Moms With Schwannomatosis Tell Their Stories

Hello!  And welcome to a short blog-article on the subject of moms with Schwannomatosis!

Recently when we asked for feedback and experiences from moms who had battled Schwannomas - we noticed we also received comments from moms who had the condition of Schwannomatosis (This is a condition that pre-disposes a person to Multiple Schwannomas, sometimes clustered in a single limb, or sometimes throughout multiple nerve pathways in the body).

We send our sincerest thanks to the mom's who shared a bit of their stories in hopes of helping others.  Wishing you all a strong and pain free day!

Neil
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Here are the comments we received from mom's with Schwannomatosis:

First response: I actually found my first Schwannoma due to a pregnancy. It was discovered during an ultrasound. I ended up miscarrying and they sent me for an MRI. Long story short, after surgery, and biopsy I discovered it was a Schwannoma. This began a discovery of several more, another one removed in my foot.  I was diagnosed five years ago with Schwannomatosis . I have had two successful pregnancies since then. My first pregnancy I didn’t have any problems, but my second one I did. My son was a large baby and I think he put pressure on the one in my pelvic area. I couldn’t sit for long periods of times, and had trouble getting up. It would cause numbness in my legs. It was only the last two months of pregnancy, but it was hard. I still managed to work and work out, just had to move through the pain. I just had my son two months ago, and have my annual MRI to check the growth of the one in my pelvic area. My doctor said the type of Schwannomas I have though, pregnancy hasn’t been known to cause any major changes in the growth. Again, not a lot of research, but if made me feel better.  Like the other women said I do worry that I passed these along to my boys.  After my first son I really didn’t want another because of this fear.  I realized how much I wanted a family though and I couldn’t let the disease get the best of me.  In the future I would like to get testing done and have my boys tested, but for now just making them aware and being conscious of any pains they have. I mean I didn’t discover mine until I was 30.

Second Response:  I have Schwannomatosis & was scared that I would develop other tumors due to pregnancy hormones. I have, so far, only had two Schwannomas. One in my left calf muscle removed Feb. 2012 & one on the bottom/ middle of my right foot which was removed in Dec. 2016. 

So far I have not shown any signs of other tumors, and hope that remains the case.
I am fearful that I will pass Schwannomatosis to my child and future children, but I do not want a disease to fill my life.
When I got pregnant I had been off of any pain medicine for 9 months. I’m not sure I would have tried for biological children if I couldn’t have my tumors removed. My pain was very severe and I couldn’t imagine dealing with the pain without medication.

Also. I didn’t state this. I had my daughter July 2018. No tumors at that time just previous, ones that had been removed.

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How Long Before I feel better? - Views on Schwannomatosis

Hello everyone!  We have been doing the series in which we sought to understand how long recovery times are for people with various kinds of Schwannomas.  Though we can't ask the question in exactly the same light - I wanted to also include our friends with Schwannomatosis.  Schwannomatosis is the rare condition that predisposes a person to multiple Schwannomas in almost any part of the body.  It is understood to be a rare offshoot of the genetic condition of Neurofibromatosis - and it can lead a person to have multiple Schwannomas along almost any nerve pathway in the body, except the auditory nerves where Acoustic Neuromas arise.  And there is a known variant of Schwannomatosis called "Segmental Schwannomatosis" where people can have sometimes many multiple Schwannomas in one part of the body - in a leg, or a single area of the spine, for example.  Though life with Schwannomatosis presents challenges unique to the condition - and there is not often something such as 'getting over' it...we did want to include the question to our friends with the condition.  Here are there responses...Neil

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Answer 1

I was diagnosed with this this past February. They found a second schwanomma in my body in six months. I am still new with this whole experience. Right now I have continued about my daily life, but fearful of finding another one. I definitely panic more when I feel a pain often wondering if it is another one in my body I didn't know about. (The one in my foot I went with for years before really getting checked out because i thought it was just a cyst in my toe. I didn't realize it covered the whole bottom of my foot.) I was never one to panic before about aches or pains, now I do have to be more aware. I was in the process of trying to get life insurance and was denied the life insurance due to my schwanommas. They told me if I do not have another schwannoma for five years I can apply again. That was hard to hear.


