This young man is coping with a rare disease that doesn't have a name

  
Via:  perrie-halpern  •  one month ago  •  20 comments

This young man is coping with a rare disease that doesn't have a name
Mitchell Herndon has a disease so rare that there is no name for it. As one of only two known patients in the world, he grapples with a reality that sees him as a case study for doctors who are only beginning to learn about his condition.

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Perrie Halpern R.A.
1  seeder  Perrie Halpern R.A.    one month ago

A few take aways from this.

First of all what an amazing young man he was. 

Second, just a few short years ago, they might have never been able to identify what was wrong with him. It is amazing how far we have come in gene science. 

Third, never give up looking for an answer when it comes to your health. 

Finally, there is a great series on Netflix called 'Diagnosis". I would highly suggest it to anyone who has been ill but not getting any answers. 

 
 
 
Paula Bartholomew
1.1  Paula Bartholomew  replied to  Perrie Halpern R.A. @1    one month ago

I can't read the article because I have AB+.  There is another series called Chasing The Cure.  It is informative and totally fascinating to watch.

 
 
 
Perrie Halpern R.A.
1.1.1  seeder  Perrie Halpern R.A.  replied to  Paula Bartholomew @1.1    one month ago

What is AB+? A blood type?

 
 
 
Buzz of the Orient
2  Buzz of the Orient    one month ago

Because I can't open the link, and there is no text, I have to guess what the disease is.  Judging from the picture, is he a giant?  If so, maybe Andre the Giant in the movie The Princess Bride had the same disease.

 
 
 
sandy-2021492
2.1  sandy-2021492  replied to  Buzz of the Orient @2    one month ago

There's no name for it, because it's so rare.  He has a gene mutation that causes a defective enzyme important in the breakdown of fats within cells, leading to toxicity.  It's affecting his nerves.  He can't feel hot or cold below his waist, can't feel pain, and his legs are weak.

 
 
 
Buzz of the Orient
2.1.1  Buzz of the Orient  replied to  sandy-2021492 @2.1    one month ago

Thanks for the info.  Did the video not say anything about his size?

 
 
 
sandy-2021492
2.1.2  sandy-2021492  replied to  Buzz of the Orient @2.1.1    one month ago

No.  I don't think he is unusual in size - it's his wheelchair that makes it appear so in still shots.

 
 
 
sandy-2021492
2.2  sandy-2021492  replied to  Buzz of the Orient @2    one month ago

I just read the article, where before I had only watched the video.  The article had very little information on the disease.  But it did say that Mitchell passed away at the age of 19 before he had a chance to be the test subject for a new drug that might have been helpful.  His family donated his body to science.  Another child has been identified who has the same mutation, and the research done during the course of Mitchell's disease may help that child.

He was a remarkable young man.

 
 
 
GaJenn78
2.2.1  GaJenn78  replied to  sandy-2021492 @2.2    one month ago

My oldest daughter has KTS, it's a rare congenital disease that affects just a small portion of people. Hers is a mild case but we still did the surgery. Most people who suffer from it have overly large limbs. Thankfully Anna had a mild case. But she has the pigmentation on her right leg which is larger than the other, and slightly longer than the other. We did surgery when she was 12 and diagnosed (it's usually diagnosed at birth, which makes her case, pretty mild), there were 2 options, drill out some growth plate in her femur, or extend the leg. Her leg was only about 2cm off, and she was a dancer so we opted for the growth plate. That worked. Her right leg still has the pigmentation but she has evened out. The school kept trying to tell me she had scoliosis even though her back was fine. She had just been adjusting due to the 2cm.

 
 
 
sandy-2021492
2.2.2  sandy-2021492  replied to  GaJenn78 @2.2.1    one month ago

I'm glad her case is mild and that you were able to get a diagnosis.  Will she require ongoing treatment?  Of course, you shouldn't answer if you'd rather not, as I don't mean to pry. 

I had never heard of KTS before you mentioned it.

 
 
 
Perrie Halpern R.A.
2.2.3  seeder  Perrie Halpern R.A.  replied to  GaJenn78 @2.2.1    one month ago

Jenn,

Can you explain to us a bit more about this disease? 

 
 
 
GaJenn78
2.2.4  GaJenn78  replied to  Perrie Halpern R.A. @2.2.3    one month ago

Klipplen Trononay Syndrome (sp?). It makes one limb bigger than the other. 

 
 
 
GaJenn78
2.2.5  GaJenn78  replied to  sandy-2021492 @2.2.2    one month ago

No ongoing treatment, we just have to keep and eye on her leg. One of her vein valves is backwards so we watch for blood clots. She was able to pick dance and XC right back up after her recovery. :-)

 
 
 
GaJenn78
2.2.6  GaJenn78  replied to  Perrie Halpern R.A. @2.2.3    one month ago

Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.Oct 1, 2019

 
 
 
Paula Bartholomew
2.3  Paula Bartholomew  replied to  Buzz of the Orient @2    one month ago

I believe that was Marfan's disease.  It was what Robert Wardlow (tallest man in the world decades ago) suffered from.

 
 
 
sandy-2021492
2.3.1  sandy-2021492  replied to  Paula Bartholomew @2.3    one month ago

In Andre's case, it was acromegaly.  People with Marfan's tend to be tall, but thin, and usually lack strength.  Their bodies don't synthesize collagen correctly. 

 
 
 
Paula Bartholomew
2.3.2  Paula Bartholomew  replied to  sandy-2021492 @2.3.1    one month ago

Ty for the clarification.

 
 
 
sandy-2021492
2.3.3  sandy-2021492  replied to  Paula Bartholomew @2.3.2    one month ago

I have a friend from school who has Marfan's.  He's a beanpole.  Tall, and clothes just hang off of him.  When we were growing up, all the basketball coaches wanted him, until they saw him run and shoot - he really has very little muscle strength.

 
 
 
Perrie Halpern R.A.
2.4  seeder  Perrie Halpern R.A.  replied to  Buzz of the Orient @2    one month ago

Buzz,

The link has more information than the video does and since it is not on youtube, I don't know why you can't open the link.

 
 
 
Buzz of the Orient
2.4.1  Buzz of the Orient  replied to  Perrie Halpern R.A. @2.4    one month ago

I guess nbcnews is blocked here.

 
 
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