Mystery of Hydrops Resolved?

[MahwahFresh]

This seems unrelated, but I will get to the twitching part I promise. We had a very difficult pregnancy with my daughter. For all you mds she had hydrops in utero. this resolved and she was born healthy. She is almost two now and the drs are still mystified as to what happened. therefore, the whole family has had to undergo extensive genetic testing. We just got the call that they did find a minor deletion, one gene to be exact, in me and my daughter. They are not sure exactly what this gene does but have not identified any problems with a deletion of this gene and they are calling it a benign variant. Here's the twitching part. They did say I should update them with symptoms we are having so that they can help identify what a deletion of this gene does. so I told them about my twiching and they were very interested. So, if any of you should happen to have a genetic microarray in the future, let them know about the twitching. Maybe we can identify a gene related to bfs.

 

[Krackersones]

There are genetic conditions that cause twitching. I think the acronym is CMT (Charcot-Marie-Tooth)? I researched this awhile back and found a discussion board on it. There were threads where members discussed twitching as something they were experiencing. I asked several neuros about this and they said it was a possibility but there is no real specific treatment for it so insurance companies do not pay for the testing. The treatment would be the same as for another neuropathy causing the same symptoms so the test does not change what doctors do with you it only gives you knowledge and peace of mind which insurance companies do not care about. CMT can be very mild and in fact some people do not know they have it until one family member gets a severe enough case to warrant testing and then others are testing and found to have a mild version.

 

[MahwahFresh]

One thing I did learn through all of this is genetic testing is becoming very advanced rapidly. two years ago we paid two thousand dollars out of pocket as it was considered experimental. this time, we had it done through insurance, just a simple bloodtest. Perhaps in the future people could have genetic testing done that would give them peace of mind. It may be a while off, but hopefully it could happen.

 

[EyeoftheWild]

Your daughter is healthy, how wonderful. I have two daughters and my life is immensely more rich because of them.This other stuff is a load of nonsense, however. Many people here have exploded into twitching after "reading" about als. Bfs is not genetic, unless you consider everything that ever happens to a person to be genetic. Maybe dandruff is genetic...who cares. It amazes me how everyone wants to have a label and to identify themselves as having a "problem." We are alive on a planet teeming with life...isn't that unique enough?Basso

 

[MahwahFresh]

these genetic drs. truly believe everything is genetic. Our daughter didn't gain weight for two months and they wrote in the report that they believed that was caused by a genetic problem. we knew it was because she didn't eat enought. We are very grateful for our miracle daughter and our two sons. We are happy to live in ignorance about what caused her condition. You are right, sometimes just accepting what you have as part of who you are and not digging deeper is better.

 

[Krackersones]

EyeoftheWild,There are clearly people who read about scary stuff, get anxious, and experience physical symptoms. However, I do not understand why you write posts that assert that this is the case with everyone here. Do you really not believe that genetics can effect someone's nervous system? While few of us may have a genetic cause for our symptoms, it is possible that some of us do. These people exist according to medical science. If you have a genetic cause, it may be worth knowing. Certainly, you have the right to know if you want to and you can decide if that knowledge is important to you. I know you mean well in that you want people to focus on enjoying life and not all the problems that come with it as they are part of life. But you lump everyone together and seem to invalidate the existence of real problems that may lead to real, life-improving answers through medical knowledge. Just because some people do not have a health problem and twitch from anxiety does not mean everyone here does. Your post is insulting to those with a real problem in my opinion.Krackersones

 

[fadel.winona1]

I have to go with Basso on this. Example: I have 3 generations of women in my family with autoimmune diseases of various types. Research has shown autoimmune diseases of all types probably have a genetic component with an environmental trigger and they are for the most part more common in females. I have 2 girls. Both healthy, ages 11 and 7. Are they at risk for an AI disease? More than the average person without it in their family, yes. But we can't worry about what *may* happen. I don't even mention any of this AI crap to my daughters, and won't. Because once you plant the seed of worry and doubt, it can take root and grow even in the youngest of psyches.

 

[twinTwosome]

Anxiety can certainly be genetic and BFS has a HUGE anxiety component. As for the syndrome itself, dunno.

 

[Krackersones]

I need to clarify my position on genetic information. I see no reason to tell anyone about genetic history if there is nothing they can do about it. Yes, it will cause worry and if nothing can be done there is no benefit. BUT, in some cases something can be done and in some cases that something may make life better even signficantly better. A lot of people here say their twitching does not bother them. Mine bothers me a lot if I don't take medication for it. Other genetic conditions also cause real pain/discomfort/disability and knowing about the genetic component can lead to positive intervention. My husband's grandmother (and all her siblings) and my husband's father (and all his siblings), have diabetes. My husband barely knows this side of the family including his father but was told about this so he could watch for symptoms/signs of diabetes (he hasn't had any yet) and take action to prevent the damage it can cause by being on top of it early. I really don't understand why people do not recognize that all situations are not the same and you spout generalized advice without knowing the complexities of an individuals situation. I think most people can recognize when someone's advice is lacking the knowledge of their individual case but sometimes people are made to feel guilty for wanting to take charge of their health. Taking charge of your health in many cases is life affirming and not necessarily a sign of weakness.

 

[kschoenhaut]

If you got the guts u can take a kit from 23andme and get tested for genetic risk factors to different diseases. but if some incurable or unpreventable one pops up youre screwed mentally for ever and ever and ever. Knowledge is power but its a double edged sword...