Do you know why the world feels called to help a whole community of people who all live in one place and need water, food and medical supplies - but continually ignores or attempts to placate a dispersed community of people suffering from seizures, unexplained broken bones, breathing problems, inability to communicate or walk without medical therapeutic intervention?
I need to solve this riddle. There's about 360,000 people who suffer from Angelman Syndrome. Scientists have cured Angelman Syndrome in mice. We only need to find a safer medicine to activate UBE3A. Researchers need materials and time. They've committed themselves to finding the best way to turn on an inactive gene and make it express an enzyme so our kids synapses can fire uncluttered. Can you help us, please?
We only need 5million in 2015, 2016, 2017, 2018, 2019. The scientists say it can be DONE with 20million.
Please stop ignoring our dying children. I need my son to be cured before his turn comes. <3 25 babies are born with Angelman Syndrome every day. Your future grandchild, cousin, nephew, niece, sibling, even your future child could be diagnosed with Angelman Syndrome.
Rest in Peace, fallen angels.
In hope for: Jayden, Sophie, Ainsley, Maggie, Emma, Taylor, Brady, Billy, Jonathan, Jonathan, Tecwyn, Tathan, Sean Parker, Sean, and Sean, Maverick, Colt, Colton, Cole, Will and Will, Michael, Jaxson, Ellie, Charissa, Madelyn and all the others I know, and especially the ones I don't know.
Friday, December 13, 2013
Wednesday, December 11, 2013
If you try sometimes, you just might find, you get what you need.
There was an event this past week where many of my friends who have kids with Angelman Syndrome were gathering in Chicago. I bought a ticket, reserved a hotel, arranged for a caregiver, and was set to go. Then, I found a place to move in to. It was supposed to be ready a week before Thanksgiving so I would have two weeks plus the holiday to move. Well, the new landlord underestimated how much work needed to be done and the place wasn't completely ready until Thanksgiving, but I had already given notice that I would be out of my last place by December 9th, figuring if I had any cleaning left to do it could wait until I got back from Chicago. Then when I had taken two vacation days from work, I got sick. Then, I cancelled my trip to Chicago.
I really wanted to go to this event. At this event, some information was released about the success of a recently completed clinical trial of 24 patients. The papers have not been completed yet, but there are going to be subsequent trials. IF we have money to do them.
Not only was I going to be able to hear from Dr. Weeber and be able to ask questions, but I was also going to talk to someone who is researching behaviors of persons with Angelman Syndrome, and has extensive experience improving their sleep.
I was also, like last year, slotted to have a quick hand-shake, photo opportunity and conversation with a celebrity. Much like last year, except last year, the celebrity couldn't attend.
As well as meeting some of my friends for the first time, seeing some again, learning how to better address my son's needs, rubbing elbows with celebrities, and eating a lovely meal, I was also slated to sleep as long as I wanted to, for two nights!
There were amazing raffle items, such as a prop from Saving Mr. Banks, a football signed by Brian Urlacher, a guitar signed by Dave Grohl, Concert tickets to Ravinia, Football tickets, and even consultation time with a world-renowned Angelman Syndrome expert speech therapist, and consultation time with a literacy expert who is also a mother to a child with Angelman Syndrome.
I did not get to experience any of this first hand. I was left home like cinderella, with no transportation. I had a dress, but no pumpkin carriage that could whisk me away to Chicago in time, and still allow me to complete moving all my belongings.
This was not the first event I had to cancel. There have been many events I haven't reserved a spot for myself at, because I knew I just couldn't get there.
If only..... There is a long list of conditions that would have made it possible for me to go.
If only my son didn't have Angelman Syndrome and then I wouldn't even want to go to an event in Chicago in the month of December. I wouldn't need anyone to give me specialized advice. I wouldn't need to teach my child how to do everything. I would be worried about his clothes more than whether he could tell me what he wants to eat, or when he has to use the toilet. If only I was more observant, more "with it," then my son would be further along.
All I have left to say is that I want the cure for Angelman Syndrome even more today than I did yesterday. I NEED the cure for Angelman Syndrome. I am willing to put everything on the line for it. Call me crazy, I just may do it.
