The miracle here is when I first saw the documentary on Shane he was young and he was on a show that was like how does it feel to live with no future or something like that. They were saying that they didn't see him living past 30 to 40. So the fact that he's here and so healthy with better head control is just really a miracle
This right here just proves what a dedicated partner Hannah is to Shane. It seems she is always researching his condition and she has such knowledge of it. Props to you Hannah, you are amazing!
I really do pray that there is a treatment for shane that helps his life improve he deserves so fucking much. He is so happy and such a bright light as is
I work in the pharmaceutical field, specifically on AAV, and it’s so exciting and rewarding to hear you guys talk about it! I hope gene therapy treatments will be available for you at some point. I think part of the reason it’s taking longer is because of the history of gene therapy-when they figured out it could be done, in the 1990s, they jumped into clinical trials too fast, and a man died, which halted all the clinical trials for gene therapies in the US. This caused a slow down in investment and research, and it’s taken years for clinical trials and research to really take off again. And they’re still ultra safety conscious. And part of the reason they are approving for young kids first is because one of the more dangerous risks is a inflammatory immune response, and children’s immune systems are not fully developed yet, which lowers this risk. But anyway, very exciting stuff, and I hope it’s accessible to you soon!
That's interesting to hear about the inflammatory response. It always bothered me that many of these treatments weren't available past a certain age or past a certain level of disease progression. It's good to know it's not just a value judgement but an actual medical reason relating to the risk.
I don’t work in the medical field and I don’t have a family member with SMA (only you guys, my friends). But I’m still very interested in hearing the news on SMA and new treatments. I’m so glad the pharmaceutical companies are working on this!
I’ve been diagnosed with multiple sclerosis for 30 years, I completely understand the exhaustion of staying up on every single “promising breakthrough” (and choosing not to) after so long. Science and medicine seem to move slowly because of the necessity for testing, but that beats the alternative!
Let me tell you how great your channel is. I am very impressed with your content. It takes a strong woman to do what Hannah does. My uncle was quadriplegic, and was married to an amazing lady for over 30 years that had to do practically everything for him. She had to wake up every two hours to turn him so he would not get bed sores, dress him, and numerous other things. When she would go out of town for a weekend I would help out. Let me tell you that is where my appreciation came for her, because by Sunday I was ready for her to come back. She did these things everyday, and I found it hard to get through a weekend. It takes a truly gracious person to fill this roll. I can see the love, and fun you two have. Keep it up, and keep making videos. Hope the treatment works out. Just had to comment.
@@minonaano2763with all due respect, this comment isn’t helpful. In all reality, conditions can worsen from being on a ventilator (for example, the ventilator could fail to maintain oxygen saturations) - a medication that can essentially stall worse progression, even if that stage is being on a ventilator, is always going to be better than the inevitable deterioration that this disorder promises with no treatment.
@@minonaano2763 wtf is with your repetitive comments talking sh*t about people with this disease? You're weird and uncaring. Must suck to be such a piece of sh*t
Makes this ol' lady happy to know all that phone answering, donating, etc... for the MDA has been paying off for you and others. Could not be happier for you.
Sometime in the 1980s I worked with a fellow nurse whose son had Duchenne’s MD and was the poster child for the Missouri MDA. There was no effective treatment for him and I remember his dad (my fellow nurse) saying how much they relied on the MDA for everything. I used to donate to the MDA quite a bit because of him and because I enjoyed the telethons.
Rice a roni is delicious, the four cheese is really good, but the cheddar broccoli is where it's at. The more important message of course, is that I pray for healing and a long life for Shane, and for success in your guys' IVF journey. Beautiful family, hope it grows ❤
1:50 basically means you can dilute the sample 50 times and still detect the antibodies, so if someone had 1:100 they have more antibodies because they can be detected in more dilute solutions. I hope that helps!
@@sarinabina7068 it’s not a time stamp, UA-cam just automatically did that. They’re talking about antibody titers being 1 : 50 (1 to 50) and I was explaining what that meant
I had a son with SMA about 50 years ago. He died at about 7 months It was called something else back then and it was many years before I heard of any child with the same condition
I had a daughter with SMA 1. She would be 25 but died at 14 months as there wasn't a lot of treatments back then. I'm so happy to hear of all the new treatments and studies. ❤🎉
@@minonaano2763 goodness, what an unkind comment. While I wish that her daughter had access to better treatments to allow her a longer and fuller life, your comment completely ignores the idea that persons with SMA can live a fulfilling and enjoyable life. Just like Shane.
