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Nf1 - painful neurofibromas?

(16 Posts)
GinAndSonic Fri 06-Nov-15 21:52:08

Ds is 6, and has nf1. After 3 negative genetic tests for nf1 we recieved a diagnosis for nf1 anyway, as he developed lumps in his neck which his geneticist examined and determined to be neurofibromas. He has now developed more on that side, some on the other side (smaller ones) and yesterday I discovered some on his scalp. He sometimes say they hurt when I touch them, which I'm sure is not really entirely normal? He's also complaining of headaches quite often and of leg pain. I've left a message for the nf specialist nurse to call me, but haven't had a call yet, so I'm really just looking for support / experience from anyone with nf1 or a child with nf1. Really I want to see a geneticist, but he was passed over to his current geneticist because he was a bit of a mystery (his blood tests presented quite oddly and there was talk of him perhaps having a uniqueness that would end up having journal articles written about him) and she's the expert in nf1 in the uk but she's based in Manchester I believe, while we are in Newcastle, so he now has no geneticist in this city, and I have no indication that his geneticist will be doing another clinic here any time soon.

TheWildRumpyPumpus Fri 06-Nov-15 22:04:52

I'm interested to see your message as I was about to post one asking if anyone had any experience of neurofibromatosis. May I ask what led you to ask for your son to be tested in the first place?

DS1 has developed small growths all around his neck in the last few months which the doctor has said could be skin tags or molluscum contagiosum. He has 3 small cafe au lait spots on his torso and one huge one between his buttocks. No learning difficulties, and no diagnosed problems in DH or I but I have cafe au lait spots and growths also.

Should I go back and ask for a follow up or wait and see if it is molluscum? If they are NF1 growths will they get larger and problematic?

Sorry I've not helped you at all - is strange that I was going to post about NF1 this evening anyway!

GinAndSonic Fri 06-Nov-15 22:54:59

Ds was tested after about 4 years of being treat with watchful waiting with a probable diagnosis of nf1 due to his numerous cafe au lait patches. It was a mutual decision with his geneticist based on me wanting an answer and her being pretty sure he had it but being frustrated at being unable to give a diagnosis as he only had one sign (the cafe au lait patches).
The neuro foundation has information including the list of signs used for diagnosis, they need two or more signs, one of which is 6 or more cafe au lait patches of over 5mm in children, or 15mm in adults.
Typically most neurofibromas are around pea sized and usually don't cause issues on their own. They can grow larger, and can cause indirect issues if they rub on clothes etc. But it's a very unpredictable condition, with identical twins (so identical mutations) able to present completely differently.
It may be worth checking out the neuro foundation for info, and they have a helpline that I've never used but may be helpful. If you have CAL and lumps, potentially you could be diagnosed, which would make diagnosing your child easier if it came to it. Nf1 is usually diagnosed by signs rather than genetic testing as testing can produce false negatives (like my ds... Thrice confused)

I'm by no means an expert, in fact I'm feeling pretty lost and ill informed right now, but I'm always happy to chat, I felt very worried and alone when we were in the early stages of wondering with ds.

Which makes me think I should say, ds had an unrelated hospital admissions at just short of a year where the many CAL, that the hv had told me were just birth marks when I asked on a number of occasions why my child was growing dalmatian patches, drew interest from the Dr's and a referral to genetics. Ds had his first blood test at age 4. Until then they just did the usual checks that a diagnosed child has, just in case, and waited for more signs to develop, this is pretty usual procedure. I'm under the impression they don't suggest testing all that much, though that may have changed as the newer test (the one ds had 3 times) is more accurate than the old one that was used when he was a tiny tot.

How old is your ds?

GinAndSonic Fri 06-Nov-15 22:56:37

Gosh, I've waffled there. If I don't make sense ask me to clarify, I've written what popped into my head so may be a bit rambly.

GinAndSonic Sat 07-Nov-15 13:21:41

Anyone else?

heavenlypink Sat 07-Nov-15 13:30:43

Me - though my story is rather surprising

I 'self diagnosed' myself and DS only 18 months ago. In my own case it affects only my skin: freckles in "unusual places" confused cafe au lait marks a couple of raised lumps.

DS .... Well suffice to say it answers all the difficulties he has ever had!!!

I mentioned my concern to the paediatrician (DS also has epilepsy) she took one look at him one look at me and said, "Yes, I think you're probably right' Referred to genetic clinic and both given a clinical diagnosis. DS has yearly check ups and I have yearly breast screening

Certainly no expert but willing to share 'experience' stories etc

Btw DS is 18 and I'm 43

GinAndSonic Tue 10-Nov-15 12:27:56

Finally got hold an the nf1 specialist nurse and she's made an appointment with the geneticist he used to see, based in our city, on Tuesday. I need to clarify with her who is actually his geneticist and how often I should be taking him to see them. I also must mention
-Painful legs
- Restless behaviour / noise making
-Pain in neurofibromas

He's got a routine appointment with ophthalmology on Monday to check his eyes for signs of optic nerve glioma, so I'll mention the headaches then too.

