Neurofibromatosis?

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LostInSpace

Neurofibromatosis?

Postby LostInSpace » Sat Mar 08, 2008 4:41 pm

Hi, Alin. I was just looking through your website, and I noticed what appeared to be "cafe au lait" spots on your abdomen in some of the G-tube hospitalization pictures. I was wondering, do you have neurofibromatosis? I didn't remember seeing it under your diagnoses, but I was curious (of course, maybe they were just spots of iodine or something). I'm a student speech therapist, and one of the kids I work with has NF type 1. Additionally, I know that NF can be associated with autism, so I thought it would fit.

Also, since I'm a speech therapist currently doing an internship in a hospital, a lot of my daily work involves swallowing. Seeing that you had gotten a G-tube, I was wondering what the primary motivation for it was. Was your difficulty with eating making it tough to meet your nutritional requirements? Or were you actually aspirating liquids/food into your lungs? Did you have a videofluoroscopic evaluation (basically a moving x-ray of your swallow)? If so, what did it reveal? I do a lot of video swallows, and I still find them incredibly fascinating, so if you've had one, I'd love to hear about it. If you are aspirating while swallowing, that may have contributed to your respiratory problems, so it's a good thing you now have a feeding tube. Unfortunately, part of my job is determining when someone is no longer swallowing safely, and when alternate means of nutrition such as a G-tube need to be considered. I hope your dysphagia is not such that you are no longer allowed to eat. If they recommend that you be NPO (no oral intake), be sure to ask if they have considered all consistencies. Oftentimes a doctor or radiologist make a patient NPO when they are aspirating thin liquids, without evaluating their ability to safely consume other consistencies.

Good luck with your new feeding tube! I always check your site periodically to see how you are getting on (I know you from WrongPlanet), although I've never posted before. I especially like looking at the photos- one thing I'm always amazed by is how happy you always look. You're generally smiling in all your pictures. Because I work with a lot of people with strokes/head injuries/degenerative diseases, I see a lot of people who don't have your positive outlook on life. More than one person has told me that they want to die. I'm glad that you don't seem to feel this way, and that you've been able to get the technology/accommodations you need in order to allow you maximum mobility and safety. I'm glad your powerchair came, by the way! What a improvement in quality of life that will afford you! Hopefully you will even be able to go back to school at some point.

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Re: Neurofibromatosis?

Postby alin0s » Sun Mar 09, 2008 12:02 pm

I have not been diagnosed with neurofibromatosis, however I am beginning to suspect it and next time we see my neurologist in the next month or so I will bring it up to him. They definitely are not just spots of iodine or something as they are deeper within the skin layers than that.

I had to get the G-Tube for several reasons, the main reason being the fact that I aspirate many different consistencies. I also have severe volume limitations and also have a very low desire for food due to how difficult eating is, which made it impossible to get more than 1500 calories per day. I need about 3000 with the disease I have as most to all neurological diseases increase the caloric need due to the abnormal muscle usage. My disease if you compare it to anything is like a progressive quadriplegic spastic Cerebral Palsy. I had a videofluoroscopy done which showed penetration on most to all consistencies and on all thicker consistencies it would wind up getting caught in my vocal cords and then aspirating. thin clear liquids are what I am cleared for. so my feeding code is GT/PO-CL (G-Tube/By Mouth-Clear Liquids)

I have respiratory problems, including a very weak cough which was also a "put it over the fence" thing for the G-Tube because if I were to get aspiration pneumonia I would more than likely die due to my disease.

Oddly, I am the reverse, I have less problems with thin liquids and more with thicker consistencies.

I am definitely not the depressed kind when it comes to my disease. I do not want to die, death sucks, what do you get out of that, eternal black darkness, no thanks!
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LostInSpace

Re: Neurofibromatosis?

Postby LostInSpace » Sun Mar 09, 2008 5:35 pm

Hi, Alin. Thanks for responding! Definitely ask your neurologist about neurofibromatosis. Apparently kyphosis is often another common symptom, and I know you have that as well.

It's interesting that you have difficulty with thicker liquids- since that's the reverse of the most common presentation of dysphagia. I would guess that your difficulty with thicker consistencies is due to tongue base and pharyngeal wall weakness. Since you can swallow thin liquids safely, I would guess that you must have adequate airway protection (epiglottic inversion, laryngeal elevation, closure of the vocal folds, etc.) during your swallow. Although if you're getting penetration on all consistencies, you might be starting to lose your airway protection, unless you're having difficulty with the initiation of your swallow- which leads to aspiration before the swallow (liquid drains down into your larynx before the swallow is initiated and airway protection has begun). But anyway, poor tongue base retraction and weak muscles in the pharyngeal wall lead to residue in your throat, which enters your airway sometime after your swallow, when your airway is no longer protected.

