tag:blogger.com,1999:blog-31452346.post3465727700955133658..comments2023-08-01T16:38:30.996+01:00Comments on The Doofer Call: Three years with Spinal Muscular Atrophy III: one parent’s takeJeremyhttp://www.blogger.com/profile/11209315592056360247noreply@blogger.comBlogger26125tag:blogger.com,1999:blog-31452346.post-57407562777117713792016-12-05T22:25:44.395+00:002016-12-05T22:25:44.395+00:00Hello Jawed, so sorry it's taken a while to re...Hello Jawed, so sorry it's taken a while to reply. I'm really sorry to hear what you've had to face, you've been through the wringer. I would be happy to be in touch, why don't you put your email in a comment - I won't publish it but can then drop you a line.<br />I keep promising to provide an update to this post and still haven't, but I can tell you that our son just turned 11 and is as lively, garrulous and active as ever. And positive: it would be hard to find a happier child. Last month I watched him swim 450m in his weekly swimming lesson. He uses his wheelchair more but still walks, is on Salbutamol (Ventolin), which may be helping, and takes part in everything possible, from camping with Cubs/Scouts to climbing(!) and very impressive headstands. I know that is all glossing over his various trials, missed school hours, and so much else that isn't much fun, but do please stay positive because that is just a part of life to be dealt with, the good things will outweigh them.<br />All the best, JeremyJeremyhttps://www.blogger.com/profile/11209315592056360247noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-30428690292932813092016-11-19T17:50:07.666+00:002016-11-19T17:50:07.666+00:00So sorry that you have gotten the diagnosis. It...So sorry that you have gotten the diagnosis. It's never easy and even though we are supposed to be grateful that they are type 3s, you always wonder why me. I would encourage you to join these Facebook groups dedicated to sma families. You will find lots of supports, news in the drugs and clinical trials etc. They really helped me through early days of diagnosis. <br /><br />https://www.facebook.com/groups/SMASupportSystem/<br /><br />https://www.facebook.com/theFASTmovement/<br /><br />There is another secret sma type 3 group that I can only add you when you are already on Facebook. Let me know when you are there. <br /><br />Eve<br />IppyEviehttps://www.blogger.com/profile/00347601129988688221noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-79150078318868780792016-11-19T01:26:35.168+00:002016-11-19T01:26:35.168+00:00Hi. Would it be possible to connect somehow throug...Hi. Would it be possible to connect somehow through social media/phone/email or whatever. I really need some advise if you don't mind. My little one is recently (2016) diagnosed with sma3. Anonymoushttps://www.blogger.com/profile/07644385331339073686noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-3747346886041048782016-11-19T01:23:19.697+00:002016-11-19T01:23:19.697+00:00Hi. We are located in Canada and I would like to c...Hi. We are located in Canada and I would like to contact you for some advise through phone/email/pm if you don't mind. I will really appreciate it. Our little one is recently diagnosed with SMA type 3.Anonymoushttps://www.blogger.com/profile/07644385331339073686noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-83069267613106238692016-11-18T18:39:11.403+00:002016-11-18T18:39:11.403+00:00Hi. We went through pretty much everything you di...Hi. We went through pretty much everything you did during the first 3 weeks before it is diagnosed. As soon as we noticed that he is not able to stand easily, we rushed him to emergency and the first thing they were thinking of was Duchenne (DMD). They did a blood test right away and we were waiting for the result and it took about 2-3 hours to come back.<br /><br />It was the worst 3 hours of our life but luckily the result was negative. Later in the day, they started doing more tests (EMG, Genetics, MRI and so on) and in a couple of days they found out it is SMA3.<br /><br />It has been 10 days that we heard about it and it is really hard to digest but we are very hopeful of new researches in the field such as (Biogen and some other companies).