My daughter might have down's syndrome

[rainbowbright]

I took my youngest daughter, Isabella, who is a twin to a developmental pediatrician yesterday because at 21 months she still isn't walking and she's been going to therapy since she was 9 1/2 months. After two hours of observation, the doctor said we need to get her chromosomes checked even though she doesn't show any of the outward features of Downs and we also need an MRI of her head when she turns two because something is going on in her brain that isn't allowing her to develop. The occupational therapist who was there said her muscles are very under-toned and her weak stomach muscles are what are preventing her from walking.
Isabella was diagnosed with IUGR a few months before she was born because her brother was taking all the nutrients and we were lucky enough to get her out before she became critical. I look at the fact that she may not be here with us and all I can say is that I am just very happy that she is and if we stop having any more snafu's with our insurance, we are prepared to keep her in therapy for the rest of her life if we have to

[Matrona]

Lord, have mercy! :crosseo:

[Kristos]

:crosseo:

[juliagreece]

Lord have mercy:crosseo: Pray to Saint David of Evia. He healed a child in a very similar situation!:crosseo:

[Epiphanius]

Lord have mercy, Lord have mercy, Lord have mercy.

[Philothei]

Lord have mercy. May St. Stylianos the protector of little children intecede for her.

[Protoevangel]

My niece has a daughter who has similar symptoms. Additionally, she wasn't physically developing. At one year, she still looked like an infant. At three years, she had only developed to the point of a one year old. She is also autistic. She is truly a blessing, and enriches everyones life with whom she meets.

I will keep you and your child in my prayers.

[Thekla]

our prayers !

[Kreikkalainen]

I took my youngest daughter, Isabella, who is a twin to a developmental pediatrician yesterday because at 21 months she still isn't walking and she's been going to therapy since she was 9 1/2 months. After two hours of observation, the doctor said we need to get her chromosomes checked even though she doesn't show any of the outward features of Downs and we also need an MRI of her head when she turns two because something is going on in her brain that isn't allowing her to develop. The occupational therapist who was there said her muscles are very under-toned and her weak stomach muscles are what are preventing her from walking.
Isabella was diagnosed with IUGR a few months before she was born because her brother was taking all the nutrients and we were lucky enough to get her out before she became critical. I look at the fact that she may not be here with us and all I can say is that I am just very happy that she is and if we stop having any more snafu's with our insurance, we are prepared to keep her in therapy for the rest of her life if we have to

You probably don't realise, but very few ladies nowadays would say the above when refering to a potentially seriously ill child.

Keep the same love for your children & be sure that God will give you the strength required to carry any Cross that awaits you & He will repay you & your husband hundred-folds when His time comes. If it is His Will that some day I have a family, I wish He gives me a wife like you.

My weak prayers are with you & your family. Lord Have Mercy & Thy Will be done.

[Lukaris]

Lord have mercy ob Your servants. "by stretching forth thine hand to heal; and that signs and wonders may be done by the name of thy holy child Jesus" (Acts 4:30) all according to thy will Lord. :crosseo:

[IMDSAPresident]

More than likely your daughter has mosaic Down syndrome. Mosaic Down syndrome is a rare form of Down syndrome where a percentage of cells have the extra 21st chromosome and the remaining cells are unaffected.

It is VERY important that your doctor analyzes more than the typical 2-3 cells after a 20 cell karyotype. We recommend that 100 cells be tested and AT LEAST 50 are analyzed. Without it, they may not see the 2 cell lines

If you would like more information on mosaic Down syndrome, you can visit our website imdsa .org and also, I invite you to read my blog on mosaic Down syndrome at mosaicmoments. today. com

Kristy Colvin
IMDSA President
International Mosaic Down Syndrome Association

[Dorothea]

I pray the MRI and other tests come back that she's healthy, rainbow. Lord, have mercy . :crosseo:

[rainbowbright]

Thank you everyone for your prayers. If she does get diagnosed with it, it of course won't change anything because she's still our sweet, temperamental, outgoing, witty little girl

More than likely your daughter has mosaic Down syndrome. Mosaic Down syndrome is a rare form of Down syndrome where a percentage of cells have the extra 21st chromosome and the remaining cells are unaffected.

