My name is Maryann Nekoloff and my daughter Christine has MDS. Our story began 18 weeks into my pregnancy with Christine. The doctor called and in a very somber voice told me that my AFP blood test was low and that I needed an ultrasound and to see a genetic counselor immediately. I had to ask what a low AFP meant, and she told me it could be down syndrome or some other chromosomal abnormality. This all took me by surprise since I was only 33 years old, and with no family history of down syndrome, there was no reason to believe this could happen. The ultrasound technician told me the baby look perfect and that she was a girl. Christine became real to me and right there and then I made a promise to her that I would love and protect her no matter what.

The visit with the geneticist was rather grim. He told me when he factored the results of the AFP with my age the odds were 1 in 21 that my baby had down syndrome. He also asked me how easy it was for me to get pregnant "since these odds were only for this pregnancy and you really wouldn't want down syndrome". We decided to have the amnio and in my heart I knew what the results would be.

After two agonizing weeks the phone call came and we were told the results were somewhat abnormal and once again we were back in the genetic counselor's office. Luckily, this time it was a different doctor. Christine's amnio showed 48% of her cells had the extra chromosome. The genetic counselor, though she explained what down syndrome involves was very positive and tried to instill hope in us that because Christine was mosaic she would be higher functioning. There is no greater devastation than being told there is something wrong with your unborn baby and being asked what would you like to do about this pregnancy?

I had promised my unborn child that I would love her and take care of her and then I experienced a gripping terror. How was I going to do this? Would she be happy? Would I ever be happy again and was I going to cry every time I saw her? Did I make the right decision or maybe another option would be better.

While I was wrestling with these questions, my husband and I went to visit a school for children with down syndrome. I didn't want to get out of the car because I couldn't imagine what we were going to see. What we saw were children playing, laughing and learning. One little boy came and took my hand and looked right into my eyes and I knew I had made the right decision.

The birth itself was very painless. We arrived at the hospital at 8.00pm and Amy was born at 10.05pm. The euphoria when we realised we had had a little girl was just overwhelming. Neither of us could believe it and I was so delighted for my wife who was desperate for a little girl.  Everything was fine and as Amy cuddled into Mum we were left alone by the midwives. We were on top of the world and were talking about how amazed everyone would be. Beccy could not wait to tell family and friends. However after about 15 minutes alone the midwife came back in and she almost immediately mentioned that she had some concerns about Amy and that she had asked the pediatrician to take a look at Amy. When we asked what the problem was she said that she was showing some of the classic signs for a Down Syndrome child. Although her facial features were mild, her tongue was slightly protruding and the midwife had noticed the crease on her foot, the spacing of her big toe, and she had 3 soft spots on her head.  The world seemed to freeze there for a good 5 minutes. I did not make eye contact with the midwife, nobody said anything, we just wanted the world to rewind 5 minutes to when we were chatting about our beautiful girl. The pediatrician came in and confirmed that she shared the same concerns as the midwife but that they would need to run tests.

We did not know what to say to each other as we were both in shock. We had stopped cooing over our new baby as it seemed she had been snatched away from us and replaced with a new baby. Our families would all be waiting excitedly by the phone to here news but now what would we tell them, how could we tell them.  Why, why, why, was all we seemed to say, and my wife was asking what she had done. What could I say, it broke my heart to see the pain in her face. I eventually called my mother and broke down the second she came on the phone, and she passed word to the rest of the family before coming down to the hospital.  I stayed at the hospital with my wife for the next 4 days and nights, I think the longest and most agonising of our lives. She had blood tests, heart scans etc. The midwifes were fantastic but we got fed up hearing that 'they' were lovely and affectionate children.

We saw experts who explained about Down Syndrome and at this stage they mentioned Mosaic and translocation but said to ignore these as it was highly unlikely she had either of them as they were very rare. Anyway I returned to the hospital a few days after going home to be told that it was Mosaic Down Syndrome and that they were amazed.  This did lift our spirits, although we were still struggling to come to terms with the diagnosis. Our families were very supportive but it was very difficult to be positive when we were still very unsure of what the future held.  We slowly got in the routine of taking Amy from specialist appointment to specialist appointment, and Amy's health was generally very good. At around 8 months old Amy was diagnosed with a small ASD by the heart specialist, however this did not require any corrective surgery, and at her last check up they were fairly sure that the hole had closed. She has a further check up planned for Jan 2008 which will hopefully confirm this.

