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Williams Syndrome is a rare genetic disorder characterized by developmental delay, unique personality characteristics, distinctive facial features and cardiovascular disease. Etiology of WS is a 1.5 microbase deletion on the long arm of the 7th chromosome. Approximately 25 genes are affected in a typical WS deletion, although some can be longer. WS was identified in the early 1960s, in 1993 its exact etiology was identified and diagnoses via blood test became possible. There is some controversy about the rate of occurrence, but estimates generally seem to be between 1/7,500 and 1/10,000 births. There are approximately 20,000 people with Williams Syndrome living in the United States. Medically, WS carries with it a huge list of possible conditions, such as musculoskeletal problems, dental abnormalities, kidney abnormalities, hernias, feeding difficulties, elevated blood calcium levels, hyperacusis (extremely sensitive hearing), attention deficit disorder, sleep disorders, anxiety disorders, and cardiac and blood vessel problems. Supravalvular Aortic Stenosis (SVAS) is a hallmark of WS. My son was born with mild SVAS, which he has grown out of in the past 5 years. At his last cardiology appointment, there was no longer any evidence of narrowing. He dodged a major bullet on that one, many are not as lucky and end up having multiple open heart surgeries within just the first few years of life. People with Williams Syndrome have distinctive facial characteristics and all look quite similar to each other. My son has a friend who is about 5 months older than him, we are not in any way related to the other child; they look like brothers even to me. Strangers have mistaken them for twins. Features include a small upturned nose, long philtrum (length from nose to upper lip), wide mouth, full lips, small chin, and puffiness around the eyes. People with Williams Syndrome are generally very friendly and talkative, but have difficulty having deep meaningful conversations, so they are quite good at being social butterflies, but they have trouble beyond the initial meeting. They can be socially quite naďve and trusting and fail to understand that someone smiling and seeming friendly doesn't mean their intentions are good. Children with WS have a known problem with willingly going with anyone who asks – in September of 2012, an 11 year old boy was lured out of a supermarket in the UK while his mother’s back was turned by two teenagers he did not know. Luckily, a stranger on the public bus thought something seemed odd about the way the older boys were treating him, interceded and took the boy to a police station. Everyone with Williams Syndrome has some form of developmental delay, the severity of which can range wildly. There are generally very large deficits in mathematics and spatial reasoning, while language is an area of relative strength. Interestingly, language is generally very delayed – frequently children with WS do not become verbal until 3-5 years old. The common experience among everyone I know who has a child with Williams Syndrome was that it seemed like our kids never talked, then they just started speaking in complete sentences and now they never shut up. This isn't *quite* true – they don’t just wake up one day speaking complete sentences, but once language starts to come, it is generally a very rapid acquisition. Williams Syndrome has a really interesting association with music. This is not to say that all people with WS have an affinity for singing or playing an instrument, they are much like the typical population in aptitude. But studies and brain imaging shows that the brains of people with Williams Syndrome process music differently than the brains of typically developed subjects. All the people I know who have Williams Syndrome say that music speaks to them, and it’s really quite apparent that it does to a much more profound degree than I could ever imagine. When my son was 3 months old, he would cry whenever he heard a song in a minor key. There are still certain songs that cause him to burst into tears, not because he’s got any actual negative association with them, but just because they are sad sounding songs. He sings constantly and can hear a song once and then hum it exactly even days later (and lucky for him he got his mom's pipes so he can actually carry a tune, unlike his father). Some of the first things he said when he learned to talk were lyrics to songs. There is a really large body of research being done on subjects with Williams Syndrome. My son is involved in several studies. We are very excited at the prospect of him losing his baby teeth soon because in our house, the tooth fairy comes in the form of a mailing bag that takes the tooth off to a laboratory where they grown brain cells from it! Fun fact: In 2010, a study was done that identified people with Williams Syndrome as the first human population with a complete absence of racial stereotyping. They gender stereotype just like the rest of us though!  So here’s my son Liam. He’s 5 ˝ years old and in Kindergarten this year. In June of 2012, he had 2 words: “More” and “Eat”. Now he can say the Pledge of Allegiance (not exactly clear as a bell, but he can say it). Yeah…it happened that fast. He was born at 34 weeks gestation, spent the first month of his life in NICU. He’s been hospitalized 10 times since birth and had 5 surgeries (He’s one of the lucky ones – no heart surgery!). He’s been receiving physical therapy and occupational therapy since he was 6 months old, speech therapy since he was 2. He just started music therapy in school this year. He didn't sit or crawl until he was 13 months old. He didn't walk until 25 months. He had hypercalcemia until he was almost 2 years old and had to drink a prescription formula that had low calcium and no vitamin D in it. He’s spent a total of 5 months of his life in a spica cast (mid chest to knee or ankle on both legs depending on which time he was in the cast, in a sitting position, with a big hole in the bottom for me to shove diapers in – that was a real joy, I assure