50% chance of baby have genetic disorder

[MoiraRose1]

Hello
First time posting.
My partner has NF1 also known as neurofibromatosis. He has it very midly and its not really affected him at all apart from one benign tumor on his tongue. He does have some on his chest as well but they just look like spots.
Neither of his parents have it so he didn't inherit genetically. However there is a 50% chance our baby could have it and you can never predict how severe it could be as everyone with it is different.
We are wanting to TTC and it just keeps crossing my mind. I had made the decision that we would try and see what happens the child will be loved no matter what. But I still keep getting a little worry in my head. I know the other option is IVF but not sure if I would be able to go through that. I'm 29 and desperate for a baby.
Please be kind in responses. I just wonder if anyone has been in a similar situation with the same disorder.
Thank you.

Not in your situation but I have one friend whose daughter has NF1... but you'd never know.. she is fine apart from one benign tumour and a few cafe au lait marks, (she's 20 now, typical in every way)
But I also work with children who have special needs and one of my class has NF1.. tons of cafe au lait spots, severely autistic and very challenging behaviour (non verbal but boy does she pack a punch). So on that score.. it's luck of the draw.

I have four children.. one is fine, two have a genetic syndrome (cognitively fine but physical problems) and one is autistic with learning difficulties. However we are a very happy family .. two are married and in good jobs despite their issues, youngest will always be dependent on us. And they are fabulous.

I think what I'm saying is; there are no guarantees in life, if you want a baby, go for it..

Thank you for your response.
I work with children with SEN as well. So I know that like you said there is no guarantee that any child will be completely healthy. The children I work with are amazing. I have always said you shouldn't have children if you aren't prepared that one may have needs.

If you go down the IVF route would they be able to test embryo prior to implantation?
If so I'd be more inclined to go down that route

Hi OP,

Different condition but similar situation, one of us had genetic condition but luckily is only mildly affected, straight 50:50 chance of passing it on. It is a hidden disability, Very unpredictable. Symptoms range from mild to worse case death in infancy. GParent very affected now as condition usually worsens in life. It can also be worse if you don't know about it so because only mildly affected and knew they could be tested we decided to risk it and had DC then had them genetically tested. We got lucky and won't be having anymore DC. I feel now they are older that we gambled with their health, but advances in medical science has improved life chances for those with this condition so you never know what the future could bring.
It is a very personal and very hard decision 

I've done IVF myself and really didn't find it that bad.

In your situation, if its a condition which has the ability to alter quality of life, I think id do IVF with PGD testing to see if the embryo had the genetic condition or not. A friend of mine recently did this due to CF. 3 embryos had the gene and 5 didnt

Have you had any genetic counselling? I think you need to talk through and explore all options before you can make a decision.

My friend is a genetic counsellor so spoke to her about it.
But they can't advise exactly what to do only give options and I know the options.
Just a lot to think about.

What age were you of you don't mind me asking?
It affects everyone differently and thr majority of people have it midly. Its rare for it to get bad but you never know.

I'm aware of NF.
Just my opinion - I think part of being a parent is doing everything you can to allow your child to be happy and healthy, even if it's harder for you as a parent.
For me that would translate to me taking the IVF option with PGD. Anything else is a gamble really.
I understand the feeling of wanting a baby, and wanting to do it naturally and the chance everything will be ok/mild but for me I know I would have to give any child the best chance of that. In this case that looks to me like PGD.
That's my personal take. Others would look at it and see it differently.

Hello, my husband also has NF1 and we have a 4 year old who likely has it too. We didn't know about the 50/50 chance or testing available then.
I've just found out I'm pregnant again and we're going to have testing done and make a decision.
Have you spoken to a genetics clinic? Our GP referred us.
Im also 29, happy to chat over pm if you'd like.

My cousin and auntie both have neurofibromatosis.

My cousin doesn't have any growths, just the coffee au lait marks. He does have special needs though and in his late 30s still bedwets. He was also poorly as a baby but has massively exceeded expectations and is independent albeit we'll always look after him.

His mum has no special needs but does have skeletal problems and is covered in bumps and growths. The main worry for both of them is the occurrence of internal tumours as there are higher incidences of certain cancers in people who have NF.

@MoiraRose1 I have Nf1 and given there is the option to have preimplantation diagnosis, it would be highly irresponsible to just go for it and see how it goes.
Nf1 is highly unpredictable, with a very high rate of lifetime risk of cancer (60%) , especially in the first decades of life, and f course with the added issues of the cutaneous and plexiform neurofibromas.

Before making this decision, you should educate yourself on NF1, with the recent - not 20 years old- knowledge we have about it now.
Start here www.ncbi.nlm.nih.gov/pmc/articles/PMC6998847/

Pubmed is your source of choice, since most website still have old data. You need to know that between research and change of protocol/ guideline there is a 20 year gap.

Your ignorance about Nf1 is no fault of yours. The care for adults with nf1 is shockingly poor, that's why, your DH should take his care into his hands.
There is an NF1 community on Inspire
www.inspire.com
and other groups here:

www.reddit.com/r/neurofibromatosis/
www.facebook.com/groups/FacesOfNeurofibromatosis/

A friend I made through Nf community has a baby girl , well she is 15 months now, and she has tibial dysplasia, which means,, her leg bone is like marshmallow, and will bend and break. She already had surgery and will probably end up having an amputation. In the meantime, the girl has to be very careful, wear braces and must at all cost avoid any bump, so no park, no running, jumping and even tripping in her own home could precipitate the need of amputation.
Some have terribly disfiguring tumours. You might know Adam Pearson and this short video can show you how identical twins had a very different development of their nf. www.theatlantic.com/video/index/585814/pearson-twins/

You and your Dh must make an appointment at the Nf1 clinic and request an appointment for a genetic consult, talk to a genetic counsellor about the options to select healthy embryos, and try to get both an update on the challenges NF1 brings to adults and children.

You said your friend is a genetic counsellor. Don't seem she is a very well informed one.