As everyone who has been through the same experience will appreciate there were still bad days as we gradually repaired our broken hearts. I think we have coped very well with things and to be honest after the initial year when our families were constantly offering support, we have been left to get on with things.  We soon found the IMDSA website and it really was invaluable. We knew very little about Down Syndrome and even less about Mosaic Down Syndrome, and therefore the stories, and medical information have given us not just knowledge, but also great hope for the future as we read about the development of other children.  My wife has been fantastic and her contribution to Amy's development has been amazing, she never stops doing things with her to help her development and Amy loves to learn. She also had a weekly portage visitor who was fantastic and became very close to Amy. She has now started her first year at school and is making friends, and developing really well. She does have some speech delay but this just seems to be coming on leaps and bounds at the moment.  She is absolutely adorable and affects everyone that she comes into contact with. Her brothers have also helped her, and love her to bits. She has a wicked sense of humor and never fails to put a smile on your face. She loves dancing and singing and goes to ballet class each week.

Although we both still have concerns about the future, we have learnt to take things as they come, and not start thinking about too far down the line. We are confident she will continue to flourish and have been helped tremendously by all the heartwarming stories that we have read on this website. I hope to post a picture of Amy on the site soon so that you can see our cheeky girl for yourselves.          Back to Personal Stories Page

Our daughter Kaylee was born on December 19, 2005. She is the youngest of our 4 children, younger than the others by more than a decade. We have a 14 year old son and twin daughters who are 12.

I found out that I was pregnant in the spring of 2005 and I honestly don't think that David and I could have possibly been more shocked by the news. We had just returned from our first trip alone since the birth of our son 12 years earlier and we were thrilled to have the new found freedom that belongs to parents of children old enough to leave with grandparents for a few days. My kids were excited to find out that we were going to have a baby in the house and their enthusiasm was infectious. I realized on the day that we told them that everything was going to be just fine and that we all had room in our hearts for the beautiful new baby that would soon be joining us.

My pregnancy was uneventful, I knew that at 39 I was considered an "older" mother but I was strong and healthy and there were no medical problems in either my nor my husband's family. Our insurance company refused to pay for an amnio so we opted out knowing that any information it may have provided could never change our decision to have our baby. My doctor said not to worry, the AFP came back a little funny but factoring in my age probably influenced those results and a level 2 sonogram at a geneticists office did not reveal any problems at all. "You worry too much, she's fine". His words echoed in my ears as Kaylee was delivered by emergency cesarian section on the morning of December 19. The pediatrician on call spent only a minute with her before calling my husband into the hall to speak to him privately. I could see them talking through a window in the door as my ob/gyn finished stitching me back together. I knew immediately what was going on...

I didn't know it at the time but that day was the first day of the happiest time our family has ever experienced. Our hearts overflow with love for this beautiful little girl. All of our fears and sorrow melted away with each moment that we spent with her in the first few weeks after her birth. As a family we faced her heart surgery together and as Kaylee's heart grew stronger we realized that our family bonds were growing stronger too. I wish that I had known all of this on the day that she was born. I wish that I could have looked ahead and known that everything was going to be okay, that our family would remain unchanged with the exception of all of the additional love that she has given us.     Back to Personal Stories Page

My name is Robin and my daughter Bailee (who is now 3) was born with MDS. Unlike several of the stories I have read, she was diagnosed within the first few days of life with MDS and we were fairly certain immediately that she had DS. The reason I am sharing my story is because there truly are silver linings to every story and Bailee is mine. I had already been blessed with a healthy son (now 19 years) and for 10 years we tried desperately for a little girl. I always pictured a matched set. After so many years of trying my husband and I decided to call it quits. It was on our anniversary the same week that we had this discussion that I discovered I was pregnant. My pregnancy was textbook so there were no warning signs. At the time of delivery she had stopped breathing. They noticed her slight features and the crooked pinky and webbed toes and feared DS. At the time they thought she had heart problems but later found out it was pneumonia. When they placed her at my breast the only thing I knew was that no matter what took place - I could handle it. She was the most beautiful sight to behold and I have never felt the sense of peace that I felt with her in my arms. I didn't cry, nor did I ask why me. I thanked God for my precious baby and my husband merely asked for the strength to accept her - not to take the diagnosis away. From that day forward, my daughter has been a guiding force in all of our lives. She attracts the most wonderful people ( such as yourselves) that we may otherwise never have known. With MDS and DS - there are no certainties as to what our children will achieve. But I am certain of one thing, there is no way that I will ever be able to give to my child what she has already given me. For new parents out there that fear the worst - You are in for a journey that is not always easy but I guarantee you will not be sorry.                 Back to Personal Stories Page

