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genetic testing?

post #1 of 11
Thread Starter 
DS2, 7mo, has epicanthic folds, broad, thick-fingered hands, wide-set nipples, mild strabismus, and mild clinodactyly.

But otherwise, he seems to be developing normally so far -- he's sitting independently, very close to crawling, and has always been much more social than his older brother (ASD) ever was. He's a happy baby, a great nurser, not too enthusiastic about solids, but swallows well. He's growing well, staying around 75th %ile for weight. He never sleeps for more than a couple hours at a time, but he goes back to sleep easily at night.

Should we ask for genetic testing for the baby on the basis of the physical indicators?

And now that I'm thinking about it, I'm wondering if there isn't something genetic going on with DS1 too. He also has mild clinodactyly, and a streak of reduced pigmentation that extends across his back and down one arm. Possibly epicanthic folds, but definitely not as dramatic as DS2's. He has an ASD diagnosis, and behaviors consistent with ADHD as well.

Thoughts?
post #2 of 11
I would test if it were me. You have pieced together these attributes, and knowing if there is an abnormality may help for planning later.
post #3 of 11
I would test, too. My dd is 17 months old now and is a little late with walking and talking, but has otherwise developed rather normally. We had her tested when she was two months old based on the sound of her cry and her low birth weight and found out she had a genetic disorder. We could have come this far not knowing about it if our pediatrician hadn't brought it up when she heard our dd cry. I'm glad we got the diagnosis, though, and were able to get started on early intervention and therapies.
post #4 of 11
I would test them both too. We had DD tested in the NICU as one of the battery of tests they did on her, being assured the whole time it would certainly not turn up anything. Well it did! She has a genetic disorder and knowing ahead of time pre-qualified her for all sorts of therapies and also allowed us to get a jump on the potential problems. For instance SPD is often seen in kids with her disorder so we knew to really do a lot with tactile awareness and texture as well as toys with lights and sounds. (based on OT recommendations) At 1 she has no signs of SPD at all.
post #5 of 11
I would get both kids tested, but be preapred for the possibility that the test results might not give you any clear answers.

DS is 6 and has ASD, albinism (and the associated eye problems that go with it), asthma, epicanthic folds, multiple hair whorls, and a couple of other things. When DS was initially diagnosed with autism 3 years ago, he had a high-resultion karyotype done as part of the workup, and the results were normal. Recently, the developmental pediatrician recommended that we have a micro-array done.

We were shocked to learn that DS has a microdeletion on the 19th chromosome. Unfortunately, the geneticist was unable to give us any information abou this, since they had never seen this deletion before. There are only a handful of known cases in the literature and none of those match our son (they are neither his exact deletion nor his same medical problems). Further testing shocked us even more when we learned that DH has the same microdeletion, although he has none of DS's medical issues. So at this point doctors cannot tell us if DS's chromosome abnormality contribute to his issues at all (with DH being a silent carrier), or if it's just a benign variation. Right now we can only hope that future research will one day yield more answers.

I am still glad that we did the test, because otherwise I would always wonder.
post #6 of 11
Thread Starter 
Thanks for your perspectives. I went ahead and made an appointment to talk to their doctor about it.

Lollybrat, I appreciate the reminder that even if there is a finding, it may not be an answer. I do think it's best to know either way.
post #7 of 11
Quote:
Originally Posted by Lollybrat View Post
I would get both kids tested, but be preapred for the possibility that the test results might not give you any clear answers.
This.
We are currently in the 5th year of seeing a geneticist every year and still have no answers. At our first appt they told us they are able to find definitive answers for less 50% thier families.
They know ds has a genetic disorder, they know that the markers he has point to a deletion somewhere, but testing has not yet been able to show where the deletion is.

I am still pushing for it becuase we need services and you have to have a diagnoses to get them. Right now we are using ASD as a working diagnoses, but don't yet know if his autistic tendencies are actual ASD by itself or part of the genetic disorder. Also in our area they start to get stingy on services for ASD after they are 10. DS will be 7 in August so we still have a little time to either find a diagnoses or the rules for services change.

We don't think that knowing where the deletion is will give us much of an indicator of what his life will be like. If it was a common deletion we would already have found it.
But we do believe not only will it help him get services, but will help the fabulous geneticists who have been working with us be able to help other families.
post #8 of 11
I'm going to take perhaps a different perspective on this.

You obviously have a list of "soft markers"...but may I ask why/how you compiled the list? I mean, are these markers obvious/striking, or (and please don't take this the wrong way...) are you just hitting up Dr Google too much?

I say that only because when my DS2 was born and something was *obviously* wrong (multiple system defects), I started researching genetic syndromes so much that soon enough I was convinced that both myself and my husband, and our oldest son, had chromosome defects. If you look at almost anyone close enough, you'll find markers. But that doesn't mean there's a chromosome defect, and if there is a defect, that doesn't mean there's actually anything "wrong".

For example...on my mom's side of the family there's a lot of micro/retrognathia, ranging from mild (just need some braces) to pretty moderate-severe (my mom had jaw and chin reconstruction in her early 20s). I have it mild-moderate (had head gear, a palatal expander, 7 years of braces, etc). I had severe lazy eye as an infant/child, my mom has it mildly, my sister has it mildly. I had very flat foot arches. I had issues with the ligaments in my ankles. I have a brother with Aspergers. I have a sister with dyslexia. OH MY GOSH WE MUST HAVE A CHROMOSOME ISSUE! Do you see how my mind went there? But guess what, my chromosomes are normal (tested after my son's microarray came back positive for 22q11.2 deletion).

