Wednesday, April 29, 2009
I did want to share a link with you. My uncle was a HUGE hockey fan. The LA Kings have honored my uncle on their website. What a way to honor him. He would be thrilled.
There is also information on the article about an exhibition game taking place in Ontario, off of Euclid Ave this Sat night. All donations will go towards my aunt and 2 cousins. Hope to see you at the ice as they make a tribute towards my uncle and his family.
.... PS Thanks to all for the wonderful messages.
Also feel free to pass on information about the exposition game. We would love to have many people there paying tribute!! It's the only thing we can do right now, to stay positive, as we begin the pre preliminary trial tomorrow.
Tuesday, April 21, 2009
I'm not trying to get sympathy here, simply stating facts. We have all experienced sadness. This comes down to this being life. We never know when your family will be faced with tragedy, sadness, grief. I have been living in fear since the passing of my uncle. I'm scared to say good-bye to my husband as he walks out the door for work each morning. I'm worried when my son is at preschool, even though he is in good care. I check on my boys 10 times a night (no exaggeration). When I hear about an "accident" on the freeway on the news, my heart sinks wondering if it's someone I love. Every siren that I hear, I wonder if it's for my family or friends that just left my house. My heart skips a beat when the phone rings. I worry that another illness-type disease will strike my children, my husband, myself.
I'm just scared.
I cannot have this adversity and sadness and heartbreaking grief stop me from living. I cannot, and will not instill this fear into my children. I refuse to have Landon look in my eyes, and see fear when he says good bye to me in the morning. I refuse to hold Gavin each morning, and have him feel the tears and the worried tone to my voice. Living with caution is very different than living in fear. It's something I need to work through, and I know I will.
Each and every moment is vital to our life. The joyous, happy occasions, to the gut-wrenching sorrow, sadness and grief. They are important. They are our moments, it is our life, it is these emotions that validates us as humans. To know and understand the good and the bad of what we experience and what we feel contributes to the big picture that we were given a life. An opportunity to feel, love and experience. We were born, we are important. We are human.
But knowing I have succeeded by getting through the dark moments, is what I need to remind myself as I feel the pain, the sadness, the longing.
They are all vital. Even the sad moments. They all affect the whole.
I need to remember the sadness that fills my heart for my son, for my family, is all part of life. My life. I'm grateful I am blessed to have a life and feel every emotion. I was given a chance. Something difficult at times to understand, but it is what it is. We are all here to experience this, but making them momentous and touching to one another means more than having it, I think.
Good times. Bad times. Happiness. Sorrow.
Monday, April 20, 2009
Please say a quick prayer for my family. There are so many people affected by such a tragic, sudden loss of a wonderful man, my uncle, taken so senselessly. He leaves behind a beautiful wife and two young boys.
Please hug those around you. My uncle was returning from an outing with his wife and son. Pulled up to his driveway, walked to get his mail from the front yard, and was killed.
Just like that.
My aunt and cousin witnessed the horror. He was 42 years old.
I just don't understand life sometimes. My heart is torn. It aches for my dad who lost his baby brother, for my wonderful grandma who lost her youngest child, and for his wife who lost her life partner. My cousins will go through life not having their father by their side, like he was everyday.
I am just lost. Spiritually, emotionally, and mentally.
I hope as the days go by, I can gain strength, and my heart can heal from all the pain I feel for my entire family. We are very close knit, and to see my family endure such pain is something I have never experienced, nor can put into words.
Love you uncle Richie.
Monday, April 13, 2009
I found some interesting information in a published report "Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles" by the The Association for Research in Vision and Ophthalmology, Inc.
I will stay away from posting all the very scientific medical jargon that will just leave you more confused. I love science and medicine, and it's taking me a while to digest all the compound, enzyme, protein names affected by the 6 identifying chromosomes on the DNA causing LCA. For now I will just post some number facts that I found interesting.
The odds of detecting a third allele (not heterozygous or homozygous) means it would be a new mutation of the disease in our family. Since Gavin is the first, it's possible. Different forms of one type of gene are called different alleles of that gene. Mutations are random events that change the sequence of a gene and therefore create a new allele. It's all possible Gavin carries the new mutation.
The incidence of LCA is estimated to be between 1 in 50,000 and 1 in 100,000 persons (i.e., approximately 1/75,000). Assuming that six LCA genes account for approximately 50% of the cases, we could expect a total of 12 LCA genes, resulting in 1 in 900,000 individuals harboring a specific genetic form of LCA. This means that 1 in 225,000 marriages is at risk, and that 1 in 474 individuals carry a specific LCA-associated genetic defect. Therefore, it is expected that 12 of 474, or 1 in 40, individuals are carriers of a disease-causing LCA mutation by chance.
