25 Years = We Finally got a Diagnosis

[Deleted]

My DS25 is at the National LPA Convention. 

He finally saw a geneticist that knows about dwarfs and now has a definitive diagnosis of hypochondroplasia. We assumed he was hypo, but now we can use that on the medical stuff.

Not surprisingly, one of the side effects of the mutation is the structural brain abnormality he has and it's known to cause- focal epilepsy. 

Ironically, he had a seizure while seeing the geneticist. She said he's not the only hypo who's been diagnosed as functional neurological disorder but that while the cause isn't understood it's likely genetic not psychiatric... (DUH!)

She said as long as he doesn't lose consciousness or pee himself during a seizure, then his diagnosis is the best medical science can give him for now.

Yesterday he called me all excited because he hung out with Zach Roloff from Little People Big World. He's sort of been his hero for a long time and they sat around and talked about dwarf medical problems. 

Now he's trying to sneak in to see the dwarf neurosurgeon before he has to catch his bus back home.

So glad he went. It took 25 years, but he now has an actual diagnosis.  lol 

[Tennesseer]

Good to hear there is a name for it.

[NoNamePerson]

Jul 1, 2019 16:41:33 GMT -5 Tennesseer said:

Good to hear there is a name for it.

 and glad he got to sit and talk with a "hero" of his!!

[busymom]

Sounds like a big win!  He now has a real diagnosis AND he's meeting someone he's admired for awhile.



The big question is:  will his primary doctor believe the geneticist?  Hope he has smoother sailing from now on.  

[weltschmerz]

That's great news, Rockhounder!

[Opti]

I hope the diagnosis helps. 

[The Walk of the Penguin Mich]

Is there any kind of test that they can do to verify this?  That will go a long way to getting him proper help.

[Deleted]

Jul 1, 2019 18:05:17 GMT -5 busymom said:

Sounds like a big win!  He now has a real diagnosis AND he's meeting someone he's admired for awhile.



The big question is:  will his primary doctor believe the geneticist?  Hope he has smoother sailing from now on.  





This Stupid box thing....

He will have a new primary before long so we shall see. I did send off a message to the neuro.

He also saw a neurosurgeon today who knows a lot about dwarfism and he suggested he try antidepressants to see if it stops the seizures. They appear to have some effect. He suggested he find a psychiatrist to see, so he will once he has Blue Cross. 

[Deleted]

Jul 1, 2019 19:41:39 GMT -5 The Walk of the Penguin Mich said:

Is there any kind of test that they can do to verify this?  That will go a long way to getting him proper help.

The test is full sequencing his DNA. It's expensive. He needs the full deal, not just the 23 and Me type sequencing.

Many of the gene mutations are now known. But, it's mostly an academic diagnosis because even when they know the gene mutations, they don't have any way to do anything about them at this point and they are rare enough there are few papers on them.

There are some labs who offer varying degrees of free testing for rare illnesses. I'll do a bit of digging and perhaps ask the geneticist he saw about ordering it. 

I remind him regularly that he's young and science is advancing fast enough they could easily stop the seizures at some point and improve his quality of life. 

[countrygirl2]

I hope he can get help, I kept hoping for DD, but for younger people they likely can.

[Deleted]

Jul 3, 2019 19:42:09 GMT -5 countrygirl2 said:

I hope he can get help, I kept hoping for DD, but for younger people they likely can.

The neurosurgeon suggested antidepressants or anti-anxiety medication might calm down the place in his brain that is believed to be overactive and causing the seizures. 

As soon as he has BCBS coverage, he's going to make an appt with a psychiatrist and inquire.

There is research out there that says hypochondroplasia damages the formation of the hippocampus and amygdala. There's also research these areas of the brain seem to cause non-epileptic seizures but they don't understand why. 

Hopefully, some day they will figure out how to stop the seizures. 

He's currently working to fix his broken vehicle and then find a better job.

[countrygirl2]

DD takes respiradone and trazadone and yes it helps her.