genetic specialists and height issues

Has anybody here seen a genetic specialist before? I just went to see an asthma specialist for the first time (changing insurances and so new doctor) and he thinks I should see a genetic specialist to see why I am so tiny. The doctor seems to think I have some kind of genetic disorder that causes me to be this tiny and have the problems I have. He thinks that I should get to the bottom of this issue since he thinks it has a bearing on my asthma issues and on other health issues such as being prone to heart attacks and such, in the future.

Personally, I do think I have some genetic issues that cause me to be this small. I am just afraid to go and look into it because of what I can find out. My mom would also kill me if she knew I was looking into why I am so small. She never took me to see a genetic specialist or developmental specialist to see why I was so small or why my body/bone structure is so peculiar. She just says I am small and that's that.

I guess this is a sensitive issue with me and I am afraid to go looking where I may NOT want to go looking. This doctor thinks I have some type of "syndrome" and should look into it, so as to prevent future health issues, as well as see if it is treatable. I am just afraid that I may find out that I have some issues that could cause me to have a short life or something like that.

Yeah, this kind of bugs me in a emotional way since my mom would never want me to find out about my genetic issues. If I bring it up to her, she would tell me NOT to do this, and that I would just be freaking myself out over nothing.

I dunno.

Hi there. You are old enough to be able to make your own health decisions without having to tell your mom. Let this be YOUR decision.

Although I have never been to a genetic specialist myself- many of my colleagues have brought their kids to them.

Sometimes a genetic specialist will have a clear answer for you- but sometimes it's just pure speculation. For example, one of my cowokers was told that her child had one type of syndrome at age 2 - now the child is 13 years-old and her diagnosis has totally changed becaue she no longer fits the criteria.

If you think this could improve your healthcare in any way, and insurance will pay for it, then I think it can't hurt.

BellaDonna

Bella Donna, I know it is MY decision only. Having a doctor tell me that I should see a genetic specialist just brings back echos of what my mom would tell me (I can just hear her in my head now telling me the doctor is crazy and that I am fine and just small and not to do this). I know I am NOT fine. I have spinal issues that cause problems for me constantly. I have asthma issues, and a few other things. I also have to control my weight better because the doc thinks I should lose weight since now it is somewhat impacting my asthma.

My biggest fear is that they will find that I have some genetic issues that might mean a shorter life than others, health problems, etc. I know, as I grow older, I have been having more problems with my neck and spine.

Bella, if you don't mind me asking, how does a genetic specialist determine what kind of "syndrome" you have, or issues you have? Is there blood tests involved?

I don't understand why your mom would not want you to see one. Do you wonder if she knows something and is holding back?

Bella, if you don't mind me asking, how does a genetic specialist determine what kind of "syndrome" you have, or issues you have? Is there blood tests involved?

I'm pretty sure they would use a combination of visually assessing physical characteristics or "soft markers" for conditions -and then do bloodwork, probably the "MassArray spectometer" chromosome test. Some will do a skin biopsy which is not very invasive (no worse than a bloodtest)- but can be more useful than a blood test because those skin cells are older and hold the key to more info, especially on mild syndromes that bloodtests can miss.

Here are sites that might help you:

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They allow you to submit questions to a geneticist online.

Well, at 34 I think you can make your own decisions concerning what you want to know, and your health. Since it can be more than just being "tiny" and have severe repercussions on your heart, respiratory system...I say go.

I have been to a genetic counsellor for my family history of breast cancer, and I will go back in the future before I start a family as they indicated at that appointment I may have a gene that also increases risk of miscarriages dramatically (my mother and grandmother both had several - 7 and 5 respectively) that I may have to take certain precautions or medications for...normally not something they test for unless there is an unusually high rate of miscarriages in family or for you.

Personally, I would rather know what I am facing and be able to take precautions as best I can than live in the fear of not knowing. But everyone is different and it is a personal decision.

There are blood tests if they choose to go further if they want to actually check the DNA for certain genes, but depends I suppose. Sometime they just can take other measurements and tests to determine it.

As for your mother...well as I said, you are old enough. You do not need to tell her if you choose, and even if you did...well even if she tries to argue with doctor's results...it really would be kinda of silly for her too wouldn't it? It would show more about her own person than be an issue about you and your health.

Bella Donna, I know it is MY decision only. Having a doctor tell me that I should see a genetic specialist just brings back echos of what my mom would tell me (I can just hear her in my head now telling me the doctor is crazy and that I am fine and just small and not to do this).

Oh my God, can I relate.