When it all gets narrowed down, 1 in 40, is rare, but not that rare. Of course, that is just individuals who are carriers of the disease (Troy and/or myself). That means the mutation can happen with just one parent carrying the genetic defect, if it shows both me and Troy are not recessive carriers for vision loss.
- Contacted the Braille Institute again, hopefully Gavin can soon be assessed so we can start getting some home visits to help his development.
- Contacted Johns Hopkins, Univ of Iowa and Univ of San Diego. I am hoping to get some information to submit our blood work to get the gene identified, as well as speak to the Doctors about the option of gene therapy. Of course this is all down the line, but no better time to start, than now. The paperword for this submittal I have read can be down right excruciating!
- Contacted the Center for Partially Sighted. They will also assist us with helping Gavin. They have specially programs designed just for infants. I am also anxious to speak to them.
- Gavin is very light-sensitive (photophobic). This is a symptom of his particular vision loss. With summer fast approaching, we are going to get him fitted for some baby sunglasses. I am hoping to do that this week as well at the Child Vision in Brea.
- With that being said, he constantly rubs his eyes. I mean CONSTANTLY. We were instructed to get him to not do this. It has been extremely difficult. It is like putting a bottle to his mouth, and telling him to not suck on it. I don't know how to get through this, but one day at a time. I am hoping he can also get some regular glasses (clear lens) for indoors without a prescription, to try to get him to not rub as much. This is called oculo-digital reflex. This can lead to sunken eyes, which Gavin is already getting.
- Phone call placed and letter is being requested from the last Dr. we saw and hopefully he can send the insurance the letter to encourage them to have us see Dr. Lee.
- I spoke to Gavin's pediatrician last week to get him on antioxidant supplements. Gavin is his first patient with severe visual impairment, so his pediatrician is speaking to the specialist to gather some more information. Hopefully he can get on this vitamin therapy soon.
- I registered us for the "Families Connecting with Families International Conference", which will be held July 17-19. I am looking forward to this, I am sure it will be another information overload weekend, but a learning experience nonetheless.
- I am ready to battle the insurance. The wait is long enough, and at wits end. Time is passing, and we have our hands tied until the ERG is done. I don't want it done anywhere else BUT Children's Hospital LA with Dr. Lee. Wish us luck with this one, the boxing gloves are on. I have agreed with my husband to wait until the letter is submitted, which I am complying to. If we don't have an approval within their 7-10 days, game on. I'm done waiting. Battle will begin.
- I think I need another visit to the Child Psychologist. I have some more questions since we last visited, and she provides some clarity. I am setting another appointment to see her.
- I am gathering the material to start on Gavin's activity blanket, complete with different patterns and textures to stimulate the senses. We are also working on his tiles, I will post more about this when they're complete. I'm hoping the blanket comes out good, and possibly thinking of selling them and having proceeds going toward the Foundation for Fighting Blindness.
... Wish us luck for a very busy, but hopefully productive week in the direction of moving forward to the next steps in all areas of what we are trying to accomplish.
Saturday, April 11, 2009
by Emily Perl Kingsley
I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this...
When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome To Holland".
"Holland?!?" you say, "What do you mean "Holland"??? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy"
But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around…and you begin to notice that Holland has windmills...Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy...and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes that's where I was supposed to go. That's what I had planned".
And the pain of that will never, ever, ever, ever go away...because the loss of that dream is a very significant loss.
But...if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things...about Holland.
Tuesday, April 7, 2009
We just got home. No kidding. Our appointment lasted 3 hours, we rushed to drop Gavin off with my dad, Troy and I shoved a Subway sandwich down our throat and we ran to our Little League board meeting. The meeting ended at 10:40PM and we still had to run to Ontario to pick up the boys.
Troy and I have yet to even discuss the new information presented to us from our appointment.
As we were devouring our sandwich, we agreed to discuss things tomorrow. We knew we had our meeting to get to (that we were already 20 min late to) and I didn't have any energy left to discuss anything at that point. We both just shared with each other, how sad it was to see these 2 little blind boys, one age 5 and one age 6 making their way around the doctors office. I was brought to tears, and Troy just got quiet and put his head down. We were both feeling the same emotions at getting a glimpse into Gavin's life a few years from now. It was a bittersweet moment. It was hard to see these little guys trying to feel their way around. It was also great to see they were still boys, and wanted to play with each other and listen to music on their dads phone. They were as happy and defiant as any child their age would be. Sight or no sight.
