- Pregnancy
- Baby & Toddler
- Parents
- Getting Pregnant
- Baby Names
- Product Reviews
-
Registry
- Community
-
More
Want a personalized experience?
Download the free app
Success after IF
browneyedgrl4282
member
Update on our appt at Boston's Childrens
browneyedgrl4282
member
We took Jordana and Brady up to Children's in Boston and wow sums up that hospital. I have never seen such a well organized hospital in my life. Very impressed.
Brady - Genetics agrees something is wrong. They said that he has a very large head (already knew that), is very tiny height/weight wise, droopy wide set eyes, pit in his ear loop along with very small low set, mentioned his nose is too defined, deformed very long toes/feet, pinky curve, and his thumb are turned in. I felt like they were ripping him apart. They basically thing he is either missing something genetic wise or has something doubled. They ran every blood test under the sun to get genetic/dna issues along with some other stuff. They do however thing whatever it is has comes from my husband and no me but they want to test all of us once his blood work comes back.She also said way too many things have happened with him with "birth defects" and that sets off a red flag too. She mentioned that hypospadias sometimes is from XXY disorder but she can't confirm he has that yet either. I felt like that appontment lasted forever but it was about 2 hours, I think. She gave me her personal cell phone number and said to call her in 2 weeks to see if the tests came back and we go from there!
Jordana - they did the one test on her but it didn't give them enough information on where the hirschsprungs was. They are sending us back up there in the very near future (won't know exactly when for a few more weeks) and she will under another test while under general again. We will need to be up there for a few days this time (likely a week) and he said he may even do the surgery while we are up pending what happens. He said I should make arrangements to be up there for 5 days at the very least and have someone else with me to help with the other kids or leave them home. We will all being going up because we arrange it so Brady's follow up and our testing is done in the same time frame.
Warning
No formatter is installed for the format bbhtml
This discussion has been closed.
Re: Update on our appt at Boston's Childrens
It is overwhelming and add to the fact no one knows what the issue with Preston with the seizures! I am hoping it never happens again but my luck sucks.
Sounds like a very intense visit. Hope you get some answers...
Just wondering ...who did you see up here? My son sees a geneticist (Dr. Nowak) at Children's and had a Hirshprungs test there too (with Dr. Fox);..just wondering if you saw either of them.....
This! (((hugs))
How overwhelming. I just want to give you a huge hug right now. I hope you get clear answers very soon so that you can move forward with detailed information...the more you know, the more in control of the situation you'll feel. Take good care of yourself.
Our GI up there is Dr Nurko and our doctor in genetics is Dr Curo.
Hugs. I know it can be very overwhelming to listen to a laundry list of what is different about your child. Hang in there.
I have a followup question about this statement...
How can they possbily know this by a physical exam? (!) I am surprised a geneticist went this far into causation without test results. (!!!!!) Give your husband a big hug from me. Unless your husband has many of the same physical markers, I think it was sort of irresponsible for them to say something like this. It is all together possible that your child has a "de novo" or unique change to his genetic makeup. If he does have a duplication or deletion you may never know the cause. That is the situation we are in with our son and frankly, I am o.k. with this. I can just imagine the guilt I would feel if I knew I passed something to him.
Hugs again and good luck.
This.
So sorry you have to go thru this at all but I'm so very glad you seem to be in such great hands.
Hope the answers (and solutions) are coming soon.
Total score: 6 pregnancies, 5 losses, 2 amazing blessings that I'm thankful for every single day.
This. exactly.
There are a few reasons why they think it comes from my husband, one being that he had extremely difficult time in school and delayed in everything he did from very early in life. My husband also has XXY (Klinefelter syndromestarted) which we only found out from going to the RE so they "think" that Brady could also have this given that he was born with hypospadias (my husband does not have hypospadias though) which has been linked to some cases of XXY.
Another issue is our knowledge of medical back round in my husband's family is very limited. No one in his family until recently saw doctors (recently meaning 20 years max) for anything. I pretty much have my entire family medical history going pretty far back and one thing we do that came from my family is Pyloric Sten issues. No one knew back then (in 1940's) that it was that but my Aunt & Uncle had a baby that died from it.
Ahh. O.k then I guess they have some reason...
I happened upon this website while doing research for our son, Nate, who has a brain condition that causes developmental delays.
https://www.thefocusfoundation.org/FF/index.php
I found it while looking for information on a Dr. Carol Samango-Sprouse who is in Annapolis/DC and is a neurodevelopmental pediatrician. She does extensive work and research on kids with XY issues and how they learn. Hope this helps and Good Luck again!
TTC #1- unexplained...lost left ovary 4/07 IUI #1 2/10/09-BFN IUI #2 3/5/09-BFN IVF # 1-BFP
TTC#2- FET 4/7/11 BFP, Natural mc 5/5/11 IVF#2 ER 9/13/11, ET 9/16/11, Beta #1 9/27/11 BFP 254 Beta #2 9/30/11 793 -Twins!
Unexplained Infertility
After two Clomid cycles, three injectable IUI cycles, two IVFs, two miscarriages, and one lap surgery, IVF #2 has brought us our little boy!
TTC #2
After months of being postponed or cancelled, FET #1.3 (Natural FET) brought us twin girls!
Oh Man! That is a lot to have on your plate! I am sorry this is your reality!!
Hang in there, you are doing a great job!
Our geneticist agrees there is something "off" with Matthew and went so far as to say she felt it was the same 16p that Chris has but the tests aren't showing up with it. He has the same body type/look as Chris and the have similar delays. It is possible to know there is something genetically different with a person just by looking at them. The perfect example is a kid that I taught. They knew there was something genetically different but couldn't have a test show up with anything until 2 years ago when it came back that she has PWS.