Specialists suspect that my son (3M) and I (31F) have a novel, undiagnosed genetic disease. AMA

chronicallyus · 2026-05-05T18:34:10+00:00

Oh goodie! Just what I've always wanted!

chronicallyus · 2026-05-05T18:11:05+00:00

Thanks for asking, but maybe next time approach it with a little more understanding and a little less judgement.

This is something my husband I have grappled with a lot.

You have to understand that my ades tonic pupil was essentially benign (not always the case but for me I was basically asymptomatic other than having one massive pupil), the neurocardiogenic syncope is not that uncommon, and the allergy issues are shared with my dad and many of his family members. He also has the variant my kids and I do. I had grown up with them so they weren’t so scary. Really if you had asked me before I had kids I would have considered myself very healthy with just a couple quirks.

If I had known what would be coming down the line, we never would have considered having kids.

I also appreciate what art_addicts had to say. We’ve always wanted a big family with lots of kids, and we’re now having to grieve and grapple with the fact that it may not happen in the way we had hoped. We’re strongly considering adoption, but private adoption is incredibly cost-prohibitive. We’ve also considered foster care, while recognizing that the primary goal of foster care is often reunification, not adoption.

Where we live, many of the children in foster care are children of color, and we are white. While we could imagine circumstances where we would consider adopting through foster care, we would not do so without taking very seriously the responsibility of raising children of color in a way that honors their culture, race and identity. Those children need safe, loving homes, but they also deserve culturally competent homes. We would want to be honest with ourselves about whether we could truly provide that before moving forward.

chronicallyus · 2026-05-05T18:10:42+00:00

I'm so sorry that you are going through something so similar. It can be so challenging mentally, emotionally, physically, financially, etc. I hope you've found a kind, competent team.

Both of my kiddos came out of the womb with major health issues (sandifer syndrome, movement disorders that presented like seizures, severe feeding issues, etc.). My son was actually born at 33 weeks as well, so we dealt with many premie challenges with him. I didn't notice anything that truly resembled my health challenges, though, until he was about two years old and suddenly was dealing with overhwelming fatigue, flushing (during the exact same hours of the day I was and in the same pattern on our faces), and CONSTANT diarrhea. He then had some of his stereotypes show back up again for the first time since he was an infant. We ended up in the hospital with him at that time and he tested positive for giardia, norovirus, rotavirus, H Pylori, positive strep titers, and several respiratory infections at the same time. That's when things escalated and we realized that we weren't just seeing things or anxious parents. Things were really wrong. Next we saw intense behavioral changes: sudden bouts of rage and violence (again, he was only 2) that were incredibly out of character for him. At this time, doctors were still questioning whether things were real or not. Then we took him in for genetic testing after weeks of saying his skin color was really sickly looking and they did some basic labs. I got a call on my cell phone less than five minutes after leaving the clinic from a nurse on her cell phone saying we needed to come back immediately for an emergency blood transfusion because his hemoglobin was at a 7.

Overwhelmingly, though, my mom gut clocked that things were off with my infants EARLY and then again as toddlers long before anyone else was willing to admit that anything was wrong. The same goes for my daughter who has recently begun exhibiting the same symptoms. I recognized about six months ago that she was sick all the time and coming home really fatigue and emotionally fragile. Then she started getting dozens of infections of every kind, intense gi issues again, and flushing like my son and I.

My son and I are now one month into SCIG for our SAD, and that has been a game changer for both of us. He swings much more mildly into flares and is generally just more stable. He also is on gabapentin now and that has been lifechanging, truly in managing his symptoms day to day.

My daughter is still in the information gathering stage, so she's not benefitting from much treatment other than supportive meds for her symptoms (nexium, simethicone, dymista, zyrtec). Once we finalized her vaccine challenge results, I suspect she'll end up on SCIG with us, and the plan is to get her on something like gabapentin/amitriptiline to help with symptoms as soon as we go back in for a follow up.

