bloodwork or genetist appt first?? | Autism PDD
I don't have an opinion on what to do first, but I just wanted to say that it's a great thing that the developmental pediatrician is initiating bio-medical tests. A lot of children get an autism diagnosis without even a hearing or vision check, let alone bloodwork.
If you're in the US, have you contacted the school district regarding Birth to 3 services for any delays your child is experiencing?
Good luck with everything!
Well, we just went through bloodwork. The dev ped tried to order whatever the top of the line test is - can't remember the name. He couldn't do it, so we just did chromosomal and Fragile X. All came back negative. We didn't do the geneticists for a few reasons. One, my husband has his masters degree in genetic counseling and a Ph.D. in chronic disease epidemiology. Two, we were leaving our area and the dev ped saw no need to see them. He strongly suspected that ds would have no chromosomal abnormalities - but wanted to test to be on the safe side.
I think if you got the top of the line blood test (I WISH I could remember what it was) - you wouldn't have to worry about them adding anything because they test for pretty much everything. Then, you would only have to do the bloodwork once and see the geneticist once. For me, that's what I would do because trying to hire a sitter for two geneticist appointments would be tough! I don't know if they want kids there - but if they did, I would still need to hire a sitter for my other child and my dh would have to take off work twice - because he would absolutely NEED to be there for that - both to help me deal with ds if the appointment ran really long and also to help interpret!
I would call the geneticist and ask the nurse in their office. We went a little different route, but we did Neuro, bloodwork, dev ped.
FYI, our bloodwork was 00. Our Ins paid, but some don't
Hello everyone,thanks in advance for your opinions and advice. I have a very young son who is in the process of being evaluated and diagnosed..but we are pretty certain he is somewhere on the spectrum. He is only 12 months old but has been having issues since birth.
I am working with a good developmental pediatrician and she has asked me to do the following:
*GI consult ( for his constipation)
*appt with genetics
*blood work( some stuff like CBC, Lead, TSH and T4, but also genetic testing that includes Fragile X, DNA, Karyotype, duplication 15 q11-13 for autism)
*MRI
I am also seeing her again in 3 months.
I was about to make the appts when I started thinking about what made more sense... should we go to the geneticist first and then do the bloodwork( will they perhaps add different things to test for in the blood work?) or have the bloodwork done now so we have the results before going to the geneticist??
I mean, isnt the bloodwork more important because it will give us positives or negatives for these things... where as the geneticist is examining my son for things that might be...
It will take a month to get into seeing the geneticist... and I know some of the test results take 1 to 2 months to come back... I just want to make sure I think this through and dont waste time.
thanks again for your help,
sad in PA
If you see the docs first, then do blood, you will only have to make the trip to the blood lab once. They will need mulitple tubes of blood, and sometimes, when the kids really hollering, their veins kind of shut off. They will stick them three times only before calling it quits, and you have to come back again.
I'd say wait, then do all the blood work once.
If I were you, I would save the worst for last.....bloodwork maybe. I would go to the Gi tract dr. first as that is the most current problem and would get him some quick help and relief. They will more than likely prescribe an powder laxative to give him daily and will ask for stool samples, to take to a lab for testing. I had to get this done with my son and he was checked for mal-absorption and celiac disease. Then get all the blood work done in the same day if possible. Save the MRI, for last. Hope this helps! I've had all of this for my son and it does help to organize the steps.
Joy
I guess I was originally thinking of just taking him to the hospital lab to get the blood drawn.. which I could do right away. But I had no idea that the blood work could be so expensive.. and I am going to triple check that my insurance would cover it.
It also sounds like the geneticist might add something to the blood work...perhaps I should wait. I don't really want him to go through blood work more than once, especially if it is actual vials they draw( not just the little heal prick). He was in the hospital once at 4 weeks old and they tried to get an iv in and had a lot of trouble... someone said he has 'tough small squirmy veins'.