Answer 2

I was diagnosed with Schwannomatosis one year ago along with two of my daughters. My son has recently been tested all clear. Still have four more children awaiting testing for the SMARCB1 mutation. My journey began over 5 years ago when I developed stabbing pains in my foot. I was given an operation to correct hallux rigidus in my big toe and was told that it would cure my pain. It didn't obviously! After years of foot x-rays, foot mri scans, spinal manipulation, epidural injection a doctor decided to send me for a spinal mri. The results came back with several small nodules/tumours in my lumbar spine! Only a few weeks later my then 18 year old daughter suddenly became unable to walk properly. She was taken to A&E where they did various reflex tests and a rectal examination and kept her overnight. In the morning she had an mri scan which revealed two thoracic tumours, 52mm and 18mm. She was moved to a nearby university hospital where they removed both tumours during a 7 hour operation. For days afterwards she couldn't move anything below the waist. She was desperately unhappy and is was so upsetting as her mother seeing her go through this. She eventually got up and about with a zimmer frame after two weeks but kept falling so was confined to bed with a catheter. She was moved to a specialist spinal injury hospital which frightened the hell out of her as there were mostly paraplegics there. After 5 days she discharged herself as she didn't fee she belonged there. She said she would get better more quickly at home where she was happiest. Which turned out to be the right move. She started university 3 months after the operation on crutches. She walked as much as she could and was down to one crutch after a few weeks. By January, 6 months, after the operation she was walking unaided. She continued to improve and two years later she says she is 92% her original health. She still has very slight foot drop but hardly noticeable. Myself, the surgeons won't operate unless my symptoms change affecting my legs or bladder/bowel function! Similarly my other daughter in London. I now have all my fingers and toes crossed that none other of my children are affected.

How Long Before I Feel Better After a Schwannoma in the Torso?

Hello again all!  This is the next in our series of blogs exploring the question of how long recovery takes...in this case recovery from a Schwannoma in the torso of the body.  The common Schwannomas of this sort include Retroperitoneal Schwannomas, Brachial Plexus Schwannoma, and a number of others.  We decided to put the question out somewhat loosely, attempting to explore what recovery was like for those with Schwannomas anywhere along the torso of the body (not including the spinal column - we did a string of blogs on those as well).  Here are the responses we received from the Schwannoma Survivors group and we hope they are useful to you! - Neil
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Answer 1

My first Schannoma was located on the nerves on T5-T7 ( I believe ), it was the size of an orange. That was in 1994. The surgery was quite extensive. The surgeon cut 9 inches below my scapula, split my latissimus dorsi muscle , expanded my rib cage, extracted a rib , collapsed my lung, then removed the tumor. It was summertime and if the room temperature was not set at 70 or lower, I would labor with my breathing and start hyperventilating. I did not gain complete range of motion , of my right arm ever, bit was about 90% 7/8 months later. I still get numbness across my right breast/chest area and tightness/pain in right shoulder, chest, and ribs after tennis, bowling, football, etc. I also feel random " jolts " shooting within that area.

January 28, 2015, I had a rate gastric schwannoma( grapefruit size), stemming from my esophagus attaching to my outer stomach wall.  
I am still waiting to feel "normal." The heat and humidity slow me down and I feel pressure in my upper abdomen. My spine often feels weak and pained. Funny, this second schwannoma was not too far from my 1st schwannoma.
My incision site still feels like it is " being pulled" and has pain. I was walking very briskly , about 2/3 miles , every other day, in May, but my body had other plans. So, I listen to my body. Walk 3 miles , but not AS briskly and I started using the Total Gym again.
I still suffer terribly with acid reflux and bowel movements ( sorry if that is too much ).
I'm going for genetic testing tomorrow. We ( my mom's side), we have breast cancer in the family. Grandmother and aunt died. Another aunt has been in remission for 15 years. Her daughter ( my cousin June), lost her 3 month battle with stage 4 triple negative breast cancer , on 12/18/2014. She was 50. My mom has been in remission since May; she is stage 4.
My mom, cousin June and June's sister( Karen) all tested positive for the same BRCA 2 mutation.
They are having their ovaries and other reproductive organs removed.
I have requested to be tested for Schwannomatosis, as well.  So, I know I am still recovering . And I know I need to be patient and positive . Let's see what a year post-op brings. 

Answer 2

To date no pain and I am on watch and wait. One year duration between MRI Scans. I can see the chest tumor - thus it is difficult to not focus on the fact that they exist and if growth continues - surgery.

Answer 3  (Brachial Plexus Schwannoma)

The recovery was really a breeze. I only had minimal pain the first few days after the surgery. They told me not to lift heavy objects for several weeks, but eventually I was able to lift pretty much everything I could before the surgery.  More of an issue in recent days is that I’m not able to hold my 14-month-old daughter for very long. This week I had to take her to the doctor and didn’t want to put her down where she could get germy. I could tell my neck was beginning to hurt so I asked a family member to hold her some of the time. That helped a lot but for the next few days I couldn’t hold her with my right arm for very long at all. It isn’t quite the same feeling as a pulled muscle but I guess it’s similar. It’s a very dull, deep ache along the nerve where the tumor had been attached. But I’m more than happy to deal with this discomfort as long as the schwannoma is gone for good.

