I am mother of four children. The youngest is Arianne and she has MDS.  She was born on March 14,1998.  She was 3 weeks early. I was 38 when she was born.  A few hours after she was born, I saw for myself that she had DS.  The pediatrician came and told us that she thought Arianne had DS, but she wasn't sure because our baby had just a few signs of Down Syndrome.

They took her blood to be sure.  After 3 weeks the answer was that she had MDS.   She has 25% cells with the extra chromosome.  She was a very strong baby.   I breast-fed her until she was 10 months.  She did everything like sitting, crawling and walking, just like any other child.  She wasn't very quick but it all happened at a normal age.  She walked when she was 18 months.  She speaks very good.

She doesn't have any therapy, but we do have some help.  Once a month someone of 'home help' comes and she plays with Arianne and talks with us for 2 hours.  She monitors her development.  She gives us some good advice.

At the moment she is nearly 3 years old.  She goes to the same school as her sister since November.  She does it very well.  She had some tests but the center told us that there is no problem at this time.  She doesn't need any therapy.

Like any other girl, she likes to play with other children.  She likes to sing and dance, and she loves to swim.  She is a little sunshine with a very strong will.

I have lots of questions, because here in Belgium there isn't a lot of children like my daugther.  We don't know anyone.  After I read your stories, I knew I wasn't alone.  We take the days one at a time and hope she has a happy life.   Back to Personal Stories Page

Sandholdt
Denmark
Story submitted:  August 12, 2006

On the 28th of December 2005 I gave birth to a lovely little daughter. 3160 g. and 51 cm. 

Ahead of her birth we went to the hospital several times for blood test and scannings. Everything seemed to be normal.

After her birth the doctor told us that there was a small risk of Johanne having DS. They were instantly quite sure that the diagnose would be MDS. (of couse we didnt know anything about MDS....) (During my own childhood me and my family were foster family for 4 adult mentally handicaped - including one with DS.)  We have had 25 years together with these wonderful people and therefore, of course, we were chocked when the diagnosis was clear for Johannes DS but still I never doubted that she would get a wonderful life.

Two days later a AVSD heart failure was confirmed and we started being afraid of our daughter's life. When Johanne was 3 month old she went through surgery and were hospitalized for almost 1½ month. She is now in very good condition but the doctors have already told us that she have to have yet another surgery. However - by the time being - it looks as though she can live without having a new operation.

She is now 7 ½ month old and are constantly impressing all the doctors. She is - due to her heart failure and operation - supposed to be delayed reaching normal milestones but she isn't. She is a little ahead of development - probably because of our stimulation (karlstadmodel, signs too speech, and motoric stimulation)  Of course we wish for our daughter that she will be as good as possible - for her own sake - but no matter how she develops she will always be our beloved daughter - our little sunshine...

We are so lucky to have contact with 2 children and 1 adult with MDS. Fortunately they live nearby and have already visited us a couple of times. It means a lot to us to have contact with siblings - seeing how they develop and how their lives may appear. None of these have heart failure. It would be nice to get to know other mosaics with heart failure - we don't know if they will be a difference but it would surely be nice to meet them.

In Denmark there is not much material concerning MDS and no website, so it is with great pleasure that we got acquanted with your website.     Back to Personal Stories Page

In May of 1988, as I awaited the arrival of my new baby, my second child, I was 24 years old. My due date was July 10th, but needless to say, she came early. My daughter Samantha was a fighter inside me and still is to this day.  She was born 7 weeks early, 6lbs and 11oz 's, was diagnosed with mds when she was about 6 hours old. I, as well as my husband, were devastated. How did this happen? How would can we make her happy? And then the feeling of guilt, thinking I did something wrong to her.  It was terrible - I felt as though I let her down. But with strength and faith, it came to us.  She taught us so much and still does.

At 2 weeks old Samantha was having some problems with constipation and I took her to the doctor.  She gave her some medication and said, 'oh, if it still persists, come back."  I said, with a smile, okay, having one child already knowing that kids get sick now and then, but my concern was she was only 2-weeks old. Well, she went back to the doctor 3 times after that and then to the urgent care where the doctor told me to take her immediately to Children's Hospital - something is very wrong. As we rushed to the hospital with fear that just took over me, we stayed in the emergency room for 7 hours as doctors were running in our room trying to care for our daughter and asking us, her parents, to leave the room. We sat outside the room praying, praying for our daughter and her very new life.  The doctor came out of the room and told us that she had almost died and if we want her baptized we should call our priest to come to the hospital at that time, Samantha was diagnosed with Hersbrungs disease - waste had poisoned her system and she needed immediate surgery at 3-1/2 weeks old, had surgery and received a colostomy - what a shock that was. But her life was saved, learning to care for a colostomy and a bag was unbelievable, not mention that my son who was 3 years old at the time thought that the colostomy was the coolest thing he had seen and wanted one just like it.

