Cafe Au Lait Spots - NF1 - So terrified

[newdad198757]

Hi all,

Ok - this is my first post on Mumsnet, so I am sorry if I write too much - too little. But I wanted to share where I am as a new dad and the experience we are having.

Our little girl is 10 months-old, and was born with 2 cafe au lait spots on her tummy. Over the course of the last several weeks we have spotted multiple cafe au lait spots appearing. Almost pea size. When I talk Cafe Au lait, we are talking super light grey, almost faded bruise color. Not the prominent Au lait marks you can find online.

We were initially told by doctors that the ones she was born with are harmless 'birth marks' - yet when we looked online, the blood ran straight from our body. As it suggests on the NHS website (UK Healthcare), any more than 5 can be a hallmark for NF1 (Neurofibromatosis). I can't explain how sad, upset, scared and anxious myself and wife have been - it went from harmless, to when you read up something absolutely terrifying.

We quickly went to our GP - who calmly looked at the marks and outlined he was not worried at all. There were no other symptoms suggestive of NF1 such as freckling in groin or armpits, delays on growth etc etc. He was not concerned and said he was happy for no more investigation work to commence.

We left relieved. But still wanted to know what they were. So, we booked an appointment to see private dermatologist today - who said in short, they could be signs of, and would like to refer us to a genetics centere at a childrens hospital to rule it out. So, we are now waiting for a referral form to go down that path.

We are back on the terrified train. Terrified. Can't stop thinking of all the horrible and scary words we say when the NF1 thing came up on Google.

Please, has anybody been through something similar? Could these Au Lait spots be nothing? Should we be as terrified of this whole NF1 thing as it sounds?

I just want a conversation with people. Humans. Who don't scare the life out of me. I have the worst feeling of anxiety and fear as a dad I just don't know what to read/ know what to do.

There is NF1 in my wider family and out of 30 people only 1 person had a problem which could be attributed to it - nothing visible or remotely life threatening.

I have cafe au lait marks and so did my son when he was small. No problems have been caused at all - we are both 100% healthy. I am in my 50's and he is now in his teens.

Try not to worry. Babies can often have a few cafe au lait marks and by the time they are 8/9 years old they may have all vanished - my sons did.

It's really not worth getting scared for - especially if your child is healthy and strong, can see and hear, eat and digest.

All our babies could have a thousand invisible problems. It's just not worth getting terrified about until you have a definite problem to deal with. Which you don't by the sounds of things.

Thank you so much for taking the time out of your day with these words. I genuinely needed some of this collected commentary. It's been almost devastating to go from what was harmless to something that, online, is almost terrifying (in how it can be described). Although nothing has been prescribed that the little one has NF1 - you can't help but just jump from A-Z. Providing your first-hand experiences of this is truly appreciated.

You’ve raised a concern and your child will be reviewed by clinicians familiar with NF. This is a good thing as either they will reassure you or give you accurate information.

NF1 is a hugely variable condition with a very long list of possible complications that most people with NF1 will not develop. Googling shows you the worst stories, not the typical ones.

you have a healthy child with a few marks on their skin that you are getting checked out. This is what a responsible parent does.

If it turns out your daughter has NF, this may pose extra challenges for her but remember every one faces challenges. for most people NF doesn’t stop you going to school, working, getting married, having children or grandchildren.

Very Insensitive of you to respond with A.I. The OP wants personal responses, not automated gobbledegook.

They can be nothing! I was born with some, then developed more. I never developed NF. I'm 48 so it'd probably have shown by now!

Obviously given my age, genetic testing either wasn't in existence or wasn't as accessible as it is now, so I used to have follow ups with a Dr. No issues ever detected.

I still have a few cafe au lait marks now, so most faded but not all. I'm also very moley, so it's probably just how my melanin works.

Hope that reassures you that in my case it was genuinely nothing, and I hope it is for you too. But even if it is NF, as a pp wrote, it still might not have any, or much significance.

First time for me to be mistaken for AI!

Apologies to @newdad198757if my previous reply didn't come across as intended. Of course you are worried, but if it is NF don’t let the extreme stories online terrify you. Like Donegood, most of the people I know with NF are healthy.

My daughter was born with two cafe au lait spots (one quite large) and developed a few later in childhood. I, like you, read about it. What I didn't realized until I got quite far in my reading is that people from different geographic areas have different "normal" numbers of such spots. I then looked at DH's skin and noticed that he, a South Asian man, has a number of these spots and no symptoms; our daughter is the same.

Thank you all for taking the time out to message. I’m just down an anxious rabbit hole and appreciate anything at this stage in terms of experiences and guidance

Hi! I’m an NF1 mum of an amazing 14yr old boy, and I hope I can offer you some reassurance.

My son was born with a handful of CAL spots, which we just thought were birthmarks, and a couple of small fatty lumps. As they were soft, I/we just assumed they were just how his skin is/was. I now regret not mentioning these to the GP (I’m a natural worrier, and I could have easily spent 90% of my time at the GP surgery). I tried to be rational with those marks/lumps.

It was during a physical examination for another medical condition, aged 12yrs old, that other signs of NF1 were noticed (ones we had not seen). These arose at puberty (freckling in the armpit, dipped chest wall, huge increase in the numbers of CALs/fatty bumps). We were advised that he all the signs for NF1, and to go home and read up on it.

My son was soon referred for a consultant appt and genetic blood test. Based on his symptoms alone, the consultant diagnosed him with NF1, but the test later confirmed it.

He had MRIs of the brain and the spine, where they found growths. There was initial concern about these growths, but further tests showed they weren’t a concern. It was a huge relief!

My son was referred to a specialists hospital in London, due to his case being considered as complex. He had the appt a couple of weeks ago, where we were told that he is, on the whole, a healthy young man 🥰.

He has a few minor health issues, but you honestly wouldn’t know he has NF1 unless you knew what to look for. Life is going really well for him, and we couldn’t ask for more.

It’s hard not to dwell on what the future holds for him, but for now we take each day at a time, and focus on the positives. If things change with his health at any point, we will cross that bridge as and when.

No two cases of NF1 are the same. I was hearing about a mother of an NF1 child, who only found out she had NF1 after her child was diagnosed. It just shows how little the condition had impacted her, for her not to have suspected it.

I completely understand how you are feeling right now. So many unknowns for you all. But please try not to worry (easier said than done). If your child is diagnosed with NF1, please join us on the Childhood Tumour Trust and Nerve Tumours Facebook pages, where there is lots of love and support for you and your family. You will be able to find out a lot of information about the condition, and we will become like a family to you (if you want us to, that is 😊).

If you wish to read it, I recently post a thread about NF1, as I am keen to raise awareness of the condition. My wish is for people to recognise the symptoms that we were oblivious to.

Sending a positive thoughts your way 🌺.

In hindsight, I think the start of my previous post makes it appear that I have NF1. To clarify, I don’t, but my wonderful son does.

newdad198757 how are you feeling today about everything?