I don’t have SMA but I am part of a genetic study for breast cancer research and it’s a painfully slow process. They are, indeed, very safety conscious. You sound very knowledgeable and I sure wish you luck!
I lived a few miles from a Nudist camp in central Florida !! I had a family member who was running for office and made a speech in front of the nude crowd....He told the crowd " the saying goes if you are nervous giving a speech in public experts suggest imaging your crowd naked" . ...well....lol
Thank you, Hannah, for doing the research on the new SMA treatment and the comparison of all of the treatments for SMA. It's not easy to understand all of the science in a way that makes sense. Much love to you both!
This month, the FDA is evaluating a gene therapy drug for Duchenne Muscular Dystrophy for possible approval. People treated in clinical trials for MD gene therapies (SMA isn't technically a type of muscular dystrophy, as it affects motor neurons rather than muscles themselves) are all older than 2, so gene therapies can work in older people.
Truly you are a blessing to me , so informative and have me reading , learning and looking up things. One of my handicapps is holding information . Thanks and always cheering for you
Fun fact from someone working in the biologic pharmaceutical industry - those weird annoying names like "apitegromab" are actually regulated by the FDA! Also, anything ending in "mab" means that the drug is a "monoclonal antibody," which is a very specific (and VERY cool, IMO) type of drug. The drug basically works by racing your immune system to bind to the myostatin before your body can so that it's "full" and your body can't get to it - which effectively turns off the myostatin, in theory allowing someone to build muscle where they wouldn't have been able to before. These drugs work because they are active proteins like what your body already produces - putting them into pill form would deactivate the protein which is why most mabs are injections or infusions. Another [maybe not fun] ironic fact, with your analogy of getting stabbed in the eye, one of the popular mabs out there DOES get injected in the eye (to prevent or slow blindness from macular degeneration). 😂
@@conniehenson6378they already stop progression with hsct...problem is hematologists perform it and neurologists do not. see "60 minutes Australia hsct ms" see "ucirvine ms reboot" see "hsct india"
Todays dumpster dive was very interesting as the research you mentioned actually apples to nearly all motor neuron diseases Props to all the researchers involved Thank you for the summary of these research projects,kudos
You can request the grocery store special order items for you. Could be that commercials don't run for a certain products in a certain area, so the stores don't stock those items but they can still get those products.
@Squirmys And Grubs Shane- The good thing is that when this treatment IS AVAILABLE FOR YOU...... I would think you could request a port be put in so no more IV would be required. This would make getting jabbed much more easier on you!! This news is so SO exciting!! I'm so excited for your health future!!!
I started choking on my granola bar when hannah said AAV antibiotics are common and we see them all the time and shane said he saw an AAV the other day. 💀💀💀😂😂
Shane! I love to play “would you rather” with people all the time, usually my poor unsuspecting boyfriend or best friend. I ask bizarre questions like “would you rather fart classical music every day” or “vomit up an entire old corncob” once a day.
Watch with CC on due to my husband being slightly HOH. Some comments are too funny reading vs what you say. PS love all of your information and your sense of humor. Keep up the amazing work...❤❤❤
Super interesting information in the first part!!! And the “would you rather” game, I’ve seen y’all play once or twice, it’s great too! Lol You guys always get me to smile and laugh- thanks for letting us into your lives to get to know you as the wonderful, funny people you definitely seem to be! Stay excellent guys!
So, there is a Bio-Science company that is out of Columbus Ohio called Andelyn Bio-Science. It is named after two people, one of whom is a little girl named Evelyn who was born with the most severe type of SMA and because of the treatment she received, she has shown basically no symptoms of SMA and has in a way been cured. She still can't run or jump and she still shows some weakness, but she is basically a healthy little girl doing normal girl things. I know that Shane doesn't have that type of SMA, but I think it would still be something interesting to look into.
For perspective on MD, for those asking. From talking to our geneticist, both parents have to be carriers of the “defective” gene. My mother had congenital myasthenia (a form of md) so it wasn’t exactly the same as Shane’s diagnoses. Buuut my point being, both my grandparents were carriers (very rare, but in order to pass on that gene both parents have to have the gene), so both kids they had together inherited congenital myasthenia, even though they themselves did not have symptoms of md because they only were carriers. If that’s indeed Shane and Hannah’s case as well, Hannah most likely (I think they’ve already said she’s not) isn’t a carrier, so their kid should not have SMA or any variation.