At the time Samantha was in the hospital for her colostomy, we were told she also had a heart defect.  I thought I was going to die. Her heart was beating 3 times faster than it should have.  They gave us medication to give her and also told us that she could have a massive heart attack at any time. I had never been so scared in my entire life. What happened to this beautiful little baby?  And why did she have to suffer like this? At the age of 5-1/2 months she had open heart surgery which went very well.   She was in the hospital for 6 days, and came home on Thanksgiving morning. Now that's something to be thankful for, as it's a very special holiday for our family.

At the age of 1 year she had her colostomy taken care of and YEAH, no longer a colostomy or dealing with the bag. We were so happy and so was she.  It was terrible trying to keep her from playing with that bag when changing her clothes, like any other child her age would do. The surgery was successful but long and lots of incisions.

This little girl was such a trooper throughout the first year of her life going through 3 major surgeries, getting sick with ear infections,  etc... She still was a fighter, crawling around at the age of 5 months and so determined to be mobile you could see it in her eyes. After that first year and then working through the second and of course needing to take a breather from the first year, Sam was healing and showing us that nothing was going to slow her down and nothing did. She kept pushing herself and before you know she was walking, running and getting herself into trouble all the time.

She has made tremendous accomplishments throughout her life which non we take for granted, blowing out a candle, potty training (we had a huge party for her when we accomplished that...whewww), putting shoes on the right feet, making herself something to eat, reading, math, science, my list goes on and on.

Through the years we have learned so much about life, how to appreciate it, respect it, and treasure it. I have a son who is 14 and is the best big brother, caring and sensitive to his sister's needs, as well as the people around him.  Don't think that they don't fight every now and again because they do. He watches her and is just as happy and amazed when she is successful in one of her tasks.  He (we) laugh at her when she tries to be funny, which is all the time, or shakes his head at her when she is so very out-spoken. But they have a very special bond, we all do. My daughter is now 11 years old, in 5th grade.  She has the social skills of a child her own age, the academic skill though are a little lower. She is mainstreamed in school, has some special ed classes as well as regular education classes. There are still some speech problems that we deal with.   She receives speech therapy in school as well as extra speech at the Children's' hospital in our city. She knows everyone at her school, and is extremely social to a point that it gets her in trouble (she talks way to much, her dad says she gets that from me). She loves Ricky Martin, Britney Spears and God I can't forget the Back Street Boys. Her goals are to get her own car (yikes) purple, her favorite color, to have a great job and to live in her own home someday.

She tries very hard to be like everybody else and I tell her don't try so hard to be like other people, be yourself. Because she is truly a wonderful person, a blessing for our family, she has taught us what unconditional love really is.  

Hi! My name is Susan and I am 31 years of age. I took the triple test at 16 weeks. I didn't expect to hear that there were any problems, in fact, I had forgotten I had taken the test till I got the call. This was followed by an Amnio at 20 weeks. I was given the quick results as 100% DS and then the definite results 2 weeks later with the same results. All the while I was praying that Nate would be Mosaic, at least. Anything to increase his chances of having a more "normal" life but it was to no avail. Yes, we considered all three options: abort, adoption and keeping him. We are Air Force and knew that wouldn't be the kind of supportive lifestyle he would need and we were concerned how it would affect his older brother, Chad at 6 1/2 years. Adoption was quickly forgotten. With the help and support of my civilian doctor and a whole lot of prayer we chose to keep little Nate. God chose us for this special little boy and therefore there was a definite purpose.

Nate was born Monday, 31 July 2000. His only immediate problem was his red blood cell could was over 75 and he wasn't getting adequate oxygen to his outer limbs. He was hooked up to oxygen and all kinds of monitors. He looked, to me, like he could have ran the local telephone switchboard through him. 2 ounces of his blood was taken and saline replaced that to thin it out. He was able to come home that Friday.

