View Full Version : 12 year old niece newly diagnosed

12-04-2005, 02:47 AM
About a year ago my sister noticed that her daughter was developing a curve. I have NF1 and related Scoliosis from that, but my sister does not have NF. My sister said she first noticed the curve after my niece had a bad case of strep. Dr. at first thought it was meningitis, but ruled it out when the strep test was positive. My sister is wondering if she actually did have meningitis and the Scoliosis is a result of that. She did get antibiotics, but from what I have read meningitis is a SERIOUS illness. Anyway, my niece finally got in to see a Dr. on Friday.

They saw Dr. Rubery in Rochester. He said he was "concerned" because my niece is curving to the left, and that normally teen idiopathic Scoliosis curves to the right. He is also "concerned" because he saw "other abnormalities" when he was examining her. He also said her reflexes were "jerky".

She had an MRI done today, but of course they won't get the results until at the earliest Monday.

He checked her for NF and found only 1 CAL on her back so he pretty much ruled out NF.

So now my question is, what could cause the jerky reflexes and the left curvature? Any guesses on what the "abnormalities" were that he saw? My first thought is spinal tumor, but maybe something more/less serious? Any thoughts or experiences with similar issues would be greatly appreciated.

Mary Lou
12-04-2005, 06:21 AM
Hi AuntSue,

My daughter has Scoliosis and also saw a Neurologist because we think she too has NF (she has Scoliosis, Cafe au latte spots, but no family history of NF or Scoliosis). She also saw the Neurologist because there is a family history of Charcot-Marie-Tooth (CMT). Scoliosis is also a side effect of CMT. Jamie doesn't have any reflexes in her knees, which could be from CMT. Without a bunch of testing, including genetic testing, they won't give a diagnosis for either, but since there isn't a cure for either one, my daughter figures, why bother!

Before her surgery, they did do an MRI and CAT scan which showed nothing abnormal.

Good luck and try not to worry too much.

Mary Lou

12-04-2005, 01:52 PM
I haven't had a chance yet but I'll google CMT and see what that is all about.

It is hard not to worry about it. Usually you just figure "oh, its "just" Scoliosis, worse case they'll do surgery. But then when he starts talking about "abnormalities" it gets a little worrisome.

The hardest part is she lives 2700 miles away so I can't even really be "there" for her. :(

Anyway, thanks for replying. Hopefully we will know more on Monday.

12-04-2005, 06:26 PM
Hello MaryLou,

I have seen your post several times about Cafe au latte spots. What is this? Is that truly the name of the condition or just something you call it?

Kindest Regards,

Mary Lou
12-04-2005, 06:41 PM
Hi Gail,

Cafe au latte was the name given to us by the Neurologist to label the "patches" Jamie has on her skin. These patches are just one sign/symptom of NF that people can have. Usually, the doctors require a person to have I think six or more patches of a certain size before they seriously consider a diagnosis of NF.

Hope this helps,
Mary Lou

12-04-2005, 06:44 PM
Thanks MaryLou. After posting I went on the internet and did a search. I have seen patches of cafe au lait on people and assumed it was a birth mark. Well, I just keep learning...that's what I love about this message board!

Kindest Regards,

12-05-2005, 10:12 AM
Imagine my surprise as I was doing a Google search on "left curve scoliosis" and found this forum - and then the post from my sister, AuntSue, about my girl!! I want to thank everyone who has replied so far - and say that I am so glad to have found my way here. As you might imagine, I could use the support - and so will Emily.

It is Monday a.m. and I am waiting to hear from Dr. Rubery, who, by the way, is wonderful! It could be a couple of days, tho. Sue's post here echoed my interpretation of the Dr's "concern" about "abnormalities" in Emily's curvature based on my conversation with our mom after Em's appt on Friday. Since then I have been doing alot of reading about scoliosis, left curvature and NF1 and I understand now that what he meant was that left curvature is most often indicative of a neurological basis for the scoliosis. This indication would be magnified by his observance of "jerky" reflexes. Although Emily doesn't seem to have typical "symptoms" of NF1, other than the one cafe au lait spot, I will be surprised if she doesn't have it. Having a family history of NF1 is a huge indicator and Em presents absolutely no symptoms associated with any other neurological cause of scoliosis. Although we never thought I had NF, what I've been reading about the genetics indicates that I, in fact, would have to have NF1 for my child(ren) to be affected, although I've never presented any symptoms at all. At any rate, looking at Em's xrays Friday was like looking at my little sister's xrays almost 40 years ago - it was not a sight I'd forgotten and it was really scary. Having grown up watching Sue go through the he** of repeated surgeries, casts, bracing, etc., I am sick at heart for my "baby" girl. I keep hearing that procedures now are less invasive, more modern, etc., but what I've been able to find online about what's actually done in these surgeries is the same stuff they did for Sue all those years ago. It seems that other than attaching a rod and fusing the spine with bone grafts, they've come up with nothing else. And I don't even want to think about the "halo". Is there anything anyone can tell me about their (child's) recent surgery to give me a better idea of what to expect? Dr Rubery is talking as early as Dec 22nd, depending on the results of the MRI, for Emily's surgery. At this point I'm a little overwhelmed and would just as soon go hide in a hole somewhere as deal with this. Any comments/info/support you can offer would do us all (including my sister, my brother, and my mom who've already been through this trauma once) a world of good. Thanks.

