I love that you’re talking about Fragile X. My genetic counselor and geneticist found out I had this problem, when they were looking into Turner’s Syndrome. Because I am female, I have almost no issues, with my Fragile X, except some menstrual related dysfunction. I don’t plan on having kids, because I am a carrier of many scary genetic illnesses, and I don’t want someone else to suffer, like I have, just to have a child.
I made the same decision prior to turning 14. Between how aweful my adoptive parents were and my (at the time) undiagnosed disorders that appear in families (adhd, autism and hEDS still do not have a single genetic marker and this is back in late 1970s) I figured out pretty young that having children of my own was a bad decision.
@@loganskiwyse7823 it’s ironic that you mention hEDS. That’s the disease that got me to the genetics clinic. Since I was diagnosed with hEDS in 2016, 30+ members of my family, both close, like my brothers, and more distant, like my third cousin once removed, are either confirmed or suspected of having hEDS. It’s not just one side of my family either. My mom has a confirmed case, my dad is not Hypermobile what so ever, but his sister is, so it was determined my dad was a carrier. Because of my parents’ status, it has left all three of their children with the disease. I am the only child that has the worst of the disease, but it still affects so many people I am around!
21 yo biological male here recently diagnosed with heds. Have had chronic pain since 16. Your channel has really helped me better cope with my condition. It is so misunderstood!!
If you are dealing with something like this, you're far more likely to get diagnosed and helped while still on the younger side. Nearly 60 and no one wants to look for hypermobility disorders as an option for my joint and related chronic pain. It just gets too easy for doctors to ignore you due to age. If you have mental health diagnosis on top of that, then despite the nearly 75% overlap with hEDS and ADHD or over 30% overlap with autism it is even more likely the GP will just think you are hypochondriac instead of looking at the symptoms.
I truly enjoyed your video ladies and I like the way you break things down so it’s easy to understand. Izzy, I have followed you for quite some time, because after my Chiari Malformation surgery, I was diagnosed with Ehlers Danlos Syndrome. Gray’s Anatomy did a show where one of the characters had Chiari Malformation surgery and it was a total joke. She was walking around like nothing and her bandage was practically a Band-Aid. I can honestly say it was nothing like that, it was the most excruciating painful experience, and so much more complex then they lead you to believe. There’s not one cookie-cutter approach surgery. There are many variants. Anyway, this is why I truly enjoy both of you taking the time to speak out and explain those misrepresented conditions and shed the light on what they truly are! Thank you both so much! Greatly appreciated! 🥰Dee
Thanks for following my journey for a while! ughhh i hate when medical TV shows drastically misrepresent a condition, surgery, or experience. I'm sure it doesn't feel good to have went through that and then have a medical show portray it like it is no big deal
@@IzzyKDNA Thank you for responding… it’s so true, but I know you understand this. It’s Thanks to you for helping me better understand my diagnosis. I learned so much from you and I appreciate all of your efforts to educate as many people as you can! You helped more people than you can imagine! If you ever get a chance, I made a little video with a write up on my story for Chiari awareness month and I honestly other than a few friends I’m probably the only one that watched it the most lol 😂. Anyway no pressure. It’s under my name Dolores Livoti. Thank you again for responding! Take care of yourself, be well! 🙏🏼🥰Dee
I have FBN1gene VUS but diagnosed heds before. Also have dysautonomia, avascular necrosis, bicornuate uterus, and my urethra was narrowed had to be enlarged as a baby. They said the hip necrosis was from Perthes disease as a child that a few drs thought I had leukemia I had to have extensive testing. I am hypermobile and some valve issues.
Really interesting stuff! In the future I'd love it if you did a video on TNXB-hEDS/clEDS. Aftering being diagnosed with hEDS for a while I recently found out that I actually have a pathogenic EDS linked TNXB mutation and unfortunately there is so little info on it that even my geneticist isn't really sure how to advise me on it
Izzy! I see you're credited on the preprint on hEDS genes from hEDS. Could you please make a video on what KLK15 actually does in the body and why a missense variant would present with hEDS symptoms?
I also sifted through literally all of the 100+ disease markers they screened for. Maybe one of them was even applicable to South Asians. The main populations I saw over and over were Ashkenazi Jewish, and Northern European.