Since then the cardiologist discovered 2 openings in his heart that are expected to close by themselves before he is one (to be checked at 9 months again). It was determined that he was 12% normal but they thought it should be higher because of his lack of DS features so they retested his blood and came up with 7% (to be checked at 1yr again). He supposedly has a slight loss of hearing (to be checked at 9 months again) but we can't detect it from his reactions to sounds and speaking to him.

He is enrolled in Early Intervention. He is evaluated by Occupational, Developmental and Speech therapist. All say he seems on track, if not ahead.

Nate's big brother, Chad, is real proud of him and didn't understand all the fuss about the DS. He knows a few fellow kids at school and daycare that have DS. As long as he was a boy, he was happy.

I separated from the AF and went Reserve to stay in the local area with my family and all the great DS facilities and support groups. Unfortunately, Scott, my husband, has orders for Turkey. He leaves in May 2001 for 1 month. I get to go through all the possible problems and tests without him. It will be rough and I worry how Nate will take to him when he is able to come home.

Throughout my pregnancy, everyone expressed sympathy about Nate having DS and I took that time to explain DS because the general population doesn't know that much about it and what they do know isn't always right. As Daddy always told me, "Life gives ya lemons, make lemon-aide." and so I am as best as I can be.        

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It took my husband and I four years to fall pregnant and countless fertility drugs. Once we decided that we were not going to be able to have a child and went off all the drugs, a month later I fell pregnant.

Well we were totally ecstatic. We decided not to have all the blood tests as we thought that the child that I was carrying was so wanted and needed that there would be nothing wrong with it.

Boy were we wrong. As soon as she was born we knew that something was wrong. I didn't even get to hold her. She wasn't breathing; therefore she was purple and there were four doctors and five nurses around Casey whilst she was in the humid crib. She was quickly rushed to neonatal intensive care, and we were then left alone with the midwife.

My husband (Chris) new straight away that there was something wrong but he didn't let on as I was still groggy from the epidural. About an hour later we were informed that Casey had DS and that she needed heart surgery in Melbourne by the time she was 12 weeks old.

It wasn't till we were in Melbourne that we were informed that Casey had a rare type of Down Syndrome called Mosaicism.  Of course Chris and I had no idea what Mosaic Down Syndrome was. We were informed that she had 95% normal cells and 5% downs cells.

Well Casey is now 2.5 years old and a total handful. She is the most beautiful child that I have ever seen (I'm a bit biased) she does everything that a "normal" child does at her age except she doesn't say full sentences and if she cant say a word she points at what she wants.

So every new mother or expectant mother that has been informed that their child might or has down syndrome take heart these kids are the most special gift that God can give you and they will light up your life to no end. Casey is my hero because everything that she has had to endure she has done it with a smile.

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I am really not sure what to say. I have very recently found out my daughter has MDS, and I don't know what that really means for her.  So all I can really do is tell you how I feel.

When Kaitee was born they thought she had the features of a child with down syndrome, so the blood test was done.  It came back negative.  I think then that I knew the test was wrong, but I didn't want my daughter to have some syndrome that would destroy her life, so I didn't' listen to my heart then.

Kaitee developed slower then her peers.  She was behind in most motor skills and didn't start talking on level.  Well, the pediatrician was patient with me to say the least, and at fifteen months we went to the infant toddler program, for her lack of speech. She wasn't talking at all yet and they told me we should test her hearing. They also asked about down syndrome and I told them the test had been negative, which was acceptable to them. We had also had a cat scan done to find out why her head had suddenly grown to the 98 percentile of the growth chart.

Well the hearing testing started.  First it was a sensory loss of hearing, then there was fluid, then it was "has she been tested for a syndrome???"

New audiologist, first it is sensory, then the fluid was present, two abr's...... ummmmmm has she been genetically tested??

The school decides to do some evaluating and testing, results.... Kaitee doesn't really fit in any one place, she has a variety of symptoms which all fall under different dx's.... and this was the day I decided that I needed to continue genetic testing.  I could not imagine growing up and not fitting in.

The one thing I was sure of at this time is how much Kaitee has grown to mean to all of us. Kaitee is a very loving child, but totally frustrated, and trust me, very frustrating!!!!   She has shown me how to appreciate life a whole lot more.. to be grateful for the little things that most feel are unimportant. Kaitee is a very outgoing child, and usually accomplishes what she sets out to do, maybe it takes more tries and more failures, but she usually throws her hands in the air and says "I did it, I did it" ..... this is new ... Kaitee who rarely spoke a word in the last five months started speaking in short sentences...many are words put together not pertaining to the subject, but each is music to my ears.