I really wanted to go to this event. At this event, some information was released about the success of a recently completed clinical trial of 24 patients. The papers have not been completed yet, but there are going to be subsequent trials. IF we have money to do them.
Not only was I going to be able to hear from Dr. Weeber and be able to ask questions, but I was also going to talk to someone who is researching behaviors of persons with Angelman Syndrome, and has extensive experience improving their sleep.
I was also, like last year, slotted to have a quick hand-shake, photo opportunity and conversation with a celebrity. Much like last year, except last year, the celebrity couldn't attend.
As well as meeting some of my friends for the first time, seeing some again, learning how to better address my son's needs, rubbing elbows with celebrities, and eating a lovely meal, I was also slated to sleep as long as I wanted to, for two nights!
There were amazing raffle items, such as a prop from Saving Mr. Banks, a football signed by Brian Urlacher, a guitar signed by Dave Grohl, Concert tickets to Ravinia, Football tickets, and even consultation time with a world-renowned Angelman Syndrome expert speech therapist, and consultation time with a literacy expert who is also a mother to a child with Angelman Syndrome.
I did not get to experience any of this first hand. I was left home like cinderella, with no transportation. I had a dress, but no pumpkin carriage that could whisk me away to Chicago in time, and still allow me to complete moving all my belongings.
This was not the first event I had to cancel. There have been many events I haven't reserved a spot for myself at, because I knew I just couldn't get there.
If only..... There is a long list of conditions that would have made it possible for me to go.
If only my son didn't have Angelman Syndrome and then I wouldn't even want to go to an event in Chicago in the month of December. I wouldn't need anyone to give me specialized advice. I wouldn't need to teach my child how to do everything. I would be worried about his clothes more than whether he could tell me what he wants to eat, or when he has to use the toilet. If only I was more observant, more "with it," then my son would be further along.
All I have left to say is that I want the cure for Angelman Syndrome even more today than I did yesterday. I NEED the cure for Angelman Syndrome. I am willing to put everything on the line for it. Call me crazy, I just may do it.
Monday, November 25, 2013
So Much To Say
I always have a lot to say. Sometimes I can't articulate it as well as I intend to, and other times - well - to be honest, I think people can be slow to catch on. People with Angelman Syndrome cannot say what is on their mind, with their voices. They "might" have a lot to say, or they might not. My guess, is that it depends on their personality. I kind of think that Sean, my son who is 5, would still be fairly quiet most of the time, even if he had a voice of his own. He does make exclamations at certain points of the day, or during certain activities, but generally, he is a quiet one.
One of his such exclamations came tonight, when he giggled before bedtime. Normally this is not what would occur after a ceiling fixture crashes from the ceiling and shatters on a hardwood floor right next to the bed of a 5-year-old. But in Angelman world, it elicits a giggle. Thankfully, the giggler stayed in bed and did not do too much exploring.
I think this is the 3rd time that glass has broken in the house, and thankfully the only time it has broken in Sean's bedroom. I had to remove Sean from his bed, and take away his big blanket in case it might have tiny slivers of glass in it. I swept and mopped and went over the floor again. I opened the closet door, I cleaned behind everything - including the door to the hallway. Thankfully, I closed the main door before I finished up my cleaning because there were two large pieces of the ceiling fixture behind it, along with some smaller shards. I had to be forceful with my voice to keep my son out of harm's way as I cleaned up.
I am so thankful that he obeyed me, and stayed out of harm's way as I attempted to get every speck of glass dust, and I did not have to restrain him by putting him in a carseat or a stroller/wheelchair. Sean doesn't understand danger. He doesn't seem to understand that while glass is shiny, reflective and beautiful, it can also cause significant damage. Once he managed to get to an empty coffee pot while I was in the bathroom and I returned to the kitchen to find him playing with the broken pieces. Thankfully, he did not have any cuts and it was late, so I gave him a bath and put him to bed before I commenced to cleaning it all up.
Angelman Syndrome is real, it has its horrifying moments when you find your child near some broken glass, unaware of the danger that is so close. Angelman Syndrome also has moments of swollen pride when your child shares their joy with someone, and brightens another person's day beyond comparison.
