't seem to be a culprit. More than anything, she's just working though the terrible behavior with time, or least managing her frustrations better. She still has a ways to go, but her expressive language is getting there, which should help alleviate some of her outbursts.
On the gene front, we're planning on using some of the life insurance money my dad left us to set up a foundation for research on her specific gene. We're still familiarizing ourselves with the machinations and particulars of the different foundation avenues, but will certainly keep everyone in the loop once something is up and running.
As an aside, I was truly touched by how many people made donations to the Foundation for Retinal Research in my dad's memory; I'm not sure the depth of our gratitude was ever conveyed. I was going through some of his things in Rancho Bernardo, and seeing all of those cards at one time brought me to tears. I'm sure my dad would be proud in knowing that he can count on so many wonderful friends to help look after his granddaughter in his absence. Thank you again so much for your generosity and thoughtfulness.
I want to make sure to convey that no matter the level of our fundraising efforts moving forward, our primary focus is, and always will be, raising a wonderful, fierce, exciting child that just happens to be blind. Probably second to that will be keeping this blog from going down for another 6 months...;)
It's getting late, but we plan to pump out a number of updates in the next few weeks- we have to talk about Audrey's summer, her Halloween, and her adventures in potty training, to name a few. We'll be sure and cull through all of our pictures and get some of those up soon as well.
If you're still out there after all these days, thanks for reading...
-Brian
First off, we are SO sorry for letting this blog go dormant for so long. We know that a lot of you have been patiently waiting for an update, and we truly do apologize for not writing anything for 6 months. It won't happen again...
Anyway, where to start? Audrey is really coming into her own. I can't possibly summarize the last 6 months in a few paragraphs, but over the course of the next few weeks, we both hope to try to get everyone up to speed on her life and times.
Probably the most exciting thing for her and daddy has been our membership at a local pool. Audrey LOVES swimming, and I love taking her 2-3 times a week either after work or on weekends. Oftentimes she has the pool and hot tub to herself, and we make the most of our time there.
She had a few formal "lessons" with Ashley at a place in Pacific Beach back in the summer, but our time now is mostly informal. She can hold her breath underwater, jump from a seated position into the water, and is very adept at kicking and balancing on 1 leg while I hold her hands and just generally splashing about. As her dad, it is truly THE highlight of my week to take her to the pool. She is very well-behaved, for the most part, and likes to play games with me when I say "don't drink the water"- of course she always drinks it, and has a very mischievous way about her when she does it. I absolutely cannot wait until she is old enough to play in the ocean with me, I have a whole list of ideas and things I want to share with her.Afterwards, we like to pick up Mexican food and get messy with it. One nice thing is that her time in the water really tires her out, so it helps her sleep schedule tremendously. Or maybe that's the carne asada.
Medically, not much is new. We had her on a gluten and dairy free diet for a while to see if her behavior improved any (she gets overwhelmed and frustrated in loud environments), but that didn't seem to be a culprit. More than anything, she's just working though the terrible behavior with time, or least managing her frustrations better. She still has a ways to go, but her expressive language is getting there, which should help alleviate some of her outbursts.
On the gene front, we're planning on using some of the life insurance money my dad left us to set up a foundation for research on her specific gene. We're still familiarizing ourselves with the machinations and particulars of the different foundation avenues, but will certainly keep everyone in the loop once something is up and running.
As an aside, I was truly touched by how many people made donations to the Foundation for Retinal Research in my dad's memory; I'm not sure the depth of our gratitude was ever conveyed. I was going through some of his things in Rancho Bernardo, and seeing all of those cards at one time brought me to tears. I'm sure my dad would be proud in knowing that he can count on so many wonderful friends to help look after his granddaughter in his absence. Thank you again so much for your generosity and thoughtfulness.
I want to make sure to convey that no matter the level of our fundraising efforts moving forward, our primary focus is, and always will be, raising a wonderful, fierce, exciting child that just happens to be blind. Probably second to that will be keeping this blog from going down for another 6 months...;)
It's getting late, but we plan to pump out a number of updates in the next few weeks- we have to talk about Audrey's summer, her Halloween, and her adventures in potty training, to name a few. We'll be sure and cull through all of our pictures and get some of those up soon as well.
If you're still out there after all these days, thanks for reading...
-Brian
Sunday, May 15, 2011
Not wearing your mom genes
Well, the saga continues. After almost a year, we finally recieved the results of Audrey's LCA genetic tests, and they are consistent with her diagnosis of LCA. We always thought that the results would help us narrow our focus and that by finding our gene, we could find her gene-specific research out there, and connect with families also affected by the same gene. It turns out, however, that our results raised more questions than answers.