Answer 4  (Retroperitoneal Schwannoma)

It was difficult to walk and move about for a few weeks and having a bath was extremely difficult as my leg felt quite numb and I had a lot of abdominal pain.   However, after about five weeks the abdominal pain was very intense and disabling.  To go out I had to be in a wheelchair as I just couldn't walk for longer than a few minutes.  On Christmas Day I was in so much pain I couldn't even walk to the next room, my two sons had to carry me!  I saw my GP and he said he would admit me to hospital.  I did not want this so I had yet another scan which proved to be ok.  I was referred back to the Surgeon and he said the pain is more than likely to be adhesions/chronic scar tissue. He told me given the nature of the surgery I could realistically expect it to be up to two years before I really started to feel better.  He then referred me to the Pain Clinic at The Royal Marsden where they altered my pain relief which helped.  It was not until about April/May time that the pain started to subside and walking became much easier and I felt I was getting back to normality. As each day passed I increased my activity to a comfortable level.
I feel I have made a positive recovery, although a very slow process.  I still have the same symptoms in my leg although they are no where near as bad as they were before surgery.  I found the recovery during the first four months to be quite depressing as I was so frustrated at not being able to walk and do everyday things such as driving (I was told prior to surgery I would not be able to drive for three months), lifting the laundry and basic things and being able to go out when I wanted.  I had to rely on being taken out in the wheelchair but I use to look forward to those trips out.  I think you have to be positive and literally take one day at a time,  and don't think about tomorrow, that's what helped me psychologically. 
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A New Q and A with Dr Christopher Moertel, Pediatric Neuro-oncologist at University of Minnesota Masonic Children's Hospital

Hello everyone!  Today I'm pleased to offer you a new discussion in our physician Q and A series - this one a five question Q and A with Dr Christopher Moertel, from University of Minnesota Masonic Children's Hospital.  A group member recommended Dr Moertel as he was a specialist in the medical management in conditions, including treatment for Schwannomas and Schwannomatosis.  He kindly agreed to come on board and do a Q and A with us, to answer a set of questions that I had had tabled for quite some time - some nagging issues and matters that needed more attention and physician insight.  We thank Dr Moertel for taking his time to assist us, and we hope you find this discussion useful! - Neil
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http://www.uofmchildrenshospital.org/Providers/Bio/D_121128

1)  Many patients with Schwannomatosis are very interested to know, is progress being made in the treatment and understanding of Schwannomatosis?  If you are aware of particular strategies, medications, or practices that are increasing the quality of life for those with Schwannomatosis, I'm sure our group members with the condition would be very interested to know.

There is significant research underway regarding schwannomatosis and Neurofibromatosis, type 2. The Children’s Tumor Foundation (http://www.ctf.org/Research/Synodos.html) has initiated an NF2 “Synodos” group that is focusing on effective treatment . According to CTF, “This group of talented researchers come from varying backgrounds – from basic science, to translational science, to clinicians – and have joined together to break down barriers, proactively leverage collaboration and shared knowledge, and work together to develop effective new treatments that will end NF2.”

In addition, there is a great deal of cross-fertilization among researchers studying the schwann cell disorders, including NF1, NF2 and schwannomatosis. We have elucidated some of the genes responsible for schwannomatosis. This is the start of a process that will eventually lead to the discovery of drugs that will effectively target these genes or their products. This era of “targeted therapies” is a very exciting time in medicine – people and families with schwannomatosis and related conditions should be very excited about what’s coming down the road. It is also an important time for effective advocacy – letting your legislators know about how important this research is to you, telling your human stories, will preserve or increase funding for important research regarding schwannomatosis.

2)  A group member with Schwannomatosis remarked recently that she had symptoms such as left side headaches, facial pain, and sensations like being stabbed with a knife above the eyebrows and on the neck.  These symptoms predominated on the left side, and to her surprise doctors found a Schwannoma at C1, C2 on the right side.  The tumor was removed and, surprisingly, her pain and symptoms were gone.  In your medical experience, is it common for referred pain or nerve symptoms to be present this way?  Her own surgeon found this quite unusual...

It is an interesting phenomenon that we see in NF2 and schwannomatosis.  As a result of nerve damage from schwannomas, some signals, such as pain, will be re-routed. We even have one young lady who sweats around her ear every time she eats starchy food! This phenomenon, known as Frey’s Syndrome is a result of the nerves stimulating salivation being rerouted to the skin around her ear.

3)  I think many people in our group would be interested to know, how common is it that you find that people need medication after having had even just a single schwannoma, even when the tumor was successfully removed?  For many of us, the pain, pressure, and post op nerve symptoms can be quite significant - and for some this persists almost indefinitely.  People express dismay at still needing pain relief.  Do you find that this situation is relatively common or uncommon?

This situation is extremely common. If a schwannoma is removed because of pain, the pain may frequently persist for months after surgery. We also know that schwannomas may grow at points of nerve injury because of the basic genetic defect in schwann cell growth. Attention to means of preventing tumor growth after nerve injury and effective treatment of post-operative pain is an intense area of research.  Surgeons dealing with patients with schwannomatosis should be extremely knowledgeable about the condition – an uncomfortable surgeon makes for an uncomfortable patient. Likewise, both patient and surgeon should have reasonable expectations for surgical outcomes. Don’t be shy about asking for second opinions – it’s your body and your life.

