Cameron's Boston Visit

[momof4in04]

Well it has been about 2 months now that we started going to Boston. Cam has seen more doctors than I can count and we still have no answer to what is causing the pain in his tail bone area and legs. The NF docs felt that the tumors along his spine were not the cause of his pain yet they decided that maybe he had some extremely rare other neurological disorder called stiff person syndrome because he is very rigid and the pain in his legs. They did a blood test which came back normal except for some elevated non-specific thymus antibody so they referred us to the neuromuscular dept and wanted another MRI except this one was of his chest to look for a thymoma. Cam endured 2 hours of this awful MRI only to find out that his thymus if fine but buy the way he has a heart anomaly. When we met with the neuromuscular docs they ordered much more blood tests looking for DiGeorge Syndrome which all came back normal. Now they want to do an EMG which is putting small needles into his muscles and shocking them to look for the nerve responses because they want to rule out any muscular disorder that they might be missing but they are thinking that it may very well be the fibromas. And now we have to see a cardiologist for an echo to make sure that his heart is functioning fine. What an emotional rollercoaster my family has been on. Cam is definitely feeling the stress because he has lost weight. He is 10 years old and only weighs 58lbs. So we are trying to address this as well. I can't believe the best doctors in the country are as baffled as they are. We go in March for the EMG. He is also starting pool therapy to try to gain some strength in his hip flexors and help with his spinal rigidity. We have also started bringing him to a Chiropractor to help with his overall spinal health. So many things for a child to endure.

[CindyLouWho]

Hi there,

I've no idea what NF doctor you're seeing but if it isn't at one of the better known NF clinics I would recommend that you request a transfer. If it is at one of the better known clinics then I would strongly urge you to get a second opinion from another NF expert. I'm not a doctor so this is just my take on it, but there many irregularities in what you are describing that I personally find more than a little concerning.

First and foremost spinal tumors are a frequent cause of pain in NF as they tend to compress spinal nerve roots. Not sure why your doctors don't feel that is a possibility in your son's case or why they were initially so quick to rule out the tumors as the problem. Perhaps they just aren't seeing anything significant on the images?

Many NF patients live with chronic pain due to spinal tumors which can be quite disabling and which can have a significant impact on quality of life. It's an unfortunate fact of NF that when it comes to tumors "benign" does not automatically translate to "harmless". Surgery is sometimes a good option. Chronic pain isn't as common in young children but its not unheard of by any means. Less commonly, severe pain may be an indicator of malignancy. In some cases, spinal tumors may lead to other neurological symptoms including foot drop. Spinal abnormalities such as scoliosis or tethered spinal cord can also be contributing factors. Secondly, there is evidence to suggest that NF patients may have increased sensitivity to pain. For these reasons I'm more than a little surprised that they are now looking for other totally unrelated disorders on totally different chromosomes. Seems like a leap to me? And it sounds like your little guy has been put through a lot just for them to end up back at square one.

http://jn.physiology.org/content/94/6/3 ... ;94/6/3670

http://www.sciencedirect.com/science/ar ... 2211014424

http://snri.iusm.iu.edu/people/primary- ... -m-d-ph-d/

Personally---and hey maybe this is just me---I would be very cautious about having a series of needles stuck into any NF child since there has been some speculation that damage and trauma to fibroblasts may be a contributor to NF tumors. Not saying we know all the facts, just saying that it may be something to consider.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2854506/

http://archderm.ama-assn.org/cgi/reprin ... 0/1207.pdf

I would also suggest that the utmost of caution be used when seeking help from a chiropractor. While some people do find them helpful you are enlisting the help of someone who probably doesn't know anything about NF. With tumors on the spine an adjustment gone bad could potentially have serious, irreversible consequences.

Heart issues including pulmonary stenosis, coarctation of the aorta and others are seen with more frequency in NF, possibly occurring twice as much as what we would see in the non NF population.

http://www.ncbi.nlm.nih.gov/pubmed/12040353

Anyway, just throwing all this out there for you to research further. I hope your son gets some much needed relief and that you get some positive reassurances soon.

All the best,

Cindy

[momof4in04]

Cindy,

Thank you so much for your reply. You seem very well informed and I certainly appreciate the links you provided. I have already decided to cancel the EMG test because my gut is telling me that it is NF related. When we first met with the docs which is at the NF clinic at Childrens Hospital in Boston I asked if we should also have an MRI of his sacrum area and legs and they said that maybe later but they wanted to pursue this other avenue first. This seemed to spiral out of control because they couldn't figure out what was wrong it is almost as though they couldn't admit that they don't know. The MRI of his spine did show many tumors along his spine at the cervical nerve roots. The Dr felt that they were not large enough or in a place that would cause his pain. I am going to be calling them back on Monday to request an MRI of his lower body. They had also suggested a PET scan but when I spoke with them regarding the scan they said that they didn't feel that it was as high on the priority list because of his symptoms. I am also curious what your take on the Chiropractor is because my family has been seeing him for a very long time. Cam has been adjusted since he was a baby but just not as regularly as I think he should have. What do you mean by irreversible damage? Are you aware of anyone having problems because if you are I would appreciate what you know because I am only trying to give him the best chance at normal mobility.