I am thankful for my son and his endless joy. I do want to "make it all better" and give him the opportunity to express his thoughts, and better understand mine. I expect miracles to happen someday, and I expect my son to grow up and be somewhat independent, at least with his communication. But that's another story for another night.
One of his such exclamations came tonight, when he giggled before bedtime. Normally this is not what would occur after a ceiling fixture crashes from the ceiling and shatters on a hardwood floor right next to the bed of a 5-year-old. But in Angelman world, it elicits a giggle. Thankfully, the giggler stayed in bed and did not do too much exploring.
I think this is the 3rd time that glass has broken in the house, and thankfully the only time it has broken in Sean's bedroom. I had to remove Sean from his bed, and take away his big blanket in case it might have tiny slivers of glass in it. I swept and mopped and went over the floor again. I opened the closet door, I cleaned behind everything - including the door to the hallway. Thankfully, I closed the main door before I finished up my cleaning because there were two large pieces of the ceiling fixture behind it, along with some smaller shards. I had to be forceful with my voice to keep my son out of harm's way as I cleaned up.
I am so thankful that he obeyed me, and stayed out of harm's way as I attempted to get every speck of glass dust, and I did not have to restrain him by putting him in a carseat or a stroller/wheelchair. Sean doesn't understand danger. He doesn't seem to understand that while glass is shiny, reflective and beautiful, it can also cause significant damage. Once he managed to get to an empty coffee pot while I was in the bathroom and I returned to the kitchen to find him playing with the broken pieces. Thankfully, he did not have any cuts and it was late, so I gave him a bath and put him to bed before I commenced to cleaning it all up.
Angelman Syndrome is real, it has its horrifying moments when you find your child near some broken glass, unaware of the danger that is so close. Angelman Syndrome also has moments of swollen pride when your child shares their joy with someone, and brightens another person's day beyond comparison.
I am thankful for my son and his endless joy. I do want to "make it all better" and give him the opportunity to express his thoughts, and better understand mine. I expect miracles to happen someday, and I expect my son to grow up and be somewhat independent, at least with his communication. But that's another story for another night.
Wednesday, October 9, 2013
Empowering our Friends: How You Can Help
When a person first learns their child is going to be a little "different" from the "normal" child, it takes a while to accept and comprehend what that means. As the nights turn into days - yes, that's how it is with Angelman Syndrome - the parents learn more about what it means to be raising a child with Angelman Syndrome.
It means many sleepless nights, it means that your 6-month-old isn't sitting up yet. Your one-year-old still cannot hold his bottle. Your 18-month-old still cannot sit unsupported. Your two-year-old not only has never spoken a word, but you also have not seen him stand up independently, much less walk.
When you have a child with Angelman Syndrome, it is like having a newborn for about a year, and an infant-toddler for 3 more years after that. My son is 5 as of August 2013. So I can't yet make personal comments about anything past this stage. I do feel as though in many ways, my son is growing up, he is seemingly at the preschool-age where he has been walking for about a year, and has said several words, and has several words that are in his vocabulary. "Yeah", "Go" and "Good" are his most commonly spoken words.
So, remember when you (or maybe a friend of yours) had a newborn? Did you experience people bringing meals to you? Did you bring a meal to your friend? Did you ever wish you could just take a shower, sit down to eat, or have a nap (maybe all 3) while someone else helped watch your baby? Did you ever wish for a visitor to come and have "intelligent" adult conversation with you? (Oh, good!! I am glad you have felt this way!) Look up in that paragraph right before this one. The one that says, a child with Angelman Syndrome is like having a newborn for a YEAR. Yeah, I am not exaggerating.
I may even be understating it. So, How can you help? Think back to newborn days.... Sleep is a "hot" commodity. How can you help your friend sleep? Maybe you can offer to come over once a week and do a small chore. wash dishes, fold laundry, vacuum, mow, cook a meal, keep the child safe so the parent can eat, use the toilet or take a shower. Talk to your friend. See what is on their to-do list. Be company. Be compassionate. Listen. Ask questions. Love your friend. Listen.
