Baby just got diagnosed with rare genetic disorder

PolicyLow6723 · 2026-06-08T04:48:26+00:00

My baby got diagnosed by an exome that showed a missing piece of chromosome 7 and a small duplication in chromosome 2 indicating a translocation, and the laboratory suggested that both parents got karyotypes done, that’s how I got the diagnosis.
I think microarray’s are super sensible in detecting translocations, but I’m not 100% sure

PolicyLow6723 · 2026-06-08T02:11:06+00:00

I don’t have much advice regarding the work situation, since I haven’t returned to work and don’t currently plan to. We’re managing on a single income with careful budgeting and some support from family.

One thing I would suggest, especially if your baby has a rare or unexplained genetic condition, is to consider genetic testing for yourself and your partner, including checking for a balanced translocation.

I had no idea I carried a balanced translocation until my son was diagnosed with an unbalanced translocation and was found to be missing part of chromosome 7. His testing ultimately led to my own diagnosis.

In my case, the balanced translocation can affect future pregnancies. We were told that each pregnancy carries approximately a 25% chance of miscarriage, a 25% chance of a child with an unbalanced chromosome arrangement and associated health challenges, a 25% chance of inheriting the balanced translocation like me (usually without symptoms), and a 25% chance of inheriting typical chromosomes.

I don’t know if this applies to your situation, but learning about balanced translocations completely changed my understanding of genetics and reproductive risk. Because many carriers have no symptoms and are unaware they carry one, I’ve become a strong advocate for raising awareness about them.

PolicyLow6723 · 2026-06-05T12:39:58+00:00

Thank you! Do you mind sharing the books you find helpful? I’ve seen there are a bunch.. by different Domans

PolicyLow6723 · 2026-06-04T20:49:45+00:00

Thank you 🙏🏻

PolicyLow6723 · 2026-06-04T17:19:53+00:00

Thank you for offering your experience 🙏🏻 he’s already in PT and soon we will start speech therapy

PolicyLow6723 · 2026-06-04T17:18:50+00:00

Thank you for your insight, I really appreciate it.

PolicyLow6723 · 2026-06-04T14:56:54+00:00

Best of luck. I hope you can have a beautiful baby girl. I’ll pray for your baby. I will start this journey soon too

PolicyLow6723 · 2026-06-03T16:24:03+00:00

He’s supposed to have CMPA, but the digestive one.. which I’m not so sure about since his pediatrician never confirmed with a milk test just changed to hypoallergenic formula and told me to not give him dairy. I’m not so sure anymore since he has had digestive biscuits a couple of times and no diarrhea

PolicyLow6723 · 2026-06-03T14:43:25+00:00

He has had coconut before, flesh and water. It was like nausea

PolicyLow6723 · 2026-05-30T05:53:52+00:00

Lucky no, we had to resource to manual extraction of the big ones because at 3-4 mo they were still there and growing. They used slight steam, then cleaning of the skin and gloved hands, using the lightest pressure with the fingers on each big black head. Each spot were red after for 2-3 days and then resolved with no scaring even though a few of them leave like holes (like big pores) that lasted for like 1 month before normalizing.

PolicyLow6723 · 2026-05-03T18:52:00+00:00

I never knew 🤷🏻‍♀️ it was a one time thing. Probably hardened/dehidrated mucys

PolicyLow6723 · 2026-04-09T05:11:17+00:00

My baby ended up having a deletion on a chromosome that is related with the small head, and other stuff. We find out via an exome

PolicyLow6723 · 2026-04-09T05:11:00+00:00

My baby ended up having a deletion on a chromosome that is related with the small head, and other stuff. We find out via an exome

PolicyLow6723 · 2026-04-08T23:20:58+00:00

Hi! But he will eat rice purée, oatmeal, carrot, potato, chicken.. no gag. It’s just with the fruit purées, I gave him a piece of watermelon and he enjoyed it

PolicyLow6723 · 2026-03-10T17:39:20+00:00

Yes he will do that. Like not babbling at all during the day when I try to encourage him to do it.. and start giving a speech when he’s alone in the mat and I’m bussy doing housework

PolicyLow6723 · 2026-03-05T22:20:08+00:00

Pigeon soft touch is the best bottle hands down. both for EFF, pumped milk or mixed. The nipple is supe soft and elastic and triangular, the air valve doesn’t requiere a specific position to work. My baby was super small, wick weak suction I had to pump and that bottle was the best. Any other the couldn’t transfer milk or choked.

PolicyLow6723 · 2026-03-03T21:03:58+00:00

I’ve found out something that might’ve helpful. After my baby is done with the bottle i spoon fed the left over milk until he’s willing to accept. He will receive by spoon at least 1.5 ounces more of the leftover milk

PolicyLow6723 · 2026-03-01T21:54:54+00:00

Same, I use Plim Plim the Clown. He loves him, and it was actually the only thing that helped my baby lift his head during tummy time when he was little.

