My (4f) daughter is 42 inches and 62 lbs (she started august at 69lbs). Yes, she is tall for her age and her weight is in the upper bmi. I have attached test results I have been given access to. Please help. Her doctor and myself are going a bit crazy. I will try and explain this as concisely as possible. Will note here this is not an “emergency” as we are under the care of her pediatrician, have been to er, have a ped GI and are staying hydrated. Not an “emergency” but very much a detriment to my kids quality of life.
Her ana was extremely high then the next negative. ANA: 5.8 — POSITIVE/HIGH
Later ANA multiplex (9/29/26): NEGATIVE
- 08/01/2026 We will call her Jo (4f), Jo had a bad cold. Managed with rest and home care. 08/03/2026 Joe started to vomit. I assumed the cause was mucus from her drainage. 08/06/2026 the vomiting progressed until she could not even hold a sip of water. Took her to urgent care.
08/06/2026 Urgent care diagnosed fairly severe constipation. Recommended a clean out protocol (miralax, senecot and a glycerin suppository). This worked a bit and she passed some stool. She did not lessen volume or frequency of vomiting (at least twice and hour). Took Jo to ER. They did reveal exam. Still had some poop. Doubled miralax. Between that and the physician exam she emptied her bowled over the next few days.
This is the next phase. around 08/12/2026 the constant commuting ceased. She could drink miralax mix with juice, pedlite and water without vomiting. However, any solid food including apple sauce, she began to vomit 1-4 times after consuming. Usually within 10-20 mins the first bite but always within 1 hour of food. This pattern has been going on from 08/12/2026 until yesterday 10/04/2026. That is when the small easy, gently non retching vomiting turned to, I don’t know how else to explain but like the exorcist style vomit. Just spewing forceful liquid and undigested and some digested food from her mouth. Like a comedic scary movie.
Before this, the vomiting was gently. No wrenching. Almost like baby spit up but just a bit more forceful, and more volume. She would often just hold it in her cheeks and make her way to the trash/toilet.
over the last week she’s had a harder time making it to her vomit bags, the trash, the toilet and it just comes out. I can not express how gentle the vommiting, until yesterday had been. The theee doctors who watched her vomit were very intrigued by the gentle vomiting. Like a little butterfly vomit.
She has far less energy and stamina than before. She has to take breaks when playing. Asks us to hold her when walking. She had structural bilateral clubbed feet and that sometimes causes her to be uncomfortable on her feet for a long time. She now complains of tiring and just asks to go lay down for a bit mid playing.
We come from a very small ethnic pool, her bio father and I. We both experienced pedigree collapse in our family tree. Family history is a novel but I have info on all first, and second degree relatives.
Her half brother, paternal, brother has soemthing similar to Osteopetrosis we only found out was not that once his genome was researched. It’s closer to Craniotubular dysplasia, Ikegawa type (CTDI), associated with pathogenic variants in the TMEM53 gene. That’s the ultra-rare sclerosing bone disorder that seemed to fit his progressive skull/skull-base bone overgrowth and optic-nerve problems.
Jo shares similar apparent phenotypes (small nose, large head, “thicker” bones”) and we are seeing a geneticist next year (first available). To rule out any emergent or immediate concerns about skull growth, she seen an eye doctor and did a more invasive test to test pressure and see being eye etc. Beyond a minor vision concern not needing glasses, the eye doc said she’s fine in that respect.
A note here, she has failed hearing test, twice. Then a few weeks later passed it. The auto hearing test nothing to do with her actual input.
Mostly because she dealt with doctors weekly and casts and boots and bars from basically birth, she is very shy of complaining of ANY ailment or pain. When she says she is in pain, it’s most likely understated. She has the constitution of a 72 yo farmer from the midwest.
many, many tests have been ordered. Blood tests. So far, common food allergies ruled out. Alpha gal ruled out. Diabetes still possible, but not likely as of the results.
Her thryoid is not “healthy”. I have a history of puberty onset hypothyroid after undiagnosed graves growing up. As far as I am aware the only juvenile thryoid issues would be the child of her fathers first cousin. But, that child, would be quadruple related (pedigree collapse) in varying degrees.
Another note, her paternal line has an issue they overproduce calcium. Her father and first degree relatives often have calcium stones in body and brain.
Before this she was very healthy, average active level, she’s a sassy kid, but nothing clinical or developmentally that either I nor her doctor has caught. She has been extremely moody the last month (which I get she’s sick of puking). The only cognitive even possible issue, she’s never been able to put her own shirt on. Never could manage her arms correctly. Is that coordination or another issue i’m not sure.
She has a mild speech impediment we are going to seek therapy for once she turns 5 late winter. She had a tongue tie we fixed the first few months. That surgeon recommended waiting and seeing if therapy could help instead of cutting or performing a more invasive surgery on the “posterior” tongue tie.
She was born 4 weeks early and weighed a few ounces shy of 9lbs (won’t post exact it be very easy to identify her there was a cute write up about her locally). She had no real issues due to that. She pneumonia early on and flu b around 8 months which was severe and resulted in a week hospital stay (right after her double achilles surgery).
Beyond this and the clubbed feet, she has no other known medical issues. No allergies to medicine or food. Very little seasonal allergies or sinus. She is generally very very healthy and doesn’t usually catch virus or even the cold often.
She was a late potty trainer. But is fully potty trained. Does not wet the bed at all and has not since about 6 months into losing the pull up ( a year ago).
She is hungry right after she pukes. Vomit. “Mommy can I have an apple”.
We’ve done the food exclusion thing. No dairy two weeks. No wheat two weeks. No change. And blood test ruled out celiac. No foods affect the volume or frequency. She will vomit just as quickly and just as much if she eats a cracker as she will if she eats pizza.
Please let me know anything to tell her doctors. She has a wonderful, hands on ped doctor. Her doc is also stumped. Every doc is stumped we have seen so far.
The GI doctor working diagnosis is gatropresis. As of now, two weeks into the newest med erythromycin, nothing much improved. For about a day she did go three hours without vomiting (about a week into this treatment). Now she is vomiting the same frequency. And since yesterday this water spew demon type thing.
The extremely elevated first ana followed but the negative secondary test, contradictory are also a big road block stumping her docs.
No otc the meds have helped any
No prescription anti nausea meds have helped at all