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Cafe du lait marks

4 replies

Kaye03 · 23/06/2020 03:06

Hi. My baby is going to be 8 weeks old. She came up with 6 big cafe du lait marks a few days after birth. Saw doctor, shes being referred to specialist, as it's one sign of having NF. is anyone else In the same situation?

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Are your children’s vaccines up to date?
Doyouwantanothercuppa · 23/06/2020 03:22

Sorry I can’t help. If you post on this thread again during the day you might get more of a response.

LeGrandBleu · 23/06/2020 08:08

I have NF1 and I want to tell you that NF1 is not the only syndrome which presents with Cafe au Lait spots. Another one is Legius syndrome and totally benign, so don't focus too much on NF1 yet. But of course you will, so let me say more.

As I said, I have Nf1 and I want you to know that whatever you will read online is either hugely outdated or the most extreme cases. I am in my 50s, was diagnosed in my 40s, I have very few neurofibromas which I am not bothered at all, I happily wear a bikini and nobody looking at my body on a beach or in a pool could tell I have NF1 - I even worked as a fitness model in my 20s. I speak 7 languages, had a fantastic career, blitzed through school and uni, have a happy family and 3 children.
Why do I tell you all that, because you will read about learning difficulties, disfigured bodies and debilitating tumours but won't read about the vast majority who is absolutely fine.

Now a bit of sciency-stuff:

The NF1 gene is the good guy. It is one of 65 tumour suppressor genes which job is to control cell proliferation. Nf1 down-regulates a cellular pathway called RAS. If Nf1 is mutated or missing, RAS goes on overdrive and more cell than necessary are produced and the signal to stop and die is weakened. This is a huge simplification because RAS is one of the most complex cellular pathway.
What I am trying to say is that NF1 doesn't cause anything. Its fails to prevent something from happening. But - here comes the good news- RAS is a very busy pathway and NF1 is only one of many players. RAS in undruggable , but other proteins are either sensitive to drugs (MEK) or nutrient (mTOR.)
The first MEK-drug has been approved for NF1 and its most severe cases and more research is being done.

Why do I tell you all the bio-chemical details. Because you need to understand how NF1 works and know that there is a small margin in your control. People with NF1 , even within the same mutation, even identical twins have very different manifestations. We are slowly beginning to understand the how and why but it is fair to say that there is more we don't know about NF1 than we know.
The fact that two persons with the same mutations have very different outcomes shows that it is not linked to the gene alone. Other molecular and cellular interaction play a role.

What is going to happen now. You will see a specialist who will talk about diagnostic criteria and that your child needs to meet two out of a list. That list was created in 1988, two years before the NF1 gene was identified in 1990. That list also has a major flaw , the manifestations are age related (Cafe au lait in infancy, litchi nodules after the age of 6 and so on) therefor is totally useless in 2020 when a suspicion given by CAL (Cafe au lait) can be confirmed or dismissed with a simple genetic test. There is a push to change the diagnostic list. If that doctor talks to you about wanting to wait a couple of years, mention this book "Multidisciplinary Approach to Neurofibromatosis Type 1 " Written by Tadini and Legius, published now June 2020 and their call to change the criteria.
Push for the genetic test, put your mind at rest, and if NF1 is confirmed, there will be things to do and consider , and if dismissed you can forget all about it instead of obsessing during years.
All the best, ask all the questions and be assured you can have NF1 and be absolutely fine

LeGrandBleu · 23/06/2020 08:10

Lisch nodules , not litchi - autocorrect

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Kaye03 · 23/06/2020 09:07

LeGrandBleu thank you so much for all the information. It's been really helpful, I really appreciate it

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