<br /><br />Just wanted to share our story. He is our first and only child so far, he is now 27 months and we live in Canada. Anonymoushttps://www.blogger.com/profile/07644385331339073686noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-82393463998167197382015-08-03T22:31:59.750+01:002015-08-03T22:31:59.750+01:00Hi Jeremy, our 2 years old son has been recently d...Hi Jeremy, our 2 years old son has been recently diagnosed with SMA type 3 and we too had about the same roller coaster of emotions with first fearing Duchenne and then testing for SMA, transitioning from despair to solutions seeking, to making the best of our lives. I don't usually post comments but your blog really touched me, what you are describing is so close to what I feel and think that I have to thank you for sharing your experience, for giving hope and encouragement. Have you tried Ventolin eventually? I would like to read your update if you have written one (I couldn't find it on your blog). All the best!Alinanoreply@blogger.comtag:blogger.com,1999:blog-31452346.post-41198589515839668952015-04-27T18:28:04.529+01:002015-04-27T18:28:04.529+01:00Hello Jeremy, I came across your blog "Three ...Hello Jeremy, I came across your blog "Three years with SMA III: one parent's take" wile doing a search for my own New blog: abonnieview.com . My blog is "Living the Good Life...Despite the Wheelchair. I am reaching out to families and friends of those with SMA type III. So far my blog has a few personal stories for people can get to know me. It's defiantly a work in progress. I love what you have written about your family and I hope we connect in the future. Sincerely, Bonnie - Ontario Canada Bonniehttps://www.blogger.com/profile/11435387704839686458noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-9517390706452979372014-12-12T12:57:32.467+00:002014-12-12T12:57:32.467+00:00Hi all. First, IppyEvie, apologies but in publishi...Hi all. First, IppyEvie, apologies but in publishing the latest comments I accidentally published one of your earlier replies momentarily which I think you may have intended to be just for me, so I've removed it. Annoyingly the only way to do that is to actually delete it, but I do have a copy! In any case, I now know how to get hold of you now via Facebook and we can talk there if you wish.<br />To both of you - IppyEvie and Maria - thank you for the information and I'm so glad to hear how your boys are doing, it's really positive news. I've been doing some more reading around salbutamol and other areas of research and we will definitely be taking this up with our doctors when we see them next month. <br />Physio is very important for our son, and swimming in particular. He has regular hydrotherapy and weekly swimming lessons, and recently he was swimming with school too. This is sadly not a constant in the curriculum, but it was lovely to know that, for once, he was doing a sport with his peers in which he could not only keep up but often out-pace many of them! He really loves swimming, though it exhausts him - not surprising when he reports that he's done 6 lengths non-stop.<br />I can well believe that horse-riding is helpful, it must be good for the core muscles.<br />Best wishes :)Jeremyhttps://www.blogger.com/profile/11209315592056360247noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-24531383029605298072014-12-12T09:56:57.869+00:002014-12-12T09:56:57.869+00:00Hi Maria,
Thanks for your comment. It seems like ...Hi Maria,<br /><br />Thanks for your comment. It seems like you and I are roughly in the same situation (son same age, diagnosed for the same type 3 - my son also has 4 copies of smn2!!! And I'm very grateful for that, most people get up to three, so we're indeed a minority). Please, only if you want to, connect with me via facebook and we can exchange tips and tales. My son started on Salbulamol for a month now and I too notice a difference. However, I'm not sure whether it's a combination of PT and swimming as well. Another thing which is reported to be good for them is horseriding so you might want to add that to your list. I agree he has definitely more muscle now. He used to be so soft like a baby. He has more energy and he can now squat!! I'm so proud of him! All I know is that Olesoxime will come out towards the end of next year and that's supposed to preserve the motor neurons - meaning they won't get worse. This buys us some time and then ISIS smnrx, which is on phase 3, if approved could come out as soon as 2017/18. I am very hopeful about the future. Anyway, please add me if you wish.