4)  We would be very interested to know if many of your patients have had radio surgical treatments such as Cyber Knife - and if you find that it is proving successful in the cases you have seen?

I generally discourage radiotherapy for my patients unless it is a last resort. Radiation can cause cancer and can complicate schwannomas – especially in young people (under 60).  Cyber Knife is another word for gamma knife – both are “brand name” forms of stereotactic radiotherapy. Tomotherapy, CMRT and proton beam therapy are other focused forms of radiotherapy.

5)  As you might expect, we have had group members who have suffered extreme facial paralysis as a result of surgeries for schwannomas - commonly experienced after acoustic neuroma surgery.  Do you find that there are particular strategies for regaining and strengthening facial abilities for people who exhibit these symptoms?  What are the medical management strategies that work best for those who have these kinds of facial paralysis?

Once facial paralysis occurs, it rarely recovers fully. Some patients get their facial nerve (the culprit) stretched during surgery and the post-operative facial paresis usually recovers fully. However, if the nerve is cut or sacrificed during surgery, recovery will not happen. The surgical statistics are pretty clear for patients undergoing surgery for vestibular/acoustic schwannoma regarding those who are at higher risk for facial nerve injury based on tumor size and pre-operative nerve function. The surgeon doing the procedure should be experienced and should be able to give you his personal statistics so that you can judge what risk you are exposing yourself to. I make sure my patients go to teams of neurotologists and neurosurgeons who are used to working together and have lots of experience. I am blessed to have great teams at my institution who provide patients with very clear evidence of outcomes. We also have a clear definition of who would benefit most from medical therapy, such as bevacizumab (Avastin) – and can offer other hearing preservation technologies such as cochlear implants or brain stem implants.

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Disclaimer: Dr. Moertel and University of Minnesota Masonic Children's Hospital  assume no liability whatsoever for the comments or advice offered in the content of this blog.  Dr. Moertel has offered his advice generally on the issues relating to treatment of Schwannomas - however Dr Moertel and the Schwannoma Survivors & Schwannoma Fighters group always insist that a person should make all major medical decisions in consultation with one's own physician.

Schwannoma Case Study #4, Another Case Study of a Person Confirmed with Schwannomatosis

Welcome to our fourth case study in our Schwannoma case study series.  This one features a female confirmed to have Schwannomatosis.  She wishes to remain anonymous - but we want to thank her very much for her contribution and for sharing her story in the hopes that it helps others.  The case studies featuring those with Schwannomatosis are particularly hard stories - as they often deal with multiple tumors and protracted struggles.  However we applaud the bravery of our friends with Schwannomatosis who have written their story for others to read.  We hope you find it informative - Neil
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1)  How old were you at the time of your diagnosis?

I was 23 when my first schwannoma was removed.  Actual diagnosis of schwannomatosis came around 1994 when I was 28.  My neurologist at Cleveland Clinic had referred me to Massachusetts General in Boston who was doing a study on schwannomatosis at the time.
At first I was diagnosed with NF1, but I did meet all the criteria.

2)  Do you have any history of Schwannomas in your family?

My father has schwannomatosis.  He has had multiple schwannomas removed.  His first was in 1972.  It was removed from under his arm, and caused permanent nerve damage to 3 of his fingers.
In 1983 he had 2 surgeries to remove schwannomas from the spinal column in the Lumbar and Cervical area.

3)  Where was your Schwannoma (or schwannomas) located?  And what were the symptoms that lead to your diagnosis?

Age 23 – Scwhannoma detected on back wall of abdomen during a yearly gynecological exam.  At this time there were no other schwannomas detected on a follow-up MRI scan.
Age 28 – MRI’s revealed intradural extradedullary (arising inside the dura but outside the actual substance of the spinal cord) tumors at the L3-4 and at the T12.  Also 1 tumor arising from the thoracic spinal column referred to as a dumbbell schwannoma.  Decision made at the time to monitor tumors, as they were not large, and non-symptomatic.
Age 44 – MRI revealed 3 new intadural extradellary tumors at the L1-L3 L4 location.  Also multiple abdominal tumors involving the iliopsoas groove, the obturator nerve, the obturator chain, the erector spinae muscle, the cauda equine and the psoas muscle.
Also, I have 3 tumors in the neck.  One is about 5 cm, the other 2 are small.  They are not in the spinal column, you can actually see them under the skin on my neck.  We are monitoring them at this time, EMG and nerve conduction study show that the arm and hand are ok.  They don’t hurt as severe as other tumors, they kind of ache. I think it is because they have room to grow.  If they get bumped it feels like hitting your funny bone times ten.
My huge issue with these current tumors is not knowing what tumor is causing what pain.  I have lower back pain, hip pain, thigh pain and of course the groin pain.  Luckily, I do not have any neurological deficits at this time. The doctors are not sure what tumor could be causing what pain either.  One of the suspect abdominal tumors would not be easy to remove.