Well, we went to the Kennedy Krieger Institution, and there we got an answer to where Kaitee "fit in."  Didn't take long, one skin test, lots of explaining and there you have it.... Kaitee has MDS.  So what does this mean for Kaitee??  Not much in my view.   Kaitee is still the little girl that I have grown to love very, very much. Kaitee has the same future that she had before the dx.  I don't feel that the future is unknown only for Kaitee, does anyone really know what the future will bring them??

In a lot of ways we have been darn lucky.  Kaitee doesn't seem to have any heart troubles, and is a very, very happy little girl who people fall in love with easily.

We don't know about her hearing yet, these tests will continue.

Behavior problems exist, and sleep problems.  Her speech skills are just emerging and taking off, she is way behind in most cognitive skills but day by day we work on these.

Kaitee attends a preschool five days per week. She loves to ride the bus.

As far as the MDS, I think when the Dr. called and told me the results of the tests, I went thru a short period of "mourning."  I felt the same things that any parent feels when their child is given a label. I don't know what the future will bring for Kaitee.  I don't know what the future will bring for any of my other children.   I do know I will be there every step of the way offering my guidance, love and support. Oh yeah and to holler and roll my eyes and cry and laugh ........ to stomp my feet in frustration, to applaud the victories...... I know I will be there.

My daughter was diagnosed with MDS last October, 3 days after her 4th birthday.  My daughter has slightly noticeable developmental delays, i.e. speech, toilet training, social skills.  Her eyesight is still to be checked.  She shows absolutely no outward signs of being an MDS child.  As I have only just embarked on my discovery tour of her world as it stands now, I am finding it very hard to find much info...even to speak to people who understand where 'I' am coming from.  Any parent with children with full downs doesn't really wish to speak to me, and I can understand that.  My daughter is lucky to be as slightly affected as she seems.  Even my specialists over here in Australia are quite fascinated by my daughter, which I see as a good thing.  It just is all still very confusing for myself and the affect it has on my family.  I'm sorry my daughter has a developmental disability called MDS, and they look at you as though you are making it up.  My daughter is a very happy, healthy and intelligent child.  I suppose that is all I have to say at the moment and would love to hear from other people.  Natalie                    Back to Personal Stories Page

Hello, I am a mother of two very beautiful daughters: one is six, and the other is 15 mos. old. My youngest was diagnosed with MDS shortly after she was born. There was so much going on at the time that I really didn't have time to digest all that the Genetic Counselor was telling me, because Brooke, my daughter was born with heart disorders, and was scheduled for surgery as soon as she was big enough to undergo it. My little girl had (5) five holes in her tiny little heart that she had to have repaired, so that was my least concern to know exactly what MDS was!  At 2 mos. of age, Brooke had taken a turn for the worse, and had to have the surgery, even though she was so little. It was one of the worst times I think that my family will ever go through!  She made it through the surgery just fine, and hasn't had any more problems with her heart since. I do thank God everyday for that!

Brooke has had other problems though, like very poor muscle tone in her upper body that she needs therapy for. Her speech is delayed, in which she has a speech therapist for. She also has had problems with weight gain. I know that usually in children with down syndrome, it is usually the total opposite, and they have trouble with being over-weight, but not in her case!  Since she has been born, I have fought with her weight. She has a home health nurse that comes into my home twice a week to weigh her, and most of the time we are counting ounces!  When Brooke gets sick (which she has a lot of upper respiratory infections, URI's), she loses weight, not a lot, but 3 or 4 ounces.  And that to us is a major set back!  So I am wondering if anyone out there has the same situation?  

Brooke has also had to have an NG tube down her nose since she had open heart surgery to try and get the extra calories into her for the weight gain. We just got the tube out about a week ago, because she is now taking the extra calories in her foods. Although we are still struggling with her weight, we are very glad that she is now taking everything in on her own, without the NG tube...this was a major accomplishment! 

One last thing that my daughter has is Tracheal Malacia (narrowing of the windpipe).   She has never had any real problems with this, only she has had very noisy breathing since she has been born, in which she is now starting to grow out of, and only has it when she has a cold. I am very grateful that all of these conditions are not serious, and that she is able to get help with them. Brooke is a very bright and happy little girl that has been through very much, but she is eager to keep fighting, and hopefully someday she won't have to fight so hard.