Last month we had an appointment to see Dr. Zhang, Audrey's retinal specialist, for a 6 month routine visit. We as a family were ready to rip everyone in the office a new one because the Friday before his office manager called and told us not to expect any genetic test results because they had an insufficient blood sample. She said that when we came on Monday they'd draw again.
This wouldn't be such a big deal if this information didn't come almost a full year after little angel had to submit to a horrifying blood draw at 6 months old. No one could find her vein and so they poked incessently into her tiny, delicate little arm until they got what amounted to nothing but a traumatizing event (mostly for me..thank goodness she won't remember). OR if we were ignorant and didn't know that one of the first steps in the testing process is to check the blood supply and concentration. After waiting what seemed like an eternity for results in the first place, only to find we wer back at square 1, we were furious.
This news just confirmed what we had already been feeling after a couple of visits when a number of people stumbled to explain where our daughter's blood was, and what stage of the testing it was in-- they're unorganized, and they don't care about us. Repeatedly we have witnessed that her care just isn't a priority. We were referred by Dr. Granet who maintains that Dr. Zhang is a foremost expert on retinal genetics. Dr. Zhang is truly brilliant, but our care has been totally discombobulated and every time we leave there our heads are hung low because we've learned nothing new.
On this particular visit, however, we did learn something--not from them of course. While we waited to be seen by Dr. Zhang, we checked the status of the bloodwork that was being done for us at Carver Lab through project 3000. To our surprise, Audrey's page said that testing was complete and that results were being sent to her physician. I thought my head was going to explode, and I couldn't believe the timing. We frantically reported this news to Dr. Zhang who sent a gaggle of med students into a flurry looking for the fax, email, whatever. While this was going on, we were placing bets about the likelyhood that they could find our results, considering all of the other things that had gone afoul. Ultimately we discovered that in fact, the results were sent by snail mail, and Brian and I made a number of jokes about the status of technology in Iowa. (No offense to the Iowan readers out there).
Last Friday I called the office and we found our results. Audrey's gene has been identified, it is called IQCB1. The news that it had been identified was such a wonderful hope--we were lucky because not all LCA genes have been identified. Our hopes, however, were dashed almost as soon as we could found something on the internet to read about it. Here is some of the info about her gene from the TFRR (Foundation for Retinal Research) website:
16. IQCB1 / NPHP5 gene
This is one of the latest genes to be identified (2010) whose mutations lead to a form of LCA. The protein appears to be important in functioning of both retina and kidney. In the retina, gene mutations lead to a "ciliopathy", i.e., where the cilium of the photoreceptor cell dysfunctions.
The LCA condition caused by problems with IQCB1 gene can also be associated with severe kidney problems called nephronophtisis.
New work (2011) indicates that rod photoreceptor loss are severely affected early in the disease process but that cone photoreceptor cells are less severely affected.
Because these IQCB1 patients are at hight risk of developing kidney failure, all new LCA patients should be screened for IQCB1 mutations. If found, patients should be closely monitored for kidney function.
An animal model is being studied that might lead to gene therapy for this form of LCA as well as to the NPHP6/CEP290 form.
While there are promising gene therapy studies in the works, the high likelihood of my baby developing a severe health problem devastated me.
The actual genetic test report listed a number of things, one being the actual variation identified in her IQCB1 gene (it's complicated, but it's called IQCB1-His506del2cagCA). This indicates that there is a very good chance that she will develop a kidney disease called Senior-Loken Syndrome at some point. Most people develop it after their first decade, some earlier, and some never.
We don't kow what's going to happen--she may be fine, but it was a major scare for me. When we found out Audrey was blind it was hard, and it still is sometimes, but I can handle it because she is healthy and because I know she can overcome it. I try to think of it as part of what makes her unique--she has a different way of experiencing the world (although I do worry about what goes on in that head of hers).
A health problem, however, is completely different. It broke my heart--have you seen my baby?
She is the most adorable girl in the world-- just the thought of something getting in the way of her precious, vivacious little life is unbearable to me.
I know that in life what's going to happen will happen, and we have no control over that. Worry was okay for that day, but her dad and I have realized that too much of it takes away from the joys in life, and this gerz is growing up fast. Whatever happens in this life, it will be with her, and that's our best life.
