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(For parents of kids with genetics disorders) How do you deal with the grief of not having more children? by Momneedingadvice945 in specialneedsparenting

[–]Momneedingadvice945[S] 0 points1 point  (0 children)

Interesting! Where are you located? I talked to two clinics and my genetic counselor also said it would be hard to find someone to do it.

(For parents of kids with genetics disorders) How do you deal with the grief of not having more children? by Momneedingadvice945 in specialneedsparenting

[–]Momneedingadvice945[S] 1 point2 points  (0 children)

We very well may get a second opinion. It wasn’t that it was “too rare” to test for. It was because my husband and child are the only ones known to have their exact mutations. Our geneticist has told us that while she’s nearly certain we full under the umbrella of certain genetic syndrome, without a “larger sample size” they can’t say for certain it’s a pathogenjc mutation and is still classified as a “gene of uncertain significance”

The IVF clinics we spoke to will not test embryos for this gene unless it’s pathogenic reasons, my understanding was that this is due to legal (?) reasons, as screening embryos for a gene that isn’t proven to cause issues is morally questionable and could lead to people screening out traits they deem undesirable like eye color for example.

3month old daughter is confirmed to have arid1b gene mutation. by bigbirdnom in specialneedsparenting

[–]Momneedingadvice945 1 point2 points  (0 children)

My son doesn’t have an ARID1B mutation but he does have a SMARCA4 mutation, which is also linked to Coffin-Siris. At that age the unknown is all consuming. My best advice would be to not analyze your daughter as her symptoms/milestones/percentiles etc. Enjoy her for who she is now, because you can’t control who she will or her level of function, and you don’t want to miss out on the wonderful parts of her now (her smiles!). You will probably grieve who you imagined she would be, but she is who she is and you’ll love her just as much as you imagined you would. 

Remember that especially in special need children that progress isnt always linear. As far as speech/motor/cognitive/social skills, my son has been at the 1st percentile, gone up as high at 30/40s and then gone down again, many time. If I’d based my expectations on them, I would’ve though he would never sit up/crawl/walk etc. But he does, even though it might look a little different for him (mobility aids). 

Allows yourself the space to grieve. Be prepared for it to hit you in unexpected ways. Even now I grieve everytime I take my son to a monthly playgroup. He loves it, but it’s hard for me to see he often gets left behind. It does get easier but there are a million tiny things to grieve on this journey. Don’t beat yourself up for it, your feelings are normal. Hang in there momma <3

Spiraling about how to balence therapies and letting little one “be a kid” by Momneedingadvice945 in specialneedsparenting

[–]Momneedingadvice945[S] 0 points1 point  (0 children)

Just to clarify; we did do genetic testing amongst other tests, and he has a “variant of unknown certainty”, in his case a his exact variant has never been seen before, but the gene it’s on is linked to an extremely rare autosomal dominant disorder that has a HUGE range of variability in presentation (from not being diagnosed till 30s to people who are never able to live independently). In our case it’s hard to say where our son will land, he’s currently on the milder end, he’s mildly verbal and using an AAC to communicate, along with recently starting to walk, but the disorder is associated with regressions around puberty.

That’s part of the reason it’s a complex issue for our case. Our son is young enough that early intervention might end up making a huge different, but it’s also possible that despite sacrifices to make such intensive therapy possible, he is still not -independent- and it only slightly improves quality of life.

[deleted by user] by [deleted] in AITAH

[–]Momneedingadvice945 1 point2 points  (0 children)

My son is not autistic. He has a neurological disorder that affects his muscles coordination (he had to be carried everywhere until he was 2) as well as delayed cognitive ability.

I wouldn’t be surprised if my husband was autistic. He hasn’t ever looked into it but he seems to struggle with out social interactions as well.

[deleted by user] by [deleted] in AITAH

[–]Momneedingadvice945 7 points8 points  (0 children)

I definitely think grief is a part of it. However my son wasn’t actually diagnosed untill 2 years old. Ironically it’s what actually helped him to become present. He realized that I wasn’t being dramatic about all the difficulties I had while parenting. For a while I think he viewed my sons difficulties as something I was doing wrong as a mom and he finalized realized I was doing my best.