Ryan was born on Feb. 26,1997, one month early. I (Larry) found out the next morning when I went to the hospital. The nurse stopped me on the way to the neonatal care unit, and told me about their suspicions and that they had called a genetics doctor in. I had to tell my wife about their suspicions, and that a genetics doctor was coming in to talk to us later that day. The geneticist came in, told us why they suspected DS and that they took a blood sample to test and confirm the diagnosis.

After two weeks we had another visit with the geneticist and that's when they told us that Ryan had MDS. Being that this was our first child, we didn't know what to expect. Was he doing things at the right time?  Was he growing correctly? Was he doing that right? These questions and more we were trying to answer. Ryan had an ASD repaired when he was 10 months old  He came through with flying colors. He had tear duct surgery at 2-1/2 years old, which his parents aren't sure was a 100% effective. Right now he is a healthy 4-year-old. He climbs on everything. Runs around like any other 4 year old, and gets into trouble like any other toddler. We would not have him any other way.  He has brought much joy and happiness into our lives, like any other child would.

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We are very proud of our daughter Kerryn, who is turning 21 in July.

What a lot of hard work!  But what a lot of laughs and rewards we have had along the way!  When she was born, the midwife turned her hands over to find the tell-tale crease in her palms.  My husband saw this happen, but did not realize the significance. We went through the entire range of emotions of course, then picked ourselves up off the floor and talked about her future.  She was born in Tasmania, so we decided to move back to Melbourne and get her early intervention to give her the best possible chance at life.  She has an older brother, so it was just presumed that Kerryn would follow him into mainstream education.  She was developmentally delayed in walking and talking etc., but she talks non-stop now to make up for that. She attended Secondary College, and is now at a TAFE College to help prepare her for the workforce.  She has enjoyed 10 years jazz ballet, and now enjoys gymnastics instead.  She does swimming, discos every 2 weeks, outings at the weekends for respite for us and regular camping trips.  She has just completed work experience at an elderly persons hostel in the activities centre, and thoroughly enjoyed herself.  I would love see her get a part-time job similar to that, but we don't know yet.  She is the greatest at imitating I have ever seen, and has us laughing such a lot.  She is socially accepted everywhere and enjoys herself in any situation.  We have exposed her to all types of music and theatre from c & w. to opera, and remembers them all.  We don't get any guarantees with any of our kids, and just remember we haven't had any practice at this before.  If anyone had asked you if you could cope with a child who just happened to be born with a disability, the natural answer would be NO - but just think what you have all achieved.

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Poole
Dana Point, CA
faeriefrau@sbcglobal.net
Story submitted: May 22, 2006

We received Emilie's diagnosis after 17 long, frustrating months. I have to say that we were more relieved than upset when we received the diagnosis because it answered our "why" questions.

I had an interesting pregnancy with Emilie - different from my pregnancy with my first daughter. It wasn't bad, but it felt odd. I developed an irritating and painful rash in the 2nd month that went undiagnosed. I believe that my body was trying to tell me something. My AFP came back normal, and I did not have an amniocetesis. When Emilie was born one week early, the OB did not mention anything out of the ordinary to me. We did not see a pediatrician when we left the hospital.

