Noonan's Syndrome - CRASH! Medical Review Series
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- เผยแพร่เมื่อ 24 ก.ค. 2024
- (Disclaimer: The medical information contained herein is intended for physician medical licensing exam review purposes only, and are not intended for diagnosis of any illness. If you think you may be suffering from any medical condition, you should consult your physician or seek immediate medical attention.)
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Im 20 yrs old and was diagnosed with Noonan Syndrome at Birth I've had no open-heart surgeries and never needed one I was lucky and fortunate to be able to grow out of my heart problem but I still struggle with the syndrome to this day mentally and emotionally but I overcame it and now currently living a healthy life with ALOT of support and very thankful for everyone who helped me in my life so far!
I hope you are doing well brother
Did u have writing, reading and slow in responding to stimuli and speech problems earlier...plez answer it...my cxn bro is also suffering from this syndrome.
That mugshot made laugh and i regret the laughing
Thanks dr.Bolin. My medical knowledge is getting better since I started watching your videos.
U are the real boss......You are really a hardworking and benevolent person.....Love and support for you......
great job on this doc. ! thank you
Thanks for the useful video about Noonan's Syndrome.
I have nonnan syndrome and I am now 57
excellent explanation!
I’m a 50 yr male 1st gen NS with two heart surgeries, near deaf and learning disabilities and 5’3”. Thank you for this information and hope.
I wish you well my brother I hope you are doing ok and I wish you good health
great pictures thanks for the explaination
I was diagnosed with Noonan Syndrome at 34. My son was born with Palmonic stenosis, he tested positive, and then tested me because I have Von Willebrands Disease and am 5'2". I'm 38 now and my son is almost 4 and still trying to learn and wrap my head around how this was missed for so long in me.
Could you please send me the source of the information (paper or article) i would be very grateful to you
My sister had noonan syndrome.. she died at the age of 16 due to cancer of the white blood cells.. It was then that we discovered that noonan patients have an increased risk of developing cancer of blood cells around this age.. so if you know someone who has this, please do routine check up of her/him regularly.. she died because the cancer was dicovered at a very later stage..
Valuable info, thank you very much! Out of curiosity, would you maybe briefly describe how living with her was (dfficulties, special considerations, etc.)?
Hii Mani sorry that u lost ur sis. I suspect my family member has the symptoms. Where can we go for the diagnosis?
Hi i'm sorry for your sister i wasn't knowing that my brother was having a syndrome noonan my parents thought that he's handicapped my dad is biologist and he didn't knowing that one day my sister is a biology student she was searching in TH-cam to do research about a disease she discovered this and she tell us my brother died when he was having 24 years old The doctor told us that he had a warp in the rib cage which caused him difficulty breathing in the lung and pressing the heart 🕊🥺💔
can you share the powerpoint presentation?
I'm 31, my 3rd generation NS (Goes on the Maternal side). I'm 5'3'' and didn't start growing much til I was 19 before that i was 4'6'' and weighed 75 pounds. I didn't start pub. til 17 yo. . I was lucky to have had no heart surgeries yet was monitored til i was 15 years old. I do have bruising and bleeding disorders. This is a topic not many people know about. I dont suggest growth hormones
Ryan Crawford why don’t you suggest growth hormones?
I am 39 and was diagnosed with Noonan's at 3 years old after a year of going to doctors trying to find out what was wrong with me. I am lucky enough that I don't have any severe problems. I do have a heart murmur that is monitored, I have to wear glasses or I'm completely blind, I was put on birth control because of my heavy periods and also take Synthroid for Hashimoto's Disease, and I also bruise easily. Even though it may seem like I have a lot of problems I still consider myself lucky because all of mine are treatable. I am a very proud 5'3 because when I was younger doctors didn't believe I could reach 5 ft. tall.
Hope you're still doing well 😊
I have NS and im 35 i only stand 5ft0 weigh 96 to 98 and im doing fine other then vision and learning bifficulties and seizures other wise im doing well
34 and I have it.
Along with Neurofibromatosis Type 1. So the symptoms can jumble.
My vision is pretty much in the toilet, and I may look a little odd, but no major set backs save for one thing.
Do you mind if I ask if your fingers/hands have brachydactyly?
Clubbing?
Both my thumbs are...kinda stumpy.
An annoyance at worst, but I seldom meet others with Noonan's. And was always told the thumbs were due to it rather than the NF.
Feel free to tell me to mind my own business though.
😉
Cheers
@@joelbizzell1386 My partner is 22 and has NS. Unfortunately, she's coupled with a multitude of heart conditions - hypertrophic cardiomyopathy, pulmonary valve stenosis, congenital heart disease, pulmonary regurgitation, Jacobsen's Syndrome (Chromosome 11 Missing, however a genetic condition) and the list unfortunately still goes on as time does..