It is VERY important that your doctor analyzes more than the typical 2-3 cells after a 20 cell karyotype. We recommend that 100 cells be tested and AT LEAST 50 are analyzed. Without it, they may not see the 2 cell lines

If you would like more information on mosaic Down syndrome, you can visit our website imdsa .org and also, I invite you to read my blog on mosaic Down syndrome at mosaicmoments. today. com

Kristy Colvin
IMDSA President
International Mosaic Down Syndrome Association



Thank you so much for this information. I was unaware that there were different types of downs.

[Anhelyna]

Prayers.

Perhaps when you KNOW what is wrong it will be easier to deal with it - the unknown is always worse than actuality.

She is still your darling beautiful loveable and loving daughter and nothing can take that way

[cassc]

RB, you and your family are in my Prayers.

[Ebor]

Thank you everyone for your prayers. If she does get diagnosed with it, it of course won't change anything because she's still our sweet, temperamental, outgoing, witty little girl

Thank you so much for this information. I was unaware that there were different types of downs.

Almost exactly 8 years ago we were in the same place you are with our youngest child, a boy who was not sitting up on his own at 16 months and who had only gained a pound or so since his 1 year check up. The AFP test had shown the results for *possible* Downs, but we did not have the next level of test because they have a small chance of causing miscarriage and we weren't going to "send him back" any way. At birth he showed none of the typical physical signs of DS nor did he have any health problems that sometimes accompany the condition such as heart or lung trouble or with his sight or hearing. The first year seemed normal. At 16 months our family doctor sent us to a specialist in Baltimore.

Our son had mild DS diagnosed from his blood test, but the doctor told us that he could have Mosaic Downs. The main affect was low muscle tone which can be countered by strengthening exercises. The doctor and his staff of nurses, interns and social worker helped us with information and counselling. They handled arrangments to get our son in the "Infants and Toddlers Program" which sent therapists to our house free of charge to help him (Physical, Speech, and Occupational). He was with them until his third birthday when he then started at a school started by the ARC. At 5 he started in a "School Community Based" Program at a public school where he is mainstreamed in PE, Art and other activities.

Two years ago we were able to stop the individual physical therapy; he didn't need it any more as he can walk, run, jump and climb. He still gets speech and occupational therapy. We also use Sign Language to help him communicate. He is learning to write and count and read. He's not stuck. He just needs some help to get over the delays.

If you would like to PM me, I'll be more then happy to listen and help in any way I can.

Ebor

[JustinHesychast]

Lord Jesus, have mercy, and give the strength needed for any future cross to bear.

[Michael the Iconographer]

You probably don't realise, but very few ladies nowadays would say the above when refering to a potentially seriously ill child.

I have to agree here! Your outlook is much more healthy than some parents who would be dreading having such a child in their lives, while you consider her a blessing!

[MariaRegina]

Almost exactly 8 years ago we were in the same place you are with our youngest child, a boy who was not sitting up on his own at 16 months and who had only gained a pound or so since his 1 year check up. The AFP test had shown the results for *possible* Downs, but we did not have the next level of test because they have a small chance of causing miscarriage and we weren't going to "send him back" any way. At birth he showed none of the typical physical signs of DS nor did he have any health problems that sometimes accompany the condition such as heart or lung trouble or with his sight or hearing. The first year seemed normal. At 16 months our family doctor sent us to a specialist in Baltimore.

Our son had mild DS diagnosed from his blood test, but the doctor told us that he could have Mosaic Downs. The main affect was low muscle tone which can be countered by strengthening exercises. The doctor and his staff of nurses, interns and social worker helped us with information and counselling. They handled arrangments to get our son in the "Infants and Toddlers Program" which sent therapists to our house free of charge to help him (Physical, Speech, and Occupational). He was with them until his third birthday when he then started at a school started by the ARC. At 5 he started in a "School Community Based" Program at a public school where he is mainstreamed in PE, Art and other activities.