@@junbh2 I have a rare form of congenital bilateral profound deafness and that was a random mutation - however we (including the doctors) do not know enough about the markers of my specific condition to be able to identify how exactly it’s passed on. So yes, technically it can be “random”. Usually however, in cases like mine, it’s just lack of research and funding to be able to get clear answers. That’s been my experience anyway. 🙂
@@TheDinnerPlate-n7n I don't know anything about them specifically. However, random mutations are a real thing regardless. Once you have the gene you still have a chance of passing it on (although in this case it's recessive so the baby would only be a carrier), but it's a common enough thing for some genetic diseases that neither parent caries the gene but there's a spontaneous mutation. There are also some other genetic conditions where almost all cases are from spontaneous mutation.
On the low tipping vs 1-hour late option - if you choose to be on time and tip low, just make sure you always always go out to eat with someone, and offer to get the meal if the get dessert and the tip. ;) You two are wonderful. And exciting news about the SMA treatment studies!
Thank you for making me laugh! When I think about people who brag all the time, I’m reminded of the character, Penelope, from SNL. I learned a lot more today about SMA too. Thank you!
I love you guys!! I also think there will be stem cell treatments in the future soon which will regenerate a lot more than even this that you mention here. Thank you for sharing you lives with us :)
There have been several studies using peptide therapy. Numerous other countries use it, but the U.S. doesn't. However, there are private sources available and I know people that have benefited from it.
i’m about a month late to commenting on this but there is actually a nudist colony somewhat close to my house lmao. i live up in some mountains on one side of a reservoir and it’s well known that the other side of the reservoir is home to a nudist colony. never been, but i’ve driven through that area plenty of times
We were watching your video and right after i saw a post about a nurse using an Infrared Vein finder to highlight the veins and help with running an IV!! have you heard or looked into this?!?!? first time we have ever seen it.
Can I ask why is intravenous administration so hard for Shane? Is it because of his flexed arms? I'm a person with SMA 2 too. My arms are getting similar but it is still possible to do bloodwork etc, soon maybe not anymore. It seems to me that Shane has a fear of needles. I fear many things too but IV isn't one of them. A numbing cream or a port might help Shane.
My 10 year old has iv infusions monthly for years for autoimmune condition. And one every 4 months of a different medication. He has a port because he was a hard stick and blew veins easily.
Rice-a-roni the San Fransisco treat! Gosh love that stuff. We have similar food tastes for soft food. Still thinkin about the soft food restaurant.... 🙂
Things brings up an interesting question. If Shane takes a new treatment that allows him to make muscle and get stronger could that pose bigger problems? He'd get heavier so there's that as far as Hannah having to lift him and also his bones are weak so how would they handle the extra weight and muscles that want to grow on limbs that are stunted and not normal size? The heart is also a muscle so is that affected? I would guess that his bones are already reformed in a way that he could never walk so he'd have muscle that would essentially just be extra weight to lift? It would significantly affect his spine curvature also most likely and become really uncomfortable. So I wonder if they could estimate exactly what the changes would be and if it would be more prudent at this point to just maintain rather than improve muscle development for the purpose of care giving? With his bone density and formation, would it even be possible for a treatment to improve enough to make a significant change? If his arms got stronger, could they straighten his hands and improve their function? Neck could get stronger, that would be good. Maybe his core so sitting would be easier? I'm just trying to imagine what could change for the better that wouldn't then increase weight and make caregiving harder. This is very interesting with lots to think about. Great podcast!
My guess is that once you're a fully mature adult the amount of muscle growth might not be very large, and might still require physio exercises to trigger the actual growth. And it would be gradual so your skeleton does have some chance to adapt (strength training increases bone density even into old age). My guess is even just having a bit more use of his hands and arms would be life changing. Or strengthening his lungs and diaphragm just a bit would improve his ability to cough and make respiratory infections and aging much less dangerous.
😂Shane I know that you play " always disagree with Hannah" to keep things interesting in the podcast but sometimes when she is right she is right, dont make the wound bleed more!!😂 Congrats on the podcast,very interesting to hear to progress of the research!!