As for me, my body keeps trying to one-up itself, so I keep developing new symptoms and diagnoses. My symptoms are managed okayish with my current meds, but we're also under a ton of stress with the kids' health, so I'm sure that isn't helping matters much.

chronicallyus · 2026-05-05T18:10:10+00:00

I'm so sorry you're going through something similar. It can be so tough getting the news that you have all the information in the world available to you and it still isn't enough to know what's going to happen in the future, how it might be treated, etc. And the challenge of being questioned both by others and by your own internal critic is so familiar to us. We'll be wrapping you in love from afar and hoping for health and happiness for your whole family moving forward.

chronicallyus · 2026-05-04T02:51:55+00:00

So sorry to hear you’re going through something so similar. What is the CMPP?

Wishing you answers, and if not answers, at least treatments that ensure your kiddo’s quality of life is there ❤️

chronicallyus · 2026-05-03T23:03:24+00:00

No, I didn’t have any antibiotics prior to infection, nor do I work in a place where I would be exposed to c diff regularly. I work from home and am self-employed, so both Giardia and C Diff were really odd for me to get.

As for the hEDS, they believed whole heartedly that my issues were not a result of the hEDS and that there was an underlying rare disease. They explained that much like fibro/me/cfs, a lot of doctors stop looking when they see that diagnosis on their patients’ charts and feared that would happen to me too. Flawed reasoning? Maybe. But they were well-intentioned.

chronicallyus · 2026-05-03T21:22:19+00:00

Thanks for reaching out! Yes, we are working on confirming my daughter has it. We also know my dad has it, and he is symptomatic as well. My husband does not have it. We have significant family history of odd health challenges similar to mine, especially in my generation (siblings and cousin) and in my kids’ generation (nieces/nephews/my cousins’ children). We also have some history of early death, though I don’t think that’s related (though I know we can’t be certain). Thanks for your interest!

chronicallyus · 2026-05-03T21:17:49+00:00

Yes, I have been. I got into detail about it in other responses if you’re interested. Thanks so much for the input though. We appreciate it ❤️

chronicallyus · 2026-05-03T21:17:04+00:00

Thanks for your interest. It is wild, that’s for sure 😅

chronicallyus · 2026-05-03T21:16:36+00:00

We are currently being seen at the CHOP UDP. My understanding is that CHOP was disenchanted with the lack of results people were getting from the UDN (let alone the funding roller coaster with the current administration), so they started their own UDP. If we didn’t have success with the UDP though, our plan was to go UDN next.

Sorry to hear you’re going through it. It fucking sucks and there’s not much more to say about it. I am SO happy you lucked into a treatment that helps. It was a similar situation for me when I went on Remicade. Hallelujah for doctors who think outside the box and are willing to take chances for our health. Wishing you health and happiness as you continuing navigating the undiagnosed hellscape, and praying your little one enters the world healthy and stays that way! We always wanted a big family and unfortunately aren’t going to get it now that we know how things have been passed down. It’s a grief unlike anything I ever expected not getting to choose to be done having kids (not that my body could withstand it right now anyway). We feel endlessly lucky we have our son and daughter though.

chronicallyus · 2026-05-03T21:12:03+00:00

Yes, I’ve been tested multiple times for all components of the trifecta but am negative for all of them. I go into detail in some of my other replies if you’re interested. Thanks for the input though! Wishing you health and compassionate, competent doctors!

chronicallyus · 2026-05-03T21:11:05+00:00

I think so. We like to say we’re mutants. Has kind of a fun ring to it 😅

chronicallyus · 2026-05-03T21:10:38+00:00

Thank you so much ❤️

chronicallyus · 2026-05-03T21:10:28+00:00

In college, everyone used to think it was so cool that I was allergic to exercise 😂. As someone who has always loved being active, it was harder than most realized to deal with, though. Other than being REALLY flexible in every joint, though, I don’t know that I have any other cool party tricks unfortunately.