The nurse sounded a bit unhappy with the headaches, so now I'm obviously in a tizzy about potential for him actually having a glioma.

heavenlypink Tue 10-Nov-15 22:46:58

Under 25's should be having yearly check ups at genetic clinic They send appointment out but are able to contact them with any concerns - though like you I've also had difficulty getting replies from the nurse team

GinAndSonic Tue 10-Nov-15 23:16:30

I feel a bit like I've been left with no real instruction on what to do about new lumps, what symptoms I should look for etc. I'm concerned because ds first ones are in his neck rather than ON his neck iyswm, they are under the skin rather than on it so I'm worried they could cause pressure on blood vessels etc. Of course, I was probably told lots of info on what to get checked out etc, but since it was given immediately after telling me that he had the neurofibromas, I haven't retained much from that appointment. But, I'm seeing the geneticist on Tuesday and the nurse is going to see me afterwards, so I'm taking a notebook and writing stuff down this time.

heavenlypink Tue 10-Nov-15 23:29:48

I'm in Newcastle and I've seen a couple of the Geneticist - both were lovely I've met one of the nurses and she was great too Very down to earth IYKWIM and she explained things really well Didn't feel stupid asking anything.

Have you looked at the NF1 site?

Don't look anywhere else - you will scare yourself silly

GinAndSonic Wed 11-Nov-15 06:48:40

I'm always on the neuro foundation website. Or one of the ones they link too. I used to be a nurse so even when I do Google I'm careful where I take info from.
We've known he probably had it since he was one, so I'm not really clueless. I'm just thrown. Everything I read said the neurofibromas usually start to appear around puberty, now I've got my 6 year old growing them and I'm envisioning a future where he has hundreds and he struggles with bullies etc.

nf1morethanjustlumpsandbumps Wed 11-Nov-15 07:10:44

As I'm sure you can guess from my name about my connections with NF. My son and myself were both diagnosed four years ago. Are you on Facebook? Some great NF support groups NF Mums Rock is great as is Funny Lumps. Whilst Funny Lumps is Scottish bases they give amazing online support with fantastic knowledgeable mums they've been a real lifeline for us.

DS has no visible fibromas but a plexiform on his spine and lower brain, he also has LDs, ASC and ADHD all pretty common in NF. I have quite a few fibromas and severe scoliosis. Is so difficult as every child presents so differently.

I'm in NI so no specialist nurses or NF clinic at all. I spend my life explaining what it is to medical professionals including our HV who had never heard of it so could never have picked it up. Both mine and my son's were picked up by an unrelated consultant appointment.

It's a very lonely thing with little support. We were diagnosed and sent away to get on with it after being told not to Google it. Always glad to share this NF journey with others.

heavenlypink Wed 11-Nov-15 19:37:03

Hi lumpsandbumps
Your story sounds similar to mine - although I had my suspicions for around four years it wasn't until last year I voiced them! And several opportunities were "missed" Women are offered breast screening from forty ..... not sure how long you have to wait to join that screening programme

GinAndSonic Tue 17-Nov-15 14:50:12

The geneticist has seen ds today and confirmed the lumps on his head are definitely neurofibromas. That with the lisch nodules the ophthalmologist identified yesterday confirms their diagnosis and he apparently won't see a geneticist any more, only the paediatrician. They think the headaches and leg pain are unrelated to the nf, but the paediatrician will see him in January and I'll mention it again then. Both the geneticist and the nurse agree that he's very hyperactive and the nurse said she wonders if he's got adhd. I mentioned that a while ago I thought he had tourettes but talked myself out of it, and she noted it down. She's going to arrange a meeting at the school to discuss how he is at school (much better than at home but writing and schooly stuff is what calms and focuses him so I think his hyperactivity and inattentiveness is masked by that) and try to build a picture to decide if he needs further assessment. She did say that even without a diagnosis he is presenting NF1 related learning difficulties.
So, basically nothing to worry about, but plenty to worry about iyswim.

heavenlypink Tue 17-Nov-15 17:02:25

As I've mentioned previously my/my sons diagnosis only happened last year - but it explained every difficulty he has ever had. I also supported a child at school with ADHD alongside NF1 his behaviour fluctuated quite a lot. He did struggle socially at times, had issues with motor skills and was behind his peers with his work. Whether this was related to one or both of his conditions is anyone's guess confused**

KingIrving Thu 26-Oct-17 06:09:44

I know it is a zombie thread, but there are new studies emerging on how to reduce the onset of neurofibromas or reduce existing ones and I am posting the link for anyone interested.

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