I am going to have the information digest and sit with me overnight. I still cannot tell you everything we learned. I guess this is one way of me trying to clear my mind and organize my thoughts. These are the things we did learn:
- Suspect Gavin has Leber's Congenital Ameurosis (LCA). Those American Idol followers, it's the same disease Scott has.
- Gene therapy for this disease is in the works. 8 children have been cured during clinical trial studies. FDA has not approved it.
- That being said, and where they are with this study, this will be an option during Gavin's lifetime. (Yes, I'm crying as I type)
- It is a genetic disorder. Troy has it, I have it, or we both have it. Landon can have it, but just carry the dominant gene and display no symptoms. Gavin has it and is a carrier, caused by one mutation from either Troy or I, or by us both having the recessive gene. Since Troy and I possibly are the carrier, it means we have it but display no symptoms.
- The Johns Hopkins Center for Hereditary Eye Diseases that indicates three genes associated with LCA: chromosome 17, a 65kD RPE protein, and CRX on chromosome 19
- I am even more intrigued with DNA.
- We need blood work done on Gavin, Landon, myself, Troy, and family members (probably grandparents and siblings) to recognize where in our family this gene resides. This blood will be sent to 3 facilities across the country who will test and see if he can qualify for gene therapy.
- Gene therapy is miraculous. I cannot believe they can do this stuff. That is for another post when I have more energy.
- LCA is a rare type of disorder. I have seen the numbers range from 1 in 40,000 to 1 in 800,000. Variances of the disease is hard to pinpoint the exact number affected.
- I have even more conviction and validation to support the Foundation for Fighting Blindness. FFB funds these clinical trial studies that are curing people and will cure people, like my son one day.
- Yay for Gavin's Groupies!
- We need to get Gavin fitted for sunglasses. Hollowing of the eyes is common with vision deficiencies, and his constant rubbing is not helping. I have noticed his eyes appear much deeper the past few months. The glasses will also help with his sensitivity to light (photophobic).
- I have to look into antioxidant supplements for him. Vitamin therapy is HUGE for vision loss. It can slow down the degenerative disease, and this is for all eye diseases across the board, not just LCA.
- I have contact numbers for about 10 agencies I need to call tomorrow regarding gene therapy, developmental therapy, genetic testing and antioxidant supplement, etc, etc...
- Troy and I need to make a decision to go with this Dr or fight the insurance and stick with CHLA.
- I am thankful my cranky self went along with this appointment. We did get some more insight, and we have a lot of discussions ahead of us. We need to figure out what we are doing.
- I'm exhausted and off to bed.
- I am still bothered with the insurance.
Monday, April 6, 2009
I am not a happy camper.
Gavin will have to have his eyes numbed, then dilated, then specula/speculum inserted (possibly). He will have to lay on my lap while I hold his arms and legs down and Troy has to hold his head still. All the while he is screaming as the dr. probes to get a good look at his retina and optic nerve. This will be the 4th time he has had to undergo this. This doctor will tell us what we already know. "Blah blah, he has a form of retinal dystrophy, blah blah... but I won't know until the ERG is done... blah blah blah."
I don't mean to sound... well, mean. It's just frustrating to know he has to go through another 3 hour "observation" appointment for another specialist to tell me, that yes, my son cannot see. Lovely.
All of this, just to show the Insurance Company we are complying with their wishes to see this doctor. Whatever.
The objective of this appt is to get this Dr, to wash his hands of Gavin as a patient, and tell the insurance company that he is in better hands with Dr. Lee at CHLA. Let's see if that happens. I have optimism, but it's dismal at this point. I am hightly irritated. I don't want the window of opportunity to close in on us for the clinical trial study. Dr. Lee says he gets the best reading from the ERG when the patient is between 4 and 6 months. Gavin was 6 months last Thursday.
This all comes down to money. The insurance gets paid either way. It's down to playing a game now and who "is responsible" even though everyone gets paid. Boggles my mind.
I was informed to"NOT get crazy" and play nice with the insurance. My husband knows I am on my last straw. We both are. Anyhow, don't mean to sound too frustrated, it's just a little difficult to hold it in. I am most upset about Gavin having to undergo this just to play politics and follow protocol, so we look good on paper.
His eyeball probing tomorrow will be disturbing and is NOT necessary.
I'm glad the game playing by the insurance deems it necessary. I would like to invite them to the 3 hour exam and restrain my son, and try to comfort him as he lays helpless, forced to fight the restraint of his parents grip, and writhe in anxiety, fear and discomfort. I would also like to invite them back to our home and try to keep him comfortable when we return from our appointment. The following hours after eye dilation are also not a walk in the park. He is not in pain (I don't think), but he is even MORE sensitive to light due to the dilation. That will last through the night. I would like them to observe the necessity of this. All so it looks good on paper. With no real understanding of what my son has to endure.