Emilie had jaundice when she was born, and I took her to the doctor regularly to have the jaundice checked. I took her to all of her regular infant appointments.  Even though "things" seemed off to us, the doctors always said that Emilie was fine.  It wasn't until I saw a therapist because Emilie was delayed in speech and gross and fine motor skills that we suspected that there may be more to the story. At the suggestion of the therapist, I took Emilie to a geneticist where, after evaluation and tests, it was revealed that Emilie had Mosaic Down Syndrome. She immediately received more therapy and more options and resources were opened to us.  We love our Emilie. We consider her a gift and do not take her for granted.     Back to Personal Stories Page

Reynolds
Kenosha WI
My2angels06@yahoo.com
Story submitted:  March 2, 2007

Louise was born in Pensacola Fl on October 26 1990. I had a normal pregnancy but something told me something wasn't right from about 6 months on. My Husband and I even discussed DS after our 7 months blood check which came back normal.  I was in hard labor for 45 minutes. She popped out, screamed and I held up my arms to hold my baby, empty arms. Much to my dismay I protested and wanted to know what was going on. They had to take her to the ICU and put her under a oxygen tent as she was having a hard time breathing.

What seemed hours later, the doc came and told us that she was having some problems but I could go and see her, but not hold her. My heart yearned to hold my baby and I cried in agony as I saw this little being totally helplessly fighting for every breath and wandered what the future was going to hold. All I remember at that moment was that I wanted the comfort of my mother's arms who, at the time, was in Bermuda waiting for the news of the birth.

Several hours later Louise was medavacked to Kessler Air Force Base where she was interbated and put in the ICU. She was there for 5 days. The first time I got to hold her was absolutely amazing. I felt as if I had been given a million dollars.  After 5 days, we got to go home. The grandparents arrived and visited for a while. We then moved to a new house. Louise was having a lot of feeding issues and was taking forever to eat 2oz due to poor suck. She was getting sicker and sicker, skinnier and skinnier. On Dec 31 (day b4 operation desert storm started and all the docs and specialists were called to duty,) we were again medavacked to Kessler. This time due to RSV. They told me had I been another 15 minutes, she probably wouldn't have made it.

During the next 4 months (3 of which she spent in ICU) she had her appendix removed, a meckles on her bowel removed and a g tube placed. After the gtube she wouldn't take anything at all by mouth (she had also had a Nissen Fundleplication due to significant reflux.).  We spent the next three years trying to teach her to eat. She was in intervention, which I believe, is why she is where she is today. She was medically involved for the next three years. Behaviorally, was a handful. Like having three year old triplets (single mum by this time).

On entering school she was put in a contained classroom and did very well. She is still in a contained classroom and teachers "sing her praises" on how smart she is etc, etc. I hold high hopes for Louise.  When she is older, and doesn't need me so much, for her benefit, I am seeking alternative arrangements for her such as a group home. This may sound cruel to some however unless my home situation changes dramatically, (sis and Lou don't get along) I believe this would be best for Louise and her needs. I have spoken with her caseworker and she is in agreement.

Louise is a very happy social 16 year old. She has no medical issues per say and is learning every day how to live in the "real world" She loves people and loves to please. She has one special friend (female) who is "physically challenged". I am hoping she will develop further friendships and be able to live with minimal support.

This is my story. I am very happy to share it with you all.  May God bless you in all your endeavors to advocate and be parents to your children.  Emma A. Reynolds     Back to Personal Stories Page

Roskam
Cache, OK
keldaroskam@hotmail.com
Story submitted: December 31, 2006

I knew from the moment I first nursed my Katie that she was different. At her two week checkup I told her pediatrician of my suspicions....and the next checkup and the next checkup and the...well, you get the idea. He did not agree with me. He didn't even support a blood test! As it turned out, only my mother believed in my suspicions....needless to say, a divorce, alopecia and 100 pounds lost, I finally pushed and fought the right geneticist!! Yeah!! Katie is Downs!! Wait...shouldn't this be bad news??? I was ecstatic that our two year fight was over...but it had only just begun. These past three years since Katie's diagnosis has been filled with high hopes and few disappointments. She is awesome!       Back to Personal Stories Page

Ryan
Cape Cod, MA
jessicajem1977@aol.com
Story submitted: April 3, 2006

After my 18th week ultrasound for my fourth child, I received a phone call from my OB on a Monday afternoon. I immediately knew something was wrong. It is funny because earlier in the day I remembered feeling relief that I didn't get a call. Part of me knew something was wrong. The OB said she saw a hole between the atrium of my daughter's heart. She wanted to send me to Boston to get a level 2 ultrasound. We went for the level 2 ultrasound and they thought they saw a heart defect called Tetralogy of fallot. They suggested an amnio because a large percentage of babies with this heart defect have DS or another genetic problem. I did not initially want to do it. I was 27 years old and had 3 healthy kids. We do not have a family history of genetic problems. And if there was a problem (besides the heart defect), I don't think I could of ended the pregnancy. I already loved this child...so why do it?

