16 month low tone worried about development/genetics

[Mummabear21324]

Hi,

I am wondering if anyone has been in the same position and can offer any advice.

My 16 month old is delayed with her motor skills such as crawling and walking. She does not put any weight on her arms to push herself up when on her tummy, also when we try stand her up she just lifts her legs up and won’t stand at all. We self referred to the Physio months ago whom has been great and got us a standing frame which is slightly helping. She can sit up unaided for 5 minutes and then she just slides her bum down to lie down.

We had a specialist paediatric appointment who examined her and said she does have low tone especially in her pelvis/legs, her legs are always in a frog position naturally. She has been referred to get genetic bloods tests done as paediatrician stated that kids with low tone can have genetic conditions and some don’t. She is also being referred for an MRI to check her brain and spine.

She has recently started babbling a lot she can say mamma and dadda. She can also roll over but only does it to get something she wants. She will pick up food to eat, although won’t eat food that would hard to chew such as fish with breadcrumb and grabs everything with her whole hand rather than pinching grip.

Has anyone been in this position and what was the outcome? I am really hoping that she will just develop all the skills as time goes on but nervous that something is wrong.

I Lost my child born previous to my daughter whom had a rare genetic disease, although I had amniocentesis to rule out this disease during pregnancy with my daughter, this is triggering and worrying, any advice is appreciated. Thanks

I’m so sorry for your earlier loss and can totally understand the anxiety you must now feeling.

My DD has low tone and we are also going through the process of trying to get a diagnosis. It has been a slow process for us getting the various referrals.

DD didn’t make much progress between 12 and 24 months other than becoming an efficient bum shuffler but she has made good progress since then. She took her first steps at 28 months and recently started walking without prompting at 30 months. She is still way behind other kids her age but she’s making progress all the time so I’m cautiously optimistic. She can talk and feed herself and her low tone mostly seems to affect her lower half. She was a bit late talking and did have problems eating crunchy or chewy food for a long time.

There are a couple of Facebook groups for parents of kids with low tone (one UK based and one mostly US based) although the kids on there gave a wide range of disabilities so it can be easy to spiral into worst case scenarios when reading other people’s stories.

@Mummabear21324 Hello, any update on your DD? How are things now?

Hi, well my daughter is 2 at the end of the month, she can sit up but will put her head to the side to get in a lying down position, she prefers to roll everywhere. She is now putting pressure on her feet/legs and can stand holding on to us or an object. She cannot get from sitting to standing or from lying down to sitting. She has improved with her motor skills as she will now pinch something to pick it up. Her brain and spine MRI came back clear. We had an appointment with Neurology whom want to do more genetic tests we are just a waiting game really to go down the genetics route as nothing else has showed up so far. I think the paediatrician, neuro and speech and language seem to think it’s autism or autism with a genetic condition. We basically aren’t further forward with any answers. My daughter is still non verbal really, she will make sounds and shout ba, da, hiya. She is very loud and screams a lot I’m not sure if this is more frustration for her not being able to communicate. She doesn’t seem in any pain and sleeps well etc. She also has a lot of sensory seeking behaviour. She is obsessed with zips, shoes, socks, hats, glasses anything she can take off from herself or you she does and will be completely fixated on it until she gets it. It’s hard as my nephew is 6 months older, at nursery, walking, can have a full conversation. I just hope I have answers for her soon, I’m glad she is making progress and not regressing but I think our wait for answers will be a long road.

@Mummabear21324 Thank you for the update. I’m sorry that you are still not any further forward. It sounds like it’s already been a really hard journey. I think the waiting and the not knowing is the hardest part. I hope you get those answers very soon. I hope your daughter continues to make progress.