you) Liam loves to swim and jump on his trampoline (and bed) and he loves music. He got a piano for Christmas and has just started piano lessons. He is happy and friendly and cute as a button. He knows it too, and will use it to great advantage to avoid aversive tasks. He still wears diapers and doesn't eat anything more solid than baby food – but we've just started ABA therapy in the hopes of changing both of those things. He’s very popular at school, there’s always someone calling out his name or giving him a high-5 in the hallways, but it’s not really an equal relationship, the kids all love him like a baby brother or a sort of mascot. He had a very good friend in his pre-K program, but they ended up at different school sites for kindergarten and unfortunately their therapy schedules preclude getting together outside of school hours. modedit: Here's an earlier thread about Liam for those interested. Somebody fucked around with this message at Mar 3, 2013 around 16:40 |
| # ? Jan 20, 2013 11:00 |
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| # ? May 18, 2013 14:24 |
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He is very cute. Does William's Syndrome have soft markers or anything that can be picked up with the general ultrasounds and whatnot during pregnancy, or is it something that you have to have specialised testing for - like amniocentesis as you do for Downs? Is it included in the genetic testing that is done with a CVS or amnio? Did you know he was going to have WS before he was born or was it discovered afterward? Did you have time to prepare for the issues he may/does have?
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| # ? Jan 20, 2013 11:18 |
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iwik posted:He is very cute. Seconded! The whole music-thing is fascinating to me. Do they tend to be very good at music as well? Provided they have a good voice, would they work well in a choir-setting or an orchestra with the focus and following strict instructions that that would entail? I guess what I'm asking is if the affinity for music works in ensemble settings as well. Thank you 
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| # ? Jan 20, 2013 11:28 |
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iwik posted:He is very cute. There are no soft markers for Williams Syndrome. Diagnosis is done via a test called a FISH test - flourescence in situ hybridization, using a specific fluorescent marker for the region containing the elastin gene. In a regular chromosome test, the deletion in Williams syndrome cannot usually be identified, especially in the amniocentesis chromosome test. We did not know that he had WS until he was 4 months old. We did know that he was likely to have problems, because I was induced at 34 weeks due to the fact that he had stopped growing and the perinatalogists wanted him OUT so they could fix what was wrong rather than just leaving him in there and watching him possibly die. There was a team on standby to check him over and get him to NICU as quickly as possible. His lungs were underdeveloped and he needed lung surfactant right away, so I only got to see him for about 2 minutes before he was whisked away. Unfortunately, his lung tissue was so paper thin that he developed a pneumothorax the next day and he ended up with a chest tube for a week. We were expecting him to be in the 3 lb. range at birth, but he surprised us by being a gigantic - over 4 lbs! I believe that his prematurity actually delayed diagnosis. He had a prematurity-rlated heart murmur that masked his SVAS initially. He also had multiple problems that are directly related to Williams Syndrome, but are also relatively common in preemies, so for the first 3-4 months, each problem that came up was written off as "oh, well he was a preemie so that just happens." Eventually, his pediatrician started to get suspicious because, in her words, "You can see all these things in a preemie, but you don't usually see ALL of them in THE SAME preemie. It just seems...odd." So she sent us to a geneticist who did a preliminary diagnosis basically by looking at Liam's face and then ordered a blood test to confirm.
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| # ? Jan 20, 2013 11:43 |
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Sockmuppet posted:Seconded! They tend to be very *interested* in music. This doesn't always mean they are good at it. We're a very musical family though - I studied opera and my husband plays violin, although he's got very inflexible vocal chords so he's a terrible singer. Liam sings very well and can pick out songs on a piano independently. He got a piano for Christmas and a few hours after he got it, I heard him over there figuring out the tune of Jingle Bells. Unfortunately, the spatial issues most people with WS have makes learning to read music VERY difficult, if not impossible for them. However, they have incredible auditory learning and rote memorization skills, so there's a good likelihood he will be able to learn a lot of songs by sheer memorization. As for an orchestra or chorus, I think probably within reason. However, there's the whole ADD and impulse control issue to deal with as well, so I think it probably depends on the kid. When my kid is singing a song, he is LIVING that song. He's gotta move with it, he can't stand still. Here's a chorus full of people with Williams Syndrome singing with Darius Rucker at the 2011 Country Music Awards. http://www.youtube.com/watch?v=uvhuwvZKN84
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| # ? Jan 20, 2013 11:57 |
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Oh man, I love the older man in the back row, he's grooving!  They've got the most important thing about music down pat, the way it enriches your life and makes you feel. Reading sheet music is nothing compared to that. It sounds like your son lucked out on the family he got, my mother has always been very musical, and I can't remember ever not singing, playing and listening to music both with her and alone, and I'm so grateful for growing up with music like that.