My husband felt strongly that we should do the amnio if not for any other reason than to just get as much information as we could to be prepared. I hesitantly agreed (afraid of the miscarriage risk) and we had it done. The u/s place sent us to Children's Hospital to have a fetal echo done on her heart that afternoon. They agreed with the suspicion of Tetralogy of Fallot. My OB transferred me to a high risk OB at B+W Hospital in Boston. I had frequent non-stress tests to check on her well being. I received a call from my OB that my amnio was normal.

My husband and I felt relief but we were more worried about her heart defect. My OB planned to induce me so we would make sure to arrive at B+W Hospital on time. My last labor was less than an hour with my third child and we live 2 hours away from B+W'S Hospital. On August 29th (at 38 weeks 6 days), they admitted me to the hospital but they did not start the induction until about 3am on August 30th so the whole team of people would be ready for her when she arrived. They started the pitocin realllllly slow because of my history of my last fast labor so I would make it until morning. Evelyn was born at 6:22 PM on August 30th weighing in at 6lbs 5 oz. 18"long. I couldn't believe my eyes. I have never had a baby so small. I didn't even have to push her out. She came out all on her own. They let me spend a little time with her before they whisked her off to the NICU. I really only got to see her face well and she looked good to me. I was relieved. I was picturing a really sick looking baby who was BLUE. She looked pretty pink when she was born.

A few hours later they brought me to the NICU triage room where they had Evelyn. They said she was a pink Tet and looked really good. They had her on a monitor and her oxygen saturations were mainly in the 80's but into the 90's. They said if it wasn't for her oxygen levels she could of went to the regular nursery. They said she would probably only have to stay overnight in the NICU. While in the NICU overnight and the next day her oxygen levels would drop into the 70's and at times in the 60's. They did not put her on Oxygen because this was expected with Tetralogy of Fallot. Her color was getting worse. She was cyanotic around her lips and eyes. The soles of her feet were dark purple. The next day she had an echo which showed she DID NOT have Tetralogy of fallot but only a large ASD. A much better diagnosis but this diagnosis did not explain her very low oxygen levels. They were puzzled and wanted to continue to watch her in the NICU. The Nurse that evening noticed while trying to feed her she would drop into the 40'S.She notified the doctor and they transferred her into the critical section of the NICU. They put her into an oxygen tent. They did labs, x-ray and started an IV to give her Antibiotics. The stay in the NICU kept continuing day after day. The NICU doctors and cardiologists said she was a mystery. They did multiple tests and echos.

One night the NICU doctor called us at home around 10pm. She explained Evelyn in detail and why she was so puzzling. They couldn't figure out why her oxygen levels were so low. That night for the first time I was afraid she would die. Our family was very scared. The next afternoon while we were in the NICU she spoke with us. She started to mention little physical features that were barely noticeable to the regular eye. She went on and on with the list. And I mean on and on. I thought she was crazy. She was mentioning such remote things down to the direction the swirl of hair went on the back of her head. She said she had low tone. She said something isn't right I just can't put my finger on it. She studied my husband and my face. Part of me was irritated that she was talking about stupid things like this when last night after talking to her I was left with the feeling that she could die. Why did this even matter? She sent a neurologist and geneticist to see her. She had a MRI of her brain and EEG. She told me she wanted to send out genetic testing. I told her I had an amnio and it was negative. She seemed very surprised that it was possible. She said the genetic testing was more in depth. They decided on September 13th to do a cardiac cath to get more information.

