NF1 / Neurofibromatosis / Cafe au Lait Spots - help :(

[theonlyoneiknow]

Hi

I am really freaking out and need a hand hold please.

DD is 6 mo and was at the doctor for something totally unrelated and he commented on her cafe au lait birthmarks and counted five. He asked me If I had any and I said yes, quite a few! He them referred her to the genetisct and mentioned NF1 which I had never heard of.

Cue google when I got home and I am now in a real state. Not only do i have two of the criteria for a diagnosis (6 cafe au lait spots bigger than 15mm and underarm and groin freckling) but i also have à couple of fatty lumps under the skin which GP had said were lipomas but could be wrong and they could be neurofibromas.

How can i be 40 and never diagnosed! I also counted 4 cafe au lait spots and saw underarm freckling on 3 year old DS.

I am in a mess, not only do i have à genetic disorder I didnt know i had but I have very probably unwittingly passed it on to my two beautiful babies. I have spent too much time on google and am horrified at how severe this disorder can be. I feel like i am living in the middle of a very bad dream. I cannot sleep for worrying what is going to happen. Its a,very unpredictable
isorder and can vary wildly in symptoms between family members.

I know none of us have been officially diagnosed yet but enough criteria is there. It is really getting me down and I cant stop thinking about it.

Does anyone have any experience of NF1 or how i can get my head around such life changing news?

Thanks xx

[smile4me]

Sorry I don't have any experience directly, but I know a little! There is a huge variation in severity of NF, so IF that's what you've got, then you obviously don't have it too severely, or it would have been diagnosed earlier, and the same should be true for your DCs IF they've got it too But there's a good chance it's not so don't panic with those horrible pics on google until you've seen the geneticist. I have several several cafe au lait marks and underarm freckling too, but no NF (that I know about) so hopefully it's just random.

[theonlyoneiknow]

Thank you smile. DP has just fallen out with me for worrying about things before they happen. Everything I have read says that even If the parent has it mildly the child can have à severe case or vice versa? Did you get tested? Right up until last week I just thought they had inherited my birthmarks!

[theonlyoneiknow]

Thank you shitmagnet. I am looking at worse case scenario I know but its hard not to given we all seem to fit their diagnostic criteria. I feel like i am in a bubble though and its not really happening. I will wake up in the night and for a split second all is ok then I remember and my chest goes all tight.

I sound very melodramatic!

Did you just send your blood test off yourself privately? From what I have heard they dont do blood tests routinely in the UK as its pretty expensive. I read about spred-1 and got my hopes up then realised my lipomas are probably neurofibromas which means nf1

Glad your tests were negative that must have been à huge relief! I had never even heard of this disorder till now. Have asked my parents If they have any signs. For my sanity I need to.stay away from google. !!

[theonlyoneiknow]

I switch between wishing the doctor hadnt spotted her birthmarks and Being glad he did as i know early monitoring can be key.

Would they not do the blood test at your hospital? I dont think they routinely do it in the uk as its costly to the nhs. I am now checking myself for hidden bumps under the skin!

Thank you for your kind words x

[HelenMumsnet]

Hello there, theonlyoneiknow

We're sorry this has upset you all so much (and no wonder).

If you like, we could move your thread to our Special Needs section? We're sure there will be some posters there who will be able to help you and answer your Qs.

Do let us know if you'd like that.

[HelenMumsnet]

Oh, I am a prize twit.

I can know see that you have mailed in to ask us to move the thread, theonlyoneiknow.

Will do now - and then run away, covered in shame.

[theonlyoneiknow]

No problem Helen, thanks very much for moving it

[auntevil]

Sorry I don't know much about NF1, but I do know that genetic testing on the NHS needn't cost an arm and a leg.
Our GP referred DS1 to the genetics dept. This was only after privately asking the genetics dept that our PCT uses how much it would be privately.
Genetics gave a cost in the region of £300, but said that based on the info in the 5 line e-mail that I sent, the GP should refer and it would cost the GP £0 to do so!
FF 5 months and we have a dx - and DH and I are being sent for further tests.
I over googled too, but I was in the right ball park of dx. Like the others have said, ours is on the less severe of the continuum. If it had of been the severe end, I don't think I would have got as old as I am without having worked it out before

[BeeMom]

Bee has CAL and axial freckling... so does her daddy. We actually had NF1 as a working dx for over a year, then her neuro said while it is a strong indicator for investigation, it certainly doesn't always add up to a diagnosis.

Just remember... Dr. Google doesn't pay malpractice insurance

[theonlyoneiknow]

Thank you. I guess denial is part of the process with coming to terms with things? I know nobody has an official diagnosis but its hard to be optimistic when I am ticking off the diagnostic criteria looking at my signs!

The unpredictability of the disorder is really worrying me. I think given I am 40 and its only been picked up now can hopefully mean they will be willing to do a blood test (although have read it can give 5% false negative results). I am so scared for the children more than myself and am feeling so crap I have probably passed this onto them and all I can do is pray that they will follow the same course I did and get to 40 with only a few birthmarks, some freckles and a couple of under the skin bumps. Sadly everything I have read said there is no rhyme or reason to NF1 within family members and how it affects can vary wildly :-(

[BeeMom]

If you want to chat privately, pop me a message... to avoid a long story, I have a condition that, because I have a mild presentation, went unnoticed too. My DS has it, and we did not even know of it until Bee was born and started having problems. The back-tracking started, and I soon learned that I gave it to her. I have dealt with a ton of irrational guilt as a result, as her presentation is severe, and we shudder for her future...

