New Born Niece Has Edward's Syndrom

[Moontiger]

My niece is just three days old. The doctors think she has Edward's Syndrom, I won't go into all the details but its very serious. There is a 1% chance she will make it past the age of ten and the quality of life she will have is questionable.

 

Does anyone have any experience with this disorder?

[Seraphim]

I don't have any experience with it. But I just wanted to say I'm sorry. Hugs.

[Moontiger]

I don't have any experience with it. But I just wanted to say I'm sorry. Hugs.

 

Thank you. I wish I could have stayed longer with them but I had to get back to school...

[Cheetarah]

I don't have experience, either. I'm really sorry to hear this.

 

I don't want to raise false hope or anything, but I know genetics takes awhile to come back and it sounds like it isn't a certain diagnosis? Did she have any diagnoses made during the anatomy scan?

 

When my son was born, he had an odd presentation(head/face shape). The neonatologist and his team thought that it was something called craniosynostosis, as a secondary symptom of a genetic disorder because he also had palate issues and low set ears. They were able to rule out the craniosynostosis with a CT, but they were still baffled. In this case they thought perhaps Chotzen, Crouzon, etc. Genetic testing took several weeks to come back(ultimately normal) and we went home after a week in the NICU because he was thriving, and continued as an outpatient. Ultimately, he was wedged in my pelvis at an odd angle with his big head, suffered brain damage which almost 2 years later appears not to have affected him at all. The swelling from being wedged distorted his features tremendously when he was born.

 

I know, it's not like T18 or anything...But they were so certain...And they were wrong. I am not the type to try and push false hope, I just wanted to share that incase..

[Moontiger]

Thank you for this story. There are some "soft" signs of the disorder. Her eyes are slanted similar to what you see in Downs Syndrom and a few other little things. She had a kidney and livery test today (results not back yet) and will have a heart echo done on Monday. She had some other tests down but I cannot remember what they were. She was also a smaller baby than my sisters other kids (both 9lbs).

 

I shouldn't alive, lol, I was only 4lbs when I was born. My mom has had many, many health issues over the last few years some of which were partly caused by doctors messing up. So, I guess, I'm hoping that things will turn out alright.

[Cheetarah]

I hope they do, too. Have her other tests come back favorable or are they pointing to Edward's as well?

[Moontiger]

I hope they do, too. Have her other tests come back favorable or are they pointing to Edward's as well?

 

i think its one of those, some do some don't. Most babies with this are not born alive, those that are tend not to eat well, but my niece is eating very well.

 

Most babies born alive live about 15 days, only 8% make it to a year old. 1% make it to 10.

[luminousone]

So sorry, MT. Prayers for her and your family...

[Madamdiva007]

My sister had it.

[Madamdiva007]

My sister had it. She lived to be 19, almost 20, but as you know that is extremely, EXTREMELY rare. So I have 16 years of experience with it (she was 3 years older than me).

[Moontiger]

My sister had it. She lived to be 19, almost 20, but as you know that is extremely, EXTREMELY rare. So I have 16 years of experience with it (she was 3 years older than me).

 

Wow! Ya, that is extemely rare. Could you tell me about you quality of life? If you want you can PM me.

[Madamdiva007]

It was very, very difficult. My father was not in the picture and wasn't paying child support. My mom was forced to work jobs in the school district so she could have the same schedule my sister had, but they were always assistant jobs because she didn't have a college education. We were on welfare when I was young.

 

My sister couldn't walk, talk, feed herself, and was in diapers. She was in and out of the hospital all the time. She suffered severe osteoporosis, and suffered many broken bones because of this. She also had severe scoliosis and had rods put in her back when she was young, but they ended up growing out of her skin and had to be removed. Later on, my mother took her to another orthopedic specialist to look into correcting the curvature of her spine, but the surgery was incredibly invasive and required removing some of her organs to get to the spine. The chances she would make it through the procedure were very slim and my mom just couldn't do that to her.

 

The scoliosis was so bad that one of her lungs was collapsing, which led to a lot of respiratory infections. She also had to be permanently put on oxygen the last few years of her life.

 

All her food had to be blended, but she did not have to be fed through a tube or anything. She also had CP and a heart defect.

 

BUT... she was a happy, happy child and she was LOVED! My mother calls my sister her passion, and truly, she was. She touched everyone around her, all her special needs teachers loved her and I had friends that just adored her. She loved cartoons, and classical music, bright colors, soft toys. We always had animals growing up because we never had the money to go on vacations, so the pets were kind of our escape. And boy, did my sister love those critters, and they loved her. She was a sweet, genuine soul and never knew a moment of unhappiness, of that I am sure.

 

But it was very, very difficult. I remember going through numerous amounts of care providers for my sister because my mom was so picky (and rightfully so). Eventually we had to get her a specially made wheelchair because her scoliosis was so bad.

 

She died of pneumonia after a tough year of oxygen dependency and constant respiratory infections. It was tough, I had never been through something like that in my life, and my mom was beyond heartbroken. After spending 20 yearstaking care of this child all by herself who was completely dependant on her, she was gone.

 

I think one of the toughest things about growing up with my sister was knowing that any day she could pass. I think I always sort of kept her at arm's length in a way because I knew it was inevitable and it was too painful to think about. I regret that.

 

But all this being said, I will say T18 babies are very, very special. They are sweet, and loving, and seem to be so happy.

[Madamdiva007]

Sorry, my post isn't so fluid and is kind of all over the place. There's a lot to say

[Moontiger]

Thank you madamidiva for you story. Two things my niece does not have to worry about are 1) Being, very, very, loved 2) Getting the resources she needs. We are lucky in that way, a close family friend has contacts with some of the best hospitals in the country and both my parents had very successful careers.

 

I must admit that is one of the parts that is kind of breaking my heart. If she need medication, surgery etc we could do it, not matter the cost. With T18 there is nothing we can do but make her comfortable and love her to pieces. There will be a round of test results coming in tomorrow and more test on monday. I hope there is some good news in there.

[Firiel]

I'm sorry you are going through! I have nothing to add-- just wanted to tell you I am sending prayers/good thoughts your way.