  

4)   Could you describe, in whatever detail possible, what kind of surgical treatment was performed on your Schwannoma, and if you would consider it successful? (Or describe what you may know about the surgery that may yet be performed, if you haven't been operated on yet)

1989:  Abdominal surgery (bikini cut) to remove egg size schwannoma on back wall of abdomen.  It was not symptomatic, but doctors believed it was ovarian cancer due to the location of the tumor. I remember signing the release giving them permission to remove the ovary if necessary. During the ultrasound the tumor lined up perfectly with the ovary.  The surgery was successful, however the success may in part be due to the fact that I was so obnoxious.  A gynecologist was scheduled to do the surgery, and my Dad and I kept insisting it should be a neurosurgeon.  Even though this was my first tumor, we both had a “feeling” this was a schwannoma.  They finally relented, and a neurosurgeon assisted in the surgery.  It turned out that the tumor was not in the reproductive system, but on the back wall of the abdomen, and was in fact a schwannoma.  There are many critical nerves in that area, so I truly believe that having the neurosurgeon present quite possibly saved a lot of nerve function.  Recovery from abdominal surgery is about 8 weeks.
*** One side effect from the surgery – some 20 years later – I have been having severe pain near the incision on one side only.  Pain clinic doctors believe it may be that the scar tissue has grown and trapped the illioinguinal nerve.  I take Neurontin and tramadol daily for the pain, and have tried nerve blocks and RFA.  I have pretty good control of the pain from the meds, but they do make me tired. 
1994:  Small cherry sized tumor removed from the surface area.  Seat belt would rub it when driving.  Performed with a local, it was really just a minor procedure.
2000:  L3-4 Tumor and T12 Tumor – both Intradural extramedullary were removed using laminectomy.  The neurosurgeon used one incision to reach both tumors, about 10 inch long incision. I spent 2 days in hospital.  I could have gone home earlier, but I had a spinal headache, and my drive home was an hour and a half.  Recovery was about 6 weeks, and was a much easier surgery than my abdominal surgery.  I would consider it a successful surgery, as no deficits resulted from the surgery.  I had made the decision to have them removed even though they were not symptomatic, because they had increased in size, and I wanted to get pregnant with a second child.  Which I did at about 4 weeks post op.
2003: T12 dumbbell tumor removed.   Tumor caused me quite a bit of pain.  Elastic in bras needed to be cut so no pressure was put on my rib cage, and anything tight around the waist caused the tumor to act up.  It kept me up at night quite a lot. Neurosurgeon went in through the rib cage in order to remove the tumor.  It was necessary to remove a piece of one of my ribs.  Surgery went well, I was home in 2 days.  The pain was not immediately relieved.  I walked around holding my shirt away from my skin for about 4 weeks, due to the skin being extremely sensitive and painful.  After about 4 weeks, the pain subsided, and the surgery was a huge success.  The area around the incision always feels like a bruise, and I have just started to have some pains similar to when I had the tumor, but nothing as severe as before yet.

5)   Having gone through the experience, what do you think are the most critical questions for someone to ask their doctor about surgery and treatment of this kind of schwannoma

I am so lucky, because I have a fabulous neurosurgeon, Dr. Kalfas, at the Cleveland Clinic.  I have my annual MRI scans, and he reviews them with me.  Once we go over them, he will say, “OK, you know the drill, if the pain becomes too much, or you develop any new symptoms, call us up and we will schedule a surgery”.  I never have any issues with communication problems with my surgeon.
I will say this.  When I called to schedule my yearly appointment with my neurosurgeon his office told me that he does not operate on the abdomen, only the spine.  So I had an unnecessary appointment with a general surgeon, who told me he would not touch my tumors.  Consequently Dr. Kalfas, my neurosurgeon told me he would operate on any of my schwannomas.  And, if need be, he would have another specialist assist.  For example, if I had the tumors in my neck removed, Dr. Kalfas would remove them, but he would have a vascular surgeon assist.
Dealing with my schwannomas feels like a tight rope walk most of the time.  I am the one left making the decision.  Should I have my spinal tumors removed now before they grow larger and while I am still young and fairly healthy (even though they are not causing any deficit).  Because they could stay small for a very long time.  Or, do I wait for a symptom, ie, bladder, bowel, trouble walking?  And then the surgery could be more complicated.  These are very critical questions, but they are questions I end up having to ask myself.  The doctor just cannot answer them for me.  He does his best to counsel and answer what he can, but these tumors are just not cut an dry.


6)   Can you describe what the recovery process was like for you – if you feel you  have made a positive recovery…and what things you have done that have been of most help to you?  (Also, you are free to describe what doctors tell you to expect from your recovery if you haven't been in surgery yet)

 My recoveries from my surgeries were fairly easy.  I believe I am very fortunate that my Dad paved the way for me.  It was not hard for me to receive a diagnosis of schwannomatosis.  Once I had the initial tumor removed, and with familial history, it was really a no brainer.  Early detection and early removal of the tumors (if necessary) makes recovery much easier.