And talking about one unique girl, 1 in about 80,000 people are born with LCA. Most people with LCA inherit it through an autosomal recessive pattern when both parents are carriers of the same LCA-causing gene, and then have a 1:4 chance of inheriting it. Audrey is a different story. In an estimated 1% of LCA cases, something called uniparental isodisomy occurs, which is when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent.
Brian was a carrier of the IQCB1 mutation, and I had a normal alleles. My genes, however failed to show up for this particular exchange, and Brian's recessive gene replicated itself and voila!, a one in 80,000,000 gerz was created (actually she's one of a kind). So she literally, as this post's title states, is not wearing her mom genes, at least in that area.
Brian jokes that my 'missing' genes explain a lot about me.
We did find encouraging news from this. Because my genes not showing up for whatever reason is considered a fluke, and because I am not a carrier of the IQCB1genetic mutation, the chances of us having another child with LCA are much smaller than 1:4. Before we found these results, we were planning on having another child regardless of the risk. This news doesn't change anything, but it was nice to know.
Today Audrey is a happy and healthy 21 month old, and we're so thankful for that. We're geared up to see a kidney specialist and a genetic counselor this summer. We will update when we find out more.
Last month we had an appointment to see Dr. Zhang, Audrey's retinal specialist, for a 6 month routine visit. We as a family were ready to rip everyone in the office a new one because the Friday before his office manager called and told us not to expect any genetic test results because they had an insufficient blood sample. She said that when we came on Monday they'd draw again.
This wouldn't be such a big deal if this information didn't come almost a full year after little angel had to submit to a horrifying blood draw at 6 months old. No one could find her vein and so they poked incessently into her tiny, delicate little arm until they got what amounted to nothing but a traumatizing event (mostly for me..thank goodness she won't remember). OR if we were ignorant and didn't know that one of the first steps in the testing process is to check the blood supply and concentration. After waiting what seemed like an eternity for results in the first place, only to find we wer back at square 1, we were furious.
This news just confirmed what we had already been feeling after a couple of visits when a number of people stumbled to explain where our daughter's blood was, and what stage of the testing it was in-- they're unorganized, and they don't care about us. Repeatedly we have witnessed that her care just isn't a priority. We were referred by Dr. Granet who maintains that Dr. Zhang is a foremost expert on retinal genetics. Dr. Zhang is truly brilliant, but our care has been totally discombobulated and every time we leave there our heads are hung low because we've learned nothing new.
On this particular visit, however, we did learn something--not from them of course. While we waited to be seen by Dr. Zhang, we checked the status of the bloodwork that was being done for us at Carver Lab through project 3000. To our surprise, Audrey's page said that testing was complete and that results were being sent to her physician. I thought my head was going to explode, and I couldn't believe the timing. We frantically reported this news to Dr. Zhang who sent a gaggle of med students into a flurry looking for the fax, email, whatever. While this was going on, we were placing bets about the likelyhood that they could find our results, considering all of the other things that had gone afoul. Ultimately we discovered that in fact, the results were sent by snail mail, and Brian and I made a number of jokes about the status of technology in Iowa. (No offense to the Iowan readers out there).
Last Friday I called the office and we found our results. Audrey's gene has been identified, it is called IQCB1. The news that it had been identified was such a wonderful hope--we were lucky because not all LCA genes have been identified. Our hopes, however, were dashed almost as soon as we could found something on the internet to read about it. Here is some of the info about her gene from the TFRR (Foundation for Retinal Research) website:
16. IQCB1 / NPHP5 gene
This is one of the latest genes to be identified (2010) whose mutations lead to a form of LCA. The protein appears to be important in functioning of both retina and kidney. In the retina, gene mutations lead to a "ciliopathy", i.e., where the cilium of the photoreceptor cell dysfunctions.
The LCA condition caused by problems with IQCB1 gene can also be associated with severe kidney problems called nephronophtisis.
New work (2011) indicates that rod photoreceptor loss are severely affected early in the disease process but that cone photoreceptor cells are less severely affected.
Because these IQCB1 patients are at hight risk of developing kidney failure, all new LCA patients should be screened for IQCB1 mutations. If found, patients should be closely monitored for kidney function.
An animal model is being studied that might lead to gene therapy for this form of LCA as well as to the NPHP6/CEP290 form.
While there are promising gene therapy studies in the works, the high likelihood of my baby developing a severe health problem devastated me.
The actual genetic test report listed a number of things, one being the actual variation identified in her IQCB1 gene (it's complicated, but it's called IQCB1-His506del2cagCA). This indicates that there is a very good chance that she will develop a kidney disease called Senior-Loken Syndrome at some point. Most people develop it after their first decade, some earlier, and some never.
