Has Anyone Taken Their Child to a Pediatric Geneticist?

If he has silent aspiration, one of the 1st folks I'd have him see is a speech/language pathologist (SLP) if you haven't already. The SLP can give you recommendations how to avoid this. This can lead to pneumonia and hospitalizations...Also if he's small for his age maybe he's not getting enough nutrients?
My nephew is also small for his age and I believe that he saw a geneticist-and he's just gonna be small. He's very involved in gymnastics and is great at it! ____@____.com

I had to take my daughter at 3 months old to a geneticist and it is the easiest doctor appointment ever. They really ask the parents all kinds of questions, just look the child over and then they tell you their analysis. It is a great way to see if anything is genetic and what they think might be going on.

S., I have a 16 year old son that is autistic. Just about three years ago I had to take him to a geneticist at Riley in Indy to be tested for morphan's syndrome. It turns out that he does not have the disease just a couple of charateristics. They were wonderful with him. Like you, my son has been through alot over the years beginning when he was first born. The exam from the geneticist was very thorough. It was a 3-4 hour visit, but I was amazed at all of the information that I received from this visit. I don't regret going and they were very kind and considerate of our needs.
D. B.

We took our daughter to a geneticist when she was about 8 months old and had several tests performed. I am so glad we did, because we found out she is missing part of chromosome 9, specifically del 9q34. It is very rare (they told us at the time only about 50 known cases). It hasn't changed what we are doing to help her, but it is just nice knowing why she is different. I am grateful for modern science!

Please feel free to contact me if you want more information or need some support through this. It can be a confusing and difficult time.

B.
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S.,

Don't worry about a geneticist, the most they will do that is invasive is to take blood. They will look a different parts of his body and will ask you a lot of questions. It may be very helpful information for you.

We took all three of our children because two of them have autism, it was very informative. The doctor looked at different parts of each of them according to thier symptoms (the ears on one, the fingers of another, the toes and feet of the first, and so on) You will not regret having this insight, and it may give you the kind of information that you need to plan the rest of your family.

M.

No, and I, personally, wouldn't. If your child has been through so much, then you need to try another route. Try a classically trained homeopath! They can do wonders. My sons have autism and are recovering using homeopathy. It really does work, without needles, drugs, or radiation.

My neighbor/babysitter has a lil baby girl that is about a month old now. They had at first thought she had downs and now know that she has something called "trisomy 12p" had it not been for the genetics testing they would not have caught her condition this early on. She will have mental and physical delays, but since they've diagnosed her this early, they can work with her a lot sooner. Most children are not diagnosed until they are 3 or 4...by then they are more delayed and it takes a lot more to get them on the right track.

I know it's not much to go on....but just the sense of security of knowing what to expect means a world of difference.

I took my two year old adopted son there about a year ago. I had his bio mom with me. He examined him from head to toe and asked about 200 questions it sounded like. He then took blood work. That was about it. The worst part was holding him down for him to examine him.

My son was born with a bilateral cleft lip and palate and we meet with the Genetics team at Cincinnati Children's and they are wonderful. We knew of my son's condition before he was born and they took the time to meet with us and explain what steps would need to be taken. When he was about a week old we met with them and they just went through several questions to diagnose our case. Since we meet with them regularly and they let us know where our son should be developmentally and it is like meeting with the pediatrician. My son is now 7 months and they have given us a lot of advice and have been a huge help.

i would take him, it could be something very small that could be easily fixed and save him years of hurting. once you know the source, it's much easier to treat & could save him thousands of doctors' visits & it could help him to catch up to his goal in height & weight.

Hey S.,
I don't know if I have much advice to offer, but I'm in the same boat as you. My daughter is 26 months old and is developmentally delayed. She didn't walk until she was 20 months old, and is just now started to talk a little. We were referred to a Developmental Pediatrician. She did a lot of tests on my daughter, and after finding nothing, but still convinced there is something wrong, we too have been referred to do genetic testing. I'm with you though, is it really worth it? I'm just concerned we will put her through so much and it will cost so much just for them to tell us she might have learning disabilities or something else so minor it wouldn't even effect what we already know or do to help her. Anyway, I guess it's best to go through with it just in case it will benefit your child. As a mom, I know it's hard to see our little ones getting all these tests done. Half the time they don't even tell us anything. Good luck!

I have three daughters and a son, although none have been diagnosed with anything they are all small for there ages.
My second daughter, Sam, is the worst, at 8 she weighs about 35lbs. She was 8.10 at birth. She has had years of blood tests and sweat test and dna. Shes seen all sorts of specialist and the final answer was..
She's happy and healthy so she's fine. Her dad is small and both grandma's to. Sometimes it's just that simple. If I were you I would do what you feel is right mother's intuition is still better than anything.