If you are reading this today, and you know someone who has Angelman Syndrome, go spend some time. Do what you are good at, do something you are comfortable with. If you have uncertainty or are afraid to mess up, just say so. Your friend will likely be very happy that you are making an effort to get to know their child/sibling/relative.
Donate to the medical research and ask your employer if they will match your donation. Share any news you hear about advances made towards the cure for Angelman Syndrome. Share any news you hear about successes regarding a cure for epilepsy. If you hear about a silent auction being held (there is one every December), look at the items online, see if any of them look like great gifts or something you want. See if you have anything that could be donated to the silent auction. Advertise your business in the program at one of the fundraisers. Be a sponsor or volunteer at one of our fundraisers.
If we have something on our Facebook page that has news or information about Angelman Syndrome, read it!! Share it!! Ask us about it!
Participate in awareness events. Wear a denim ribbon on Rare Disease Day (2/28/2014), wear true blue on International Angelman Day (February 15th), and tell people why. Buy shirts, buy bracelets and WEAR THEM - tell people who it is for.
So, I said this was about how you can help. These next few statements are what NOT TO DO. Avoiding these things are good ways to help.
DO NOT:
1)Say you will come over unless you WILL come over. (Headaches, Menstrual Cycles, Pulled Muscles, are not valid reasons to flake on a friend in need.) If you are unsure how to handle this, do not give notice or even discuss plans. Call before you go and tell your friend that you are heading their direction. Leave a voicemail and a text if you do not get an answer. Ask your friend ahead of time, how they want you to handle last-minute drop-ins.
DO NOT:
2) Use the word "retard." Ever. Even if your friend doesn't mind, someone else will. It's just not kind. It is also not accurate for Angelman Syndrome.
DO NOT:
3) Ask when the person with Angelman Syndrome will walk, talk, or be toilet-trained. Basically there is no answer to this. It could be tomorrow, next week, a year from now, anytime between this moment and when there is a cure. There is no point in asking these type of developmental milestone-type questions.
DO NOT:
4) Complain about your child to make us feel better. It doesn't. Your child miraculously met many milestones and likely is able to speak to you about numerous things, and ask you "Why?" a hundred times a day. We would give up a kidney for that.
DO NOT:
5) Brag about things. It's just not kind. When you brag, you are reminding us of what we are missing out on, and believe me - we don't need a reminder. So you may just end up being the one to push us over the edge of sanity when you brag about the awesome new trick your 2-year-old has done.
DO NOT:
6) Give pity. We do not want pity. We want acceptance.
MOST IMPORTANTLY, DO NOT:
7) Disappear. We want people on our side. We want our friends to call us up and act silly or ask for help with whatever it is you used to call us for. We need you now more than ever.
And to close, avoiding these common phrases will also help you maintain a good relationship by avoiding upset. Don't say that your friend is better than you, because you could not do what they do. Don't say God gives babies with special needs to special people. Don't say that God doesn't give us more than we can handle.
Just be with your friend in a healthy way, without judgment and conclusions. I think these are some great things you can do (or not do) to help your friend maintain a connection with you!
It means many sleepless nights, it means that your 6-month-old isn't sitting up yet. Your one-year-old still cannot hold his bottle. Your 18-month-old still cannot sit unsupported. Your two-year-old not only has never spoken a word, but you also have not seen him stand up independently, much less walk.
When you have a child with Angelman Syndrome, it is like having a newborn for about a year, and an infant-toddler for 3 more years after that. My son is 5 as of August 2013. So I can't yet make personal comments about anything past this stage. I do feel as though in many ways, my son is growing up, he is seemingly at the preschool-age where he has been walking for about a year, and has said several words, and has several words that are in his vocabulary. "Yeah", "Go" and "Good" are his most commonly spoken words.
So, remember when you (or maybe a friend of yours) had a newborn? Did you experience people bringing meals to you? Did you bring a meal to your friend? Did you ever wish you could just take a shower, sit down to eat, or have a nap (maybe all 3) while someone else helped watch your baby? Did you ever wish for a visitor to come and have "intelligent" adult conversation with you? (Oh, good!! I am glad you have felt this way!) Look up in that paragraph right before this one. The one that says, a child with Angelman Syndrome is like having a newborn for a YEAR. Yeah, I am not exaggerating.