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| # ? Jan 20, 2013 12:18 |
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I read on the other thread that you said he probably would never be able to learn to read music because musical notation is difficult for people with spacial issues to read (due to how the notes look similar, you have to determine their point on the staff, etc). But that's just an arbitrary method of notation. There are many other ways to write music. It seems like there could be a system out there that is easier for people with spacial issues to grasp, don't you think? It's just unfortunate to me that someone who loves music that much may be limited due that.
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| # ? Jan 20, 2013 16:51 |
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What will Liam be like as an adult? Will this syndrome do anything to hinder him from being an independent grown-up? Are there varying degrees of Williams Syndrome? That is, are some people who have it more "high functioning" than others, or is it pretty much the same across the board? You mentioned that as of last summer, Liam's only words were "more" and "eat." Other than knowing the pledge of allegiance, does Liam have any new words that he uses to communicate on a day-to-day basis? Does he have any other ways of communicating, like sign language or something similar? Interesting thread and handsome kiddo!
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| # ? Jan 20, 2013 18:53 |
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I met a little girl with WS at the super market once. I was in the produce section and she was standing there with her mom. I smiled as I passed her by and the next thing I knew she was attached to my leg giving me a hug. Her mom explained a bit about WS and the super friendly thing. Most adorable little girl I've ever seen. I had been having a really bad day and it made me smile. I wish the world was set up that kids could just be that friendly.
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| # ? Jan 20, 2013 19:06 |
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Mathematics posted:I read on the other thread that you said he probably would never be able to learn to read music because musical notation is difficult for people with spacial issues to read (due to how the notes look similar, you have to determine their point on the staff, etc). There likely are other ways of tabulature that may be easier for some people to grasp, but I think the biggest issue will likely always be the speed at which they can read it. Most people I know with WS can read their mothertongue, but their reading speed is an issue. I don't think that it would be completely impossible for a way of notating music to be developed that he CAN read, I just don't know if sight-reading will really ever be possible for him. Budget Bears posted:What will Liam be like as an adult? Will this syndrome do anything to hinder him from being an independent grown-up? Are there varying degrees of Williams Syndrome? That is, are some people who have it more "high functioning" than others, or is it pretty much the same across the board? There are great variations of how much Williams Syndrome impacts each person, developmentally. Some people with WS are mildly delayed, such that they would generally be considered of very low normal intelligence, while others have very severe intellectual disability. As for his language...oh man, does he talk. CONSTANTLY. As I said, he finished the school year last June with 2 functional words. When school was starting up again in early September, I made a list of his words for his speech therapist and lost count at somewhere around 150. He speaks in complete (short) sentences now and I couldn't even begin to guess how many words he's got command of. The other day, he asked if he could watch a SuperGrover video on youtube, the conversation went something like this: Liam: "First eat, then go see my SuperGrover?" Me: "We will watch SuperGrover videos later, how about we play with some toys?" Liam: "You're AWFUL!  " He still does sign some things (mostly MORE!) when we don't respond to his verbal requests fast enough for his liking. He'll ask for a refill of his drink, and if it doesn't appear within about 5 seconds, he'll start signing "more" very forcefully while repeating his verbal request until we respond.
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| # ? Jan 20, 2013 19:18 |
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This is very interesting, thankyou for sharing! Is Liam big into music aimed at children like the Wiggles? Or does he have more adult tastes because it's more complex or the same music that you and your husband play/sing. Taking into account all the conditions that people with WS can have (and his initial prematurity), is he smaller than your average 5 year old or will Liam grow up to have a smaller stature overall? Are the feeding issues related to the dental abnormalities or can they be two different problems?
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| # ? Jan 20, 2013 22:29 |
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What are Williams syndrome children like when they get angry? Do you think WS has had an effect on the types of tantrums Liam throws? I'm very interested on how the heightened friendliness affects other aspects of his personality. It might be difficult to tell until he gets older, since children are so often friendly/open anyway.