The tipping conversations reminded me of my job as a teenager. I worked at a banquet hall and would mainly worked the coat check. Most people would tip $1 (this was in the early 2000s lol). One time this old lady picked up her coat and tipped me a quarter ($0.25 cents) I had to laugh because she even said "here's a little something for you honey".😂 And I just put my shiny new quarter in my pocket
Now I want cheesy rice-a-roni and I’m in Canada and I’m not sure we have them here. I don’t remember ever seeing these but I’m sure gonna look for some
We have the Rice-a-Roni Cups in Alabama. $1.28 per cup. Cheddar Broccoli/ Chicken Rice & Vermicelli, Four Cheese. Also the 1-serving packs for $1.92 - Herb & Butter and Spicy Spanish Rice. Who knew?
Since they have problems accessing veins on Shane, if he did do the new treatments, couldn't they install a port so that he wouldn't have to be subjected to that?
The miracle here is when I first saw the documentary on Shane he was young and he was on a show that was like how does it feel to live with no future or something like that. They were saying that they didn't see him living past 30 to 40. So the fact that he's here and so healthy with better head control is just really a miracle
This right here just proves what a dedicated partner Hannah is to Shane. It seems she is always researching his condition and she has such knowledge of it. Props to you Hannah, you are amazing!
She’s the sweetest! 🥹
@@TheDinnerPlate-n7n shut up, you stupid idiot!!!!
She’s a great partner but not exceptional for that specific action.
That's how a true partner should be, though. I know some are not very dedicated.
I think she knows more about Shane then he does.
I really do pray that there is a treatment for shane that helps his life improve he deserves so fucking much. He is so happy and such a bright light as is
I work in the pharmaceutical field, specifically on AAV, and it’s so exciting and rewarding to hear you guys talk about it! I hope gene therapy treatments will be available for you at some point. I think part of the reason it’s taking longer is because of the history of gene therapy-when they figured out it could be done, in the 1990s, they jumped into clinical trials too fast, and a man died, which halted all the clinical trials for gene therapies in the US. This caused a slow down in investment and research, and it’s taken years for clinical trials and research to really take off again. And they’re still ultra safety conscious. And part of the reason they are approving for young kids first is because one of the more dangerous risks is a inflammatory immune response, and children’s immune systems are not fully developed yet, which lowers this risk. But anyway, very exciting stuff, and I hope it’s accessible to you soon!
Wow thanks for the knowledge. Never knew any of that.
That's interesting to hear about the inflammatory response. It always bothered me that many of these treatments weren't available past a certain age or past a certain level of disease progression. It's good to know it's not just a value judgement but an actual medical reason relating to the risk.
18:21 - Shane: "My intestines work SO well."
I hereby officially declare Shane's intestines, "the Rice-A-Roni Highway."
They work so well, they're NICE-a-roni
LOLOL 🤣😂
Lol
I don’t work in the medical field and I don’t have a family member with SMA (only you guys, my friends). But I’m still very interested in hearing the news on SMA and new treatments. I’m so glad the pharmaceutical companies are working on this!
I’ve been diagnosed with multiple sclerosis for 30 years, I completely understand the exhaustion of staying up on every single “promising breakthrough” (and choosing not to) after so long. Science and medicine seem to move slowly because of the necessity for testing, but that beats the alternative!
Let me tell you how great your channel is. I am very impressed with your content. It takes a strong woman to do what Hannah does. My uncle was quadriplegic, and was married to an amazing lady for over 30 years that had to do practically everything for him. She had to wake up every two hours to turn him so he would not get bed sores, dress him, and numerous other things. When she would go out of town for a weekend I would help out. Let me tell you that is where my appreciation came for her, because by Sunday I was ready for her to come back. She did these things everyday, and I found it hard to get through a weekend. It takes a truly gracious person to fill this roll. I can see the love, and fun you two have. Keep it up, and keep making videos. Hope the treatment works out. Just had to comment.
My university designed a wheelchair add-on to carry a ventilator for a 3 year old with SMA-1. He’s been getting these treatments!
If a kid is already on vent nothing can help her out of her misery.
@@minonaano2763 Take a hike, loser.