I also just found out that we would have to pay for the MRI out of pocket- uggh. I am going to call to find out how much it would be...have no clue.
I just don't know what is necessary right now and what could wait. If he had not been diagnosed yet, would the MRI actually help to diagnose him? Do kids with ASD have something that shows up on the MRI?
I am trying to take a step back.. we already have him in the local EI program and he is just now starting OT and getting a Developmental Therapist, both will be weekly on top of PT for his gross motor skill delay( not close to crawling yet or anything yet).
Is there a rush to get a diagnosis? Would it change anything at this point? I am trying to do everything possible...
thanks again, I can see that these msg boards have many caring people on them.
denise
With my ds, I had the bloodwork and Genetic blood testing done at the same time. That way they could just stick him once and get all that was needed. It definately is Vials of blood, bit just a prick of the finger. I think with us it was 3 vials at a Childrens hospital. If you get a DX then more intense services can start. Floortime or ABA, or I am doing a mix of the two and EI is paying for it. THis is on top of the EI services he is already getting. As for the MRI, I have no idea. It was never mentioned to me and I got the DX without one.
We haven't had an MRI but I think it is to check different areas of the brain. I don't know if this is to determine if there is seizure activity or just areas where the brain is not working in a typical fashion. I honestly don't know what they can do with an MRI - would love to hear from someone else who has had their child go through it!
This doesn't sound like bio-medical bloodwork - just routine testing that is to determine chromosomal and genetic abnormalities.
If you want your child stuck just once - then I would see the geneticist first. Be aware you will probably have to go back in order to discuss the results - so make sure your insurance covers both visits.
I don't understand why the MRI is not covered - if it is ordered by a doctor then it should at least be partly covered I would think! I would go back to the physician and see if s/he can adjust the codes. Perhaps when s/he filled out the order s/he made a mistake with the codes and can rectify that. Find out what code(s) s/he is going to use and then ask your insurance provider if it is covered.
The bloodwork is expensive. We had top-notch insurance and still had to pay 0 for it. And we didn't see the geneticists. I was, quite frankly, shocked. And we didn't get the top-of-the-line test (thank goodness!).
Definitely check, double-check and triple-check this with your insurance provider. You don't want a several thousand dollar bill appearing in your mailbox!
They can't do DNA test for pdd and asbergers. Does anyone in your family have autism,pdd aspergers. That will increace your chance having a child with the disorder.They can't do dna test of most neurological disorders. Like 4 that run in my family :asperger's, SID, dyslexia, auditory processing disorder . My grandmother is a carrier of all 4 but they can't genetically test for it, they had to do family history. All my relatives on my dad's has 1 or 2 of those disorders except 3 of us. Also the duplication 15 q11-13 for autism, is a waste of time. The reason why is because it doesn't show up with that gene most of time. They also use q11-13 for adhd, other disorders and it can show up and you're a normal person. So q11-13 it does not really tell you anything or lead you to anything.http://www3.interscience.wiley.com/cgi-bin/abstract/10252548 3/ABSTRACT?CRETRY=1&SRETRY=0
If she wouldn't have gotten enough blood the second time I would have made her get soemone else to do it. Word to the wise - the genetic blood work takes a LOT of blood, bring a snack for after! 
My son's story is a little different because while we were in the
beginning stages of having him evaluated he caught a virus which began
his seizures and he was in the hosptial for 2 1/2 weeks when he was 20
months old. While he was there is saw the following doctors: regular
ped, ped. neurologist, ped infectious diease, opthamologist and
genetics. He had tons of bloodwork (including Fragile X,
chromsone 15, Angelmans, organic and amnio, acids to rule out metabolic
disorders, DiGeorge syndrome), 2 lumbar punctures, 2 MRI's and all of
these tests came back normal/negative. He was also hooked up to
the Video EEG for a number of days to monitor the seizures and brain
activity which thankfully has improved. The genetic stuff takes weeks to get back so I would go and get the first round of bloodwork to get the ball rolling. Our geneticist said that she starts with the first round and depending on what it shows she either orders other tests or stops depending on the results and how ds is progressing.
