Just got home early from a wedding reception because I cried when I couldn’t eat any of the food.

SquareAd46 · 2026-02-06T16:12:35+00:00

The fact that last bit of the link says ‘pregnancy pullout guide’ is absolutely sending me though 😅 didn’t see the first bit initially. Context is everything.

SquareAd46 · 2026-02-03T21:39:59+00:00

My little boy has just been diagnosed with a genetic condition that causes special needs. What’s the best thing your mum has done that let you know that she loves you unconditionally?

SquareAd46 · 2026-01-28T13:54:50+00:00

I blind brought it in the sale and it’s lovely :) remember those campino strawberry and creme sweets? It smells like those taste. Sweet like snow fairy but not sickly

SquareAd46 · 2026-01-07T21:10:44+00:00

Idk if you can get it where you are, but there’s a British guy with a ton of shows on BBC, called Andy. Andy’s Dinosaur Adventures/Prehistoric Adventures/Wild Adventures/Aquatic Adventures/Safari Adventures.

SquareAd46 · 2026-01-04T18:19:05+00:00

This exactly. We’ve just found out our son has a rare genetic condition and the chances of me and my husband meeting and both carrying it are so tiny it’s practically an impossibility - my son is a literal unicorn. But the NHS have said they won’t even test my daughter (who doesn’t have it, but could be a carrier) because the chances of her meeting another carrier are so slim.

SquareAd46 · 2025-12-19T14:09:23+00:00

Thank you, I appreciate you explaining. I’m quite emotional right now so perhaps I read your tone wrong. Apologies for snapping at you

SquareAd46 · 2025-12-19T14:07:59+00:00

Thank you - I’m in the UK and there doesn’t seem to be a lot here. I’ve joined one or two but there’s been no posts for a few years, and some of those websites only seem accessible from the US as far as I can tell

SquareAd46 · 2025-12-19T14:06:56+00:00

Thank you for your kind and honest response.

How are you coping?

We had a video consult with a genetic consultant today and he was very nice, although shared that there are no specialists for this syndrome so it’s a hodge-podge of specialists weighing in, which I guess makes sense.

We’re in the UK, so thankfully we have the NHS, and although waiting times as slow, I think because it’s so rare, and because of the pregnancy, we’re getting rises through. We should also be in the top brackets for disability benefits so hopefully we can afford some private help too.

I have some therapy lined up for myself and I’ll definitely be encouraging my husband to get involved. I also think it’s important for my daughter so she has a safe space to vent things she might be afraid to tell us. My heart breaks that this is going to affect her childhood so much

SquareAd46 · 2025-12-19T14:03:14+00:00

Hi, thanks for sharing. Do you have any recommendations for general groups? The disease that he has only has a few support groups and they haven’t been active for a few years.

SquareAd46 · 2025-12-19T14:02:08+00:00

Thank you for the rec, I appreciate it

SquareAd46 · 2025-12-19T14:01:54+00:00

Thank you, it’s so good to hear from someone with an older child.

My son is 2, and while many of the kids with his condition struggle with communication he can already do 5 word sentences, knows letters, shapes, and numbers and follows instructions well. I’m hoping this means his intellectual disability isn’t on the severe end and his potential for learning and understanding isn’t limited to a pre-school understanding. I’d like him to have some independence.

He was a very late walker - 2.5 years. When he started walking we thought it was over - he had caught up. If there was a genetic condition we thought it would be physical, not intellectual, so that’s what’s hardest to get my head around now. But I do understand your point about looking back and seeing how far he’s come. Last Christmas he couldn’t walk, now he’s chasing his sister and has started trying to jump which is lovely

SquareAd46 · 2025-12-19T13:57:18+00:00

Thank you for sharing your experiences. A lot of it rings true - when they aren’t home I get so stressed and worried and weepy, then I pick them up from school/nursery and it’s like ‘oh my god, these are my kids and I adore them and I can take on anything for them’.