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| # ? Jan 20, 2013 22:49 |
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Fionnoula posted:As for his language...oh man, does he talk. CONSTANTLY. As I said, he finished the school year last June with 2 functional words. When school was starting up again in early September, I made a list of his words for his speech therapist and lost count at somewhere around 150. Is there something unusual about Liam's hair, or is he just rocking a blue hat to set off his eyes?
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| # ? Jan 20, 2013 23:14 |
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What does 80's pop music say?
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| # ? Jan 20, 2013 23:33 |
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I just thought of another question! You said that the kids at Liam's school seem to like him a lot, but in kind of a "little brother" way. Have any kids at school (or anywhere) ever been mean or hostile towards Liam for being different? If anyone has singled him out for being different, does Liam seem to care/notice?
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| # ? Jan 20, 2013 23:41 |
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Cute kid! Have you seen the 'Savant' episode of Law and Order SVU? Can't find the video but here's the IMDB. In it, the daughter is an auditory witness to the crime and, despite confusing times and dates, can hear exceptionally well and IDs the killer. I'm curious how accurate it is. Also, to put it bluntly, how much does your son cost? Are his needs particularly expensive? What about as he gets older? Finally, as he gets older, will you be able to teach him not to trust strangers implicitly? Is it just a natural disinhibition that can be 'unlearned', or do people with William's Syndrome generally need supervision around strangers?
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| # ? Jan 21, 2013 02:42 |
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iwik posted:
Liam is super into music from the late 60's and early 70's. I'd say his favorite bands are Lynyrd Skynyrd and Creedence Clearwater Revival. He's currently listening to Mr. Tambourine Man by Bob Dylan a lot on his iPod, I notice. He knows the words to tons of songs and sings alng as he listens. He doesn't dislike childrens' music - he certainly sings right along with it in music class at school, but he doesn't ask to listen to it at home and if a childrens' song comes up on shuffle on his ipod, he hits the button to skip it more often than not. People with WS are of smaller stature than typical. I think the most recent information I saw was that they are generally about 30% shorter than one would expect them to be, based on the heights of their families. My husband and I are not short people, so one would expect our kids to be tall. He is definitely short, but at WS activities, he's The Tall Kid (for his age). He's currently at about the 25th percentile for height on the typical scale. His feeding issues are sensory and behavioral. There are no mechanical reasons why he cannot chew or swallow solid food. Initially, he has low muscle tone which made it very difficult - he no longer has those problems but he just will NOT eat solid food. Feeding problems are really common in WS, when I've asked older people with WS to describe the problems they have (or had) with food, a lot of them talk about things that seem to be mostly sensory, "I don't like how it SOUNDS when I swallow it" "I don't like how it feels on my tongue", etc. The dental problems seen in WS are very small widely spaced teeth, crappy enamel leading to tooth decay, and missing adult teeth (they just never form). His dentist has done x-rays and he does appear to be missing the tooth buds for 2 of his adult teeth, but that isn't really a huge concern for him. the black husserl posted:What are Williams syndrome children like when they get angry? Do you think WS has had an effect on the types of tantrums Liam throws? Arsenic Lupin posted:Is there something unusual about Liam's hair, or is he just rocking a blue hat to set off his eyes?  Here's his most recent school picture (with hair!):  Budget Bears posted:I just thought of another question! You said that the kids at Liam's school seem to like him a lot, but in kind of a "little brother" way. Have any kids at school (or anywhere) ever been mean or hostile towards Liam for being different? If anyone has singled him out for being different, does Liam seem to care/notice? There was a day earlier this year where they had a big school-wide anti-bullying day. One of the boys on his bus very solemnly asked to speak with me at drop off. He informed me that "I would never EVER let anyone say the R-Word in front of Liam because that would hurt him in his heart and his feelings and that would NOT be ok with me.", so it's quite obvious that the other kids (at least the older ones) know Liam has special needs. Very Nice Eraser posted:Have you seen the 'Savant' episode of Law and Order SVU? Can't find the video but here's the IMDB. In it, the daughter is an auditory witness to the crime and, despite confusing times and dates, can hear exceptionally well and IDs the killer. I'm curious how accurate it is. As for how much he costs, that's a hard one to answer. Medically, I can't even begin to imagine, but we had great insurance when he was born and now he has a Medi-Cal waiver due to his disability. He's still in diapers at 5.5 years old. He only eats babyfood, which is really shockingly expensive when your kid eats 4 tubs of it at every meal, 5 meals a day. He needs Pediasure to maintain his body weight, we just can't get enough calories in him otherwise. Pediasure is about $9.00 for a 6pack and he drinks 1-2 bottles a day. Honestly, his food and drink costs more than mine & my husband's combined. We've only recently been able to get him to eat homemade applesauce, so that should cut some of his food cost down. No luck yet convincing him to eat any other kind of homemade puree, but it's not for lack of trying. We are lucky that insurance is currently paying for all of his therapies. But even with insurance covering the therapies, we have to pay for parking (thanks a lot, Children's hospital), to the tune of $2.00 per visit, 3 visits per week. Right now we're just being nickel and dimed to death, you know? If the insurance wasn't picking up the tab for his therapies and surgeries and all his specialists, I guarantee we'd be millions in debt. He's grown out of the need for other equipment, like special chairs, standers, and walkers and special feeding equipment. He used to wear inserts in his shoes, those cost about $200 a pair, and then on top of that you had the expense of finding shoes that would actually fit over them. As he gets older, if his health continues as it is, I anticipate he will become LESS expensive. He's going to be out of diapers in the next year if it kills us all. We're working on getting him to eating real food. Sooner or later, I anticipate him no longer needing the private therapies (he currently does OT and Speech privately as well as at school). As for the trust in strangers...He'll always be inclined to be very friendly and open. He WILL eventually learn that you can't trust everyone and you can't just get in someone's car because they say they'll take you to see a puppy or whatever, but it's a long battle for them to learn it.