Malfunctioning of the cricopharyngeus muscle (also known as the upper esophageal sphincter, if that term is more familiar) can also cause problems with thicker liquids because the thicker consistencies are not able to drain properly, and you get a lot of residue on top of the UES which enters the airway after the swallow. Anyway, aspiration after the swallow due to excessive residue would be my best guess without seeing the video. Let me know if any of that sounds accurate. Seriously, swallowing videos are probably my favorite part of my job. It's the geek in me- I can't get over how cool it is to see x-rays of someone's swallow. Were you able to watch the video?

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Re: Neurofibromatosis?

Postby alin0s » Sun Mar 09, 2008 5:45 pm

Is the inability to hold yourself up another symptom along with scoliosis and rotoscoliosis?

Thin liquids still aspirate with me, just not constantly like thicker liquids. I am constantly getting liquids of both consistencies stuck in my vocal cords which produces abnormal speech for a while. Residue is a huge problem with me. I am starting to have a drool/saliva problem since I put out so much of it, so I tend to aspirate my own saliva sometimes. I was able to see the video on the plasma screen during the examination and in the review room afterwards, I would love to be one of those technicians, that would definitely be a fun job.

I wish I could get the video on a DVD.
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LostInSpace

Re: Neurofibromatosis?

Postby LostInSpace » Sat Mar 15, 2008 9:45 am

I would guess that it would be, given the musculoskeletal weakness and atrophy that people can develop. Epilepsy can also be a complication. Symptoms also often change or accelerate around puberty. So yeah, definitely ask your neurologist about it. If you have NF type 1, maybe that would even account for a lot of your current symptoms.

You could ask the hospital for a copy. At the hospital I was at, they recorded the videos onto DVD. They might make a copy for you if you ask. The videos *are* pretty cool.

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alin0s
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Re: Neurofibromatosis?

Postby alin0s » Sat Mar 15, 2008 11:32 am

LostInSpace wrote:I would guess that it would be, given the musculoskeletal weakness and atrophy that people can develop. Epilepsy can also be a complication. Symptoms also often change or accelerate around puberty. So yeah, definitely ask your neurologist about it. If you have NF type 1, maybe that would even account for a lot of your current symptoms.

You could ask the hospital for a copy. At the hospital I was at, they recorded the videos onto DVD. They might make a copy for you if you ask. The videos *are* pretty cool.


What are the symptoms of NF type 1?
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LostInSpace

Re: Neurofibromatosis?

Postby LostInSpace » Sat Mar 15, 2008 12:04 pm

Well, there are a lot of possible symptoms, including benign tumors (along nerves), skin growths (these 2 things are what the disease is mainly characterized by, but I read some case reports on line where people didn't have dermatological symptoms), optic nerve tumors which cause vision problems, etc. But the actual range of expression is pretty wide, and the symptoms that you have which would be compatible with NF type 1 (type 2 is associated with auditory nerve tumors rather than the more systemic ones you get with type 1) are:

autism (autism, attention problems, and learning problems are often associated with NF)
cafe au lait spots (if those spots are cafe au lait spots, they are the hallmark signs used for diagnosis)
worsening of symptoms around adolescence
neuromuscular weakness/muscle atrophy- problems arise with the peripheral nervous system
seizures
scoliosis/kyphosis

That's all I can think of right now. I'll add more later if I remember anything else.
The only thing though, is that I'm sure you've had a lot of MRIs, and I think the MRI would show any tumor growth (you get bright spots on the MRI). But ask your neurologist about it anyway.

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Re: Neurofibromatosis?

Postby alin0s » Sat Mar 15, 2008 12:22 pm

I will definitely ask my neurologist. I was pretty normal until two years ago, I was walking, able to hold myself up, no spinal deformities, perfect swallow control, no spasticity, I always was never able to run and had an unusual gait due to some Cerebral Palsy. My progressive disorder is comparable to a progressive quadriplegic spastic mixed tone cerebral palsy according to the neurologist. Would the peripheral nervous system problems show up on an EMG? I had an EMG when I was in the hospital for the G-Tube insertion which came back with reduced MUPs (Motor Unit Potential) and CNS (Central Nervous System) spasticity, which was not there 2 years ago. All MRI's show normal aside from the severe spinal deformities. 24 hour EEGs show seizures based on epileptogenic spike activity not triggered by light patterns.

Hence why my neurologist compares it to a progressive quadriplegic spastic mixed tone cerebral palsy.
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Disabilities: autism tendencies, board-line M.R . neurofibromatosis 1,mild macrophaly, emotional disturbance, no not a drop of NT :)

Re: Neurofibromatosis?

Postby MONIQUEIJ » Sun Jul 25, 2010 11:47 pm

me i have nf 1, it's very mild and all i have are the cafe spots. a few learning problems.
I found the link for this on wp, and decided to join the fun

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alin0s
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Re: Neurofibromatosis?

Postby alin0s » Sun Jul 25, 2010 11:50 pm

welcome to a forum that has a place for NF people :D
check out my website at http://www.alinssite.info


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