My husband has depression and social anxiety. He really struggles with math, can't spell worth a darn. He is legally blind (although possibly a result of a birth injury). He is very overweight (so is his whole family, but he is much more so). His brother is...odd, not sure exactly how to describe him. When I started looking at his family, I was sure I was seeing more than just inherited familial tendencies. But again, his chromosomes are normal.

But before we had a son with obvious issues, I never once thought anything was 'wrong' with anyone, I mean with all the soft markers I listed above that I have, I am still a successful college-educated woman, a really good athlete, a veteran, etc. My mom is successful, my husband is...

When we met with the geneticist to get DS2's testing done, they warned us that Microarrays are so sensitive now, they are picking up microscopic anomalies that no one knows how to interpret. Even in perfectly healthy "normal" people, they are finding sometimes multiple anomalies. So the geneticist warned us that unless showed a known syndrome, we shouldn't get too excited about it. Because they just don't know. They are guessing that a substantial portion of the population is walking around with genetic abnormalities and not knowing it. Maybe those people have wide spaced eyes and funky pinky toes, but what difference does it make?

So it's a fine line to walk. Even with my son's multiple system defects, the geneticist did not agree to testing until his third appt when he was 11 months old. The threshold for testing is getting rather low now, but that isn't necessarily helping the science any. Because there doesn't always seem to be consistency in the outcome. Some people with my son's exact same deletion die in their first year of life, some live but have severe mental illness. He is apparently somewhere in between...some issues, but yet he's thriving in his own way. So even with a "known" or "recognized" syndrome, we still have little idea what his future holds.

Anyway...I'm just blabbering now. What I mean to say is that if you have reason to be concerned, then yes perhaps it's worth testing. If you think that your child could benefit from early detection, then perhaps it's worth testing. Just...be prepared. Be prepared first of all for the dr to disagree and not want to do the testing. Be prepared that the testing might not show anything. Be prepared that it might show something that no one knows how to interpret. Be prepared for it to show something that is known, yet your child(ren) do not fit the mold.
post #9 of 11
Thread Starter 
Ah, Dr. Google. A little knowledge is a dangerous thing, isn't it? Or at least a difficult one.

Thanks for your post, 2boyzmama. You're getting at my real question, which is, I have this list of soft markers, but no serious concerns. Everything I've noted could be something, or could be nothing. Is it worth pursuing testing at this stage, in case there is something, and in case it is something for which early detection would be beneficial?

The reason I am thinking in this direction is because of our experiences with DS1, who has multiple developmental difficulties. We didn't know what we were seeing until he was 2, so we were walking around with our red flags hanging out all that time before then. I knew when we decided to have another baby that there was a reasonable chance this baby would have similar challenges. I knew I was probably going to be analyzing his every behavior, and wondering if we would catch "it" earlier this time. So, of course I have had a more careful eye on him than I would have if his brother had been neurotypical. With my careful eye, I haven't seen any of the signs of social or developmental challenges his brother had, so I guess I'm still waiting for the other shoe to drop.

But my question is still, now that I've seen them, are the soft markers worth checking out? And is it possible that we're still missing something about DS1's issues?

ETA: I feel like I haven't expressed myself well (as usual -- DS1 is not the only one with communication difficulties). It's not like I'm just looking for problems where they don't exist. DS2's eyes and hands are quite striking -- strangers ask me about his ethnicity, and everyone who meets him comments on his "big paws".
post #10 of 11
Interesting question and we are wrestling with it too. Here's my take after talking with the developmental pediatrician. Some background...

My son is not NT. Nor does he meet criteria for any one "disorder". He has had 4 thorough evals by highly qualified professionals and the dx we have gotten are 1.mild ASD 2.ADHD/SPD 3.ADHD/language disorder/possible genetic problem/possible mild brain damage 4.severe SPD/ language disorder.

So...similar dx but no real agreement. He has autistic tendencies but does not meet criteria for Autism or Asperger's. He also has very large ears and kind of downturned eyes. The ears are obvious, the eyes less so - they just look a little off and very different from us and our other kids. On the other hand, my oldest son also has large ears - although his weren't quite as large and he did kind of grow into them - so the question is, are the ears an indication of something (like Fragile X) or just random?

The neuropsych who evaluated him suggested genetic testing "at some point". Don't really know what that means. The developmental pediatrician said she sees kids all the time who she is SURE have fragile X and almost none of them do. She said she really doesn't think he has it but we could certainly test. The only thing she warned me about was that even if we found out he had it (or something else) WE CAN'T REALLY DO ANYTHING ABOUT IT ANYWAY. There is no cure or treatment other than what we are already doing which was early intervention and continued speech therapy and OT. She suggested our money may be better spent doing more basic labs to ensure there is no obvious medical problem and then continue therapy. The only reason I might want to know is for the knowledge that it is in the family - it is carried in families unlike Downs and some other disorders. It costs a lot of money for testing and our insurance does not cover it. So...we haven't done it yet. We have a follow up with the neuropsych who first suggested it early next year so I may ask about it again and get her take.

One thing about your son is that he is very young - it may be easier to get services set up should he need them if you have a dx in place. For that reason alone, it might be worth it.

I am probably not helping you make a decision....just wanted to let you know I am in a quandry about it too.
post #11 of 11
DS had the microarray a couple years ao, and it didn't find anything.

But I'm still totally in favor of testing, because the more you know, the better armed you are for all sorts of decision making later.
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