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| # ? Jan 21, 2013 05:00 |
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I know you've talked before about how he cried for months and months before the hypercalcemia diagnosis--how did you keep calm during that? Even taking shifts, it makes me feel panicky just thinking about it!
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| # ? Jan 21, 2013 13:01 |
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How is his renal/cardiovascular health? When I worked as a researcher for the Dept. of Pediatrics at a large teaching hospital I would spend a lot of time with the patients of the nephrology subspecialty and met a number of lovely kids with WS so I am quite familiar with the diagnosis.
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| # ? Jan 21, 2013 13:13 |
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Ben Davis posted:I know you've talked before about how he cried for months and months before the hypercalcemia diagnosis--how did you keep calm during that? Even taking shifts, it makes me feel panicky just thinking about it! We took turns. Thankfully, my parents live quite close and my mom would sometimes come and take a turn. I wore headphones and blasted music on my ipod while I tended to him when it got to the point where I truly thought I was going to go crazy if he didn't stop crying. Those first 4 or 5 months were truly awful, all he did was cry and vomit, very little sleeping at all. Then again, he'd probably tell you the same thing about it: those first 4 or 5 months were awful: all they did was feed me milk I was allergic to that made me vomit and caused me physical pain. Once he was diagnosed with Williams Syndrome, we did some reading and learned about hypercalcemia and his symptoms of constant pain and vomiting up every feed, difficulty with weight gain, and apparent GERD (for which we had tried every prescription medication with no improvement) all fit for hypercalcemia. We switched him to a formula called Calcilo XD, which contains very low calcium levels and no Vitamin D. He was a completely different baby the next day - all smiles, no screaming, no vomiting, slept like a champ. It was amazing. THAT cost a ton. Cans of powdered formula were (at the time he was an infant) about $15 for the small can and about $30 for the large can. Calcilo XD comes only in the small can, and it was $33 each and lasted about 3 - 3 1/2 days per can. I had to special order it through a pharmacy. Our insurance insisted they wouldn't be paying for it even through California law states that they *must* pay the price difference between the prescription formula and over the counter formula for people with "genetic, metabolic conditions, such as PKU". They told us to gently caress right off because he didn't have PKU. I had to call the California Department of Managed Care to start complaint proceedings against them before they finally relented and acknowledged that the words "such as" might just possibly mean that PKU is an EXAMPLE rather than a complete list of all genetic metabolic conditions. We were out of pocket for about 6 months of it before the insurance finally started covering it. The formula is manufactured by one company. In one factory. At one point, there was a problem with the machine that sealed the cans so they didn't seal right and the powder all went off. They recalled all the formula manufactured in a 2 month period and didn't have any more to give anyone. There was a HUGE scramble in the WS community. They way we were getting our formula at that point was that our insurance company was ordering it from the manufacturer for us and having it shipped by the case to our house. I had 4 cases in his closet at the time and only 1 of them fell under the recall order, which left me with 3 cases. The manufacturer was telling us it was going to be 2 weeks until new formula could be available, so we all got together and figured out how much we needed and then sent anything we could spare to the families who didn't have enough to make it through. Kommienzuspadt posted:How is his renal/cardiovascular health? When I worked as a researcher for the Dept. of Pediatrics at a large teaching hospital I would spend a lot of time with the patients of the nephrology subspecialty and met a number of lovely kids with WS so I am quite familiar with the diagnosis.