Despite all this, she actually looks.. mostly completely normal, and functions mostly completely normal. Her physical features are almost completely indistinguishable from normal, but she does have limitations on mobility and energy. She also has 5 bulging discs in her back, and all of these have been determined to be a result of the Noonan's Syndrome she has.
I'm not sure how much she'd appreciate me sharing this, but at the same time, I feel it's vital to connect with people who experience this in different ways as Noonan's deserves its spot in medicinal limelight - so to speak. Too many people suffer far too much, far too silently, from this terrible illness and all I want is to share information about what I've experienced because of my partner. That way, Noonan's can be spoken about, and more people can get the help they not only need, but deserve..
I can also confirm she definitely doesn't have stumpy thumbs or any hand issues (apart from fluid buildup due to cardiac failure), but her vision is 100% in the toilet and she cannot legally drive. I hope this helps somehow.
Excellent video.
Turner syndrome CAN be inherited, though it is much much more rare. Turner syndrome caused by a partial deletion of the X chromosome can be passed from one generation to the next.
Recently the doctors found that I have severe Zinc deficiency
hi my name katie i'v got noonan's syndrome and i do suffer with handache iv had the noonan's syndrome 1999 and iv find out on my 26 brithday by my doctor
good review thanku !!
so if a baby is born with Noonan , what is the next best step in management ? Cardiac workup?
+Free Floating - noted !
+Nitin Sabharwal don't do that
Hello, I am 30 and I have Noonan Syndrome. I had two heart surgeries when I was young but now I am doing really well. Recently the doctors found that I have severe iron deficiency and they believe that it is because of gluten intolerance. Do you have any information that this is relevant to the syndrome?
Im an adult also and I think I might have NS too....
Gluten intolerance can be due to celiac disease
I have nonnan syndrome and I am now 13
Apple White de
What dat neck do ?
90 day fiancé bought me here
Do people with Noonan syndrome have a slower speech pattern ?
no, I have it and it doesn't affect my speech but I don't know about others :/
I have Noonan syndrome and I am 12
didnt know what was wrong with my son now i know
is it possible to be 26 and think you have noonen sydrome?
I was just about to ask exactly the same question! ..Im peter by the way.
Peter waverley hi Peter, why are you thinking that you might have noonan?
@@Sarina-hi2op Combination of short stature as an adult male (159cm) and also childhood experience of some noonan symptoms I guess.
plus one other thing I forgot to mention as well. - had more recent gluten intolerance / coeliac diagnosis (5 years ago) which again is (so I understand) far more common among those with noonan than among the general population. Interesting?
They have tendency to have hygromas innfancy ( lymphangioma) , and so does turner's.
Eugenics, NOW
I actually have both Noonan's and Neurofibromatosis.
The systems of which are, for the most part, easy enough to cope with. My vision is pretty awful. And I look funny but the brachydactyly is the one that annoys me the most. Type D. Bilateral in my case.
Goddamn toe thumbs.
Seems rather insignificant, but the usefulness of my thumbs, given the short length, width, and limited range, has been significantly reduced.
...
That, for those interested.
Thank you for sharing your experience! Greetings from a med student
i think i have an undiagnosed genetic condition.. meaning i think I'm Neanderthal hybrid more than normal
👍👍👍👍
I really enjoyed this until it got to the management part and it became clear that once again the only time diagnosis and management are considered worthwhile are in the minority lucky enough to get diagnosed as children. The vast majority of us have lived horribly difficult confusing lives not knowing what the hell is wrong with us and yet the only people who get any kind of attention are those lucky enough to have been born post-genetic testing for Noonan's AND who happened to not get misdiagnosed with asthma and a million other things AND to have parents with any interest in taking us to find out why we were different.
12:28
Bury It In The Great Pit of Sparta Syndrome.
I have nonnans SYDROME
Pastel Princess and how do you handle with that?
No cure for this.yet ..huh?
Maybe NECKS year.....
AWSOMUS MUSIC. LMAO 🤣
Im 57, my 3rd generation NS (Goes on the Maternal side)
im suicidal bruh.
I am Sindrome Noonan today for about many year.
I'm a genetic counselor, and I'm waiting for the day I hear about a case of a male who turns out to have Turner syndrome via an X bearing the SRY gene.
My theory is that such a fetus has been conceived at least once, but since feti with Turner syndrome are already so fragile, this results in miscarriage.
I have TS (and, unsurprisingly, have a female phenotype). Individuals with 45X0/46XY mosaicism can have male phenotypes as far as I know? This is rare, but probably more likely than what you are describing?
Who's here because of Lenox Hill?
😡
I've had Noonan syndrome for 18 years