@@minonaano2763with all due respect, this comment isn’t helpful. In all reality, conditions can worsen from being on a ventilator (for example, the ventilator could fail to maintain oxygen saturations) - a medication that can essentially stall worse progression, even if that stage is being on a ventilator, is always going to be better than the inevitable deterioration that this disorder promises with no treatment.
@@minonaano2763 wtf is with your repetitive comments talking sh*t about people with this disease? You're weird and uncaring. Must suck to be such a piece of sh*t
@@minonaano2763 wow
Makes this ol' lady happy to know all that phone answering, donating, etc... for the MDA has been paying off for you and others. Could not be happier for you.
Sometime in the 1980s I worked with a fellow nurse whose son had Duchenne’s MD and was the poster child for the Missouri MDA. There was no effective treatment for him and I remember his dad (my fellow nurse) saying how much they relied on the MDA for everything. I used to donate to the MDA quite a bit because of him and because I enjoyed the telethons.
Rice a roni is delicious, the four cheese is really good, but the cheddar broccoli is where it's at. The more important message of course, is that I pray for healing and a long life for Shane, and for success in your guys' IVF journey. Beautiful family, hope it grows ❤
1:50 basically means you can dilute the sample 50 times and still detect the antibodies, so if someone had 1:100 they have more antibodies because they can be detected in more dilute solutions. I hope that helps!
Wrong timestamp?
@@sarinabina7068 it’s not a time stamp, UA-cam just automatically did that. They’re talking about antibody titers being 1 : 50 (1 to 50) and I was explaining what that meant
I had a son with SMA about 50 years ago. He died at about 7 months It was called something else back then and it was many years before I heard of any child with the same condition
Dumpster dives are my fave. I still think about the dragonflies dive frequently. 3:57
I had a daughter with SMA 1. She would be 25 but died at 14 months as there wasn't a lot of treatments back then. I'm so happy to hear of all the new treatments and studies. ❤🎉
Hugs.... BigHug I love your grace.
She was lucky to die that young and have not suffered for long being totally paralyzed and understanding the misery of her state.
@@minonaano2763 I don't think she was lucky. That just doesn't sound right to me.
@@minonaano2763 goodness, what an unkind comment.
While I wish that her daughter had access to better treatments to allow her a longer and fuller life, your comment completely ignores the idea that persons with SMA can live a fulfilling and enjoyable life. Just like Shane.
@@susden9654 , she was unlucky to be born with this defect, she was lucky to live not long enough to suffer it. You know it.
I don’t have SMA but I am part of a genetic study for breast cancer research and it’s a painfully slow process. They are, indeed, very safety conscious. You sound very knowledgeable and I sure wish you luck!
I already commented once but I’m commenting again. When Hannah said, “what?! What is wrong with you!?” I lost it. 😂
I lived a few miles from a Nudist camp in central Florida !! I had a family member who was running for office and made a speech in front of the nude crowd....He told the crowd " the saying goes if you are nervous giving a speech in public experts suggest imaging your crowd naked" . ...well....lol
Thank you, Hannah, for doing the research on the new SMA treatment and the comparison of all of the treatments for SMA. It's not easy to understand all of the science in a way that makes sense. Much love to you both!
Very interesting and kudos to the research specialists…their determination and dedication.
(3 years later) Shane is now the size of the Incredible Hulk… 😂😂🤷🏻♀️
Never know!
This month, the FDA is evaluating a gene therapy drug for Duchenne Muscular Dystrophy for possible approval. People treated in clinical trials for MD gene therapies (SMA isn't technically a type of muscular dystrophy, as it affects motor neurons rather than muscles themselves) are all older than 2, so gene therapies can work in older people.
Truly you are a blessing to me , so informative and have me reading , learning and looking up things. One of my handicapps is holding information . Thanks and always cheering for you
Hannah is amazing! If only there were more like her.
I'm loving Shane's outfit in this!
I always love listening to your Junkyard Mayhem!! ❤️🙏
Fun fact from someone working in the biologic pharmaceutical industry - those weird annoying names like "apitegromab" are actually regulated by the FDA! Also, anything ending in "mab" means that the drug is a "monoclonal antibody," which is a very specific (and VERY cool, IMO) type of drug. The drug basically works by racing your immune system to bind to the myostatin before your body can so that it's "full" and your body can't get to it - which effectively turns off the myostatin, in theory allowing someone to build muscle where they wouldn't have been able to before. These drugs work because they are active proteins like what your body already produces - putting them into pill form would deactivate the protein which is why most mabs are injections or infusions. Another [maybe not fun] ironic fact, with your analogy of getting stabbed in the eye, one of the popular mabs out there DOES get injected in the eye (to prevent or slow blindness from macular degeneration). 😂
Wow! What a great contribution to the conversation!! Modern medical science is so cool. Thank you 🙌🏼🤗
Thanks for that interesting info! Any idea if that kind of treatment would work for collagen VI muscular dystrophy?