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| # ? Jan 21, 2013 18:30 |
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Have you considered having another child or did you only want one from the beginning? I have a friend who has a special needs child and I know she had a hard time deciding whether to have another child (she originally wanted lots). Also, I remember when you posted about Liam's first day of school and does not begin to describe it.
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| # ? Jan 21, 2013 20:25 |
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Brennanite posted:Also, I remember when you posted about Liam's first day of school and er than my disability. We just grow up to be college professors, which is the most miserable form of life.  )
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| # ? Jan 21, 2013 20:28 |
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Brennanite posted:Have you considered having another child or did you only want one from the beginning? I have a friend who has a special needs child and I know she had a hard time deciding whether to have another child (she originally wanted lots). We always wanted to have 2. There's no reason to think we would have another child with a disability, other the fact that I am a withered old hag at this point (no really, I'm getting up there). We wanted to have another when Liam was about 2-3, but the economy and layoffs and blah blah blah. We just haven't felt financially ok to have another baby. So it's looking like he'll be an only child.
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| # ? Jan 21, 2013 21:55 |
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Fionnoula posted:Once he was diagnosed with Williams Syndrome, we did some reading and learned about hypercalcemia and his symptoms of constant pain and vomiting up every feed, difficulty with weight gain, and apparent GERD (for which we had tried every prescription medication with no improvement) all fit for hypercalcemia. We switched him to a formula called Calcilo XD, which contains very low calcium levels and no Vitamin D. He was a completely different baby the next day - all smiles, no screaming, no vomiting, slept like a champ. It was amazing. Wait, the burden was on you to diagnose your child with hypercalcemia? That's awful! How much DIY medical care/expertise is needed to maintain a WS child? I'm just shocked that a doctor couldn't be of more help. Fionnoula posted:There was a day earlier this year where they had a big school-wide anti-bullying day. One of the boys on his bus very solemnly asked to speak with me at drop off. He informed me that "I would never EVER let anyone say the R-Word in front of Liam because that would hurt him in his heart and his feelings and that would NOT be ok with me.", This might be enough to redeem all of humanity right here.
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| # ? Jan 21, 2013 23:20 |
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the black husserl posted:Wait, the burden was on you to diagnose your child with hypercalcemia? That's awful! How much DIY medical care/expertise is needed to maintain a WS child? I'm just shocked that a doctor couldn't be of more help. The geneticist gave us the diagnosis. He directed us to the Williams Syndrome Association's website. He told us that WS carries with it cardiac issues, intellectual disability, and a whole host of other problems. He gave us a letter to take to the Social Security Administration and to show to the Early Intervention organization. He gave us the Early Intervention organization's phone number. He wished us luck, he told us that we should definitely do our best to connect with other families affected by WS because they were going to be our best resource. WS is a "rare" disorder, rates are somewhere in the 1/7,500 - 1/10,000 births range. His pediatrician had never even seen a person with WS before, much less treated one. She did research it and from the time he was diagnosed began following the American Academy of Pediatrics published guidelines for the medical care of children with Williams syndrome. When your child has a rare condition, you end up being the expert an awful lot. There's just no way everyone is going to know the intricacies of every obscure disorder out there, so you become the expert and the educator. His current pediatrician (different insurance, we used to have Kaiser Permanente, now he's got Medi-Cal and sees a pediatrician at Children's Hospital) also follows the guidelines, but he has told me repeatedly "Hey, you are the expert here. You're the one who has contact with other families and regular access to some of the biggest researchers into WS so you're the one who is likely to notice things when they come up." I carry a printout of the AAP Guidelines for treatment folded into his vaccination record, just in case there's ever a situation that lands us in Urgent Care or an ER seeing a different doctor than we normally see, because it's a pretty sure bet that their knowledge of WS is going to be extremely limited. When Liam was first diagnosed with WS, we were still on the revolving door of GERD medications. We already had a referral to a pediatric gastroenterologist before the diagnosis. By the time we saw the doctor, we already had the WS diagnosis and had just learned of the possibility of hypercalcemia and he looked me square in the face and told me "There is no way for calcium to cause GERD." I kept telling him "No, you aren't understanding me, I am saying I do not think my child has GERD. I think that his hypercalcemia symptoms LOOK LIKE the symptoms of acid reflux and that's why none of these medications have worked - they aren't treating the real problem. Can we just run blood tests for his calcium levels?" He just dismissed me, told me I was wrong about hypercalcemia and prescribed more GERD meds...ones we had already tried that hadn't worked. A few days later, it was decided that Liam needed to have a sedated ultrasound on his heart and that he needed it to be done at Children's Hospital because WS and anesthesia don't mix well sometimes. The gastroenterologist at Children's Hospital acknowledged that it was quite possible Liam had hypercalcemia but DID NOT KNOW that the prescription formula existed, much less how to get it. I think that was the point at which it really hit me that *I* was going to have to learn everything I could, because none of the doctors knew enough about the intricacies of WS to be his advocate. It falls to us. As for the hypercalcemia and the prescription formula: Liam was formally diagnosed with WS the first week of November, 2007. I finally managed to get the formula on December 30th, 2007. It took me almost 2 months to find out enough about it that I could get a pharmacy to special order it.