When I was 15, I was thrown from a pony. I told my mother my shoulder hurt. She gave me some aspirin and said there was nothing wrong with me.

The next morning I woke up and my shoulder was on my chest. I had broken my collar bone in the fall. It wasn't until the next afternoon that she bothered taking me to the ER.

I know I am NOT fine. I have spinal issues that cause problems for me constantly. I have asthma issues, and a few other things. I also have to control my weight better because the doc thinks I should lose weight since now it is somewhat impacting my asthma.

 

My biggest fear is that they will find that I have some genetic issues that might mean a shorter life than others, health problems, etc. I know, as I grow older, I have been having more problems with my neck and spine.

Having solid information to work with is better than not knowing. If you know what you're up against you can make choices that will maximize your health and ultimately your life.

Get thee to a doc, m'dear. When you grow up with parents like ours, doing the things you need to do to take care of yourself can be difficult but we need to rise to the challenge so we can be the whole, healthy adults we know we can be.

Metrogirl, my mom is a bit odd when it comes to doctors and stuff like that. She doesn't trust Western medicine and would rather treat stuff using old Asian/Chinese methods and medicines (they do work well in some things). Growing up, my mom would rather treat me with Chinese medications to calm my asthma down, rather than take me to see a doctor. Only when the asthma got worse or WOULDNT go away, then would she take me to see a doctor and get meds. And it isn't because of lack of insurance either. My dad has been employed by the same university for over 34 years and when I was growing up, I had good medical insurance.

RayKay, Bella Donna, I am going to go see the genetic specialist. The earliest appt is sometime in August, but I am going to get this done, irregardless of my mother. The doctor piqued my curiosity and I want to find out why I am so tiny and what kind of repercussions it could have on my later life (esp if it could impact my heart and/or reproductive issues).

Shes2smart, you are so correct about my mom. She is like that, and it isnt because of lack of health insurance either. She just thinks that it is not something to worry about. My mom refuses to get regular checkups and pap smears because she says she's healthy and doesnt think that stuff like that can happen to her. She thinks I see the doctor too much and has told me so. She also tells me I take too many meds for my asthma, but I dont let that bother me because since I have been able to take care of asthma issues on my own insurance, and not have her watch me, it feels great because I rarely get flareups where I can hardly breathe and those were scary.

 

Personally, I do think I have some genetic issues that cause me to be this small. I am just afraid to go and look into it because of what I can find out. My mom would also kill me if she knew I was looking into why I am so small. She never took me to see a genetic specialist or developmental specialist to see why I was so small or why my body/bone structure is so peculiar. She just says I am small and that's that.

 

 

Yeah, this kind of bugs me in a emotional way since my mom would never want me to find out about my genetic issues. If I bring it up to her, she would tell me NOT to do this, and that I would just be freaking myself out over nothing.

 

I dunno.

Well don't get me wrong but your mom is completely ignorant.

Luckly, you're grown up so you are making decisions for yourself now and for your own benefit.

And I think seeing a doctor would be a great thing. You need to check up that issue as your doctor said to see does it have any connection with your other health problems.

Also you don't have to say a word to your mother.

You can always come here and share it with us.

Leave her out of it.

You know, sometimes it's necessary not to tell everything to our parents. And it's completely normal to keep quiet about some things.

Your parents are not telling you about their sex life, you're not telling them about yours, you keep your gyno results to yourself - you're not going to share them with your dad...so why not skipping your health issues too?

You know your mom woan't be supportive, but you need to do whats good for you, so to skip all the drama just don't share that info with her.

And be glad you found a good doctor.

I am going to go see the genetic specialist. The earliest appt is sometime in August, but I am going to get this done, irregardless of my mother. The doctor piqued my curiosity and I want to find out why I am so tiny and what kind of repercussions it could have on my later life (esp if it could impact my heart and/or reproductive issues).

I think that is the best thing you could do, Ren. It's for your own health and well-being. You can never be too proactive when it comes to your health. I'm glad you are going to look into this.

You know, sometimes it's necessary not to tell everything to our parents. And it's completely normal to keep quiet about some things.

I agree 100%.

Hi

Not all genetic 'conditions' are necessarily deadly. I have a history of dislocation of my knees. I saw an endocrinologist about an unrelated matter a few years ago and he started getting me to bend my fingers back and curl my fingers around my wrist, and he took measurements (I am very tall) and told me I have a condition called 'generalized joint laxity' which is due to an abnormal chromosome, and, I subequently found out, can be linked to severe anxiety disorder...