I may even be understating it. So, How can you help? Think back to newborn days.... Sleep is a "hot" commodity. How can you help your friend sleep? Maybe you can offer to come over once a week and do a small chore. wash dishes, fold laundry, vacuum, mow, cook a meal, keep the child safe so the parent can eat, use the toilet or take a shower. Talk to your friend. See what is on their to-do list. Be company. Be compassionate. Listen. Ask questions. Love your friend. Listen.
If you are reading this today, and you know someone who has Angelman Syndrome, go spend some time. Do what you are good at, do something you are comfortable with. If you have uncertainty or are afraid to mess up, just say so. Your friend will likely be very happy that you are making an effort to get to know their child/sibling/relative.
Donate to the medical research and ask your employer if they will match your donation. Share any news you hear about advances made towards the cure for Angelman Syndrome. Share any news you hear about successes regarding a cure for epilepsy. If you hear about a silent auction being held (there is one every December), look at the items online, see if any of them look like great gifts or something you want. See if you have anything that could be donated to the silent auction. Advertise your business in the program at one of the fundraisers. Be a sponsor or volunteer at one of our fundraisers.
If we have something on our Facebook page that has news or information about Angelman Syndrome, read it!! Share it!! Ask us about it!
Participate in awareness events. Wear a denim ribbon on Rare Disease Day (2/28/2014), wear true blue on International Angelman Day (February 15th), and tell people why. Buy shirts, buy bracelets and WEAR THEM - tell people who it is for.
So, I said this was about how you can help. These next few statements are what NOT TO DO. Avoiding these things are good ways to help.
DO NOT:
1)Say you will come over unless you WILL come over. (Headaches, Menstrual Cycles, Pulled Muscles, are not valid reasons to flake on a friend in need.) If you are unsure how to handle this, do not give notice or even discuss plans. Call before you go and tell your friend that you are heading their direction. Leave a voicemail and a text if you do not get an answer. Ask your friend ahead of time, how they want you to handle last-minute drop-ins.
DO NOT:
2) Use the word "retard." Ever. Even if your friend doesn't mind, someone else will. It's just not kind. It is also not accurate for Angelman Syndrome.
DO NOT:
3) Ask when the person with Angelman Syndrome will walk, talk, or be toilet-trained. Basically there is no answer to this. It could be tomorrow, next week, a year from now, anytime between this moment and when there is a cure. There is no point in asking these type of developmental milestone-type questions.
DO NOT:
4) Complain about your child to make us feel better. It doesn't. Your child miraculously met many milestones and likely is able to speak to you about numerous things, and ask you "Why?" a hundred times a day. We would give up a kidney for that.
DO NOT:
5) Brag about things. It's just not kind. When you brag, you are reminding us of what we are missing out on, and believe me - we don't need a reminder. So you may just end up being the one to push us over the edge of sanity when you brag about the awesome new trick your 2-year-old has done.
DO NOT:
6) Give pity. We do not want pity. We want acceptance.
MOST IMPORTANTLY, DO NOT:
7) Disappear. We want people on our side. We want our friends to call us up and act silly or ask for help with whatever it is you used to call us for. We need you now more than ever.
And to close, avoiding these common phrases will also help you maintain a good relationship by avoiding upset. Don't say that your friend is better than you, because you could not do what they do. Don't say God gives babies with special needs to special people. Don't say that God doesn't give us more than we can handle.
Just be with your friend in a healthy way, without judgment and conclusions. I think these are some great things you can do (or not do) to help your friend maintain a connection with you!
Assumptions
When You Lack Data You Make Assumptions
My son cannot speak.
This blog title says Angelman Syndrome is Real.
Using those two bits of data, what do you know, and what do you assume?
What questions do you have?
Please comment.
My son cannot speak.
This blog title says Angelman Syndrome is Real.
Using those two bits of data, what do you know, and what do you assume?
What questions do you have?
Please comment.
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