My sister and I both have MS, do you think there will ever be a treatment created to stop this disease?
@@conniehenson6378they already stop progression with hsct...problem is hematologists perform it and neurologists do not.
see "60 minutes Australia hsct ms"
see "ucirvine ms reboot"
see "hsct india"
I love the banter between you two! great pod cast❤❤❤
Todays dumpster dive was very interesting as the research you mentioned actually apples to nearly all motor neuron diseases
Props to all the researchers involved
Thank you for the summary of these research projects,kudos
Hannah I love yoir dumpster dives. I'd love more Info like this, you could explain things for hours and I'd still listen.
You can request the grocery store special order items for you. Could be that commercials don't run for a certain products in a certain area, so the stores don't stock those items but they can still get those products.
I love watching your videos. You both have such a wonderful relationship and the way you feed off one another is so genuine. ❤
Shane looks great and Hannah is a joy to listen to.
Hello Charmayme how are you doing today?
That "would you rather" game was so funny. You two are a hoot! 😂❤❤
Did anyone else melt when Hannah said “loveyyyyy” to Shane (on the $100,000/year vs $25mil part)
Prayers for you guy's Golden Unicorn!!! Lord please help them choose the most beautiful soul and fit!
@Squirmys And Grubs
Shane- The good thing is that when this treatment IS AVAILABLE FOR YOU...... I would think you could request a port be put in so no more IV would be required. This would make getting jabbed much more easier on you!! This news is so SO exciting!! I'm so excited for your health future!!!
I love this podcast omg ❤ 🤟🏼 hello from Minnesota 😁 (the weather is finally getting better!!)
Hannah, I would never want to argue with you. 😂 you would back up every single thing with research articles/studies.
I started choking on my granola bar when hannah said AAV antibiotics are common and we see them all the time and shane said he saw an AAV the other day. 💀💀💀😂😂
Shane! I love to play “would you rather” with people all the time, usually my poor unsuspecting boyfriend or best friend. I ask bizarre questions like “would you rather fart classical music every day” or “vomit up an entire old corncob” once a day.
Watch with CC on due to my husband being slightly HOH. Some comments are too funny reading vs what you say. PS love all of your information and your sense of humor. Keep up the amazing work...❤❤❤
Love watching you guys. Shane is hilarious! He should do comedy. ❤ Good vibes for IVF.
Super interesting information in the first part!!! And the “would you rather” game, I’ve seen y’all play once or twice, it’s great too! Lol You guys always get me to smile and laugh- thanks for letting us into your lives to get to know you as the wonderful, funny people you definitely seem to be! Stay excellent guys!
So, there is a Bio-Science company that is out of Columbus Ohio called Andelyn Bio-Science. It is named after two people, one of whom is a little girl named Evelyn who was born with the most severe type of SMA and because of the treatment she received, she has shown basically no symptoms of SMA and has in a way been cured. She still can't run or jump and she still shows some weakness, but she is basically a healthy little girl doing normal girl things. I know that Shane doesn't have that type of SMA, but I think it would still be something interesting to look into.
I like watching you'll. Shane has me laughing all the time. Blessings
Shane, try Zataran's Rice and Beans. They have black or red beans and its a bit spicy. I add polish sausage but its good without anything added. ❤
Yes! Kielbasa not fresh polish sausage.
I was thinking about red beans and rice just the other day. Gotta get me some 😅
Chicken is good too with it
For perspective on MD, for those asking. From talking to our geneticist, both parents have to be carriers of the “defective” gene.
My mother had congenital myasthenia (a form of md) so it wasn’t exactly the same as Shane’s diagnoses.
Buuut my point being, both my grandparents were carriers (very rare, but in order to pass on that gene both parents have to have the gene), so both kids they had together inherited congenital myasthenia, even though they themselves did not have symptoms of md because they only were carriers.