I wish someone could solve my case. It's been going on for 8 years, and I've seen maybe 17 different doctors, some of them multiple times in various specialties. Over the last 8 years, my issues have become chronic, and now I'm not working because of everything. My experience has been terrible, with constant referrals from one doctor to another. I wish so badly we had a system like in Malaysia. At places like Prince Court Medical Center, you can get a full body checkup in one day, including lunch, with results and copies given to you right away. In the US, it takes months to see multiple doctors. From my research, they also do more intensive blood testing than the standard in the US.
Hey Izzy I am sorry to have to be that intense person but I was wondering, can you give us an update on what happened to your wrist please? (the video from 5yrs ago) I can't find any other videos that follows up on how you managed to solve your wrist issue or what it was exactly. I would really really appreciate more info on that as I am in the sane situation and its been two months of pain now and no doctor has been able to really help me. BTW your channel is amazing and thank you for sharing your experiences with us all.
I was supposed to see one. But he just looked at my chart and told my primary care doctor that I probably had Ehlers Danlos Syndrome but since it can't be cured there was no reason for him to see me.
@@Catlily5 my parent's wanted me to see one so I did I have a rare chromosomal abnormality that has no syndrome name it is called microduplication of chromosome 12p.
@Lilycat5 not really just a learning disability and developmental delay. I also have am uncommon skin condition called HS buy I don't think that it's related
Izzy, congratulations on graduating! 🎉 So proud of you. We need many more medical professionals as bright and compassionate as you.
Thank you!!!!!!
I love that you’re talking about Fragile X. My genetic counselor and geneticist found out I had this problem, when they were looking into Turner’s Syndrome. Because I am female, I have almost no issues, with my Fragile X, except some menstrual related dysfunction. I don’t plan on having kids, because I am a carrier of many scary genetic illnesses, and I don’t want someone else to suffer, like I have, just to have a child.
Right ❤❤❤❤
I made the same decision prior to turning 14. Between how aweful my adoptive parents were and my (at the time) undiagnosed disorders that appear in families (adhd, autism and hEDS still do not have a single genetic marker and this is back in late 1970s) I figured out pretty young that having children of my own was a bad decision.
@@loganskiwyse7823 it’s ironic that you mention hEDS. That’s the disease that got me to the genetics clinic. Since I was diagnosed with hEDS in 2016, 30+ members of my family, both close, like my brothers, and more distant, like my third cousin once removed, are either confirmed or suspected of having hEDS. It’s not just one side of my family either. My mom has a confirmed case, my dad is not Hypermobile what so ever, but his sister is, so it was determined my dad was a carrier. Because of my parents’ status, it has left all three of their children with the disease. I am the only child that has the worst of the disease, but it still affects so many people I am around!
21 yo biological male here recently diagnosed with heds. Have had chronic pain since 16. Your channel has really helped me better cope with my condition. It is so misunderstood!!
If you are dealing with something like this, you're far more likely to get diagnosed and helped while still on the younger side. Nearly 60 and no one wants to look for hypermobility disorders as an option for my joint and related chronic pain. It just gets too easy for doctors to ignore you due to age. If you have mental health diagnosis on top of that, then despite the nearly 75% overlap with hEDS and ADHD or over 30% overlap with autism it is even more likely the GP will just think you are hypochondriac instead of looking at the symptoms.
I truly enjoyed your video ladies and I like the way you break things down so it’s easy to understand. Izzy, I have followed you for quite some time, because after my Chiari Malformation surgery, I was diagnosed with Ehlers Danlos Syndrome. Gray’s Anatomy did a show where one of the characters had Chiari Malformation surgery and it was a total joke. She was walking around like nothing and her bandage was practically a Band-Aid. I can honestly say it was nothing like that, it was the most excruciating painful experience, and so much more complex then they lead you to believe. There’s not one cookie-cutter approach surgery. There are many variants. Anyway, this is why I truly enjoy both of you taking the time to speak out and explain those misrepresented conditions and shed the light on what they truly are! Thank you both so much! Greatly appreciated! 🥰Dee
Thanks for following my journey for a while! ughhh i hate when medical TV shows drastically misrepresent a condition, surgery, or experience. I'm sure it doesn't feel good to have went through that and then have a medical show portray it like it is no big deal
@@IzzyKDNA Thank you for responding… it’s so true, but I know you understand this. It’s Thanks to you for helping me better understand my diagnosis. I learned so much from you and I appreciate all of your efforts to educate as many people as you can! You helped more people than you can imagine! If you ever get a chance, I made a little video with a write up on my story for Chiari awareness month and I honestly other than a few friends I’m probably the only one that watched it the most lol 😂. Anyway no pressure.