We don't kow what's going to happen--she may be fine, but it was a major scare for me. When we found out Audrey was blind it was hard, and it still is sometimes, but I can handle it because she is healthy and because I know she can overcome it. I try to think of it as part of what makes her unique--she has a different way of experiencing the world (although I do worry about what goes on in that head of hers).
A health problem, however, is completely different. It broke my heart--have you seen my baby?
She is the most adorable girl in the world-- just the thought of something getting in the way of her precious, vivacious little life is unbearable to me.
I know that in life what's going to happen will happen, and we have no control over that. Worry was okay for that day, but her dad and I have realized that too much of it takes away from the joys in life, and this gerz is growing up fast. Whatever happens in this life, it will be with her, and that's our best life.
And talking about one unique girl, 1 in about 80,000 people are born with LCA. Most people with LCA inherit it through an autosomal recessive pattern when both parents are carriers of the same LCA-causing gene, and then have a 1:4 chance of inheriting it. Audrey is a different story. In an estimated 1% of LCA cases, something called uniparental isodisomy occurs, which is when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent.
Brian was a carrier of the IQCB1 mutation, and I had a normal alleles. My genes, however failed to show up for this particular exchange, and Brian's recessive gene replicated itself and voila!, a one in 80,000,000 gerz was created (actually she's one of a kind). So she literally, as this post's title states, is not wearing her mom genes, at least in that area.
Brian jokes that my 'missing' genes explain a lot about me.
We did find encouraging news from this. Because my genes not showing up for whatever reason is considered a fluke, and because I am not a carrier of the IQCB1genetic mutation, the chances of us having another child with LCA are much smaller than 1:4. Before we found these results, we were planning on having another child regardless of the risk. This news doesn't change anything, but it was nice to know.
Today Audrey is a happy and healthy 21 month old, and we're so thankful for that. We're geared up to see a kidney specialist and a genetic counselor this summer. We will update when we find out more.
Friday, April 22, 2011
An Update We Hate to Make
Brian here.
Sorry we have been so hopelessly infrequent with our updates of late. Unfortunately, we have very sad news to report. As I'm sure most of you know, my Dad passed away on March 28th from metastatic melanoma. He was 61.
The news was not unexpected, but that hasn't make it any less difficult. I think the hardest part for me has been knowing that there were so many things that I know he wanted to share with Audrey, and so many places he wanted to take her, and how much he wanted to watch his only grandchild grow up. Soon, we will plant a tree in his honor outside of Audrey's bedroom window, so that he can always be near her, and continue to watch over her as he did when he was here.
We hope to one day be able to show Audrey photographs of him (more on that in a later update), but we have lots of recordings and videotape of him, so she will know what he was like. As with most people who meet her, we know Audrey brought great joy to my father.
He will be deeply missed.
Sorry we have been so hopelessly infrequent with our updates of late. Unfortunately, we have very sad news to report. As I'm sure most of you know, my Dad passed away on March 28th from metastatic melanoma. He was 61.
The news was not unexpected, but that hasn't make it any less difficult. I think the hardest part for me has been knowing that there were so many things that I know he wanted to share with Audrey, and so many places he wanted to take her, and how much he wanted to watch his only grandchild grow up. Soon, we will plant a tree in his honor outside of Audrey's bedroom window, so that he can always be near her, and continue to watch over her as he did when he was here.
We hope to one day be able to show Audrey photographs of him (more on that in a later update), but we have lots of recordings and videotape of him, so she will know what he was like. As with most people who meet her, we know Audrey brought great joy to my father.
He will be deeply missed.
Thursday, March 10, 2011
We thought we'd post some more recent family photos and pics of Audrey. We had these done at the Organ Pavilion in Balboa Park back in January. That's one of her Daddy's favorite spots in town, and a place we used to frequent back during our pre-Audrey days (whenever those were) when we lived in South Park. I think 2011 is going to shape up to be a big free summer concert year for us--bring on the Chula Vista Mariachi and the SD Klezmer band!
Audrey is getting more and more mobile these days. She's been cruising around furniture, although very slowly and carefully and usually with the aid of a musical toy motivating her. She loves to push around her shopping cart, be pushed on her sit-upon car, and practice taking steps while holding our hands. She now loves to let go of our hands to try and stand all by herself, which she can do for about 10 seconds. She's getting better about balancing every day.