<br />https://www.facebook.com/IppyEvie<br /><br />Thanks!! IppyEviehttps://www.blogger.com/profile/00347601129988688221noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-7138900730281463072014-12-10T20:56:06.906+00:002014-12-10T20:56:06.906+00:00"Taken up crawling" as in front crawl sw..."Taken up crawling" as in front crawl swimming. English is not my first language. :)Marianoreply@blogger.comtag:blogger.com,1999:blog-31452346.post-10591836597478059542014-12-09T08:52:36.658+00:002014-12-09T08:52:36.658+00:00Hello again, just wanted to say Jeremy - and IppyE...Hello again, just wanted to say Jeremy - and IppyEvie, I hope you see this too, - our 3-year-old just had a physical exam at hospital after 6 weeks of Ventoline/salbutamol. For the first three weeks, the tremor in his hands was more noticeblae, but he still was able to build with Lego. After three weeks, the tremor went back to normal - meaning it is noticeable sometimes, but more often not. He has SMA3 - diagnosed at exactly 3 years-old, 4 smn2 copies. He is definitely stronger from Ventoline, his legs are even more sculptural - they were oh so skinny for a while. And the effects came quickly, before three months - and are still ongoing. He is not as strong as he would be without SMA, he still climbs stairs on hands and knees, but before medication, he had just about given up on long stairs. He also sits up straighter, has no need for support in his chair for now and can do bathroom trips on his own. He eats more and freeze less, ad he moves around more outdoors. He swims twice a week in heated pool, and has taken up crawling in the last month. His improvement in muscle tone is noticeable there too, and his mood - it is better, like it used to be before he started noticing that his body didn't always want to do what he asked it to - he loves mastering new skills on his own and is indeed more able to keep up with his peers. He is on 1mg (2,5 ml) 3 times a day, which is low - but as we are waiting for the designer drug to be approved (please, please let it be no later than in his teens!), we need to be able to go up in dosis as he grows. His neurologist told us that in Italy, Ventoline is established treatment for all SMA-patients, but we are based in Norway, and here it is still considered experimental. Marianoreply@blogger.comtag:blogger.com,1999:blog-31452346.post-90427263235809551182014-11-24T10:49:17.875+00:002014-11-24T10:49:17.875+00:00This comment has been removed by a blog administrator.IppyEviehttps://www.blogger.com/profile/00347601129988688221noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-86976637877643483322014-11-11T23:26:08.131+00:002014-11-11T23:26:08.131+00:00Hi Benjamin, glad to meet you. You must have had a...Hi Benjamin, glad to meet you. You must have had a tough time lately. I don't want to be pretend it's going to be easy but I recognise the thoughts you expressed here, and you're right: your lives will be influenced but not defined by your child's condition.<br />I'll do an update soon, there's probably less to say than last time but it's overdue! Please get in touch whenever, I would be only very happy to email or meet up.<br />Best wishes to you and yours.Jeremyhttps://www.blogger.com/profile/11209315592056360247noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-71471966753989434502014-11-11T23:02:53.192+00:002014-11-11T23:02:53.192+00:00Hi Maria, I'm very happy to see your reply. Gl...Hi Maria, I'm very happy to see your reply. Glad, too, to hear how your little boy is doing, it's so encouraging that Ventolin has had such a noticeable effect. I hadn't heard much about it in relation to SMA/SMN2, but have got hold of some reading matter now and will inform myself so I can take it up with our consultant. That is a very valuable tip. <br />And rowdy is definitely good - more rowdy please! Not that I always say that, and I'm sure that having 2 of your own you feel the same :) Jeremyhttps://www.blogger.com/profile/11209315592056360247noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-30498445424520020382014-11-11T22:03:55.456+00:002014-11-11T22:03:55.456+00:00Hello, our 2 year old son just got diagnosed with ...<br />Hello, our 2 year old son just got diagnosed with Sma 3. It seems that our path started the same way ( Duchenne's anxiety and then relief and then Sma). After having been very upset, I found peace in thinking that this is just how it is and we would make the most of it. Our son is happy, full of life and smart and this gives me a lot of energy. I expect our life to be influenced by this comdition but not defined by it. Our son seems to have the same willpower as your son and reading your story gives me hope and I am sure your son will be one day a source of inspiration for mine. Please keep posting and I may contact your from time to time for advice if you do not mind. We live in London amd happy to meet if you are around. <br /><br />Kind regards, Benjamin<br />Benjamin Vedrenne-Cloquethttps://www.blogger.com/profile/17972250122852158615noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-61457457895974223452014-11-11T11:42:13.529+00:002014-11-11T11:42:13.529+00:00Jeremy, I just saw your reply today, I often tell ...Jeremy, I