It’s under my name Dolores Livoti.
Thank you again for responding!
Take care of yourself, be well!
🙏🏼🥰Dee
I will definitely look this up later! ☺️
@@IzzyKDNA Greatly appreciated more than you know! Thank you 🙏🏼 🥰Dee
I’m so proud of you. I love all your videos. This information along with all your videos, are very helpful and educational. Thank you for sharing. ❤
Thank you so much!! ❤️❤️❤️
i’m so glad to see your content in here again, and i can’t wait to continue to learn with you!
You are great together! I was disappointed that the video ended so soon. I hope you do a lot more work together! 😎😎
Thank you!!!! We have another video in the works that I'm planning to release in a few weeks!
I have FBN1gene VUS but diagnosed heds before. Also have dysautonomia, avascular necrosis, bicornuate uterus, and my urethra was narrowed had to be enlarged as a baby. They said the hip necrosis was from Perthes disease as a child that a few drs thought I had leukemia I had to have extensive testing. I am hypermobile and some valve issues.
Really interesting stuff!
In the future I'd love it if you did a video on TNXB-hEDS/clEDS. Aftering being diagnosed with hEDS for a while I recently found out that I actually have a pathogenic EDS linked TNXB mutation and unfortunately there is so little info on it that even my geneticist isn't really sure how to advise me on it
I've been planning on doing a video on this for a while! I'll definitely bump this up on my to do list, though! :)
great to see you again!
Izzy! I see you're credited on the preprint on hEDS genes from hEDS. Could you please make a video on what KLK15 actually does in the body and why a missense variant would present with hEDS symptoms?
After hearing about the 23andMe breach I will not do that kind of stuff. I don't want Google to know more than they know now. lol
I also sifted through literally all of the 100+ disease markers they screened for. Maybe one of them was even applicable to South Asians. The main populations I saw over and over were Ashkenazi Jewish, and Northern European.
Thanks for putting this together! I've been enjoying your videos for many years!
I love your new name! So proud of you!
Hopefully RUclips will give you the from a genetic counselor licensed in the US badge. 🙂
OMG thank you!!!!!! I really wanted to pick channel different name that's not just my name, especially since I am seeing patients now.
I wish someone could solve my case. It's been going on for 8 years, and I've seen maybe 17 different doctors, some of them multiple times in various specialties. Over the last 8 years, my issues have become chronic, and now I'm not working because of everything. My experience has been terrible, with constant referrals from one doctor to another. I wish so badly we had a system like in Malaysia. At places like Prince Court Medical Center, you can get a full body checkup in one day, including lunch, with results and copies given to you right away. In the US, it takes months to see multiple doctors. From my research, they also do more intensive blood testing than the standard in the US.
Amazing Video i enjoy very cool Love it you are so pretty beautiful stunning Queens
Thank you!!!! 🧬
Hey Izzy I am sorry to have to be that intense person but I was wondering, can you give us an update on what happened to your wrist please? (the video from 5yrs ago) I can't find any other videos that follows up on how you managed to solve your wrist issue or what it was exactly. I would really really appreciate more info on that as I am in the sane situation and its been two months of pain now and no doctor has been able to really help me. BTW your channel is amazing and thank you for sharing your experiences with us all.
I hope you're ok. Rough world we live in right now. 💞
Love seeing your videos!
Izzy, do you know about Arthritis and hEDS? I am 40 y.o. and just learn that I have hips and back OA (probably also in wrists).
You should React to "Private Practice" S2E2!
I've seen a geneticist before 😊
I was supposed to see one. But he just looked at my chart and told my primary care doctor that I probably had Ehlers Danlos Syndrome but since it can't be cured there was no reason for him to see me.
@@Catlily5 my parent's wanted me to see one so I did I have a rare chromosomal abnormality that has no syndrome name it is called microduplication of chromosome 12p.
@@tanagiberson4770 Does it cause a lot of problems?
@Lilycat5 not really just a learning disability and developmental delay. I also have am uncommon skin condition called HS buy I don't think that it's related
@@tanagiberson4770 👍
How is ur pots now
You should collab with Amanda Rae, an ex cult member of the incestuos polygamist Kingston clan.