Audrey's favorite things include:
Audrey is growing and thriving. She's become quite social, and loves to play and talk. She's got a very sweet and happy disposition, but she does have a prominent diva streak as well. She's become extremely vocal if things aren't exactly just so, and has learned to throw objects as well as full-body meltdown temper tantrums at her perpetrators, who are usually us. We're working on this one, but all in all, pretty typical toddler behavior. We can see the concentration and dedication on her face as she attempts all of the new things that we ask of her. Her face lights up and she beams with gap-toothed pride as she shows off the many accomplishments already under her elastic waist band, especially when she lets our fingers go to stand all by herself. She's a people-pleaser, but she's got her limits. She can go from zero to witch in an instant.
For the last few weeks, I have been taking a class where I am learning strategies that parents can use to encourage conversation and talk. It's been fabulous. I have discovered that I talk way too much, ask way too many questions, and don't give Audrey enough time to respond. I'm working on being a better conversationalist with my li'l gerz! The class has also really helped me worry less about her and where she's supposed to be by the books, and instead refocus, appreciate, and enjoy Audrey for the wonderful, beautiful person she is today--the absolute joy of our life.
Audrey is getting more and more mobile these days. She's been cruising around furniture, although very slowly and carefully and usually with the aid of a musical toy motivating her. She loves to push around her shopping cart, be pushed on her sit-upon car, and practice taking steps while holding our hands. She now loves to let go of our hands to try and stand all by herself, which she can do for about 10 seconds. She's getting better about balancing every day.
Audrey's favorite things include:
- Singing "Head, Shoulders, Knees, and Toes" She points to her body parts when we sing
- Playing Horsey
- Strings
- Washcloths
- Popping elastic--she always manages to reach in my shirt and pull my bra out to pop it only in the busiest of public places.
- Blowing raspberries on mom's tummy and laughing hysterically--the more chubby, the more funny
- Noisy, jangly necklaces. She's broken 3 in the last few weeks.
- Magnets
- Bucket swings
Audrey is growing and thriving. She's become quite social, and loves to play and talk. She's got a very sweet and happy disposition, but she does have a prominent diva streak as well. She's become extremely vocal if things aren't exactly just so, and has learned to throw objects as well as full-body meltdown temper tantrums at her perpetrators, who are usually us. We're working on this one, but all in all, pretty typical toddler behavior. We can see the concentration and dedication on her face as she attempts all of the new things that we ask of her. Her face lights up and she beams with gap-toothed pride as she shows off the many accomplishments already under her elastic waist band, especially when she lets our fingers go to stand all by herself. She's a people-pleaser, but she's got her limits. She can go from zero to witch in an instant.
For the last few weeks, I have been taking a class where I am learning strategies that parents can use to encourage conversation and talk. It's been fabulous. I have discovered that I talk way too much, ask way too many questions, and don't give Audrey enough time to respond. I'm working on being a better conversationalist with my li'l gerz! The class has also really helped me worry less about her and where she's supposed to be by the books, and instead refocus, appreciate, and enjoy Audrey for the wonderful, beautiful person she is today--the absolute joy of our life.
This gerz has the world on a string. Wish we had a pic of her with a string (she loves them). Instead, Look at how she's perfectly poised, hands in her lap.
And here she is enjoying another beautiful day!
TTFN! (Ta-Ta for now!)
Friday, January 28, 2011
Baby Got Back
Audrey had her checkup with her pediatrician today, so it seems like a good time to send a quick update.
Audrey is a vivacious and healthy girl. She is still off the charts size-wise. She's above 97% in length,and 90% in weight. We did have to get four shots today, however, and she was not happy about that, a fact she did not let me forget for a few hours. It's not been the most fabulous day for our dynamic duo.
Audrey is very much on the go these days, and although she's not consistently walking or crawling yet, she is taking steps when we hold her hands, and has several means of somehow getting where she needs to go. We are so proud of her accomplishments. It wasn't long ago that she was a little bump on a log and her dad and I had to engage her in almost everything. Nowadays she's into everything, and we couldn't be happier about that. She has really learned how to entertain herself too. She has these hilarious laughing jags a few times a day. Her Babs was watching her the other day and said that neither of them could control their laughter for a 20 minute spell. She also gets a real kick out of blowing raspberries on mommy's tummy, and fake falling (when we let her fall and then catch her) She just cracks up! Something about going to the dog park is also hilarious to her--maybe the sounds of all the dogs...something.
