Genetic testing for developmental delays

I've posted before about Kevan's oral motor delay, and his various other issues....and, the fact that he's not walking yet at 17 months (not even one step yet, though he does get up and stand for about three seconds now).

The ped referred us to a geneticist, to rule out any larger syndromes, I guess. The appointment was this morning, and I honestly had deluded myself into believing it was just a formality. (Partly because we went through this with Nadia, saw the gamut of doctors for a "loose hips" issue that turned out to be absolutely nothing.)

Turns out the geneticist was quite concerned after examining him, and says he has significant delays in many areas. For one thing, she says he has low tone in his legs, even though his upper body is quite strong. Kevan sees *two* pediatricians (long story), and no one has mentioned this before now. If it's true, no wonder he's not walking. She said we should have gotten him physical therapy long ago.

Anyhow, she then recommended SEVEN different blood/urine tests, to look for chromosomal deletions, various syndromes, enzyme disorders, etc. Plus, I have to take him to a neurologist for an MRI or CT scan. And if none of those turn up anything, we have to go for a three-part hypotonia panel.

Ugh. I am now worried sick. I'd been cutting him a lot of slack all this time -- the kid is a boy, a twin, a preemie, and had two surgeries at a young age....I just figured he was a late bloomer, and with good cause. That could still be the case, obviously, but the appointment has me totally stressed out.

Has anyone else gone through this type of genetic testing for general delays? If so, please share your stories. Thanks!

 

:hug: Becca! I am so sorry that the appointment didn't go as well as you would have liked. Hopefully it will shed some light and if nothing else you will be able to get some answers. :hug:

 

We did not go through genetic testing, but one of my DDs was late walker (17+ mon), hypotonic (dx mild CP), sensory issues, oral motor difficulties and has MRI testing.

She ultimately got dx with mild CP. She had PT (18-25 mon) and OT (24-31 mon) through EI. Her MRI showed a large head & a bit of extra fluid (not hydrcephalus)---but no underlying problems.

We were offered genetic testing, but declined since she seemed to do so well in many other areas. Last developmental testing showed above age for cognitive and language (expressive and receptive). Age appropriate for fine motor. Mild delays in social and gross motor.


I would look into PT for sure and maybe OT for oral issues (she did not chew food, gagged on textures, drooled when younger and 'mouthed' items).


We were VERY concerned at 18 months when she did not really walk much, had few words, and seemed so socially delayed. Now at 3-- she is successful at preschool, talks up a storm, and is just wonderful! She finished EI services at 3 and the local school system decided not to offer her services since she had made SO much improvement.


I hope you get some support and answers!

 

wow, I'm sorry that you are going through this. I can't imagine how worrisome this must be. I have a 17 month old who has only taken a step or 2 and she is in EI. She also has communication delays and feeding issues. My twins were 10 weeks early plus she had multiple medical issues when she was born. So I always related her delays to that. I am a PT but I don't work with kids but I could tell that she was a little low tone. I had amnio done and there were no genetic problems identified. I think there's a good chance they'll find nothing. How long do you have to wait for results from the lab work?

 

I'm sorry for all that you and your DS are going through. So much to worry about!

I have not gone through this - but my best friend's DD did not walk until she was 18 months old and she also was had hypotonia, chronic constipation issues, and low weight gain. She went through a variety of blood and urine tests - and everything came out just fine. Actually, when she started walking - she was basically running.

I hope that everything turns out just fine for you and your DS. I hope you get the test results soon. :hug:

 

Oh, Becca... what a tough position you are in right now!! It is the worst to not know what is going on. Worse, for me, even than knowing if there IS a problem. I really hope everything is fine with Kevan and that he's just taking his time and focusing on pulling up to swing from the chandelier rather than walking. *Please* keep us updated. He and your entire family will be in my thoughts! :hugs:

 

We did not go through genetic testing, but did have an MRI and EEG done, which both came back clear.

My DD's were born at 31 weeks, one walked at 11 months actual the other not until 20 months actual. She started in EI around 17 months of age. Honestly, she was just a late bloomer. She's fine today, graduated from EI walks, runs, jumps, talks our ear off, she just took longer to get there than her sister.

Hopefully the testing comes back clear and your DS will do things on his own timetable. Therapy will definitely help. Hang in there, and hugs.

 

Sent you a pm. :hug:

 

My twins have autism (yes, formally diagnosed) and they have just gone through genetic testing. We did this because very rarely, a genetic/chromosomal disorder can cause symptoms of autism and these syndromes are often fatal or health complicating. They have been delayed in all areas, physical and otherwise, since 10 months and have been in early intervention since 13 months. We only tested one twin because they are identical. We just got the results and nothing was found, thank goodness. I was not looking for answers for their autism, I just wanted to rule out genetic disorders that could affect their health down the road if they did have them. Anyway, it is a load off our minds because we would like to have another child (possibly) and now we know there is not chromosomal abnormality or genetic disorder.

Doctors that deal with genetic disorders are typically worst-case senario kind of people. That said, the Dr. is probably worried mostly about diseases such as a muscular dystrophy disease. This would require genetic testing. Boys are typically the most affected by MD, although some forms can affect girls. Girls can be carriers of MD so knowing if your son has one of these diseases would also benfit your daughter. The route to go to find out for sure if it is MD is to go through the Muscular Distrophy Association because they sponsor clinics for testing and treatment, which will save tons of money in the long run. If MD is not suspected at all, then that's not an issue. If they suspect cerebral palsy, this can most often be dianosed without genetic testing even though many doctors will recommend it anyway to rule out other causes. CP is not progressive and many other causes of low tone and muscular diseases/issues are. This fact alone can rule out CP as a cause for low tone and other issues.