just saw your reply today, I often tell my friends to read your blogpost to understand SMA3. I know it is different for everyone, but our experience with our kid has so far been very similar to yours. I absolutely respect that you do not want to talk SMA all the time. It is hard to cope with sometimes, and our kids are so much more than just that. But I still hope you do write a follow up, I was excited to see in your comment above that your kid still walks! Whoop whoop! Our kid was getting very tired, so we got him Ventoline, a very low dosis so we have the option to go higher should he need to (we also are a family of neurologists, although I am not). If you are not onto it, Ventoline triggers the SMN2 copies to build the little muscle the SMA3 patients can. I don't know if your child is on it or even need it, but it made the world better for our kid (and for us). He is back to being rowdy, can do full days at play school again, is very sociable and much loved by his peers and teachers, thank god! But he does need transporting aids for walks outside. Marianoreply@blogger.comtag:blogger.com,1999:blog-31452346.post-6591766869496251402014-11-06T22:46:03.761+00:002014-11-06T22:46:03.761+00:00@Maria you may well not see this, I am so sorry th...@Maria you may well not see this, I am so sorry that I didn't reply to your comment when you wrote it. I was on holiday overseas so published it from my phone and meant to write a reply when I came home, which I failed to do. I was - am - very pleased to hear this post gave you a lift, SMA III is no doubt different for all who have it (and all their families) but I'm sure you and your family will take it in your stride, for the most part.<br />To answer your questions, until our son got his wheelchair we used a super-sized stroller called a Swifty (I think this http://tadpoleadaptive.com/thomashilfen-swifty-special-needs-stroller.html). Not cheap, but pretty good. We're very fortunate to have the NHS which supplied both of these and his much funkier wheelchair that he now uses (being a bit of a whizz in his wheels). For anything off-road, of course, the awesome Delichon buggy still does the business and will do for years to come. Only this year has he started to use a walking frame, which is actually very good and since we move to a house large enough to swing (and own) a cat in, the frame makes sense (in the old one it would have taken up the entire floor; in this one there is actually a gap to traverse between the walls). I don't know if it's suited to a 3-year-old, you may as well ask.<br />Right, I'm now decided. I will blog "3 years on" soon! Thank you for commenting and my very best wishes to you and your family, you will be fine!Jeremyhttps://www.blogger.com/profile/11209315592056360247noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-37352931965504446482014-11-06T22:17:02.799+00:002014-11-06T22:17:02.799+00:00@IppyEvie I'm sorry to hear your news, it'...@IppyEvie I'm sorry to hear your news, it's tough to deal with whatever the alternatives were. It's now three years since I wrote this post and there's plenty more to say now, of course, and it's not always been easy (nor with our other 2 kids, of course!). I will try to blog it soon, but in short our son (about to turn 9) is doing very well and still walks, swims multiple lengths of the pool, gets up the stairs - it's hard for him, but do-able. As for your question by all means ask away. I suggest you simply comment as before but this time I will not publish your comment. <br />By the way I don't know if your profile is up to date and you are still in London. If you are then you probably already know that you have very fine medical facilities on your doorstep, and you might also have heard about SMA Support UK, well worth making contact with.Jeremyhttps://www.blogger.com/profile/11209315592056360247noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-45915588062495699112014-11-06T15:51:57.929+00:002014-11-06T15:51:57.929+00:00Hi there,
