Neurodevelopmental pedi update

kcisthebombdotcom

So the appointment overall went pretty well. As we expected and were warned prior, we got an official diagnosis of "developmental delay" with a follow up in 6 months.

The doctor admitted she was pretty stumped. Naturally my daughter had to walk into the room, instantly warm up to the male intern, and sit nicely and play dolls with lots of joint attention/social reciprocity. The doctor said "well, this wasn't what I was expecting when your pedi called me and asked her to evaluate for autism". My OT and I were like "we swear, she's not always like this." lol.

After her eval, she put her language skills at a 15 month level and her motor skills at a 20 month level. She did mention that she felt there was a good possibility her language would improve with her newfound social reciprocity (which literally happened in the last thirty days). She also felt that since we had recently started her on a gluten free diet that may be helping cause the improvement. While she mentioned she doesn't recommend the diet as a cure for autism (and generally steers parents in the opposite direction) she noted that the kids she worked with that had true celiac diease/gluten sensitivity who follow the diet frequently experience huge gains in development. She said that receptive language delays are frequently a behavioral thing and if she wasn't feeling well it made her unreceptive. It was kind of reassuring that there was a possibility her delays would vanish with continuing the diet alongside therapy.

The doctor felt pretty confident saying that it was highly unlikely we were looking at an ASD though she did see why we had those concerns due to the fact she does have numerous red flags. She also wasn't comfortable with ruling it out completely so she'll want to see her frequently to monitor. She also referred us to a geneticist for further testing as she thinks it's possible she has a chromosomal abnormality/deletion.

If anyone has some info on the process of seeing a geneticist, I'd love to hear it.

mightmom13

KC_13:

So the appointment overall went pretty well. As we expected and were warned prior, we got an official diagnosis of "developmental delay" with a follow up in 6 months.

The doctor admitted she was pretty stumped. Naturally my daughter had to walk into the room, instantly warm up to the male intern, and sit nicely and play dolls with lots of joint attention/social reciprocity. The doctor said "well, this wasn't what I was expecting when your pedi called me and asked her to evaluate for autism". My OT and I were like "we swear, she's not always like this." lol.

The doctor felt pretty confident saying that it was highly unlikely we were looking at an ASD though she did see why we had those concerns due to the fact she does have numerous red flags. She also wasn't comfortable with ruling it out completely so she'll want to see her frequently to monitor. She also referred us to a geneticist for further testing as she thinks it's possible she has a chromosomal abnormality/deletion.

If anyone has some info on the process of seeing a geneticist, I'd love to hear it.

This sounds exactly like DD's appointment with the developmental ped, down to dx, follow-up timing, maybe no ASD but check again, etc. DD fed a baby a bottle (we don't have one) for the first time when we were there, lol.

I have always delt with a geneticist myself and now DD is on their docket. I may not know from super scratch since they have mine "narrowed down" to mitochondrial dx (there are like 4,000). They may do urine and initial blood-work; talk to you about family history/pregnancy, and council you on the process of how it (whatever they are looking for) may have been passed on as well as how they treat it. Be prepared that if they have a general idea of what kind of thing they are dealing with that tx is often the same within families of genetic disorders whether a specific dx is given or not. Like with mito - diet and/or carnetine/co-q 10.

Also a six-month follow up is usually scheduled. Blood and urine tests for genetics take a lot longer to come back (4-6 weeks) than other tests too - fyi.

Assembly_Reqd

I guess we should do that genetics FAQ we've been talking about......

 

For the genetics appointment they probably first do a quick weight height vitals. They may do a blood draw that day, they may send you to quest. I would call your insurance and state that you maybe needing some blood work done and ask where an approved site may be. If it is at a Quest, ask fro their most experienced flabotomist who has drawn blood on children,

In our experience, we talk to the genetic couselor first. She takes down family tree info and will want to know information about your immediate family, what diseases they may have, etc. You may want to call both your DH 's and your parents to get more 'under the table' information about your extended families. If there are some medical-genetic issues in your extended family you are not aware of, this is the time to know about them. Even relatives who died in infancy and miscarriages they want to know about.

Bring your DD's baby book or a list of milestones.

After all of the intake is done the geneticist will come in, talk with you and then will do a tip-to-toes exam of your child. They will point out all the things that are different about her or may be genetic markers giving clues for where to start looking for syndromes.

This is the hardest part of the exam for the parent. Do not be surprised is he/she starts a laundry list of sorts, full of phrases you never heard of or nit picks things on your kid that you thought were uniquely her, and not some sign of a syndrome. Most of the phrases you can do a google image search on later and find out what the heck they mean. We heard "rocker bottom feet, wide spaced nipples, adducted thumbs, low set ears, broad flat nose bridge, flat philtrum, small chin, almond shaped eyes, partial syndactyl toes...etc, etc, etc. Some of those things are related to Nate's deletions, some of those things he got from us. The wide spaced nipples and funky toes are from DH, the almond eyes and small chin are from me. Don't let the list freak you out, but it is an important catalog to have.

If you do blood work you will probably have a followup in three months to discuss the results. Good Luck! 

 

kcisthebombdotcom

Thanks for the info!

Would it be helpful to bring some family photos? The neuro was trying to tell me my DD didn't look like me but I really think she resembles me/my side of the family.

Assembly_Reqd

KC_13:

Thanks for the info!

Would it be helpful to bring some family photos? The neuro was trying to tell me my DD didn't look like me but I really think she resembles me/my side of the family.

I dont see why not. It may inform the discussion and it may be a tool to point out features that are different than yours....