Does anyone have a family genetic disorder?

[cajunmom]

I would definitely pressure him about being tested and would have DS tested regardless of H being tested or not. IMO, it's about being able to prepare and protect while you still have time.

ETA: That isn't even what you were asking. No, we don't have any family genetic disorders (that I know of) but our extended family is not close at all so we probably wouldn't even know if something was going on. I haven't seen any of my cousins in years and years. 

[lurknomore]

PDQ

deleted for privacy

[mrsfarmer]

I have a genetic bleeding disorder but we don't know where from - probably paternal grandmother. All of my siblings were tested and came up negative, but it is a dominant gene and genes can spontaneously mutate later in life to develop it. Mine was diagnosed when I was young because of my awful nosebleeds.

DD1 most likely has a genetic disorder from her birth father's side of the family, but they never developed anything or got tested until middle school. She's 3 now and I'm thinking we need to get the genetic testing done so that she doesn't develop the issues birth father did. Also, some of the wonderful posters on ML know about it and said we should look into it.

[imojoebunny]

My BIL has a rare genetic Syndrome, it effects muscle control and things like the ability to drive. DH was tested for it and does not have it. It is "believed" to be maternally passed, so unlikely the kids would have it.

Could he go to an "any test" lab that allows people to be tested and not use his name? He would have to pay cash, but it might be worth it. I understand his fear.

[rubytue]

Somewhat related - I'm adopted with zero knowledge of anything genetic. I have seriously contemplated genetic testing just to see what is there, but the thought of what it could find scares the crap out of me. Would I want to know now about what might happen? I mean, I've already had cancer once, I'm not the healthiest person in general (I get lots of weird things).

So maybe not useful, but another perspective.

[shamrockshake]

we actually have MD in our family too, it wasn't discovered until about 5 years ago, when I was pregnant with my 2nd. My cousin was diagnosed and from there, my aunt (his mom, my mom's sister). There was a family kerfluffle about it because my grandparents refused to be tested to see if they are carriers and therefore if potentially the rest of my mom's siblings could be. In the end my mom got tested- I am one of 6, and she wanted to spare all of us the potential wonder/ testing if she wasn't, and thankfully she was negative. I think one of her other brothers was tested and negative and the rest decided not to find out.

[lys]

Seriously nearsighted . Everyone for several generations has started wearing glasses before age 6.

[btay]

My mom and her father both have/had alpha one deficiency.  There is a 25% chance I have it as well but I refuse to get tested until I start showing symptoms.  I talked it over with my doctor and since there is nothing that can be done before symptoms emerge she is on board with my decision.  I think that is ultimately what makes me comfortable not knowing, because even if I knew it wouldn't change anything about how I live today except for maybe making some slight alterations to retirement planning

[bunnysmom]

Dh's sister has a rare genetic disorder, so before we got married dh got tested to check if he was a carrier. The dr specialized in genetics was helpful, but she couldn't do much without running some additional test on dh's sister. At the moment his parents refused to give consent to the tests and a few months later sil passed away, so we will never be able to completely answer the dr's questions. Honestly, I'm still angry that my inlaws didn't agree to just a bloodtest of sil. We are not having kids, but if we were, I guess we would adopt or do ivf with extensive testing. There is no way we would take a chance after watching sil suffer so much.

My take in this is that denial doesn't help, it only makes things harder.

[gibbinator]

There is a fairly aggressive form of colon cancer that hits almost all the men on dh's side of the family. Going back 3 generations from his grandfather, they've all died in their 50s.
The good news is that it's now treatable if caught early, so starting in their 30s as far as I know, all the men have started getting colon exams. Dh hasn't yet (he's 31) and I've been nagging him about it recently.

[rooster222]

My dd has a genetic disorder. Initially, we did not know if one of us passed it to her so we saw a genetic counselor. It turns out that she has a random mutation but we wanted to be sure before we had more kids.

We have been denied life insurance for her in the past. I did come across a company that offered a small policy but she had to go 12 months with no hospital visits to qualify (which fortunately she was able to do.)

Good luck with the testing and I hope you get good news. I'm definitely in the camp of wanting all the information.