Two years ago we were able to stop the individual physical therapy; he didn't need it any more as he can walk, run, jump and climb. He still gets speech and occupational therapy. We also use Sign Language to help him communicate. He is learning to write and count and read. He's not stuck. He just needs some help to get over the delays.

If you would like to PM me, I'll be more then happy to listen and help in any way I can.

Ebor

Thanks, Ebor. It is good to hear that therapy can help a child improve so much. :)

[MsDahl]

rainbow, you and your daughter are in my prayers. :crosseo:

Early intervention is extremely invaluable in helping babies/toddlers/preschoolers in overcoming whatever adversities they may face in life.

[Philothei]

There is always the good Lord you takes care of us.. Please do not despair. God is great and He will take care of your needs. Prayers again RAinbow...many of us were born with difficulities and physical limitations. Have faith that too will come to pass...

[Ebor]

Thanks, Ebor. It is good to hear that therapy can help a child improve so much. :)

Indeed it can. Our youngest can throw a ball farther and better then his brother and sister could at his age because it was part of his PT. He still has the low muscle tone, but the strength has countered it. All it means now is that he is still incredibly flexible; he can fall asleep with his head on his feet. :)

Historically, children with DS did not have a long life expectancy because of some of the affects such as heart problems or other conditions that weren't treated. One source I read (we did alot of research when our son was diagnosed) said that the average life span for a child with DS was about 9. Also, in past years, it wasn't standard to give the children various therapies so they might not learn how to read or speak or walk. Thank heaven things have changed in the last 30-40 years.

As the doctor explained to us, while the gene for DS aka Trisomy 21 (there are three of chromasome 21 when there should be 2) "pulls" one way, all of the other genes "pull" the other way. We're both from tall families while DS tends to make people shorter so it is likely that our boy will be of average height when he's an adult.

The teachers say that everything is going in, we just need to keep helping him get it back out which is why he still needs speech therapy (think of all of the small muscles that are involved in speaking and they need to be strengthened too) and OT to help the fine motor skills used for writing and typing. But he uses a mouse beautifully and can open and operate educational programs and websites, that he adores, that are teaching him phonics and letters and making words which helps both the speaking and the reading.

Our son is quite good at what his teachers and therapists call the "Problem Solving Skills" which at home can be come the "Help himself" or "Getting into Trouble" skills. If he'd only not left the box of ice cream on the counter we would not have known that he'd figured out the process for helping himself. It involved bringing something he could step up on to reach the freezer once he'd opened the door, taking out the right container, moving the step to the cupboard to get a bowl, opening the drawer to get a spoon, scooping out some ice cream and putting the step back. That he was able to figure out a series of actions to get what he wanted is a very good sign and worth some slightly melted ice cream. ;)

Ebor

[rainbowbright]

Our son is quite good at what his teachers and therapists call the "Problem Solving Skills" which at home can be come the "Help himself" or "Getting into Trouble" skills. If he'd only not left the box of ice cream on the counter we would not have known that he'd figured out the process for helping himself. It involved bringing something he could step up on to reach the freezer once he'd opened the door, taking out the right container, moving the step to the cupboard to get a bowl, opening the drawer to get a spoon, scooping out some ice cream and putting the step back. That he was able to figure out a series of actions to get what he wanted is a very good sign and worth some slightly melted ice cream. ;)

Ebor

Kids will be kids:D


My daughter did something so cool last night. She was laying on the bed with me and she pulled up my shirt, pointed at my stomach and said "baby". She also took a few steps on the bed. I was so excited.

[Theodoros of Atlanta]

Kids will be kids:D


My daughter did something so cool last night. She was laying on the bed with me and she pulled up my shirt, pointed at my stomach and said "baby". She also took a few steps on the bed. I was so excited.

Aww, that is cute! :)