7)  Are you able to do all or most the things you did before? (Also feel free to describe your abilities even if you are still living with the tumor or tumors)

Yes, I can do most everything I did before.  I used to run a bit, and now I don’t because of thigh, hip and knee pain.  Again, I am not sure if my issues are tumor related or not.   I cannot do any core/abdominal exercises, because it angers the dreaded illionguinal nerve.  It is more of a pain prevention measure.  My body is fully capable of doing the abdominal exercises.

Schwannoma Case Study # 3, Sean Anderson Tells us About his Fight With Schwannomatosis

Welcome to Schwannoma Case Study # 3, this one featuring a friend of the Schwannoma Survivors page Mr. Sean Anderson.  Sean has been kind enough to take a bit of his time to describe his fight with Schwannomatosis, the condition that results in multiple Schwannomas in a person's body.  Though the large majority of those who have Schwannomas have single tumors that are one off occurrences - people who are diagnosed with Schwannomatosis are pre-disposed to having multiple tumors at once in various nerve pathways almost anywhere in the body.  We want to thank Sean for taking his time to describe his condition.  He has had a hard struggle - but he has kindly offered to write a bit about it in the hopes that his story helps others who are living with Schwannomatosis. - Neil
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1)  How old were you at the time of your diagnosis?

It was March 2011, I was 36 years old. My diagnosis was given to me after a biopsy. I had a "walnut" size growth surgically removed from the nerve sheath of my spinal cord, in a lower lumbar vertebra. There was a fair amount of certainty of Schwannomatosis from MRIs, but the doctors, radiologist, and neurosurgeons would only speculate. It was only after getting in there to really see what was happening, and the biopsy, that I was officially diagnosed.

2)  Do you have any history of Schwannomas in your family?

Nothing official, however, it is worth mentioning that my mother was having weird pain and numbness in her finger from a lump growing in one of her knuckles. She was 50, and it was 1999. It was surgically removed. The surgeons, and doctors were baffled, It was biopsied inconclusive, and they told her it was some sort of weird nerve tumor. Due to other health issues, she's since had a number of scans that have not revealed or indicated anything further. It was mostly forgotten about, until my ordeal. She's not had any symptoms, or related issues since.

3)  Where was your Schwannoma located?  And what were the symptoms that lead to your diagnosis?

The short version:

The Schwannoma I had removed was directly on my spinal cord, in a lower lumbar vertebra. It was pinching off my sciatic nerve, and causing immense and growing pain in my lower back and down my left leg. It was slowly paralyzing me.

Here is the long version:

When I was a teenager, I had weird pains down my legs. I was always told they were growing pains. I accepted that answer, and was glad I was 6'1". Later, in my late twenties, I experienced sharp pains shooting through my legs. This wasn't very frequent. It was usually when trying to fall asleep, but not having my hips in my favored sleeping position. I accepted this as due to a physically demanding profession. There were a few lower back issues in my early thirties, but these were always thought to be work related. Then, one Saturday morning in January 2011, my dog jumped the neighbor’s fence, and was trapped in their back yard. I climbed the tall wooden fence, and was able to then climb down the other side. I pushed my dog over the fence, only for her to run off in another direction. In pursuit, I climbed back up the fence, and jumped to the ground. As I landed, my back buckled. I figured bed rest the remainder of the weekend would have me back to work Monday. No luck, Monday I was at my doctor. As common for a back injury, I was prescribed a few painkillers, and muscle relaxers. By Thursday it was clear something was very wrong. After some convincing, my doctor sent me to a small "open MRI", where they took images of my lower back. The results had my doctor sending me to a different MRI, for images to be done both, with and without, contrast dye. During this time, things were becoming much worse for me pain wise. Those results had me summoned into his office to be told I was now going to be sent back for a full spinal and cranial MRI. They'd found a "mass", and wanted to know what exactly is going on, this was nothing to do with an injury from jumping down from a fence.

Nobody likes to hear about a "mass". My general practitioner said I could call it whatever I want, a mass, legion, tumor, lump, or growth, it didn't matter. Without a biopsy, which I was assured was coming, they didn't like assuming anything. Like anyone else, I was thinking cancer.  The full spinal/cranial MRI revealed numerous "masses", including one on a certain nerve of my brain stem. I was promptly referred to a local neurosurgeon. The pain in my back, and leg increased daily. I was put on Dexamethasone to ease swelling until I could get into surgery, and was on moderately heavy narcotics for the pain. I was slowly loosing sensation, and strength in my left, and later my right leg. Without having this schwannoma removed, I would have been paralyzed pretty quickly, as it was growing very fast after the fence incident. The first MRIs indicated it was acorn size, but it was walnut size when the surgeon removed it, less than two months after my initial doctor visit. Keep in mind; this is inside my vertebrae, on my spinal cord.

The schwannomas, as they turned out to be, were many. My brain, cervical, thoracic, and lumbar portions of spinal cord all have schwannomas. The many in my very lower back are "too many to count".