I'm sure they are busy though and cannot make it.
What a shame.
I apologize for the negativity of this post. I hope this Dr. can point something out to us we don't already know.
Wish us luck...
Friday, April 3, 2009
Since Gavin's findings, I have been reading and researching every article I can get my hands on that pertain to eye health. I believe knowledge is power, and sharing knowledge, even more powerful. We all need to be our own advocate for our health, and the health of our children.
I read an article this morning, courtesy of Johns Hopkins and National Eye Institute. It states although vision problems in preschoolers are rare, they are more common than once thought. It also states children with easily treatable vision problems go untreated. The study showed that 5 percent of the 2,000 children who were followed had a defect in the eye's ability to focus light significant enough to require treatment. Undetected and untreated refractive errors can cause loss of visual activity and lead to amblyopia (lazy eye) and strabismus (crossed eyes) which is hard or impossible to reverse after age 7.
The thing with vision is a baby, toddler or even child for that matter doesn't know how vision ought to function. They cannot tell you what they are not seeing, or the problems that exist, because they don't know what they don't know. It's normal for them. Most of these concerns are raised by the parent or someone close to the child who notice behaviors that might suggest abnormal visual function.
If you see changes in your childs eyes, PLEASE express the concerns to your pediatrician.
- physical changes such as 'floaties' in their eye
- droopy eyelid (not all the time is it caused by tiredness)
- excessive rubbing of the eyes
- extreme light sensitivity
- bulging of the eyes
- crossed or wandering of the eye, or 'shaking' of the eye
- the child's head turns or tilts when looking intently
- white pupil in either one or both eyes
- eyes tearing or wet-looking when not crying
- any changes of the eye in color, shape, size
- any type of injury involving the eye or surrounding tissue
From personal experience, I can say the tests given to the newborn at the hospital AND with well visits from the doctor every month will not always show there is a concern.
GAVIN PASSED EVERY SINGLE EYE TEST!
He passed the red light test, he passed the pupil dilating test, and he passed the light stimulus test in the hospital as well as every well-visit to the pediatrician.
I pushed and pushed and that is how we came to have him see his specialist. I am not trying to pat myself on the back here, but only to show, we as parents need to not just rely on getting the checkmark on our child's checklist of tests passed. He was given the OK.
On medical records his vision was normal.
I knew it wasn't. His pediatrician looked at his eyes for a good 5 minutes in each eye watching the way they dilate, etc. Gavin's eyes dilated fine, and reacted to light fine, and there was no concern physically in which the pediatrician saw. We went off my feeling that something was terribly wrong, and I got the referral to the specialist. It was not until the specialist dilated his eyes and looked at him with the scope could he see the back of the eye, and see the atrophied areas of the retina.
If you see ANY kind of changes in your infant, toddler or child, please don't wait! Express your concern, and continue to until someone listens. If there are not any physical changes you see, but in your gut 'something is just not right'... please listen. We were given instincts for a reason! Please don't dismiss them. Most of these eye problems in children CAN be treated. If left untreated, it can lead to more severe, irreversible problems.
Preserve your sight, and that of your children. Eye problems CAN occur suddenly and unexpectedly. Recognizing their signs and symptoms and knowing what to do is vital to preserving one of the most essential of the five senses.
Please share this information with others. We need to empower one another.
Thursday, April 2, 2009
Kids in Pirates uniform are the "buddies"
End of game hand shake
Even Gavin enjoyed it!
Wednesday, April 1, 2009
By the time we figured out our dozens against those that donated, we were a few dozen short. Yes, a few, as in like five dozen. We ate/snacked all day long on these darn things. We had to at least try one from each batch to make sure they tasted ok, bakers dozen right? LOL
We hand wrapped every 2 cookies in saran wrap. A dozen cookies were placed in a white paper bag. We put an orange ribbon attached with a "Thank you" little charm, and an ingredient list was placed on the bag in case we had anyone with allergies. Phew! Lots of work, but ton of fun.
Here are some photos of the bakers. My grandma is one of the best people in the world. The epitomy of the word "grandma". I admire, adore and respect her so much, as a person and as a grandmother. She is a beautiful person inside and out, and I love her very much. I am grateful my children are blessed to be a part of her life. Love you grandma!!!
When I arrived early in the morning, she already had all these done!