[matildasun]

@domerjen, my closest friend has a brother with MD.I shared your post with her to get her perspective (I saw your post while I was on the phone with her) and she wondered if you knew what type of MD it is?

[mlt]

Poof

/ To me, knowledge is always power.

[demelza]

Yes, my father has a genetic disorder that affects his lower leg muscles He has leg braces to help him walk. When I was pregnant I worried about my son's chances of being affected.

We went to a genetic counselor and I had a 50% chance of getting this disorder, and each child I have will have a 20% chance of getting the faulty genes, if I do in fact have the disease. I have no symptoms so far at 30 years old - I hope I don't have it but it is possible I have it and just won't have severe symptoms or they just haven't shown up yet.

The genetic counselor said having my Dad get genetic testing would make the most sense because there are many variants of this disease and it effects how it is replicated. (Testing me or my son would not make as much sense as testing my Dad first.) My Dad hasn't gotten tested and probably won't even though I told him that is the easiest way for us to know what we are dealing with. He says he is put off by the expense. The more genes they test the more it costs and it is possible they haven't even mapped out his specific issue yet. I really wish he would do it but I can't make him.

[af1212]

Everyone on my dad's side is affected by something called Dupuytren's contracture.

It was passed from my great grandmother to her three children, and has so far affected two if my grandmother's three children. Symptoms begin later in life (in late 60s in my family) and it is not life threatening. The tissue if the hand contracts, drawing the fingers into the palm. Some of my aunts a and uncles have been able to have surgery to lessen its affects and others have had to have fingers removed.

I fully expect to get it someday but am not concerned since it is not life threatening and doesn't occur until so late in life.

I'm sorry that your family is having to make such difficult decisions.

[Marmee]

Well I have a genetic autoimmune disease...only myself, 1 first cousin & my grandma have it for sure. None of my kids have had symptoms yet & I had by the time I was DD1s age. I would test them if I felt it was advantageous but I would hate for my spouse to pressure me to test myself.

On related note, my DD3 has low tone & I did have her genetically tested at about 1yr old. The Pediatrician tested her for MD among other things just to be sure. Everything came back normal so the cause is still undetermined at 6yrs. She quirky but I can't say what is going on with her beyond that. Whatever issues she has I strongly suspect are from DH because they are very similar (sensory issues, eating extreme pickiness, etc)

[chia]

My nephew was tested for MD, but his issues turned out to be related to a brain injury of unknown origin (they think... TBD).

Sent from my SPH-L900 using proboards

[rooster222]

Jul 6, 2015 19:04:00 GMT -5 @domerjen said:

Jul 6, 2015 18:15:16 GMT -5 rooster222 said:

My dd has a genetic disorder. Initially, we did not know if one of us passed it to her so we saw a genetic counselor. It turns out that she has a random mutation but we wanted to be sure before we had more kids.

We have been denied life insurance for her in the past. I did come across a company that offered a small policy but she had to go 12 months with no hospital visits to qualify (which fortunately she was able to do.)

Good luck with the testing and I hope you get good news. I'm definitely in the camp of wanting all the information.

Do you remember how much the test was?  I'm tempted to not wait for the insurance authorization.  We have a thing at DH's work that reimburses us for medical costs (we pay a monthly fee for it) that aren't covered by insurance, so if it's not excessive we could submit it there if needed.

We will definitely take a large policy out on DS before we test, just in case.  I worry about my BIL b/c he can't get any insurance so far.  I would think it'll be a real hardship to plan financially for that if they have kids.

We didn't have to do an actual genetic blood test. At the time the only test available was not 100% accurate. There are several physical markers that are typically used to diagnose. Neither of us had the markers but they thought dh was more likely a carrier than me so he had a full body x-Ray. It did not show anything though so we were both cleared.

[Deleted]

Good update about testing, Dormer.

My MIL and her brother live with an extremely rare form of Lukemia. She's able to take a pill everyday to keep it under control, and for the most part has been able to go on with her life. It is apparently not genetic, yet very odd that she and her brother have it. H hasn't been tested, nor has DD. It's in my brain though and a possible source of future problems.

On my side, there is just alcoholism and potty mouths.