Also, worth noting, there are none to be found anywhere else, only my spinal cord, from brain to bottom.

The third MRI had the neurosurgeon asking many long probing questions relating to family medical history, and any "other" weird symptoms of unknown cause. I was scared, because they seemed truly intrigued, and I was becoming paralyzed.

Sorry for the length here, but I've come to understand there is no short and simple way to come to a Schwannomatosis diagnosis. I hope this isn't more than people care to read. I also hope it helps someone else out there. The not knowing or understanding was brutal during those first few weeks. It seemed I could find nothing on the subject, just one description that website after website copy and pasted from somewhere.

4)   Could you describe, in whatever detail possible, what kind of surgical treatment was performed on your Schwannoma, and if you would consider it successful? (Or describe what you may know about the surgery that may yet be performed, if you haven't been operated on yet)

Let me start by stating it was successful, because today I can walk. It's been a little over three years since the surgeries.

After weeks waiting to get into the operating room, I underwent the surgery to have this mass biopsied, (and removed if the surgeon felt it would be possible while he was in there). Prior to the operation I was educated at length on the risks of bringing a scalpel to my spinal cord, as well as the probabilities of waiting, and the certainties of doing nothing.

85% was removed. The biopsy confirmed all schwannoma suspicions. The initial surgery went off without a hitch. There were monitors hooked up to my head, hands, and feet, to determine whether motor control nerves were being affected. All cutting on this mass stopped when nothing more could be removed without sacrificing motor control, and thus, my mobility. After all, this was primarily to get some of this mass for a biopsy. I recovered in the hospital for a few days, and was sent home to return a week later to have my stitches taken out. The day before I was to have my stitches removed, my spinal cord tore open at the site of the schwannoma. I was unknowingly leaking "cerebral spinal fluid" internally. The pain grew fast, and tremendously. Calls to the doctor were fielded by an assistant believing I was trying to hustle more pain pills. I was told to go to an emergency room, if it was in fact, as severe as described. "You have an appointment tomorrow morning" I was told. Feeling stupid, I simply ate more pills in an attempt to combat the insane pain. Soon, cerebral spinal fluid (CSF) began gathering all around the entry site, and later began to seep through the stitches, and lots of it. A friend found me in a terrible state, and got me to the emergency room as the headache began. This headache (very much more than an "ache") was "intracranial hypotension" from my brain settling within my head, no longer enveloped in the very necessary CSF that protects it from contact with the skull.

The next morning there was an emergency surgery to go back in, through the same incision, and repair the rupture. I was informed that a bit more of my vertebra was removed, and my spinal cord was now patched even higher. I was made to keep flat and lie still in the hospital for days, having MRIs to monitor the progress. The day before I was going to return home, again, my spinal cord tore open. MRIs, and PhDs suggested, my body was regenerating spinal fluid at too high a rate, and the pressure was blowing out the patch.

Just like you may give blood and your body manufactures more, so goes CSF. As long as you're not losing it at a rate greater than your body can reproduce it, apparently, it's not a big deal. However, since my body was going overboard in its production, it was a big deal.

The final surgery was done. More of the vertebrae removed. This time, a "shunt" was placed into my spinal cord, a sort of “bleed off valve”. I was told I would spend two weeks lying perfectly flat, not moving, and having a nurse come drain off 10ml of CSF every hour. Being still was highly emphasized, I was given whatever needed. It was explained that if this didn't work, it wasn't known what more could be done, and I should prepare for a life of altered mobility. It was said that they really didn't want to induce a coma, so lay still I did.

I won't get into all the issues involved in a nurse coming to bleed off 10ml of spinal fluid every hour, around the clock. I will mention that it was very slow, and could sometimes take ten minutes, and they insist on waking you each time, if they can. There were a number of incidents, and issues. One particular time, after a nurse came and opened the valve, she left to briefly attend to something, but forgot to return. It was bad; I'll leave it at that.

In conclusion, it worked. I had three surgeries to my spinal cord within 18 days. Finally, I was able to go home from the hospital without it tearing open again. Today, I walk around, and can drive a stick shift. I'm calling it a success. Had I elected not to have any of this done, I would surely have suffered incredible pain, for a long time, only to be left completely paralyzed in my left leg at the very least.

5)   Having gone through the experience, what do you think are the most critical questions for someone to ask their doctor about surgery and treatment of this kind of schwannoma?

I will answer strictly speaking only about the kinds of schwannomas I'm familiar with, located on the spinal cord, as well as what has been transmitted to me by the professionals who've worked directly with me, on my case.