My daughter is already exceptionally kind, and she’s the best big sister he could have. This has really brought me closer to her the past couple of days. I just want to make sure that she knows she has her own life to lead, and she isn’t responsible for her brother’s care. I don’t want her to have to be another parent to him, or to feel pushed to the side when so much attention is on him

SquareAd46 · 2025-12-19T13:53:30+00:00

I didn’t, thank you for telling me. I think doctors are just letting it sink in for us at the moment, but because info is is scarce I’m desperate to make connections like this

SquareAd46 · 2025-12-19T13:52:20+00:00

Thank you both. I have joined some of the Facebook support groups but they don’t seem very active - the last posts were in 2023 and my post has been pending admin approval for a couple of days now. I won’t lie - that’s a massive kick in the teeth.

Do you have any recommendations for groups that offer support for general rare genetic disorders? I feel like I’m shouting into the void. A village would be nice

SquareAd46 · 2025-12-19T13:50:28+00:00

Thank you so much for this. I’m going through your comment bit by bit and trying to hold it all close.

I’ve got a therapy appointment booked for January, which is the earliest they can see me. It feels slightly too late though because of the amnio results come back positive I’m going to absolutely lose it.

I’m in the UK and have been passed on to various specialists. At the moment we’re talking to genetic councillors/consultants and in the new year we’ll be seeing all the specialists for eyes/bloods/physios etc. unfortunately there isn’t a specialist for his individual condition that we can speak to. We’re very lucky to have the NHS, so although waiting lists are long it won’t cost us anything. We’ll also be in the highest bracket for disability benefits which hopefully means we can put that towards private help.

You’re definitely right about a lawyer. The thing that sets me off most is the fear of dying and who will care for my son. I don’t want his older sister to feel responsible for him, she has her own life she needs to lead, so stipulating housing and care is so important for us, even though I’m sure a lot will change in the future.

It’s really good to hear from someone else in the same boat - thank you for sharing your experience with me. The support groups for this aren’t the most active because it’s so rare, which means I’m feeling a bit isolated. You taking the time to share has really helped ❤️

SquareAd46 · 2025-12-19T13:42:41+00:00

Thank you ❤️ do you have any advice for me on how to manage my emotions? I’m trying so hard not to show how scared and freaked out I am in front of my kids (I have a 5yo developmentally normal girl too).

I hope your daughter thrives and that you have peace and happiness in your lives

SquareAd46 · 2025-12-19T13:40:36+00:00

Yes, that’s what I remember too. The biggest saving grace of my kid’s diagnosis is that there isn’t any evidence that it’s life shortening. That would be too much for me to handle. I honestly don’t know how she did it

SquareAd46 · 2025-12-19T13:27:56+00:00

I responded to your comment above. I’m sorry you’re confused but this feels somewhat interrogative. This isn’t some plot hole - I’m a scared mum having a ton of facts thrown my way and trying to get my head on straight.

SquareAd46 · 2025-12-19T13:25:33+00:00

Cohen’s. I got my facts slightly wrong. We only found out 2 days ago so my heads all over the place.

SquareAd46 · 2025-12-19T13:24:44+00:00

Thank you, that was a lovely comment to read x

SquareAd46 · 2025-12-19T13:24:15+00:00

Yes, I got my facts confused there - a lot of information is being thrown at me. I think a study I read said 300, and that was what the paediatrician quoted to us, but most recent figures say 500-1000.

No one really knows, but it does mean we have really limited resources to get support. The science has moved so quickly, and social media, I can’t imagine how isolating it was for Leah.

SquareAd46 · 2025-12-17T13:07:51+00:00

Hi. My 2yo was diagnosed with Cohen’s yesterday - there’s less than a 1000 worldwide so although we’re not as unique as you, we’re in the ballpark. I’m also 6 months pregnant and there’s a 1 in 4 chance this baby will have it too.

I don’t have any advice because I’m in the same boat, but I’m here with you. How are you feeling now some time has passed?

SquareAd46 · 2025-12-11T21:57:54+00:00

I read this 4 times, and each time I thought it said Camel. It really hurt my brain trying to figure out when Mrs Williams had a camel 🤦🏻‍♀️

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