Eighteen hours after birth, the obstetrician told us that she suspected that our daughter possibly has down syndrome. After 1 week, the hospital called to tell that there was no D.S. found, only a translocation of chromosome 14-21. We were very happy about this news, but 10 days after this news, they called again to tell us that they, by further research, did found cells with D.S. 28 of the 100 cells they investigate has 3 times chromosome 21, that makes about 25 %.  She has almost no marks of D.S.  People can't tell that she has D.S. when they see her.  Shayenne is now almost 13 months old and she is doing very well.  Her development is normal, she is very busy with trying to walk by herself and today she did 6 steps!!!!!!!!!  We do not now what the future in her development will bring, that's our big surprise. What we do know is that she is a very great little girl, who makes our days very happy!!!!!!!!!!!              Back to Personal Stories Page

I am not the mother, but the aunt of two beautiful Down Syndrome children.

My sister Meghan and I were pregnant at the same time five years ago. I gave birth to a beautiful baby girl three weeks prior to her emergency c-section. I was the coach because Meghan was a single mother . When Toby was born, he had multiple problems. Toby had an occluded airway compliments of the muconium plug, which he had already passed.  He was slowly recovering from the lack of oxygen and loss of body heat when the nurse in the nursery let one of his little feet become unwrapped. My first thought was "What ugly feet! Must be his father's."

I patiently waited to be allowed to enter the nursery, when the charge nurse came out to tell me the news. The doctor suspected that Toby had Down Syndrome and that once they had him somewhat stable they would be transferring him to Boston Children's Hospital. I admit I cried at first. I was always the strong one. I had to compose myself, call home to check on my newborn, and go see how Meghan was recovering from the news given.

Meghan soon became the strength for me and our family. She said, "I couldn't ask for a more beautiful little boy, he has 10 fingers and 10 toes, just as I had prayed he would."

Toby was soon transferred to Boston where he was found to be 65% affected. He had to spend several weeks in the hospital to regulate his inability to suck and maintain body heat. He was found to have a "hole" in his heart which may have needed surgery later. He came home at six weeks to his anxious family where he has been nurtured and loved to this day.

Meghan was to be heavily involved with Early Intervention from that point on. They are wonderful and supportive. To go to just one of their many functions just makes you happy to be alive.

Jeremy, an old boyfriend, came back into Meghan's and now into Toby's life a little more than one year ago. He was the father that Toby never really knew. He gave him gentle guidance and strong moral support and is now in the process of adopting Toby.

Meghan and Jeremy soon found out they were pregnant and both were elated with the news. The pregnancy went along uneventful. Meghan was offered testing but she declined for she had been told she had less than one percent chance of having another Down Syndrome child. It would not have mattered anyway.  Well, "Pretty Pretty Princess", Margret Louise, known to us as Maggie Lou, was born just seven weeks ago.  Unlike her brother Toby she had no respiratory, cardiac or temperature regulating difficulties.  My sister lie holding her husband and I the auntie stood at bedside as proud as a peacock! I was so proud of how well Meghan did and how beautiful Maggie Lou was. Then my sister looked at me, smiled and said "she has Toby's feet."  Only I knew what that meant. As my brain feverishly attempted to register what my sister had just said, the doctor came into the room with tears in her eyes. She said to Meghan, "you know what I have to tell you?"  Meghan nodded and replied, "I knew from the moment I saw her, she was going to be just as special".  She cried only a little, I think more so for her husband.  I think she feared he would run just as Toby's dad did.   But Jeremy is different. I truly feel he was sent from God to make all things right.

Maggie was allowed to leave the hospital on day three of birth with a visiting nurse to come monitor her bilirubin light and levels.  We went to Boston as suggested by her pediatrician. Maggie was tested and found to be 100% affected though shows no other than some facial features and  of course, her feet, of having Down Syndrome.  She is breastfed solely and is doing remarkably well.  She shows no deficits in hearing or vision and neurologically she is responding accordingly.  She is loved deeply by all but particularly by Toby who has even attempted to feed "baby" by lifting his shirt in an attempt to feed her saying "K baby K."  It is a sight to behold!

I hope to hear from others about their trails and strengthening stories.  In a way our children will grow up together!        Back to Personal Stories Page