My understanding is that at this time, there is no such a thing as "treatment" for schwannomas, and I mean nothing. There is only removal, by surgery, and ONLY when the risks of inaction outweigh the risks of surgery. The risks of surgery are very high, as you may expect with the spinal cord. We're talking about cutting directly around, and on your spinal cord after all. It was expressed to me that, obviously, the closer to your head, the more valuable the real estate. It's the difference between losing the use of your legs and bowels, or the function of vital organs. Oddly, the one in my brain, which terrified the crap out of me, was of the least concern to the surgeon. He explained the brain is soft; it has plenty of room to allow growth. The ones that scared him, we're the few within my cervical, or neck, area. There is far less room to grow, and they can affect any number of things below, in any number of disastrous ways. They are also definitely NOT somewhere to go operating, unless to simply preserve life. Location, location, location.

Observation with MRIs, and alertness to any odd symptoms, seems the only thing to be done.

- Know ALL the risks. I've lost all sensation in much of my left leg. There is a "dead patch" that goes from my anus to my pinky toe. It wraps around my leg in places. I feel neither pain, nor temperature. This wasn't emphasized as a possibility in pre-surgery discussions, as they were clearly much more concerned about motor control, and the possibility of me being in a wheelchair, or incontinent. I mention this only to urge someone to know ALL the risks of the operation, however slight, and try to see past what are immediate concerns of the doctors. Believe me, I have no regrets, it's a very small price to pay, to be relieved of the suffering prior to the operation, and maintain full control of my legs. It just wasn't something I was expecting, assuming I had any idea what to expect post-surgery. We sure knew what to expect without surgery, I was already in the middle of it.

- Ask to know about your doctor's experience in any operations he’s performed relating to the spinal cord. I didn't, I trusted that he'd done many, and often. This isn't somewhere to trust. Get verified confirmation. The risks are simply far too high. If anything goes south, live the remainder of your life knowing you had a surgeon who was very experienced, and you weren't just part of someone's learning curve. In this respect, I was fortunate to have someone qualified, though I hadn't confirmed anything on my own.

- Ask about details of what recovery may be like, assuming everything goes smooth, as well as, if it doesn't. I was only concerned about getting this thing removed as soon as possible, recovery was an afterthought. Nobody seemed focused on it much.

6)   Can you describe what the recovery process was like for you – if you feel you have made a positive recovery…and what things you have done that have been of most help to you?  (Also, you are free to describe what doctors tell you to expect from your recovery if you haven't been in surgery yet)

I'm going to describe recovery, beginning with my return home, and assuming the reader is someone who's not experienced any long term, post-surgery hospital stay. There were a few surprises for me. I suppose I was supposed to "know" a few things, or, actually read through the volumes of paperwork you go through at the hospital. I doubt I'm the only one who didn't.

- Be aware that you may experience somewhat serious episodes of constipation. This is a side effect of the opiate pain relievers. I was given stool softeners that were little help after weeks of all sorts of pain medications.

- I didn't have any kind of physical therapy rehab. I remember everybody I came across later asking, then being in disbelief about it. I don't even remember it being discussed, or offered. I speculate that it was assumed that I was in good overall shape before, so, I’d return to good shape if I could still use my legs. This is what I assumed. I would advise getting answers from your doctor before, and have a plan. I wish I had.

- One of the toughest things for me was being unable to bathe, or shower for a week after I returned home. Having three surgeries through the same site in rapid succession made for an ugly scar, and tough stitches, stitches they did not want to get wet. This sounds insignificant, but it troubled me, maybe more than it will others.

- Worth noting about the lead up to the surgery, and the recovery after, was weight gain. This was due to the steroids (Dexamethasone) I was taking to keep the swelling down, preventing paralysis, and easing my pain. My experience was very bad. My primary care doctor was getting frantic that I was going diabetic, and forming cataracts from the high doses of Dexamethasone. The eating, and weight gain was crazy. I gained forty-five pounds, in about thirty days. I was covered in a rash of acne, had terrible gastric & indigestion problems, and emotional mood swings, swollen feet, and ankles.  In the hospital, post-surgery, they had to give me daily insulin injections.

- I've made a positive recovery. Today I have a few limitation, they are minor, if not insignificant, bearing in mind the magnitude of the whole thing.

7)  Are you able to do all or most the things you did before? (Also feel free to describe your abilities even if you are still living with the tumor or tumors)

I am able to do nearly everything I was able to do before.

In addition to this condition, I also have degenerative discs in my spine.  For the most part, I get around like someone with a weak, painful back. There are occasional flare-ups, but there are also days, or weeks that go by with little more than sharp pain when I bend over to pick stuff up, or when putting on shoes and socks. I have learned to always recline when sitting, and avoid walking, or standing for long periods. Running, jumping, lifting, or carrying heavy loads are no longer options for me.

I don’t want to go into the long list of issues I have, because I feel they are insignificant compared to what the many Schwannomatosis sufferers live with, also, they can easily be imagined as what anyone recovering from lower back issues such as a slipped or herniated disc would experience. This is not to say that this is all I will ever experience. There are doctors waiting, and watching to see what’s going to happen next.

I’ve been told to expect, and be alert to, or expect any combination of the following: Incontinence, seizures, pain, numbness, and burning, itching, loss of strength or movement.