If that’s indeed Shane and Hannah’s case as well, Hannah most likely (I think they’ve already said she’s not) isn’t a carrier, so their kid should not have SMA or any variation.
@@TheDinnerPlate-n7n You’re clearly not an English teacher.
“Yet, you’re not a doctor. Are you?”
What else is not my profession? I love this game! 😁
It can also be a spontaneous mutation, can it not? That's the case with many genetic diseases.
@@junbh2 I have a rare form of congenital bilateral profound deafness and that was a random mutation - however we (including the doctors) do not know enough about the markers of my specific condition to be able to identify how exactly it’s passed on. So yes, technically it can be “random”. Usually however, in cases like mine, it’s just lack of research and funding to be able to get clear answers. That’s been my experience anyway. 🙂
@@TheDinnerPlate-n7n I don't know anything about them specifically. However, random mutations are a real thing regardless. Once you have the gene you still have a chance of passing it on (although in this case it's recessive so the baby would only be a carrier), but it's a common enough thing for some genetic diseases that neither parent caries the gene but there's a spontaneous mutation. There are also some other genetic conditions where almost all cases are from spontaneous mutation.
You can actually test to see if you're a carrier of SMA (as well as other disorders), which Hannah did, and she's not a carrier.
On the low tipping vs 1-hour late option - if you choose to be on time and tip low, just make sure you always always go out to eat with someone, and offer to get the meal if the get dessert and the tip. ;)
You two are wonderful. And exciting news about the SMA treatment studies!
You're welcome! Thanks for making all these all these epic videos!
Hello meebles how are you doing today?
Hopefully, the new SMA treatment will be approved soon.
Love you guys, you are amazing ❤
Thank you! Yes it is a junkyard out here!
Hey guys love y’all’s channel. Y’all crack me up. Good luck on IVF. Can’t wait to see a little squirmy and Grubbs. God bless!!!😊
Baby squirmy and grubbs would be a squib 😂
Great podcast You two are funny and love getting educated on sma and the questions that make you think ❤❤
Aww im here early for once. 💕💕 love you guys! Good to see y’all are doing good!
Thanks
Thank you for making me laugh! When I think about people who brag all the time, I’m reminded of the character, Penelope, from SNL. I learned a lot more today about SMA too. Thank you!
Fascinating! Best of luck in your search for improvement. 😮
Love, love, love this episode about new SMA treatments. I'm into this type of stuff!
It's been 24 hours since I listened to this episode and I'm back to say I've been repeating "apitagromab" randomly to myself all day. 😂🤦🏼♀️
So funny, we too have just rediscovered rice a roni and are loving it!!
I love you guys!! I also think there will be stem cell treatments in the future soon which will regenerate a lot more than even this that you mention here. Thank you for sharing you lives with us :)
Depending on how it’s formatted in the document, if it says (1,50) or [1,50], it’s referring to an interval (range of values)😊
The rice-a-roni made me smile! I did not know they came out with microwaveable cups! Great video! ❤🎉😂
Yes. I discovered it too a few years ago.
Great minds.....
Love you guys. ❤
Shane, you look great! Your ensemble is A+.
I'm jealous of those shoes, especially.
You got me on the game would you rather. My favorite is Hannah doesn’t like it and play so well
I love you guys 💗 You made my day!
Hello Karen 😊 how are you doing today?
The third ingredient in Rice a Roni is salt and it has msg in it. You can decrease the sodium by using only half of the seasoning.
Shane's 'Would You Rather' game had me laughing out loud!!!
The Popeye 💊 pill😅. Love it! It also totally gave me an instant impression of what it does.
Hello Faith 😃 how are you doing today?
There is a nudist park in my town here in NH- and, no I’ve never been. It’s called Cedar Waters. So there ARE still nudist parks around!
So happy for new treatment. Love you both Blessings
They use viruses for treatment now!
I would be clueless about such mindblowing things if not for your dumpster dives. Looking forward to the next one!
You are both amazing. Bless you as parents 😊
Lol, Hannah's response to languages vs instruments was my response perfectly. I so get her sometimes.
Of course you're going to find more of it when it was originally marketed it was called the San Francisco treat so yeah it's kind of local to there
There have been several studies using peptide therapy. Numerous other countries use it, but the U.S. doesn't. However, there are private sources available and I know people that have benefited from it.
