Baby with rare genetic disorder

[BaronessMachiavelli]

I think I'm just writing to get it off my brain for a few minutes.

Baby is 5 months and was diagnosed with a very rare genetic disorder at two months old, after birth complications led to a prolonged NICU stay and identified some anomalies that ultimately led to them finding this issue. Yesterday they confirmed his prognosis was poor. We've pretty much buried our heads in the sand till now but yesterday was a real slap in the face from reality.

I just don't know how I'm meant to cope. I can't think about it, it's too big. My baby is, so far, doing so well. He does have epilepsy and some feeding difficulties but you wouldn't know there was anything wrong with him. He's home, he's so bright and happy. He's beautiful.

I don't know if he'll still be with me in 2 years, 1 year, or even 6 months. They know so little, they can tell me so little, there is only one other child documented with this condition.

I just feel broken. I don't know how I'm meant to carry on if I lose him.

Doctors keep telling me to enjoy my time with him... With such a huge spectre hanging over us, its almost impossible to feel the joy that we should, becuase it is absolutely tainted by heartache.

I just need someone to tell me it'll all be ok, but they can't.

Hopeful bump

I’m so sorry to hear this. It must be so much to take in. Can they signpost you to any support? My child has a more minor medical condition and I struggled with it until I found parents in similar situations online. Facebook groups were a big help early on.

This must be such a huge thing to come to terms with. I don't have any experience or words of wisdom, but I didn't want your post to go unanswered, even if all I can offer is a handhold.

This is heartbreaking. I’m so sorry.

Oh, love. Such an enormous thing to try to get your head round. Whilst seeing your beautiful precious baby looking relatively well. I am so sorry you are in this position. I hope you can somehow find a way to still find joy in your child, and to make his life as happy as possible. One thought that comes to mind is that some genetic conditions show some variability in impact. As this one is so incredibly rare, it may actually be quite hard to predict the path ahead for you. I hope your little one exceeds all expectations. One thing is clear, however. And that is how much you love him. And that is what babies need above all else: to be loved and cherished. That is something only family truly provide, and can be worth so much more than anything medicine has to offer.

I'm so sorry you are going through this. I can't relate, other than finding out during pregnancy that our baby had a life, limiting condition. DH and I had karyotyping blood tests to see if it was something we could pass onto subsequent children, or a random, one off event.
There might be a family/parent support group. If not in the UK, then likely in the US you could reach out to.
Have they given you details of counsellors or additional support for the future such as a paediatric palliative team if needed?

https://www.rareminds.org/ may be worth a look or other charities/spaces set up to support people with rare conditions as there has been a move and in some cases funding for those with rare conditions to come together for support and research.

I'm so sorry, it must be very hard to come to terms with

This organisation's website may help. They are there to support people with rare diagnoses (and their families). For me, finding other people who have the same condition (or similar ones) has really helped

geneticalliance.org.uk/a-z-members-directory/

Aw pet bless you , I will be praying for you and your son 🙏.. that's alot to process and I can't begin to imagine what your going through. He's doing well you noted and has made it 3 months fighting away since his diagnosis whos not to say he will continue to do so and prove everyone wrong , another postive to all of this is they don't know I know that seems horrific but I mean of they don't know how can they be sure he won't defeat the odds because he might and I know for yourself as a mother that ain't in no way good enough in any shape or form but if can help bring a little hope in all this darkness for you I hope that it does. I recently lost my beautiful baby daughter to what they think is a rare kidney disease i dont know results as of yet but i know how isolating and confusing it can feel with the not knowing anyone to dicuss conditions with for that bit of hope clarity or stress reduction along with the rest of the list, i wish you all the best 💜

Good evening , OP . I am so very sorry to read this .
I underwent an amniocentesis with my last pregnancy as I was 45 years old and felt that there was 'something wrong' . My much longed for daughter had a condition that is incompatible with life , Patau's Syndrome (trisomy 13) .
Hardly a day goes by that I don't think of her . But she was loved so much in her time with me . That was all I could do for her , just love her as much as possible in our brief time together .
It just hurts ; some days it still hurts a lot but mostly the hurt is easing off and i am living with it . All those trite things people say like 'time is a great healer' meant nothing to me at the time , I wanted my baby girl to be well and with me .
One woman really upset me by telling me it was god's plan . I had to hide away for a bit after that just in case she or some other well meaning person said similar .
You will never be the same but you will be all right , one day , when you are ready to be.
Sending love and hope .

I'm so sorry to hear of your news. What I can suggest is looking into the charity "Together for Short Lives" - they have a website and free helpline and can offer all sorts of support and guidance.
You don't have to know your son's prognosis to access - they are for all children with life-threatening or life-limiting conditions, across the UK.

Hi OP, you are really going through it and I am so sorry to read how you are feeling.

Is your little one's condition covered by the charity Unique? They produce a lot of information for rare genetic and chromosomal disorders and you can provide them with a copy of your son's genetics test, which they then use to put you in touch with other families whose children have the same deletion / duplication, all over the world. I have found them helpful. Perhaps you may find other families other than the one your doctors mentioned?

My son has a very rare chromosomal disorder so I can understand a little of what you are going through and I sympathise hugely with the enormity of the feelings. It is a huge grieving process and it is so hard to reconcile fears for the future with the gorgeous child in front of you (and doesn't your boy sound an absolute delight!). The uncertainty is debilitating.

It may not help at all, but a parent with a child with the same condition said to me at the start that the diagnosis was the worst part. Another said my son would bring me joy. At the time I wanted them both to shut up and go away because how could anything ever be okay again. But slowly slowly slowly the joy creeps round the pain ever so slightly. It has taken me ages but it is there and it grows when I am with my boy, regardless of everything that might be coming. I really wish the same for you and I really hope this doesn't come across as patronising, I don't intend it to be.

Wishing you and your family all the best.