12-05-2005, 12:27 PM
moms4ne, I don't know anything about NF1, but scoliosis surgeries are way less invasive than they were 40 years ago. The average hospital stay is 4-7 days. These kids are up and walking within 24-48 hours after surgery. The purpose of the rods and pins is to support the fusion while it heals vs. having a cast for what would seem like forever. My daughter did come home with a brace. It's whole purpose was to support her back during the first 8-12 weeks of healing because her fusion was so long. But, it was nothing horrible. Surgery is very scary. I won't deny it. I cried when they took my daughter away into surgery and I cried when they took us back to see her in recovery. I cried before her surgery because I was scared. I cried after surgery because I was releaved. Do remember, if you are still confused about your daughters prognosis, you as the parent have a right to a 2nd, 3rd, 4th, 5th, etc., etc., etc., opinion. I think Mary Lou got opinions from 4 or 5 doctors. We liked the first one we saw. I am curious why he is recommending surgery so quickly.


12-05-2005, 12:53 PM
Hi Nikki - Thank you for your response. I am sure I will cry, too. I think the Dr is recommending surgery so quickly due to the severe curve of her scoliosis and the fast progression. There was nothing 15 months ago and now it's very extreme. We won't know for sure about surgery, or what kind of surgery, until the results of her MRI are back, tho he seemed pretty definite about going that direction. He has a very good reputation (http://www.uofrspine.com/about/paul_rubery.html) and we liked his "bedside manner" very much, so I trust him already. I also don't have alot of options as I need to go with a doctor who is a "provider" on Em's insurance plan.

It's good to hear that they are on their feet again so soon - I remember my sister couldn't go back to school and had to have a tutor come to the house. Did your daughter experience alot of pain? How long has it been since her surgery and how is she doing now? How long did she wear the brace and did she have problems with it? The more I know, the more I can reassure Emily and prepare her for what comes next. Thanks for your support. Marcie

Mary Lou
12-05-2005, 01:29 PM


I'm glad to hear that you've found a doctor who you are pleased with. For us, as Nikki said, we saw five doctors and finally decided that the fifth one was the right doctor for us.

As you will find out, every child is different when it comes to their recovery from surgery so please only use out stories as a guide and trust yourself to judge when you daughter is ready to do things. My daughter will be one year post-op on Wednesday and she is doing great! Jamie was in the hospital for six days, returned to school at about 4 1/2 weeks (1/2 days) and full-time at 6 weeks. Jamie's recovery was a quick one, however her restrictions were in place a lot longer than most kids'.

Tell Emily she can e-mail Jamie at Spinesupport05@aol.com if she wants to talk to her.

Mary Lou

12-05-2005, 03:04 PM
Marcie, Crystal will be 9 months post-op the 15th of December and going 900 miles an hour. The only thing that has slowed her down, and only shortly, was the removal of 7 kidney stones four weeks ago. She said that pain was much worse than the pain from her back surgery. If you were to ask Crystal today how her back feels. She will tell you she has way less pain now than she did before her surgery. She said her pain from surgery was way different feeling than her back pain. There will be a magic number in recovery and it is the number 3. Both you and your child will see dramatic changes at 3 weeks and 3 months. These times are really big turning points for recovery. As far as Crystal brace goes, it was used just strictly to support her back while it healed the first 8-12 weeks. She liked the support it gave her and didn't object to it at all. She was back at school at 3 weeks post op, which is pretty quick. After two weeks out of the school, I think most schools have to require a tutor for your daughter. These will be things you need to check on with your school district. She had a job at McDonalds about 12-14 weeks post op. Most kids are 6-8 weeks before they are back to school. We have a very small high school, so we weren't to worried about things with her. If she got tired, the would go into the sick room and rest. Her biggest advantage is that she is an athlete and she recovered quickly. Her disadvantage is she is an athlete and she can't play basketball this year, and its her junior year in high school. She won't even go watch her sister play.

Has the doctor told you Emily's degrees on her curves, what his plan of attack is, is bracing a possibility, if he does surgery will he be doing anterior, posterior, or both. Where will he take the bone graft from, what levels is he planning on fusing, does he want your daughter to donate blood, what hospital is he doing the surgery at, how good is their pain management team, can you have a tour of the floor she will be on and talk to a pain management team member, how long does he expect her stay in the hospital to be?

Crystal had an 88 degree curve and a 28 degree curve. She was fused from T2-L2. Her bone graft material was from a donor. She didn't have to donate blood, but a lot of kids need to.

Get a piece of paper and make a list of questions for him. Ask others to give you a list of questions too. I have only listed a few questions.