Post by chickypoo2468 on Feb 7, 2017 22:21:46 GMT -5
That's pretty much how our appt went. They even gave us like a power point printout of all the variants and what they mean, but they don't actually mean anything because they don't think the findings are what's causing anything. I'm like I drove 5 hours for what exactly? Lol We're also in the waiting for them to compare our DNA with his phase and then onto whole exome testing.
So basically I have nothing to offer except solidarity. Oh, one thing they told us was that with the WES they rerun it every year, so at least you don't have to keep doing blood draws and stuff. Hang in there!
Post by mrsbuttinski on Feb 8, 2017 7:32:48 GMT -5
I'm sorry stratto814, It's frustrating and exhausting.
I do think it's worse when you come away with no dx as you did. But sometimes even when you do get a name for what is happening with your child, you don't really get the prognosis you need as a parent to plan effectively.
It's a tough pill to swallow having them find something but having them not know at this time what it means. However at Columbia they are doing a lot with exome sequencing and finding a treatment for rare diseases. They also just named 22 new rare diseases and treatments this year.
We are in the same boat as they have no experience with a known gene because my son has a rare mutation and they don't know what to make of it.
6 m/c, 2 IVF w/CGH,1 IUI, TI
DX: Anovulatory cycles,Implantation Dysfunction, APA
High TNF, Low NK Cells
Treatment:Humira, IVIG, Baby Aspirin, Lovenox/Arixtra, High dose Folic Acid, LIT Treatment Mexico
1 Miracle born Aug 2013 Premature
1 Miracle born March 2015 39 Weeks
Miracles brought to me by Beer Immunology
Yeah sometimes I feel like if it is an exact match to something that they have and there is a clear treatment for then it can be helpful, but so often it falls into this we don't really know stage or everyone presents differently. So you are basically back to where you started where you are just treating the symptoms like you would have without the testing.
I suppose it is good to know if you were to have more children.
I don't know your whole backstory, but with DD, we went through a LONG time of not knowing why she was having seizures. We noticed them at 18 months or so and it wasn't until well over a year later that we had any suspicion of the cause. It was a long, frustrating process.
Genetics showed nothing - she has the same inverted chromosome that DH and half the folks on his side of the family have, but it's not related to epilepsy, and no one in his family has any ill effect from it.
Hopefully you figure out what's behind them and/or a great treatment plan.
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