There are as many genetic 'conditions' as there are genetic variations, so please try not to think about the absolute worst thing before you find out!!! (Though we are all inclined to do this, I know). I'd advise you to see a doctor as well. Now that your gp has suggested it, you will be worried, and it will probably serve to put your mind at rest.

Best of luck

x

Well this is my experience. 18 years ago I was 7 months pregnant when I was told that I would need to see a genetic specialist. The ob/gyn said there was something wrong with the baby but didn't know what for sure.

I underwent many specialized tests and it was determined that the baby had osteogenesis imperfecta type 2 (brittle bones disease).

Although there was nothing that could be done, it was better to know than to not know. Since that time I had two more children (healthy), but had to undergo a battery of tests with each pregnancy to be sure it wasn't happening again.

Scary, sure.......But you need to know what is going on so that you can better take care of yourself. I hope everything turns out well for you.

You guys are right, it is better to know than to NOT know.

You guys are right, it is better to know than to NOT know.

Of course it is!

And remember - it's better for your mom not to know at least till everything is checked up.

I'm pleased you've decided to go and have the tests done.

You've got my full support too.

Ren your mom has issues and has only been forcing them on you. Your health is very important and knowing if you have a genetic condition will help you in the long run. You will be able to get treatment that is better suited to your needs, there are whole new avenues of things that can open up if the doctor knows all the information.

Your mom is in denial. She doesn't want to admit the child she gave birth to wasn't perfect. Her actions have only caused you more pain and done nothing to help you. Imagine if she had taken you to a doctor when you were young and they found it was a pituitary issue, then you would have been treated and have had a more normal growth pattern. Your mother is not in charge anymore, you are, you make your own choices.

Ren,

Sorry I am jumping in kind of late. One of the main reasons (other than for my own knowledge and if need to treat it) I would see a genetic specialist is if I want to have kids and the potential of me passing a disorder through my DNA (whether I am just a carrier on have it and do not know it) I would want to know because perhaps it would influence my decision on whether to have a child or not.

And as the others said, you are 34 years old, you are entitled to do be proactive about your health, WITHOUT you mom's consent. CarnalianButterfly brings out some very good points.

I am glad you have decided to have this checked out. Please keep us updated.

Right now, I am still on the fencepost concerning kids. I like them and I like working with kids, but not sure if I want one of my own.

I mainly want to find out if my short stature and any ensuing genetic issues could cause me to be more prone to developing heart or other types of health issues. I do know that there could be some kind of link between my spinal/back issues and my height. Mostly I want to know what kind of impact this will have on me as I get older.

I know I don't need my mother's permission to do this since this is my insurance and my stuff. I've just been so "trained" in my head about how my mom will react to this. She already thinks I take too much medication for my asthma issues and has hinted numerous times that I should exercise more and eat better and stop taking my meds. She thinks that by eating better and exercising, my asthma will go away and I won't need to "depend" on those meds.

My dad has high cholesterol issues and my mom convinced him to stop taking his meds (Lipitor) and eat better, more healthy. She tells him that is the way to live a long life.

Asthma and cholesterol are not similar, cholesterol is a can be actively effected by diet, but asthma is not some thing diet will change. Most asthma suffers do better with low impact aerobic exercise, such as swimming, it will help control the asthma, but it will not make it go away. Asthma patients should always have meds around because any sudden of stressful situation could bring on an attack. My whole family (except me and my granddad) have asthma, they all have inhalers with them in their car, sleeping bags, bed side tables, on and on. It is a condition that can not be helped by stopping medication and eating better and exercising.

here is another vote for being 'proactive about your health." you are 34, and your mom doesn't get a final vote in your life. I hope that the meeting with the counselor goes well and that they don't find any major issues.

if for no other reason, you should go to see if you do have anything, because it can impact what drugs you get and interactions. for example, if you have asthma, you can't get certain beta blockers. stuff like that. knowing if you have some kind of genetic disposition may help doctors make more informed decisions when it comes down to giving you one antibiotics vs. the other.... etc.

good luck, i hope there is nothing to worry about.

Annie, I hope not either. The doctor's office called me back and my appt to see the geneticist isn't until August because they are that booked up with patients (mostly kids), since apparently kids usually go see a geneticist when they are young, when there are problems apparent (like extreme growth or lack of growth, etc).

I hope to find out what really is "wrong" (that's not the right word though) with me and what kind of a medical impact it will have on me as I get older.

good - I hope you find the answers you are looking for. your mother should have done that herself while you were a child.