Connective tissue disorder

[MummyKelJel]

Has anyone’s baby been diagnosed with a connective tissue disorder ?
DS is 14 months old and finally feel like we’re getting somewhere .
Every few months some new symptoms crop up , the latest being we noticed the whites of his eyes are blue. ( he has horrendous GERD, jaw tremors , now legs , pupil misshapen , along with other little things )
GP strongly believes he has a connective tissue disorder.
how likely is this ??
thank you
( very stressful )

Bow legs *

I’m amazed the GP has mentioned this to be honest. It’s hard enough to get a diagnosis as an adult or older child. Has the gp said which connective tissue? If he’s thinking EDS Afaik you need to be scored on the beighton score for a diagnosis and none of the things you mentioned are applicable to the beighton test. There’s other ones as well like marfan or lupus but for lupus they should be doing an Ana blood test.

Gerd can definitely be a symptom of connective tissue disorder and I’d imagine being bow legged probably could too but they could also be caused by other stuff. Never heard of connective tissue causing tremors or pupils to be misshapen or whites of eyes a different colour. Also ime GPs won’t diagnose it and they send you off to a rheumatologist. Is your dc seeing a paediatrician?

Yes my daughter has a type of disorder which involves eosinophilic esophagitis, diagnosed by biopsies of the GI tract.
She also has hyper mobility and other autoimmune things

Brittle bone disease she said she thinks , he’s been referred to the hospital and has been under the paediatrician team for a while now, but no one ever seems to check him ? Just take notes of how we’re getting on 🫠 apparently the blue whites of eyes is what she was ‘ excited ‘ about because it’s a big clue 🤷🏼‍♀️ In the meantime is just stressing me out while we wait for an appointment ! Was hopping someone has been through the same

Blue sclera occur in some forms of Ehlers-Danlos Syndrome.

I’ll also add he’s never broken a bone so I couldn’t understand that either but obviously that caused great stress as I’m worried when he falls over now ( which he does a lot )

did this take a while to diagnose ? And did you get help with treatment etc ? ☺️

The blue in the eye x

I hope he gets seen soon, any idea of a time frame? I can understand being worried but reassuring that he hasn’t broken any bones.

Not a clue unfortunately, his Dysphagia nurse was here on Thursday ( he has all his liquids thick as he coughs/ chokes on anything thin ) and she said she’d help push an appointment sooner in her report so 🙏🏻 we’ve been struggling on for so long now with no help

Has the gp or a paed ruled out neuromuscular disease?

No nothings been ruled out or suggested really , the only thing they did say was Cerebral Palsy when he was about 5 months but as he’s got older it’s very clear he’s not got that.

Hi both my DD and myself have osteogenesis imperfecta type 1 DD wasn't diagnosed until she was 11 and I was an adult. Neither knowingly broke bones until 4/5. HTH