She's always been a little motor mouth, but now we're starting to understand some words. She clearly says mama, dada, uh-oh, and up. I've taught her some signs that I find useful and she uses those consistently too. She understands a lot of what I'm saying as well. I'll ask her to do something, like put your hands up, or pat your tummy and she'll do it. It's just a matter of time before she'll be talking up a storm. We did, however, enroll her in an early intervention speech group/study, which starts in a couple of weeks. I don't know if she will have delays in her language development, but we thought we'd check it out.
Audrey got a spot at Alcott Elementary's infant early intervention program. She'll start going in May two mornings a week. There she'll participate in an educational program with both typical children and those with special needs. She'll also get mobility services, and I don't know what else yet. Speaking of mobility services, her mobility instructor came out to visit us yesterday and Audrey got her first ever cane. Although I still find it hard to believe that she is eventually going to be using it every day, I'm excited because I know that it will grant her a lot more independence and confidence at an earlier age than walking unaided would. Her cane is super freaking cute too--so tiny. It's literally a golf driver that has been cut off to about 2 1/2 feet.
Right now, we're just having her play with it and having her tap different surfaces with it. We established a goal that by her birthday, she will be walking holding on to someone with one hand and the cane with the other. Wish us luck!
In other news, I also toured the VI elementary school and that was interesting. I'll write more on that later. We've got company coming over tonight and I need to wipe the couscous off the windows and walls. Good thing we've got Ellison to handle the floors!
Audrey is a vivacious and healthy girl. She is still off the charts size-wise. She's above 97% in length,and 90% in weight. We did have to get four shots today, however, and she was not happy about that, a fact she did not let me forget for a few hours. It's not been the most fabulous day for our dynamic duo.
Audrey is very much on the go these days, and although she's not consistently walking or crawling yet, she is taking steps when we hold her hands, and has several means of somehow getting where she needs to go. We are so proud of her accomplishments. It wasn't long ago that she was a little bump on a log and her dad and I had to engage her in almost everything. Nowadays she's into everything, and we couldn't be happier about that. She has really learned how to entertain herself too. She has these hilarious laughing jags a few times a day. Her Babs was watching her the other day and said that neither of them could control their laughter for a 20 minute spell. She also gets a real kick out of blowing raspberries on mommy's tummy, and fake falling (when we let her fall and then catch her) She just cracks up! Something about going to the dog park is also hilarious to her--maybe the sounds of all the dogs...something.
She's always been a little motor mouth, but now we're starting to understand some words. She clearly says mama, dada, uh-oh, and up. I've taught her some signs that I find useful and she uses those consistently too. She understands a lot of what I'm saying as well. I'll ask her to do something, like put your hands up, or pat your tummy and she'll do it. It's just a matter of time before she'll be talking up a storm. We did, however, enroll her in an early intervention speech group/study, which starts in a couple of weeks. I don't know if she will have delays in her language development, but we thought we'd check it out.
Audrey got a spot at Alcott Elementary's infant early intervention program. She'll start going in May two mornings a week. There she'll participate in an educational program with both typical children and those with special needs. She'll also get mobility services, and I don't know what else yet. Speaking of mobility services, her mobility instructor came out to visit us yesterday and Audrey got her first ever cane. Although I still find it hard to believe that she is eventually going to be using it every day, I'm excited because I know that it will grant her a lot more independence and confidence at an earlier age than walking unaided would. Her cane is super freaking cute too--so tiny. It's literally a golf driver that has been cut off to about 2 1/2 feet.
Right now, we're just having her play with it and having her tap different surfaces with it. We established a goal that by her birthday, she will be walking holding on to someone with one hand and the cane with the other. Wish us luck!
In other news, I also toured the VI elementary school and that was interesting. I'll write more on that later. We've got company coming over tonight and I need to wipe the couscous off the windows and walls. Good thing we've got Ellison to handle the floors!
Sunday, January 16, 2011
Happy New Year!!!
Happy New Year!! Here are some recent photos of 'Littlest'
She loves to move around and pull herself up on furniture. She's not crawling or walking yet, but somehow she gets herself around!
Audrey with her mom, her "G", and Pa
A pic of mom (circa 1978) and Audrey. Mom thinks AP is starting to look more like her!
Lakers Gerz
Loving on her puppy-boy! Don't worry Ellison, only a couple of years and she'll be over the toddler stage.
The glasses are back! Audrey will wear them only when we load on the praise--your glasses are so PRETTY!
Playing in the leaf pile with Erin, our neighbor
The most adorable girl in the whole wide world....ever!
How adorable is the hair?
Her favorite...Head, shoulders, knees, and toes
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