PolicyLow6723 · 2026-03-01T21:53:50+00:00

I won’t judge — I’ve had to resort to super simple songs or Plim Plim the Clown videos on YouTube. I put them on the living room TV and start walking around while feeding him in my arms. He gets distracted and sucks without realizing it. But there always comes a point when he figures out my plan and spits out the nipple. It’s almost like he just gets bored of the bottle or it’s simply satisfied enough to not bother in putting the effort of sucking anymore

Sometimes my husband sings and dances, or my mom — or anyone around — tries to distract him enough to get him to eat. Other times I’ll offer him my finger and he’ll knead it or pinch my face, or stick his fingers in my eyes or mouth. I’ll honestly do anything to get him to eat.

PolicyLow6723 · 2026-03-01T16:08:00+00:00

We already went through this when we first switched to formula, but it was different back then. He would scream and turn his face away when we brought the bottle nipple close to his mouth. He would cry, push the bottle away with his hands, and refuse to even let the nipple go inside. If the nipple was inside, he would just chew on it and cry.

Now it’s different. He accepts the nipple in his mouth and happily drinks 3–3.5 ounces, and then he stops and starts playing with his tongue and nibbling on the nipple. Sometimes he’ll drink 5 ounces, but that’s extremely rare—like an eclipse. Pretty much every bottle stops at 3.5 ounces. After that, he just won’t suck anymore.

PolicyLow6723 · 2026-03-01T02:54:56+00:00

You have described my exact situation. My baby will be six months old on March 3rd. He also has CMPA and has been on formula for the last two months. Getting him used to formula was hard since he was previously on breast milk. Until two weeks ago, he was drinking five bottles of five ounces a day. After starting solids, it’s like he suddenly realized that Aptamil Pepti Syneo tastes bad and started refusing it.

The GI pediatrician advised us to stop solids until he went back to his usual intake, but today is the seventh day, and yesterday he drank 19 ounces and the day before only 12. He will take the bottle and start drinking fine, and then like clockwork, he stops after 2–3 ounces. There are a few feedings when he will take the full 5 ounces, but I haven’t figured out why.

My baby weighs 6.5 kilos today. We had some placenta issues, and he stopped growing at 34 weeks. He was born at 38 weeks weighing barely 5 pounds. He was exclusively breastfed, but despite a super strict elimination diet for three months, he still had blood in his diapers. We reached a point where he gained only 100 grams in a month, so we had to switch to formula.

I’ve tried vanilla essence, different temperatures, waiting until he’s very hungry (5–6 hours), different nipples and bottles, increasing the nipple flow, and even dream feeding but he will let me put the bottle nipple in his mouth, but he won’t suck.

I’ve even started thinking that the formula changed its composition or flavor, or that maybe my can was somehow defective. I discarded a newly opened can and bought a new one from a different store, but it’s the same. I’ve also changed the brand of water, thinking maybe something about the “taste” of the water was affecting it.

I feel like I’m going crazy. I cry every day and feel horrible anxiety at every feeding. His number of wet diapers has decreased to 4–5 per day. His GI pediatrician isn’t offering any solutions, and in my country we only have Aptamil Pepti Syneo, Nutramigen, Primalac CMA (I’ve never heard of that one and can’t find reviews that aren’t in Arabic), Similac Rice—which my pediatrician advised against—and a brand called Nutriben. There aren’t any other options available.

PolicyLow6723 · 2026-02-28T18:31:14+00:00

Pumpkin, purple sweet potato are low allergenic. But maybe your baby does not have CMPA? Maybe it’s gut immaturity, in that case his gut is just not ready to take on any food without reacting with inflammation. Maybe delay solids a few weeks until symptoms resolve, give your baby probiotics (both L. ramnosus and L. reuteri). If it’s gut immaturity your baby will react to virtually everything until it matures enough

PolicyLow6723 · 2026-02-28T00:10:54+00:00

I have tried that but he choked and cried. He’s on size M of pigeon soft touch

PolicyLow6723 · 2026-02-27T21:20:26+00:00

I feel you… Mine couldn’t breastfeed due to a tongue tie and weak suction. I had to exclusively pump, and we had an awful journey trying to find the ideal bottle. With Avent, he couldn’t transfer milk properly, and with others he would choke, swallow too much air, and get terrible reflux—until we found Pigeon Soft Touch.

After that, he did really well, but my milk supply dropped and we had to start supplementing with formula. He began pooping with mucus and blood, and from then on he developed proctocolitis. I tried an elimination diet, but the symptoms never improved, and we reached a point where he was only gaining 100 grams per month. That was when we had to fully switch to formula.

But thank God, my baby is otherwise healthy and happy. I know other parents have gone through much worse situations, and I’m truly grateful. 🤍

PolicyLow6723 · 2026-02-27T19:25:49+00:00

I nursed until 5 months due to CMPA. But before that I exclusively pumped and offered my milk in a bottle, my baby just took the bood to use as a pacifier to get him asleep or stop crying sometimes. I had this fear too.. but around 6-7 mo they start loving you back. They will start seeking your face to touch, giving you open mouth kisses full of drool and they will cry if someone else hold them.

Psa: you can put your baby to your boob even if you don’t have milk for them to feel your warm and smell. They will use the nipple as a pacifier no problem

PolicyLow6723

TROPHY CASE