[theonlyoneiknow]

Hi BeeMom, have messaged you.

[theonlyoneiknow]

Just bumping. Anybody else have experience of nf1? Thanks

[butterfingerz]

Hi theonlyone... I'm going through a similar thing with my ds who is 21 months. We took him to A+E last year and was admitted to the ward for a wheezing episode which he suffers from occasionally. One of the consultants noticed a few cal marks and asked how many he has in total, if theres any inherited conditions in our family. He only has maybe 4 quite small cals with some freckling around the groin at the moment. We shrugged the consultant off as we didn't really know what she was getting at... at the time.

I forgot about it, but I don't know, its come back into my thoughts. When I look at the early indicators for NF1, yes he has a few marks but he also has a big head (was born on the 99th percentile for that) and isn't really talking at all but makes lots of noise. I myself don't have any symptoms but I have one caf mark on my back. I remember my mum mentioning something relating to that and the condition many years ago but don't know anyone in my family having it though maybe she meant that a few of her relatives had the skin symptoms.

Its quite scary, I've googled also unfortunately, its horrible to think of what will happen if my ds is affected severely by nf1. Have you been to the GP yet for yourself or your dc? I've read its difficult to get a diagnosis before the age of 5yrs so I'm not sure whether to wait until we see my ds's consultant in the summer (for something unrelated - allergy).

[Booville3]

Hello I know this was over a year ago now but wondering how it all panned out? Been to the hospital today with my ds who is being watched for further signs of nf only 6mo at present, wish I could organise some genetic testing I would definitely pay for this as I'm desperate to know one way or another instead of constantly checking him for further marks!!!

[Faeeza]

Hi! I’ve just googled nf1 and your question came up. I hope you don’t mind me asking, as I can see you posted this years ago!!
I feel asthough I’m in the same position now as you were then. Last week I posted a pic of my daughters underarm cafe au lait spots and someone suggested it was nf1. The doctor has seen photos and has referred her. She is 11. I’m soooooooo worried, like you I’d never heard of this. I’m going out of my mind with worry. I don’t have any spots and neither does my husband. But my daughter has around 15 underarm and 2 groin area.
What happened with your situation if you don’t mind me asking? Are your babies ok? Xxx

[Furbie22]

Hi same situation. My DS is being investigated for a cafe au lait mark, he is 8 months and this is all so frightening. Please feel free to message me.

[Kaiken]

@Furbie22 have you already seen a geneticist? I have NF1 and totally unaffected by it

[Furbie22]

No we saw the hospital dermatologist team and are now awaiting a referral meeting to see if we will be referred to the specialist team at st guys so a way away from that yet. I'm not sure if nf1 is what my DS has but definitely cafe au lait. Would you share your experience of being diagnosed either via private message or here? I'm glad to hear you are unaffected! Reassuring. It's unclear what lies ahead for us...
Would you like to see a genealogist? I hope you can if so.

[Kaiken]

I am not sure I understand your last sentence Would you like to see a genealogist? I hope you can if so.

Cafe au lait macules are not unique to Nf1. There are other disorders that have them such as Legius and there is no way to differentiate one from the other without a genetic test.
The process of diagnosis today is way different than what it was 30 years ago when genetic testing didn't exist and as a result diagnosis was either delayed or plain wrong. In my case, despite the numerous manifestations, from abnormal spine curvature to cutaneous and subcutaneous neurofibromas , my Nf1 was missed . I had the genetic test in my 40s, at which point I started reading about Nf1 and how to minimise the impact of the mutation. I have now, just a handful of neurofibromas which I would have to point to you for you to see them.

I am deeply involved in research and an active member in several REINS NF1 groups.

I would push for a genetic test, which they might offer or not. A very common stance is "wait and see" which is rubbish as prevention of severity of manifestation is to be preferred to reacting to symptoms.

[Furbie22]

That's helpful thank you. I was unsure how it was diagnosed as still in the very early stages of this whole process and yes we don't even know if it nf1 for us yet. Glad you are doing well and I'm sorry you had to fight so hard and wait so long to get the right diagnosis / treatment. Depending on what we are told I may message you again if that's ok as you sound v knowledgeable. Wishing you the best!

[Kaiken]

Of course you can message me. I would love to read an update. Fingers crossed it is just some random hyperpigmentation. Is your DS very fair, or with red hair, or mixed heritage?
I ask because :

We do see occasional healthy children with as many as six café-au-lait spots, though usually these spots are usually relatively indistinct and have irregular margins. Often these children have fair skin and red hair, or have parents of different ancestry, with one having darker skin than the other.
These children tend to be healthy and do not have any underlying medical problem as far as is known.

www.uab.edu/medicine/nfprogram/cafe-au-lait-statement-from-dr-korf

[Hm2020]

Bit late to the thread but my my ds who’s nearly 8 has had a skin biopsy of one of his cal marks and has had one lot of genetic testing which took 6 months and was negative but they’re so sure if it’s possibly nf1 or another rare genetic thing that they’re doing another lot of tests on the same biopsy. The biopsy’s was taken With local anaesthetic as a day case it was stitched and left a small scar. We’ve been told the most important thing is to keep all the marks out the sun his consultant for something unrelated waited about 6 years counting them before referring to dermatology and genetics hth anyone here.