hi. as of just recently my wife and I had a 19 week ultra sound. we were hoping to find out the gender so we could be a bit more ready for when the baby comes. later the day of we get a call from our midwife explaining that she doesn't deliver babies with problems. so of course we start to worry right away. she sends us to a specialist at a women's hospital a hard few days later.

We got to the appointment, which was made, because they found two light spots on the ultrasound photo and need a closer look, a short we sit down with the geneticist at the hospital. she gave us four scenarios that it could be, the least going first. could be ok nothing wrong, or to it having bowel problems, to cystic fibrosis, which we needed a blood test for, and then down syndrome.

the blood test takes two weeks, we have an option to amniocentesis which can now tell in three days, but a 1% risk of an miscarriage. we took the chance. the results came back three days later, we sat down with another nice doctor and concellor. the results came back with 50% normal cells and 50% with the other half with the extra chromosome which is call Mosaic Down Syndrome.

we were devastated..... we had three options. first was to terminate which we though about. second was a heart ultra sound to see how it was doing and finally do nothing. so we booked an appointment for both 1 and 2 then went home and wept asking why did it happen to us we are a young healthy couple...

after a hard few more days and with alot of support from both families, and alot of prayers and advice we decided that this baby is going to be the most precious gift from GOD. we has a plan for all of us and tests us in many ways. in HIM anything is possible. we cancelled both appointments going on faith knowing that GOD is with us and loves us always. HE gives us strength when we need it.

Be strong for one another and know that HE never gives us more than we can handle. GOD bless,

I will update and tell u how its coming along.  BTW, my wife is now 21 1/2 weeks.

p.s we found out that its going to be a beautiful baby girl!

which we already had a name for before all this happened. my Oma's name Thea. in Greek it means GIFT FROM GOD. that is incredible.

thanks for reading..love u all.

Our beautiful son, Aidan blessed us with his presence May 14th 2010. After a complicated natural delivery he was rushed to the NICU because he had fluid in his lungs. My husband Brandon went with him. I didn't get to see him for two hours! I was wheeled into his room. He had a big oxygen dome over his head. At that time all I cared about was him recovering and coming home, but the Pediatrician felt it was the right time to say, "Your baby has some characteristics of Down Syndrome.  We would like to take blood for genetic testing."

It felt like my mind was trying to process a million different things at once. I found myself down an unexpected path in life. Finally at 1am I held Aidan for the first time, it was euphoria! A calm came over me and I knew this path was perfect for me, and everything was going to be alright.
(I'm leaving out the awful story of the OB, but if anyone needs to vent about terrible Doctors, I'd be happy to share.)

A few weeks later we found out Aidan had a hole in his heart (VSD) that would require open heart surgery when he was 6 months old! I was completely terrified! It's been almost 5 months since he had the surgery and he's doing great!

If your child needs surgery and you need someone to talk to please feel free to contact me. I definitely felt alone during that time.

Aidan just started motor therapy, speech therapy is next. His favorite person in the whole World is his 10 year old brother, Jesiah!

He's breastfed, and loves pureed baby foods. He has issues with constipation so far the only thing that's helped is goats milk yogurt. He doesn't sleep very well...any suggestions would be greatly appreciated:)

Aidan is a happy, healthy, and strong. He's my guy and I feel honored to be his mother!!!

Much love goes out to you all!

Tenho uma filha com síndrome de down por mosaicismo,graças a Deus ela é uma criança saudável, não teve nenhum comprometimento.

A minha maior preocupação é com relação ao desenvolvimento dela na aprendizagem, pois percebo que as escolas não estão preparadas para esta realidade e não sabem como lidar e nos mães ficamos perdidas sem saber a quem recorrer.

Gostaria de obter informações de métodos de alfabetização para poder ajudar minha filha em casa e até mesmo passar para a escola.

Os anos passam e o desespero vai aumentando, vendo que não há progresso ou está muito lendo.

Tenho fé que vou ver minha filha independente, buscando os seus objetivos e alcançando os seus propósitos, mas para isso preciso da ajuda de vocês.

Desde já agradeço a atenção e o espaço.

Rosi    

English Translation (using google):  I have a daughter with Down syndrome mosaicism for, thank God she is a healthy child, had no involvement.
 My biggest concern is with respect to the development of it in learning, because I realize that schools are not prepared for this reality and do not know how to handle and mothers we lost not knowing where to turn.
I would like information literacy methods to help my daughter at home and even go to school.
Years pass and desperation increases, seeing that there is no progress or is very slow.
I have faith that I will see my daughter independently, seeking their goals and achieving their purposes, but for this I need your help.
I thank the attention and space.  Rosi

I study in medical academy, and have understood, that it means. It has ýïèêàíò, a strip on a palm, curve ìèçìíåö, a flat nose.   Have caused genetics for consultation, it has given up to us in the genetic analysis. Ãåíåòèê has told, that at the child is not present SD. But I have insisted on the analysis. In 2 months we have learned, that Deni MDS =17 % (problem cells). This news has found me unexpectedly. The husband has woken me in 7 mornings. The husband has told that the geneticist called and has invited us for conversation. At that point in time I have thought of the worst. Also asked god about that the son has appeared not DS.  I didn't want to live. I had a strong hysterics.

We have arrived to the doctor, she has informed results Has told that percent not too big. The doctor has told that should be shown nothing in the son.   At first I was delighted.   But now I constantly peer at the child, I search at it for signs DS. It seems to me that all something notice in it.

I am afraid of uncertainty. I am afraid that it will be not such as all.