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| # ? Jan 22, 2013 00:18 |
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Thanks for sharing, this is a really interesting thread! My mother-in-law is a geneticist that specializes in Williams Syndrome, so I'm excited to learn more about her work.
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| # ? Jan 23, 2013 15:53 |
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Does someone with WS have a shorter life expectancy? If you're thinking about getting your son into a group home or assisted living program, I advise starting the process a few years before you want to achieve that goal. There's often a long wait list to get into these programs. I definitely suggest doing assisted living over the group home. I worked in a group home with men who were very high function. They were also very likely to have "behaviors". Unfortunately, our company sorted the homes based on their functioning level, rather than their likelihood of having behaviors. A few of the guys were very intelligent and charismatic and they used this to cheat and steal from the other clients. With your son being as trusting as he is, it wouldn't be unlikely that he could be talked into trading his iPod or other valuable s for a bottle of soda. The sad thing about it is the staff isn't really allowed to intervene because they're supposed to allow the clients to make their own decisions. I hated it because there was a guy whose mom would buy him nice things and he would always get talked out of them. At least if he's in assisted living he'll be on his own, other than the staff and you can tell him not to bring his nicer items to work or day program.
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| # ? Jan 24, 2013 14:20 |
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bitchymcjones posted:Does someone with WS have a shorter life expectancy? There's a general shortened life expectancy in people with Williams Syndrome, but it's based on the fact that so many have severe cardiac issues. Liam's life expectancy is not expected to be shortened. Additionally, the current numbers are based on a group of people who weren't diagnosed until *much* later, so they didn't have the medical supports in place from an early age. For instance, the hypercalcemia that goes with WS generally resolves itself by age 2. Until that time, their blood calcium levels and diet need to be closely monitored in order to prevent long-term kidney damage. There are almost no adults with WS who were diagnosed by the age of 2, and many of them have kidney problems (I know of several on dialysis or awaiting transplants). The younger generation is getting diagnosed much earlier and seeing fewer preventable long-term health problems, and they start therapies earlier so their developmental outcome is better as well. As it stands, the plan is for Liam to live with us until he leaves the public school system at least. Then I have big hopes of him attending a residential post-secondary school for people with intellectual disabilities for a few years. When he finishes his post-secondary education, we'll see what he wants his living situation to be and work toward supporting that. If he wants to stay living with Mom & Dad, try assisted living, or get his own apartment with supports in place, we will do what is necessary to make that happen. Group home is my very last choice. I worry about him wanting to live at home forever. It's a lovely idea to want to keep your disabled child close...but what happens when we die? We don't have any other children - we don't want to suddenly leave him with no family, no home, no options and having never learned independence.
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| # ? Jan 24, 2013 19:17 |
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Fionnoula posted:As it stands, the plan is for Liam to live with us until he leaves the public school system at least. Then I have big hopes of him attending a residential post-secondary school for people with intellectual disabilities for a few years. When he finishes his post-secondary education, we'll see what he wants his living situation to be and work toward supporting that. If he wants to stay living with Mom & Dad, try assisted living, or get his own apartment with supports in place, we will do what is necessary to make that happen. Group home is my very last choice. As another person who works in a group home. they really do differ drastically from agency to agency. There are plenty out there with a large emphasis on helping the residents gain independent living skills, often with an end goal of getting them to an assisted living or independent living status. A well-run house also keeps an eye out for in-house issues like bitchymcjones mentioned, so individuals in the house aren't getting bullied or taken advantage of by their peers. Much like with doctors and insurance, ultimately you'll know your son and his needs the best, and you'll probably have to help him shop around to find the living space that's right for him. You have a good long while yet before he's out of school and needs to start seriously looking at the various options, though. Fionnoula posted:I worry about him wanting to live at home forever. It's a lovely idea to want to keep your disabled child close...but what happens when we die? We don't have any other children - we don't want to suddenly leave him with no family, no home, no options and having never learned independence. Ideally, adult protective services gets contacted in that scenario and helps find him a place to live. But that can be pretty jarring on someone who's never lived away from his family before.