Landon even helped with a batch or two. He liked rolling the balls in the sugar. He learned all about germs while baking, cross contamination, etc. We were germaphobes! My grandma sterilized everything she baked with.
My sister with her good handwriting, hard at work putting the "Thank you" on the tag.
Making progress on day #2. 100 dozen baked, and my mother-in-law attaching the ribbon.
I got a picture of grandma with the very first completed bag. All in the name of her great-grandson.
I am trying to get this to be a business for my grandma. She already has baked as favors for weddings/showers/partys. She also has made them for people to send to others as a gift for birthdays, congratulations and "just because". She always has done it as a hobby, but I am hoping to get it going for her as a legitimate business. She already told me proceeds would go towards FFB. How awesome would that be! Keep it in mind for your next event. Email me if you would like a price list.
I wanted these cookies as party favors for my baby shower. The below is a picture from my baby shower with Gavin. We did not want to know what we were having, so we went neutral with colors, etc. They looked so cute individually wrapped with ribbon. The sticker on the front is hard to see from the glare, but it is two baby feet.
They looked very cute next to the cake, with the alternate matching polka dots to tie in the black/white/lime green colors.
Landon had fun passing them out, and as he did, he said "Thank you for being here for my mom an dad and baby sister or brother". :)
Pamela was inspired and created a website Creations 4 a Cause. She takes beautiful photos of flowers and butterflies and puts these pictures on cards. The inside of the card is blank, and are great for everyday cards or can be used for special occasions. The hussle and bussle of life makes email, texting so much easier - but nothing has that personal touch than receiving a card in the mail! Even if it's just to say hello.
Please browse her gallery of beautiful photography. Proceeds from ALL sales go towards the Fondation for Fighting Blindness. This is a woman, who is just grateful for her eyesight and for the health of her children, and is doing something to help others.
Thank you Pam!
Gavin is starting to say the word "ball". It's adorable when he gets on a roll. I took some video, and it's a little long, but he starts to say it at the beginning and again at like 0:40 and 1:20. I despise hearing my voice - so just fast forward! LOL
Also, the child psychologist we have been talking to, informed us the best way children learn to say words is when you use them in sentences. Example, if you want them to say "ball", you talk about the ball. "Where is the ball", "Do you see the big ball", etc... You're supposed to steer away from just repeating the word "ball" "ball" "ball". Of course, crazy mom over here is like 'ball ball ball' all throughout the video! I remembered halfway through. Learning curve for me!
I love watching the innocence in babies and seeing his lips quiver trying to make the right movement to get the sound out. If you notice him rubbing his eyes, he does this constantly. One of the specialists told me it's very common in babies with vision loss. It's called ocular stimulation, or something like that. He's trying to get his eyes to see more than he does by rubbing them. Also, his lower eyelids are turned inwards and so his lower lashes touch his eyeball. There is a quick procedure they can do to fix this, but we are giving him a few months to see if the lower lid folds out normally and on its own. I think that also causes some irritation. That has nothing to do with his condition, the doctor told me it's common in Asian heritage (which is on my husbands side of the family).
He also says "momma" and "dada". Of course we as parents swear that's what they're saying, it's probably just more elite babble talk!
He also started eating cereal and we started carrots and peas. It's a little messy, as it always is, but I had to learn a couple of tactics since he can't see the spoon coming towards him. I tap the bowl with the spoon and say "Open" and that's his cue. He's been catching on. It's so stinkin cute! Here are some pics...
Age 5 is HUGE! I was a sobbing fool the night before as I was saying goodnight to him, and goodbye to the 4 year old boy. The morning of his birthday, we opened gifts, jumped in the car and stopped to grab some bagels to go (he loves eating on the go in the car, especially bagels) and we headed to the LA Zoo. We came home to my mom, sister and Troy's mom and neighbors at the house with cake and ice-cream. He had a busy, fun day.
I am so grateful for Landon. He truly is one of the most amazing people I have ever met. Yes, I'm his mommy - I should feel that way! He loves playing AYSO soccer, he loves currently playing Tball, he is looking forward to his piano lessons and he loves life! He's like his mom, he is always on the go. Him and I together, drive Troy bonkers. LOL
I am grateful, he is the big brother to Gavin. I never knew how touching it would be to see siblings interact. The bond between them brings tears to my eyes just thinking of it. The way Gavin caresses Landon's face when he speaks to him is something I can't explain. I know Landon will take good care of Gavin as the years go on. He will be a loving force in his life, and help him over the obstacles he will face. I am truly honored to have these two boys as my children.
Happy 5th Birthday big boy! You make me proud, and am so grateful God chose me to be your mom. Thank you for being such an amazing big brother! We love you...