Dd diagnosed with life altering genetic condition

[duckling3]

My daughter has just been diagnosed with a very rare genetic condition that will impact her day to day life, will impact our family life and comes with significantly increased risk of childhood cancers

Shes only a few months old and I’m really struggling with the diagnosis. I’m also aware that because it’s genetic and inherited from my husband and I (who didn’t know we were carriers) there is a chance that my other children have the same condition but they are currently not tested.

we only found out a couple weeks ago and feels like I’m experiencing grief ? It’s just so sad for the life she and we as a family have to accept won’t look like we expected. I’m scared that we will have to constantly check her for signs of cancer and that ultimately we may lose her.

im unlikely to find anyone with the same condition as I’ve been told it’s incredibly rare, but wondering if there are any other parents on here who also have been through their child being diagnosed with something life altering and how they found it. I guess I’m hoping to hear that life will eventually feel more normal and some of the strong feelings of grief and fear will calm down with time.

or just any advise on things that might help to get through this time

That's awful, is there a support group you can speak to.

Personally I'd try and treat her as normal as far as possible. None of us know how long we have or how long our children and loved ones have. All we can do is make the most of what time we have.

If you have other children try not to over prioritise her at the expense of the others.

So basically love your children while you have them.

Not quite the same but ds9 was diagnosed with type one diabetes two years back. It was massively life altering and it can kill him at any possible moment if not monitored extremely closely only takes one bad decision.
two years on, we just get on with it now. Its become normal. Always in the back of my mind what if x, y and z happens and I always have plenty of petrol in the car if I need to take him urgently to hostipal. But you do learn to live with these things.
So sorry for your daughters diagonsis. maybe look on facebook disability groups you may find another family with a similar diagnosis or the same x

There are MNers with children who have NF1, which has some similiarities to what OP describes in her child.

One of my cousins just had a young child diagnosed with a rare chromosome problem that is a lot like Downs Syndrome. I believe she's taking a one day at a time perspective.

Yes my son had a very rare genetic condition. Our experience was slightly different because it was clear from a few days old that he had lots of medical problems so by the time they diagnosed his syndrome at around age 1, it didn’t come as a big surprise. You are probably in shock which is totally understandable.

Everyone is different but I would say that yes that feeling of grief for the life you thought you would have is normal. Our son’s disorder meant that among other things he had global developmental delay and was non verbal and I did grieve in a sense for the person he would have been if he hadn’t had this genetic “misprint” which is what they called it.

But your child is your child and life goes on and you will come to accept this as your normal. My son’s disorder was also very rare (1 in 100,000) but I found a Facebook group for parents and it was helpful to find other people who understood and could give help and support particularly when most of his doctors had never heard of the syndrome.

Just be kind to yourself.

Hi, sorry for you are going through. My daughter was diagnosed at birth with a very rare genetic condition. It's incredibly tough, and I can relate to how you are feeling. The life we thought we were going to have is not happening. My daughter has had multiple surgeries, ITU admissions and has lots more to come. I felt the same as you in the beginning, you grieve the life you thought you were going to live, and the life you wanted your child to have. I also carry a lot of guilt for the impact it all has on her older sibling.

All that said, it gets better. Your find your own "normal" as a family. My daughter is 9 months old now and she's a smashing little girl. Full of smiles and brings so much love and joy to our family. I won't say her condition doesn't bring It's challenges, as it still does and always will, to her and all of us as a family. But once you get your head round it, it is just normal.

Is your daughter under a specific hospital? My daughter's (extensive) team include psychologists who keep in contact with us regularly. If you can access anything like that, it could be helpful- they've also said they offer help and support for siblings as they get older, too.

My only advise would be take any and all help and support offered to you. I know they get a bashing on here, but my health visitor has been worth her weight in gold to us. She's referred us to services we would have had no idea existed and to baby groups for kids with additional needs which feels easier to take her along to than usual ones.

I don't know your daughter's condition, or how rare it is, my daughter is 1 in about 80,000 births, I think, and we've found a Facebook group - small as it is, about 150 of us, who have kids with the same condition, which has been helpful for feeling less alone. If you can find any charities for your daughter's condition, that might be something else to consider if you wanted any more information or support.

It's crazy in the beginning when you first get a diagnosis, but it does calm down and I promise it does get easier.

Ds has epilepsy- I’ve often felt terrified of the what ifs but day to day we are very lucky- it’s managed well and it could be worse. Sending love to all and your precious dc. It’s not an easy road.

Hi, I never post on here but I couldn’t just scroll by. I’m sorry you’re going through this. It’s not the same, but my daughter was born unexpectedly ill due to an infection. It had spread to her brain and caused abnormalities. I still vividly remember being sat in the NICU as a stone faced doctor told us DD was unlikely to live a typical life and may need lifelong care. It was like a bomb going off in our lives. I also had a 4 year old DD and all I could think about was the impact this was going to have on her.

You will definitely be experiencing grief for the life and child you imagined and that’s okay. Let yourself grieve and feel all the anger, sadness and despair. I was unbearably down after my daughter‘s diagnosis, I could barely look at her and didn’t want to hold her. I felt like I was role-playing being her mum.

Definitely ask your hospital, HV or GP about counselling. This really helped my DH and I realise that we could still create a beautiful and fulfilling life for our family. It may not look how we expected but it is beautiful nonetheless.

Accept any and all help offered. Also, don’t be afraid to ask for help. Most people want to support you during this time but don’t know how - so don’t be afraid to ask! Like a poster above, we have found our HV and hospital team invaluable.

It feels so overwhelming in the beginning, but a year on we are living a happy and content life. My daughter is just my daughter, I don’t know her any differently and she brings us so much joy. She has taught me so much about embracing every moment, unconditional love, interconnectedness, resilience and just ‘being’. I don’t want to go back to the person I was before she was born.

But don’t put pressure on yourself to feel this way right now! It happens with time. The hard truth is none of us know what will happen with ourselves or our children. All we can do is take one moment at a time and make the next right decision. It will get easier, I promise!

Just wanted to add about getting help and support! It feels so isolating in the beginning as not many people have been in the situation you have, and the genetic condition being rare I’m sure we’ll only add to this feeling. But you don’t have to go it alone. People will rally around you. If they haven’t done so already, your hospital or HV might be able to direct you to charities that can help. I believe Unique is a uk based charity that may be a starting point. There’s also Home Start and other children’s charities that should be able to offer support and advice.

Hi there, I have been there with my son. He was diagnosed at eight months with a very rare chromosomal disorder and is now facing a further life-limiting diagnosis.

You've already had some lovely and very helpful posts, so I can't add anything new. However, I can assure you that the grief (and yes, it is grief, and whatever you are feeling is okay to feel!) eventually lifts and things become nearer a new normal. It still hits hard some days and I can't pretend everything will be sunshine and roses in the future, but eventually I found I sort of became numb to the diagnosis and began to enjoy my son for who he is. I would still change the diagnosis if I could, but he is a delight and has a gift for making people love and care for him.

If your child's condition stems from a chromosomal change, I highly recommend Unique. They have many guides, a private Facebook group and the ability to share contact details with families whose children have the exact same deletion or duplication.

Wishing you all the luck x