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| # ? Mar 2, 2013 01:43 |
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You had a thread on this a couple years ago, right? I am a-okay with there being a new one but it might be nice to link to the old one if you have it handy.Fionnoula posted:I worry about him wanting to live at home forever. It's a lovely idea to want to keep your disabled child close...but what happens when we die? We don't have any other children - we don't want to suddenly leave him with no family, no home, no options and having never learned independence. There are definitely things you can set up in advance for this. Does he have godparents or guardians designated in case of your demise or incapacitation? This is stuff you can get put in your will and living will, and you absolutely should if possible.
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| # ? Mar 2, 2013 16:17 |
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Eggplant Wizard posted:You had a thread on this a couple years ago, right? I am a-okay with there being a new one but it might be nice to link to the old one if you have it handy. I don't have archives! Eggplant Wizard posted:There are definitely things you can set up in advance for this. Does he have godparents or guardians designated in case of your demise or incapacitation? This is stuff you can get put in your will and living will, and you absolutely should if possible. We've been working on it. The problem is that the people we had originally deignated were chosen with the expectation that we would have a typically developed child. I don't feel comfortable with that same decision now that we've got Liam. We also have to change his special needs trust.
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| # ? Mar 3, 2013 03:02 |
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Fionnoula posted:I don't have archives! Do you remember when you made it?  I have archives but I'm having trouble finding it.
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| # ? Mar 3, 2013 16:22 |
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Fionnoula posted:
Glad to hear it! Keep it up Fionnoula posted:The geneticist gave us the diagnosis. He directed us to the Williams Syndrome Association's website. He told us that WS carries with it cardiac issues, intellectual disability, and a whole host of other problems. He gave us a letter to take to the Social Security Administration and to show to the Early Intervention organization. He gave us the Early Intervention organization's phone number. He wished us luck, he told us that we should definitely do our best to connect with other families affected by WS because they were going to be our best resource. This is so true. and, I hope it helps to hear this, but you sound like a lovely parent and I have seen firsthand the difference that makes in the outcomes for pediatric patients with complex congenital disorders like WS. Keep up the good work, and don't be afraid to tell a doctor that they are wrong if they give you poo poo. Try to be polite about it of course but be firm and stand your ground. The best thing to do is to take lots of notes and bring them in - in Nephrology stuff like resting BP, dietary notes, med lists, etc was what we really liked to get our hands on. I know it's a lot of work but it sounds like you are doing a great job. All the best for the future
Kommienzuspadt fucked around with this message at Mar 3, 2013 around 16:31 |
| # ? Mar 3, 2013 16:27 |
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Eggplant Wizard posted:Do you remember when you made it? Here it is.
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| # ? Mar 3, 2013 16:30 |
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HA different username, earlier reg date. Thanks. e: Omg this picture. He's such a cutie 
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| # ? Mar 3, 2013 16:39 |
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Eggplant Wizard posted:HA different username, earlier reg date. Thanks. Oh yeah, had a big crash and then couldn't find my password, the credit card I had used to buy the old account was so expired I no longer had the number. I just gave up on account recovery and bought a new one. haha.
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| # ? Mar 3, 2013 19:02 |
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| # ? May 18, 2013 14:24 |
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Kommienzuspadt posted:The best thing to do is to take lots of notes and bring them in - in Nephrology stuff like resting BP, dietary notes, med lists, etc was what we really liked to get our hands on. I know it's a lot of work but it sounds like you are doing a great job. I've got the typical parent-of-special-needs-kid Binder Of Doom - big 3 ring binder with all relevant paperwork for easy reference. Starting it was really one of the best pieces of advice I got from other parents when he was first diagnosed and I'd really advise any parent of a kid with medical concerns to start doing it. I just shove all his paperwork into the relevant section, organized by specialty, so it's there if I ever need to check on when something happened or what his pressures looked like 1 year ago. I keep a separate one for all his IEP and therapy stuff. It really helps keep everything under control and in the case of the school district, can keep everyone honest...like when the IEP you sign is somehow NOT the one one they decide they're going to work from. Sorry guys, it's right here in black and white: he gets the following services, we all agreed to it and signed off on it.
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| # ? Mar 3, 2013 19:23 |
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