Good luck and it is wonderful that he is already getting services.
This is the order in which we had our testing done at age 23 months (approx). I'm a family doc and I agreed with the plan. Blood/urine followed by MRI followed by appointment to discuss results 4-6 weeks after testing. Then awake/asleep EEG to rule out a rare seizure disorder that can cause certain autistic-like behaviors followed by an appointment that was 3 months after the previous one. Then we went to every 3 to 4 month appts. Then every 6 months. Now annually, but we're past due!
No genetic counselling. Andrew was tested for all known genetic causes of autism or diagnoses with similar signs/symptoms via bloodwork. My father had an undiagnosed neurodegenerative disorder at the time with an abnormal MRI which tipped the scales for getting that test done. And the EEG just rounded out the medically "treatable" causes.
My son didn't have an MRI, but they did do a CT Scan to rule out abnormalities of any sorts and brain tumors, due to his head was a bit deformed in the back until he turned 4. It was completely flat on one side, and bulged out on the other (only on the back of his head). Everything came back normal...THANK GOODNESS!Usually, they don't order MRIs "just" because a child is on the spectrum...probably because insurance would balk?
Most kids on the spectrum do not show any abnormalities, although some will show extra white matter. This is myelin - its like the protective, colored plastic coating on electrical wires, if you can envision that. It does have a function in some sort of neural connectivity, not just a protective sheath.
If you have too much of this stuff, there are not clear point to point connections - everything is overly connected...like cars merging into freeways, and roads, and highways right over the median, driving in the wrong direction with no exit or entrance ramps, no lights or signs. Its basically a demolition derby instead of an orderly convoy.
In some cases of autism, one will see evidence of over-myelinization - where the white matter looks like its grown radically, like cancer cells do. I am guessing that kids with this may be more profoundly impacted by symptoms, but am not sure.
If you child had any funkiness before birth, during delivery, or shortly thereafter - or shows neuro red flags like seizures - the MRI can also be used to look for any other anomalies.
Cole's MRIs were done because he responds ridiculously well to stroke patient speech therapy (something we accidentally discovered), and since he was 14 weeks premature, the neuro wanted to make sure he didn't have any brain damage. He was 5 before we did an MRI. He's got a couple benign cysts in there - common - but nothing that shows any problems.
The neuro explained it like this. We live in the New Orleans area, and she said - think about a helicopter slowly scanning a neighborhood for damage about two months after the hurricane. From its view, everything may look perfectly intact. But if you walk through, you will see rotted wood, black mold climbing all the way to the ceiling, ruined electrical systems, intense structural failure, collapsed foundations.
Like the helicopter, an MRI sees gross, or high level indications of problems. What's going wrong with autistic neurological processes is probably all the way down to a synaptic level or at least down to individual nerves. The MRI is too blunt a tool to see that kind of thing.
I'd say skip it unless the doc thinks its necessary.
LeAnne - great explanation.
My son had an MRI, and I'm still not clear about what they *could* have found (it was "normal"). They probably did it because he had a difficult delivery (failed vacuum extractor, then forceps), but it might have been to "just be on the safe side" since they did an EEG without any particular reason to suspect seizures.
denise...
just remember that no matter what, it's going to be okay!
blessings...
wow-you guys have so much good information... I am so glad I came here to learn more.
I think I am going to wait on the MRI.. he is only 12 mos old... not sure how far away we are from a diagnosis and as some of you have said, it is unlikely the MRI will show anything...especially related to ASD. I can see doing the MRI down the road or if we are worried about any other medical issues with him.
I have the genetics appt scheduled for Aug.10th...thinking I will keep this and wait on the blood work til after this appt. I dont want to have him go thru the bloodwork more than once.
I really appreciate all of your help.. this is pretty overwhelming.
I am sure I will be back on this board frequently and wish everyone the best-
denise
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