The least costly and often most helpful thing you can do first is get him evaluated by Early Intervention Services. This is free and most of the time services needed like speech,physical,occupational and developmental therapies are free as well. Our insurance did not cover genetic testing and many companies will not cover it. The cost was almost $4000!!! Our doctors tried to make the case for us so Blue Cross would cover it, but it did not work. As for MRI's and such, those tests are not needed unless something is found through other testing or if therapy does not help him progress. I presonally would not do all that until you have ruled other things and given physical therapy a try. Unless of course there is some real emergent reason to test for things like brain abnormalities. A second opinion is always a very good idea.

All that medical mumbo jumbo aside, many kids are delayed walkers for no reason except they aren't ready to walk. Low tone is a concern but it doesn't always indicate a medical problem. Many kids are low tone due to sensory issues or lack of proper exercise. I mean if he's not standing, cruising etc yet, he may not have built up his muscles in order to stand. This would indicate the need for physical therapy. I have 2 friends with mulitples where one did not walk at all until almost 2, so it's not out of the norm. As you said your son had multiple medical issues as a baby and this alone will cause delays and they are leikly not permanent as long as they are treated.

If you have any questions about what I have said, please let me know. I'm happy to help if I can. My husband used to be a director for MDA and that is the only reason I brought that up. I do not want to stress you out further! I think Early Intervention is the way to go and great place to start the journey of getting it all figured out. Also do talk to your pediatricians. They know his medical history best. Good luck with everything. I pray he is well!

Kelly

 

Becca,

Hugs to you and your little guy. I hope the tests aren't too invasive and that you get some good answers soon. I've got my fingers crossed for you that Kevan is just a later bloomer than some, and that a little PT will have him up and running soon. When do you guys start PT? I've heard it can be kind of fun at this age... so enjoy!

 

My second DD did not walk until she was 18 months (and in a 3T and 36 lbs. HUGE TO CARRY!) She was also not talking above a 9 month level. It turned out to be an issue of inner ear fluid. Ear tubes helped immensly. At 6 she is dong 3rd grade reading and 5th grade math. Smart!!!

Keep in it, there is plenty of hope!

 

eek, becca, sorry to hear you're going thru this, i can only imagine :hug:

i'm a bit surprised that though, hadn't EI already evaluated him? did they not notice? sending hugs and prayers your way, hope everything turns out just fine. hang in there

 

Hugs Becca, what a stressful thing to have to wait on!

 

Thanks so, so much, you guys. It really helps to be able to vent about this.

To answer your questions -- they didn't draw any blood yesterday. The geneticist ordered seven tests -- five blood and two urine, I believe -- and I'll schedule those as soon as his ped gets the report from the geneticist's office. What sucks is it will have to be several blood draws, as they can't get enough blood in one sitting. Last time, it took four people to hold Kevan down in order to draw blood, LOL. But, big picture, it's not that big of a deal. I hope to have it done over the next few weeks.

Unsure how long the results will take, but some of them are very fancy tests that need to be sent to various labs (although I think Emory does them all, so hopefully they send them there).

His neurologist appt is on January 22. That's actually a good thing, because it will give us a chance to maybe get some of these other results back, and also, there's a good chance that we'll know more about the strength in his legs, etc. by then -- so both of those will probably influence what sort of brain scan they do. I'm hoping it won't be needed at all.

About therapy -- we've gone the EI route, and Kevan qualified for speech/oral motor therapy. Turned out that a private therapist was actually cheaper than the EI rate (isn't that crazy?), but regardless, he sees a speech therapist weekly (and has been for a few months), mostly for oral motor exercises/stretches. I also do these stretches for him myself daily.

The speech therapist recently suggested that we see Sharon Wexler, who is a renowned local oral motor specialist, and Kevan has an appointment with her on Dec. 2. She really seems to know her stuff -- I spoke with her at length on the phone a couple weeks ago -- so I'm hoping we'll get some answers (or at least ideas for treatment/therapy) from her.

So, that's where we are with that. Kevan was evaluated by EI just after he turned 1, and they didn't notice anything odd about his legs. He was pulling up and cruising then, so there was nothing unusual to see, I guess. And, he is still pulling up and cruising everywhere....and climbing on everything, let me add. He knows to turn over the toy bin, push it over to the kitchen counter stool, and then use both to climb up onto the kitchen counter to get to the oh-so-exciting dish drainer, LOL.

Anyhow. Most recently he started pushing himself to a stand without holding on to anything, and will stand there unassisted for a few seconds. Because of this, his pediatrician wasn't overly concerned, because walking anytime up until 18 months is considered in the normal range. But, the pedi never mentioned low tone in his legs, either. I'm going to call and ask about it.

We're still in the EI system, so I'm going to call and ask if he can have another evaluation. Good place to start, at least.

I don't think the geneticist is freaking about the walking thing only -- I think in combination with his oral motor delays, his respiratory issues, and the fact that he's somewhat cognitively delayed (sometimes this seems to be the case, and sometimes it doesn't), she's thinking it might be part of some larger syndrome, or even some metabolic disorder...

(Kelly, thanks for all that great info. I hope I answered some of your questions!)

 

Hi Becca,

Just offering some hugs - try not to think worst case senario...it is so easy to think that way but it is so often not the case at all!

 

Oh yikes! I'm so sorry you've had such a scare. :hug: It is great that they're being cautious and doing all the tests, and that you have EI to turn to meanwhile. If there is something going on, you're catching it really early --- and hopefully it will turn out to be one of those things like when you're pregnant and they say, "Well, one finger measures a half millimeter too short, so there's a chance your baby could have Trisomy Scary as Heck" and then everything's fine.

Sending you lots and lots of hugs as you wait to find out more about what's going on. :hug: No matter what you find out, Kevan couldn't be in better hands - he has a tough, smart mama bear looking out for him!