I just stumbled upon your blog since my...Hi there,<br /><br />I just stumbled upon your blog since my two year old has just been diagnosed with SMA III. We went through exactly your route with first investigation of Duchene etc. I don't know if I'm relieved or not. SMA III, there are worse things, is still quite grim. So like you, we are googling like crazy about the prognosis of this condition. I got my hands on as many medical research as I could. I have some specific questions on SMA III for you, I would be so grateful if you can help. Would prefer to do this through private message, rather than leaving you a comment. Thank you.IppyEviehttps://www.blogger.com/profile/00347601129988688221noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-39142119514689568862014-07-19T17:56:38.886+01:002014-07-19T17:56:38.886+01:00Jeremy, thank you so much for writing this and pos...Jeremy, thank you so much for writing this and posting videos of various super useful and great aids! Our kid2 just got diagnosed with SMA III right before he turned 3 - and just when every health station office there is has shut down for summer. My husband and I are going through the investigative phase, where we are reading all we can about the condition. (Mostly done with the crying and despairing bit for now, we hope.) I find so much (and so much scary stuff) about sufferers of SMA I and II, but not much uplifting and positive stuff about SMA III. I thank you from the bottom of my heart for your post! Did your kid manage whith no wheel chair until he was 4 and a half, or did he use some kind of stoller for longer walks? Our 3-year-old needs stroller for play school excursions, but is getting too tall for the baby ones. Was thinking of getting him a wheel chair to give him more dignity than looking like a large baby in a small stroller - but your suggestion for a stroller might solve this. Does your kid still use it? All the best and thank you again!Mariahttps://www.blogger.com/profile/05293216032715777513noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-6720471143804762842014-02-01T22:59:26.177+00:002014-02-01T22:59:26.177+00:00@Tinka, I don't know if you'll see this, I...@Tinka, I don't know if you'll see this, I didn't see your comment awaiting moderation for so long, my sincere apologies. I'm sure you have the answers to your questions by now, and I hope you are coping with whatever you have found out. For what it's worth our son had a blood test first, looking for proteins that would indicate Duchenne's MD, and his result for that was normal too (an unimaginable relief). SMA was shown only by a genetic test that we had done looked specifically for an SMA-related gene, I don't know if it would show up in some more general screening.<br />Best wishes to you and your little girl. Whatever you've found out you will have amazing times together. Jeremyhttps://www.blogger.com/profile/11209315592056360247noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-9180327236588264002013-12-11T15:13:13.006+00:002013-12-11T15:13:13.006+00:00Was it just a general genetic test that revealed t...Was it just a general genetic test that revealed this that Neuro orders or is there a specific one! Going through testing and curious. Neuro did a genetic test waited two weeks and bloodwolr normal wondering if sma would have been revealed in that or not? My daughter 15 months and can only stand supported for about 40 seconds and is wobbly. She butt scoots doesn't crawl. Basically she's at an eight month gross motor level. tinkahttps://www.blogger.com/profile/12073330903229502074noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-26153893120231410792012-10-15T23:21:23.524+01:002012-10-15T23:21:23.524+01:00Thank you so much for commenting. Your grandson so...Thank you so much for commenting. Your grandson sounds amazingly like a little boy I know! Our son is now almost 7 and still shows no signs of it getting him down, far from it (especially with his latest set of wheels). I'm sure it will be the same story for you - these kids have exhausting amounts of spirit! Best wishes to you and yoursJeremyhttps://www.blogger.com/profile/11209315592056360247noreply@blogger.comtag:blogger.com,1999:blog-31452346.post-72402132140385990162012-10-15T14:34:30.841+01:002012-10-15T14:34:30.841+01:00Just stumbled upon your blog. My grandson who is f...Just stumbled upon your blog. My grandson who is five was diagnosed with SMA III on September 14th, 2010 at 3 years old. My grandson also has a really hard time with steps and walking on uneven surfaces is a challenge for him. His symptons started appearing at around 12 months of age and he didn't walk until he was 18 months. The doctors basically say my grandson is a weak 3. He also has the little hand tremor that shows up mostly when he is tired or sick. His attitude is great and he actually loves his wheelchair. His wheelchair is used for mainly long distances and he speeds around like a race driver in it. Anonymousnoreply@blogger.comtag:blogger.com,1999:blog-31452346.post-35618365615518253252012-01-03T21:00:41.210+00:002012-01-03T21:00:41.210+00:00Thank you Diane, that means an awful lot to me. If...Thank you Diane, that means an awful lot to me. If it helped anyone I would be truly content.Jeremyhttps://www.blogger.com/profile/11209315592056360247noreply@blogger.com