Now to the son 4 months. It babbles, turns over, holds a head. Costs with support Also at it a heart disease.

Fighting for her daughter's rights
by Bill Warner

September 4, 2010
Lebanon Daily News (Lebanon, PA)

Wendy Smith never considered herself a crusader or someone who would stick out in a crowd. But that all changed, she said, when the system failed her daughter, Heather Sholley, who was born with Mosaic Down Syndrome.

Despite her disability, Heather, now 26, two years ago found herself in a very typical situation for a young adult - she wanted to leave the home she shared with her mother and go out on her own.

This presented a Catch-22 situation for Smith. Heather was legally old enough to get her own place, but wasn't ready to live alone. Studies have shown that people with Mosaic Down Syndrome (characterized by an extra 21st chromosome in some cells) have a higher IQ and more developed motor skills than people with typical Down Syndrome.

"Heather wanted to go to the next level," Smith said. "At age 24, she wanted to spread her wings a little.

"She can do everything for herself (household chores)," Smith said of her daughter, "but she's not mature enough to live on her own."

While some social-service agencies in Lebanon County provided help for certain aspects of Heather's condition, according to Smith, no one could provide the complete package she sought - a safe place for Heather to live and funding to help pay for it.

"I have found that, in advocating for my daughter, there are no resources available in this county (for someone in Heather's situation)," Smith said.

At the time, Heather insisted on moving out. She was placed in supervised facilities similar to a boarding house.

"I remember dropping her off at Mental Health/Mental Retardation," Smith said. "I cried. I felt like the worst mother in the world."

But Smith felt it was important to give Heather a chance to find independence. Many parents of a child with Down Syndrome or a mental disability keep the child at home until the parents get old and die, then the state steps in and decides where the child will live. Smith didn't want that to happen to her and Heather.

Sadly, the unthinkable happened after Heather moved into some of the facilities. She was abused.

Smith removed Heather from the situation, then got mad and decided to fight for her daughter's rights. And the rights of others in similar situations.

"She said to me, 'Mom, why does this stuff happen to me?' And I said, 'You know what, Heather? Why not? At least you have a voice,'" Smith recalled. "There's a lot of people who don't have anyone to speak out for them. But we had a voice, and we can speak out and do something about it."

Smith decided to go public with Heather's story. She spoke at a town-hall meeting and told her story to a local TV station. She also contacted local lawmakers to see if funding was available for Heather and people like her.

"You got to stand up above the crowd if you want to be heard," Smith said. "It's hard to do, but you got to do it. Everybody has a voice."

She put her story out there and pushed hard for help. And her efforts were rewarded.

State Sen. Mike Folmer and U.S. Rep. Tim Holden secured state and federal funding that enabled Heather to move into a quality facility in Berks County with one or two other housemates and 24/7 supervision. She also has a full-time job in Berks County. Smith talks to her daughter every day and visits often.

"I can't say enough good things about Congressman Holden and Senator Folmer," Smith said. "They listened to me, and they helped me to the best of their ability."

Her story has a happy ending, but Smith is not resting on her laurels. She hopes to start a support group - Divine Hope - and continue to advocate for people whose voice is not being heard.

"I didn't think I would do this because I fought my battle," she said. "But I felt it was my duty to do this. I want to help people because I know how to get through all the red tape and helping to make a difference in the lives of others."

She had 20 cells analyzed: 15 have Trisomy 21, while 5 have Tetrasomy 21.  So instead of the traditional mosaic with normal cells and trisomy cells, she has some with 47 and some with 48 chromosomes.  So if there is anyone else out there with the same type, please let us know. My husband and I are extremely lucky to have a healthy baby girl, she has had no health problems as of yet. We have the early intervention program here which comes in once a week to work on her gross and fine motor skills. She has some lower muscle tone. We are not crawling yet at 10 months, but we are on the very edge. She is always happy and smiling at everyone including strangers.

Dahlia is the love of our lives and we wouldn't change anything about her for the world.

So about a week later my husband and I went to have the test done, so a few minutes later I got real excited to find out that I was having another Boy, my only other son was 16 at the time so I got real happy to know he was getting a little brother; Well the tests were done and that they would call us back with the results. A week later they called us in for the news, So here we are listening to everything that that would change all the plans and dreams we all had. It was like packing to go on a trip to Hawaii and ending up in Alaska with nothing to wear. So I'll speed forward, David was born one month early on march 21 1999. He weigh 6/14 oz and 19 1/2 in long. He was such a pretty baby he was my only child born by a C-section needless to say I had my tubes tied. Well the Doctors thought he had Hirchmans disease, it has to do with the stomach intestines.  Well that was Negative and so was every other test they ran he finally got out of the childrens Hospital when he started gaining weight and eating on his own so finally after two weeks we went home.

Everyone was so excited to see little Davie. He had all kinds of therapist that would come to the house to teach him. David learned very quickly and soon started CDS at the age of three and through his school years the therapy is still continuing. He is in special Ed and learning life skills. Next year he'll be in sixth grade, he can read at a third grade level as well as math. David has surprised everyone that works with him. Davie is deeply Loved by all his siblings, he also has many friends in regular class room. David likes music and he can really Dance. He loves movie playing basketball and riding his bike. Davie and I spend lots of time together looking through stores, he has a big heart he never thinks of himself and he is very much a gentleman. I love david with all my heart and I wouldn't change a thing about him, to me he's perfect.. and when I think back about the day we learned that we were having a little boy with Mosaic Downs I thank God that we took that trip to Alaska....