View Full Version : update on my other post about amthony being mis diagnosed

04-07-2009, 11:15 PM
after some research myself, i am 99.9 percent sure that anthony does have upd14. now the question is did it come from me or tony. i found that he has some signs from me and some from tony. the narrowed chest useally comes from the father. tony is no where near ready to know that there is a 90 percent chance that upd14 cam from him ( we were told that when they were firt testing us 3 yrs ago ) nor do i care who it came from. he is our son and we loive him no matter what the "lable" is. i just want it documented that he has it so we can get proper treatment medically and developmantal wise.

i am excepting that he probably has this, but i know tony is not ready to....and it hurts me the most to know that he is upset that he either got it from me or him....i wan to explain to him that it does not matter, but he will still blame himself........arell men that way?

i am going to call dr krakow tomorrow for some advise

04-08-2009, 07:27 AM
Stephanie, does it really matter where it came from?? You and Anthony have a perfectly healthy younger child, and Ariana is healthy as well. Certainly, it's best to know practically -- since Ariana has a different mother. But for right now, that's not important. What's important is getting a diagnosis, so you can get a proper care plan.

My Kate has Sticklers Syndrome that likely came from one of us. We chose not to find out because for us it doesn't matter. It's just important Kate and the boys know she has it, so they can take the proper steps when and if they decide to have kids of their own.

Frankly, I'm not sure Brad would like to know if it came from him.

04-08-2009, 07:30 AM
I wouldn't worry who it came from, right now. Just worry about getting a definitive diagnosis and you can worry about the origins later. I'll keep you in my prayers and hope that you get some concrete answers soon. :hug:

My little figther
04-08-2009, 07:47 AM
You are right it does not really matter who it is coming from. What is important is to have the correct diagnosis and to have the proper medical care but most importantly is to know that Anthony, no matter what is loved by both of you. Men in their minds are problems fixers and take the blame when things are not going according to plan. First take the diagnosis in then worry about its origins later.


04-08-2009, 08:23 AM
I understand what you are saying. Luke's condition is like upd14 in that it likely happened from a random genetic mutation. So basically it came from either me or Rob, but was nothing we had control over or that would probably happen again. I understand that in upd14 you can tell if it is from the mother or father by the symptoms. That would be hard to know. And like you, I think my husband would have a harder time than I would. I am glad we don't know for just that reason. Even though it is realistically no one's fault, you would still feel guilt which you have to get over. I have had 3 miscarriages and every time I felt guilt over the fact that my body couldn't carry the babies even though I knew there was nothing I could have done. Later I found out my miscarriages were caused by a blood clotting disorder and if I had taken baby aspirin I probably wouldn't have lost the babies. But then that would mean that I wouldn't have the children that I have now. So no matter how painful, I can't wish the past away, because that would take away the good things as well.

I know this is a very difficult time for you right now having Anthony's diagnosis changed. I hope you find peace with whatever answers you find.

04-08-2009, 08:42 AM
I agree, maybe it doesn't make to find out where it came from now. Especially if that is going to add stress. What is important is that both parents know what to do if they are having future kids with someone else. Also, I'd want to know if all of your kids need to have a plan and some knowledge before they have children of their own.

04-08-2009, 09:31 AM
:hug: Stefanie, as everyone else has already said, it's not important who this came from. what is important is getting the right care for anthony and finding out where the future lies in terms of your grandchildren. I think most men would find it difficult to deal with as it is in their nature. Sams condition is x-linked, which makes it pretty obvious that his problem came from me, but I will live with that, and my family is complete, so it is not an issue for the future.
Lots of love
Julie xx

04-08-2009, 10:56 AM
I read a little about it last night, and from what I understand, it doesn't "come" from either parent, it just means that his body decided to kick out part of his genetics and double up on one parent's. It doesn't mean that either of you "gave" him this condition. It just means that there are different symptoms based on if the chromosomes are maternal or paternal.

At the end of the day, a proper diagnosis will help everyone in the long run to plan his care. Stay strong!

04-08-2009, 11:19 AM
As you have said, regardless of the diagnosis, you will love him. You only need the correct medical care for your son.

As for who it came from- it is the result of a genetic mix up that neither you or his father had control of- sometimes stuff just happens.

04-08-2009, 12:15 PM
I read a little about it last night, and from what I understand, it doesn't "come" from either parent, it just means that his body decided to kick out part of his genetics and double up on one parent's. It doesn't mean that either of you "gave" him this condition. It just means that there are different symptoms based on if the chromosomes are maternal or paternal.

upon reading some more i came across the same thing, that the embryo trys to correct itself but ends up keeping both genes from one or the other parent.

i talked to tony, and i told him i want to make sure he does in fact have upd14 but i do not want to follow threw with anymore than that. and it is clear that it can be diagnosed threw xrays/mri/ and a cat scans....

this is the second time we have been told he probably does have upd14 and well the third time is a charm, i am going to ask to see a 3rd genetists at CHLA just to see what they say.....and i would like pulmo to be with us so THEY can start figuring out if he is going to have to have the vent for good.

04-08-2009, 05:31 PM
Hi Stef,

You sound like you're getting to grips with this new probably diagnosis. I found this neat leaflet from the charity "Unique":

UPD 14 (http://www.rarechromo.org/information/Chromosome%2014/UPD%2014%20QFN.pdf)

The hypotonia and joint laxity may also explain why Anthony has been reluctant to stand and walk. It may be uncomfortable for him. What things about the symptoms of UPD 14 made you think that it was more likely for him than Jeune's?

04-08-2009, 06:05 PM
kate these are all things that anthony has that i can pick out that match up

Short stature, small for dates in pregnancy,
small hands and feet, but relatively large head
Slight delay in reaching physical developmental
Normal intellectual ability or mild learning
Speech delay
Hypotonia (floppiness, low muscle tone) and
unusually mobile joints.
Excess amniotic fluid during the mother’s pregnancy
Small chest and narrow ribcage, causing
underdeveloped lungs and severe breathing
Moderate to severe learning difficulty
Abdominal wall hernia. A visible ridge of muscle
runs from the breastbone to the navel. Surgery may
be needed if a hernia develops

that is what i have been able to compare to anthony

04-09-2009, 06:19 PM
Yeah Stef, I read about the abdominal wall hernia and possibility of an omphalocoele (http://en.wikipedia.org/wiki/Omphalocele). If abdominal defects are possible, might there be something wrong with his guts to give him the problems he's been having with gas and constipation, like a narrowing of the intestines? I hope you get some answers soon.