Please tell more.
Now my brain is superimposing a hulked out duck onto Shane’s body 🤣🤣🤣
i’m about a month late to commenting on this but there is actually a nudist colony somewhat close to my house lmao. i live up in some mountains on one side of a reservoir and it’s well known that the other side of the reservoir is home to a nudist colony. never been, but i’ve driven through that area plenty of times
That was a very educational video…you’ve been in my thoughts and prayers as you go through IVF❤🙏
We were watching your video and right after i saw a post about a nurse using an Infrared Vein finder to highlight the veins and help with running an IV!! have you heard or looked into this?!?!? first time we have ever seen it.
You guys are so good & certainly make me laugh.
Can I ask why is intravenous administration so hard for Shane? Is it because of his flexed arms? I'm a person with SMA 2 too. My arms are getting similar but it is still possible to do bloodwork etc, soon maybe not anymore. It seems to me that Shane has a fear of needles. I fear many things too but IV isn't one of them. A numbing cream or a port might help Shane.
🤦♀️ The desire for someone to hand them a calculator right now is so strong! 47:04
Yes, yes, I love Rice-a-Roni too! It’s so bad for me but I don’t care, I eat it when I can find it! Way to go Shane!
I just love you guys... it's my early morning wake up call!
My 10 year old has iv infusions monthly for years for autoimmune condition. And one every 4 months of a different medication.
He has a port because he was a hard stick and blew veins easily.
Rice-a-roni the San Fransisco treat! Gosh love that stuff. We have similar food tastes for soft food. Still thinkin about the soft food restaurant.... 🙂
Any idea why they don't put an infusion port in you for the SMA treatments like they do for chemo treatments for cancer patients?-- Jim
Things brings up an interesting question. If Shane takes a new treatment that allows him to make muscle and get stronger could that pose bigger problems? He'd get heavier so there's that as far as Hannah having to lift him and also his bones are weak so how would they handle the extra weight and muscles that want to grow on limbs that are stunted and not normal size? The heart is also a muscle so is that affected? I would guess that his bones are already reformed in a way that he could never walk so he'd have muscle that would essentially just be extra weight to lift? It would significantly affect his spine curvature also most likely and become really uncomfortable. So I wonder if they could estimate exactly what the changes would be and if it would be more prudent at this point to just maintain rather than improve muscle development for the purpose of care giving? With his bone density and formation, would it even be possible for a treatment to improve enough to make a significant change? If his arms got stronger, could they straighten his hands and improve their function? Neck could get stronger, that would be good. Maybe his core so sitting would be easier? I'm just trying to imagine what could change for the better that wouldn't then increase weight and make caregiving harder. This is very interesting with lots to think about. Great podcast!
My guess is that once you're a fully mature adult the amount of muscle growth might not be very large, and might still require physio exercises to trigger the actual growth. And it would be gradual so your skeleton does have some chance to adapt (strength training increases bone density even into old age). My guess is even just having a bit more use of his hands and arms would be life changing. Or strengthening his lungs and diaphragm just a bit would improve his ability to cough and make respiratory infections and aging much less dangerous.
😂Shane I know that you play " always disagree with Hannah" to keep things interesting in the podcast but sometimes when she is right she is right, dont make the wound bleed more!!😂 Congrats on the podcast,very interesting to hear to progress of the research!!
The tipping conversations reminded me of my job as a teenager. I worked at a banquet hall and would mainly worked the coat check. Most people would tip $1 (this was in the early 2000s lol). One time this old lady picked up her coat and tipped me a quarter ($0.25 cents) I had to laugh because she even said "here's a little something for you honey".😂 And I just put my shiny new quarter in my pocket
I loved the rice-o-roni chat!
Now I want cheesy rice-a-roni and I’m in Canada and I’m not sure we have them here. I don’t remember ever seeing these but I’m sure gonna look for some
Good to see you guys
You both are so great and a joy😊 love 💕 you both.
We have the Rice-a-Roni Cups in Alabama. $1.28 per cup. Cheddar Broccoli/ Chicken Rice & Vermicelli, Four Cheese. Also the 1-serving packs for $1.92 - Herb & Butter and Spicy Spanish Rice. Who knew?
Since they have problems accessing veins on Shane, if he did do the new treatments, couldn't they install a port so that he wouldn't have to be subjected to that?