Thanks again for your post. This discussion board has been very benefical to me. It truly is the only place where I feel I can find helpful information because it is from people who have been there. If anyone has more information to share I do really appreciate any and all posts whether you agree or disagree I want to know your ideas.

Thank you from Cam's mom.

[seesnow]

I would just mention that Cameron might be open to the idea of talking to a counselor with all he is facing at the moment. In trying to heal the physical, we sometimes forget how much they are dealing with mentally. Prayers continue for y'all!

Nice to see you Cindy - it's been a while! Hope all is well with you and yours!

[CindyLouWho]

To answer you question momof4, yes I have known patients over the years with spinal tumors to say that they felt that they were further hurt by chiropractic adjustment. Some NF doctors have told their patients with spinal tumors flat out not to have adjustments. If you search archives on this BB, or the NF Inc one, or if you ask the question as a separate topic you may bump into some of those same people .

On a personal note, we had briefly considered it for our daughter for what we thought were the beginnings of scoliosis some years back, but hearing other people`s accounts prevented us from pursuing it, especially since they don`t automatically do mris here and we don`t know if my daughter has any other spinal irregularities. Since then I have become friendly with someone in that line of work as well. Since some chiropractors seem to like x-rays and I feel very strongly against unnecessary radiation for NF children, this was another factor that came into play for us personally.

Unfortunately it is not an area that is well studied...there is minimal mention of it in the NF literature and the studies and minimal case studies put out by Chiropractors tend not to be very helpful. However, spinal manipulation in those with tumors is often contraindicated even in the non-NF population. All I am saying is that caution is warranted IMHO.

Both occlusive lesions and aneurysms of cerebral arteries have been described as associated with NF1 in occasional patients.

In the occlusive disease of cerebral arteries described by several authors (Tomsick et al. 1976, Taboada et al. 1979, Crawford et al. 1988), the angiographic findings have included occlusion of the supraclinoid internal carotid artery, the proximal anterior cerebral and middle cerebral arteries and, less commonly, the more distal branches of these arteries. Occlusion of the posterior cerebral artery has been reported, although involvement of the posterior circulation is rare. Basal teleangiectasiae producing a moyamoya appearance have been described to be associated with occlusions of the major intracranial vessels.

The occlusive disease of the cerebral arteries in NF has been found most often in children, in whom it has often been associated with cerebral infarction and has not been progressive. The occlusive lesions have been thought to be caused by intimal smooth muscle cell proliferation.

Intracranial aneurysms (Tomsick et al. 1976) and arteriovenous malformations and aneurysms of cervical arteries have been described in patients with NF1 (Deans et al. 1982, Westacott et al. 1988, Schiewinck & Piepgras 1991, Hoffman et al. 1998). These lesions usually manifest in the fifth or sixth decade of life, and they are more common in female than male patients. The vertebral arteries are most commonly affected.

The generalized mesenchymal dysplasia in NF1 may cause structural weakness of the arterial wall and predispose the patient to aneurysm formation. (Deans et al. 1982). Mechanical factors (chiropractic manipulation, etc.) have also been thought to play a role in the formation of vertebral aneurysms. The primary weakness of the arterial wall in NF1 could lead to the development of an arteriovenous fistula through rupture of a preexisting aneurysm or direct rupture of the artery into adjacent veins.

Also spinal manipulation is sometimes not recommended for people with bone density issues. Since NF kids are at risk for osteopenia that is also something to be aware of. Spinal compression fracture, NF tumors, tethered cord....there are so many things that could account for what you are describing and again, I would recommend that you get a second opinion.

That`s my take on things anyway. Hope your son is feeling better since your initial post.


Hey Seesnow, Nice to see you too. Things are well....I have a house full of teenagers now so never a dull moment...

Cindy

[CindyLouWho]

Spondylolisthesis is a rare disorder that is most often associated with a pathologic luxation of the vertebra because of erosions of the pedicles or pars from foraminal neurofibroma or dural ectasia.

Sorry just thought of this as another potential cause of hamstring stiffness and pain that can be associated with NF, just mentioning it as something to look into if they haven't had a recent look.

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002240/

[momof4in04]

How strange that you would mention spondylolisthesis. Myself and my husband both have this condition. We see our chiropractor for distraction and it works very well. I never would have thought that maybe Cam could have it as well. Everything we think of is about NF and it is hard sometimes to remember that he is like everyone else. Thank you for bringing this to my attention it is something I will definitely look into. I feel like I live in a bubble with all of the NF stuff because I am starting to think that all of his stiffness and pain may be very will unrelated to NF but we have been so focused on all of his tests that we forget to look at the obvious. We haven't spoken with Boston since we did the EMG which was also normal and that was on March 20th. Currently he is getting pool therapy and some counseling and I am trying to hold back on any more testing since they don't have any answers anyway. He is feeling better and the physical therapist has been using kinesio tape on his hamstrings which has greatly improved his pain. Based on the results of the taping, I am definitely thinking that it may not be NF related. But who knows we are just trying to take things one thing at a time and whatever is helping we are going with it. Thanks again for your input you certainly give good ideas.

Lorrie

[seesnow]

Pain in his hamstrings? Have you looked into a carnitine deficiency?

[momof4in04]

Yes they did test him for that deficiency and it was normal like all the other blood tests that they did. But thanks for asking.
Lorrie

[seesnow]

Glad it's normal!!