It's been a while now (4+ years) and we've been through SO many other things regarding my youngest son's health, so I'm a bit foggy on the details, but if memory serves, I THINK when we had to go to one for our son, they didn't do any further testing on him, just more or less did an extensive medical/family history on both my husband and me as well as that of our extended history.
My son has ALPS (Autoimmune Lympho-Proliferative Syndrome). Your experience with a Ped. Genet. may be different than ours though because of diagnosis and what ever else. Good luck and I'll be praying for you all.

My son has been to a pediatric geneticist at age 2. (By the way, if you are in Ohio, I believe there is a subsidy to help cover expenses that insurance doesn't). Anyway, it wasn't a big deal there, they only drew blood (although it is hard to watch your baby give blood but you know it's harmless) and I do believe that is how most genetic tests are done. They did a chromosome work-up as well as a specific test for my son's condition. It was a relief to know the results instead of constantly worrying about "what if..." If you do it you will know definitely and there will be no more surprises in the future. Good luck.

My daughter has seen a pediatric genetics doctor MANY times. She is a little person aka dwarf. There are over 200 types of dwarfism & many are over looked. I am not saying that your son has dwarfism but it never hurts to have it checked. I think that genetisists usually can tell you a lot without any real "tests". They have very keen eyes & can be pretty accurate. If he has hypothyroid though, that would be my guess as to why he may be small. But like I said, it never hurts. And yes, it is worth it. Kids are very strong & bounce back quickly. My daughter has had many visits to the docs & hospital visits too & she is fine & not scared of docs at all now. Good luck.

R.'- mom of 3 great kids ages 18, 12, & 6

I would recommend Cincinnati Children's Hospital who has a team of geneticists who see patients, do research and work with physicians at University of Cincinnati and other medical facilities to get you the best diagnosis and/or treatment. Sometimes early diagnosis or detection can help a lot. The doctors there are awesome. I personally have not been through this but I know a few of the major researchers at UC and they have done phenominal work in the last 5-10 years in the area of genetics.

Hi S.. I took my 6 year old daughter to a geneticist when she was 3 years old. For what she was seen for, they did a thorough physical exam and had her do some physical play activities. They were able to confirm during their exam and based on all the testd done prior to that appointment (make sure that ALL test results are sent to the geneticist or better yet, take them with you) that she had the condition she was referred to them for by her pediatrician. No other invasive tests were necessary.

Remember, just because you take him to the appointment, that doesn't mean you are obligated to agree to any test they suggest. Educate yourself on any test they might want to run and ask questions about what they are specifically looking for in the results.

Good luck!

hi my daughter has a chromosone abnormality similiar to downs syndrome anyway the geneticist will ask family history from both sides all family close and distant then they can test his chromosones by swabbing the inside of his cheek the same as if they wanted to do a paternity test so of course it's pain free and the results takes a week r so to come back if any of his chromosones are abnormal they will diagnose him accordingly.please email if you have further questions

Yes, my daughter went to a pediatric geneticist at 2 months. All they did was draw a small tube of blood and from that they should be able to run multiple test. When you meet with the pediatric geneticist ask them what they are going to do, what they will be testing for and make it clear that you don't want to put your son through a lot poking and prodding. I wish you the best...

The more they know, the better they can help. My granddaughter was taken to one because she was born with major hearing loss. They found that both the mom & dad carry a recessive gene to a ....Syndrome. They are better able to treat her for what comes along & they know to watch for thyroid problems as well as treating her with physical therapy for balance problems. I didn't realize how much it would help. God bless!

Hi S.,
Our son has had several genetic tests done, they are blood tests and although it is hard to put your little one through that, the harder part is waiting to hear the results (which can take weeks)We were really happy that we did it. His tests came back normal, which was a relief, but we still knew that something was causing his delays, he is on the Austism spectrum and we are seeing a new doctor that does Homeopathic treatments as someone else mentioned to you below, these treatments can help with a number of developmental delays, including curing things like asthma - it is definitely something worth looking into with an open mind - the sooner you start working with your baby the better. Good Luck!

My son was diagnosed with a Genetic disorder over a year ago, right after he turned 2. We were sent to a Geneticist and though I am a dietitian, I was really unfamiliar with all this. Make sure you know the family history of yourself and your husband. They ask a lot of questions on who has what medical conditions and at what age they were diagnosed, etc. My husbands mom was adopted and has recently become connected with her siblings. We would have been more prepared had someone told us we would meet with a genetic counselor on the first visit and what she would be asking. We did not have any genetic testing as they feel my sons symptoms are classic for his disease though no one else is our families have it. Good Luck!

My youngest daughter has craniosynostosis. Its a genetic issues that causes your skull to be fuse together instead of having a soft spot. Anyway, we met with a genetist and basically all he did was ask us health questions about our medical history and our family's medical history. I think they may have taken one vial of blood and they did an physical exam. He didnt really tell us anything new.

Good Luck