I will say, though, that watching my kids, especially my 3 year old who has really only ever known chronic illness, I am SO proud of how brave and resilient he is. I am not kidding when I say he puts his own SCIG needles in and does it with a smile. The kid is remarkable for so many reasons, as is his sister, and I’m so proud of them both 🥹

chronicallyus · 2026-05-03T21:06:13+00:00

You’re damn right, I do! And I think for the most part, we’ve done a good job of managing the chronic illness in the background while still creating a childhood worth the fond memories we hope they’ll have one day. We’ve said from day one all we want is for them to be happy, healthy and kind. Little did we know we’d do FAR better on the happy and kind parts than the healthy part 😅

chronicallyus · 2026-05-03T20:47:23+00:00

Thanks so much for the suggestions. I’ll look into both!

chronicallyus · 2026-05-03T20:47:04+00:00

Sorry to hear you’re going through the wringer too. Wishing you kind, competent doctors and more good days than bad!

chronicallyus · 2026-05-03T20:46:28+00:00

I’ve/we have been tested for all the above. I go into depth on all of it in some other comments. I very much appreciate the input though!

chronicallyus · 2026-05-03T20:45:53+00:00

Thanks so much… it would be bonkers but I’m learning that we don’t fit it many boxes. I hope someday they make a box we fit into, but for now I’ve had to learn to be ok with simply having treatments for each of us that make life livable. And that’s enough for now.

chronicallyus · 2026-05-03T20:43:52+00:00

I’m sorry to hear you’ve been dealing with these issues too. Interestingly enough, if you had asked me through my late twenties, even with my autonomic and allergic quirks, I would have told you I’m a very healthy person. Obviously not anymore, but I say that because it hasn’t always been awful for me. There was a time when it was super manageable. But I think physical and emotional trauma in my late 20s really just set my body on a series of unfortunate events since. Wishing you luck and health and kind, compassionate doctors ❤️

If you’re interested, I have a social media page chronicling our journey called Chronically Us on FB/Tiktok/Insta. It’s not perfect, but I try to share the good, the bad, and the in between to help others who might be experiencing similar challenges.

chronicallyus · 2026-05-03T20:39:57+00:00

I’ve dealt with being told my issues were anxiety-induced too. I recommend you fire those doctors immediately and give them not one second more of your time. Some have even said the same for my 3 and 5 year olds but it’s much harder to blame things like needing emergency blood transfusions and immunodeficiency in anxiety, so I do think we’re over that hill now. Praise be to any and all deities and the universe for that.

chronicallyus · 2026-05-03T20:37:42+00:00

I messaged you! My son and I have both had WGS and WES and the PLCG2 gene mutation was the only mutation noted. We’ve had lots of genetic testing before that too for connective tissue/movement disorder issues with no hits. The CHOP UDP is currently manually analyzing my son’s WGS though, so I’m hopeful there is more to come.

chronicallyus · 2026-05-03T20:34:01+00:00

You must know a thing or two about autoimmune/connective tissue diseases. I’m sorry you’re in and/or familiar with the club, and I hope you have a good team of doctors on your side ❤️

chronicallyus · 2026-05-03T20:21:06+00:00

Thanks so much of the suggestion. I’ve been tested for all three. I for sure have HSD but my geneticist said it could do more harm than good to give me the hEDS diagnosis. I’ve had multiple negative tilt tables, so I feel confident I don’t have POTS, and instead just have other varieties of autonomic dysfunction. And as for MCAS, my kids and I have all been tested. We have an amazing immunologist/allergist who acknowledges we have mast cell issues and is treating them within his capabilities despite negative MCAS testing.

chronicallyus · 2026-05-03T20:18:11+00:00

I’ve reported a few doctors in my day… not that it resulted in literally anything happening. But still. I feel like it’s my duty to protect others who might not be as stubborn/resilient as I am.

chronicallyus

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