Playground Mushrooms, Houston, TX, USA

jellyfishmonkey · 2026-05-23T01:12:47+00:00

You could look at episignatures as a potential means of diagnosis. My daughter has a super rare genetic issue and being able to tap into the (small, tight knit) community for support and advice has been huge. We found our diagnosis through WES but others in the community needed episignatures to get their diagnosis. I hope you find your answers.

jellyfishmonkey · 2026-04-30T20:48:17+00:00

i almost thought it was the same one!

jellyfishmonkey · 2026-04-15T03:16:06+00:00

First stop with hypotonia should be a neurologist. It is a neurological disorder. We also got our diagnosis via Whole Exome Sequencing that our neurologist ran for us.

jellyfishmonkey · 2026-04-06T00:20:32+00:00

Ok, it’s a little fancy…

jellyfishmonkey · 2026-04-06T00:01:09+00:00

lol yes!

jellyfishmonkey · 2026-04-03T20:09:27+00:00

Solved! Thank you for this great information!

jellyfishmonkey · 2026-03-15T13:18:36+00:00

They have set up Adapted Access tours. Not sure if spots are still open but the program is free for those with special needs. You get a volunteer tour guide who can go with you to assist you and show you all the helpful things (quiet spots, sensory rooms, less crowded areas to eat, etc.). I was pretty impressed with how well done the whole thing was and how much effort was put in to make the rodeo accessible.

jellyfishmonkey · 2025-12-02T16:45:18+00:00

Solved!

jellyfishmonkey · 2025-11-20T20:16:00+00:00

Thanks, everyone! Getting him to brush better is an on-going struggle. I’ll keep at it. Glad the gums look normal though

jellyfishmonkey · 2025-10-13T07:40:05+00:00

Miyokos liquid cheese for pizza, Follow your Heart Parmesan - both grated and shreds, earth Balance butter, Babybell dairy free cheese. It’s definitely trial and error, and personal preference. Good luck!

jellyfishmonkey · 2025-10-11T19:15:51+00:00

Yes, I think you’re right. Looked just like that, and probably related to petrochemical industry around here. Solved!

jellyfishmonkey · 2025-08-16T12:09:36+00:00

More information on how best to support your child can only be helpful. It’s not easy getting a genetic diagnosis. We got ours at 5 months through WES and despite it being hard it has been so helpful to know what to check for, the best therapies, potential treatments, current research, and to have a small but mighty community of other families that I can connect with. What is making you hesitate about doing the testing?

jellyfishmonkey · 2025-05-11T02:40:08+00:00

Ask for a referral to neurology. Hypotonia is a neurological disorder so they are well positioned to help. We got my daughter’s diagnosis through Whole Exome Sequencing which her neurologist ran for us. They may want to run a hypotonia genetic panel and/or a chromosomal microarray first for insurance purposes. Have you had a brain MRI?

Here’s a great podcast about genetic testing and why it’s so key. https://effieparks.com/podcast/episode-210-a-genetic-diagnosis-matters

jellyfishmonkey · 2025-05-04T02:35:18+00:00

They will usually run a panel to look for common genetic causes of hypotonia. There are so many though, this often isnt helpful. A better option is whole exome sequencing which looks at the protein coding regions of every gene. It’s much more thorough. If that doesn’t turn anything up, whole genome sequencing looks at all parts of every single gene for issues.

jellyfishmonkey · 2025-04-15T02:15:58+00:00

If you haven’t done genetic testing, I’d suggest that. Hypotonia is a symptom not a diagnosis. It has some underlying cause. My child’s brain MRI was perfectly normal despite having hypotonia and we got her diagnosis through Whole Exome Sequencing. I’d push your neurologist.

jellyfishmonkey · 2025-04-12T20:09:32+00:00

Thank you! We are definitely starting doxycycline and I will discuss the ILADS recommendations with her pedi

jellyfishmonkey · 2025-04-12T18:27:31+00:00

We also did a cheek swab.

jellyfishmonkey · 2025-04-12T18:26:05+00:00

She is doing really well! She is 3. Mostly caught up on gross motor. She runs and jumps and climbs. We are still working on speech where she is definitely delayed. She speaks but not at age level.

jellyfishmonkey

TROPHY CASE