While doing the cath they took blood to send out the genetic testing. The cath results gave a little more information. Her right ventricle muscle was very rigid and her left ventricle didn't pump well. The blood was shunting the wrong way through the ASD. It was going right to left. Her cardiologist said this could explain her low Oxygen levels. He said we could take her home on Oxygen if we felt like we could do that. We were more than ready. With three kids at home that we were ignoring and a 2 hour drive back and forth every day we were close to a breakdown. On the evening of September 15th, 2005, we brought Evelyn home. It was a good day. We had outpatient appointments scheduled for neurology, cardiology and genetics. The next several weeks at home were really hard. The anxiety over her Oxygen levels (she was on a monitor at home) and feeding were killing us. Her feeding deteriorated while at home. She had a weak suck. Breastfeeding failed right from the beginning. She would never wake up to eat. She would sleep 12 hours through the night if you let her. We had to set our alarm clock to wake her and feed her through the night. Over the weeks she never increased the quantity of formula she would drink. She would fall asleep within minutes of feeding her. I started to keep a food diary. If I spent every waking minute trying to feed her I could get about 10-12 0z a day in her. It was exhausting. She would only take 1/2 oz to 1 oz a feeding and it would take 1-2 hours to eat. She was burning more calories trying to eat than she was getting. She was on high calorie formula too. We tried every bottle and nipple ever made.

On October 17th we had a cardiology and genetics appt in Boston. The genetics doctor said someone cancelled the genetics test at the lab after they received the blood sample so the testing was never done on it. We would have to have the blood work drawn again. Her cardiologist admitted her to the hospital for 5 days for failure to thrive. They had the feeding team and nutritionists see her. She previously had a Barium Swallow in the NICU. They observed her feeding for 24 hours and then they recommended a NG tube. She was barely above her birth weight still at 7 weeks old. While in the hospital they did a trial of her off oxygen. They said if she could maintain above 80 all week she could go home off the oxygen. She did it. She maintained above 80 and even reached the 90's off oxygen. We were so happy. We replaced one tube for another. They even took her off the heart medication she was on (Digoxin) because she was doing so well. She was sent home on Friday with the NG tube and we started feeding her whatever she didn't finish in her bottle down her tube. She started to gain weight but she soon started to refuse the bottle altogether. They sent out the genetic testing while she was admitted for the NGTube.

On Monday November 21st (the day before she turned 12 weeks old) we had her follow-up genetics appointment. I was confident that the test would be normal even with all the problems she was having. I blamed everything on her heart. We sat down in her office and she started off the conversation with....Do you know what a chromosome is? Right then I knew her test was positive but for what? Evelyn's blood was 25% mosaic trisomy 21. Trisomy 21..isn't that down syndrome? But my amnio was negative! The rest of the meeting was a blur. She talked and I was off in my own head. I don't even know what she said. The only thing I remember was that she said MDS was the last thing she thought she could have because she really didn't have any physical features of Down Syndrome. She said it did explain her low muscle tone, poor feeding and heart defect though. I went home and couldn't even remember what she had.
Down Syndrome what? I thought there was only one type of Down Syndrome. Did it start with an M? I did an internet search and found the term 'Mosaic Down Syndrome'. That is it. There really wasn't much information on the web except for this site. Reading the personal stories really helped me. We slowly excepted the diagnosis. She is the same baby we have loved the past 12 weeks.

On January 5th Evelyn got a G-tube at 18 weeks old. This made a huge difference in our life. Evelyn was miserable with the NGT and was always gagging on it and throwing up. She was also getting quite good at pulling it out. It became quite clear that the feeding issue was going to become a long term struggle. She no longer ate anything by mouth but would suck on a binky. (It would frequently fall out though because of her weak suck.) On January 23rd (20 weeks old) we met with genetics to have a skin biopsy done. (Because my amnio was negative and that looks at skin cells.) The result was 20% MDS. I found out later that her exact diagnosis is Robertsonian Translocation Mosaic Down Syndrome. Evelyn is now 7 months old and gives our whole family such joy. I wouldn't trade her for anything. She is a very happy baby who rarely cries. (only when ready for bed) or sick. She does get frequent respiratory infections and has had 7 ear infections. She meets with an EN+T next month to see if she needs tubes. She has OT twice a week to work on feeding and PT once a week. She still doesn't eat from a bottle but we are starting to get success with baby food and just introduced a cup this week. She is growing great but still small for her age. She is up to 13lbs 7 oz. She probably will need open heart surgery at age 2-3 to close the ASD. She is a beautiful happy baby with striking blue eyes. She loves to crack up at her sister and brothers. And she is starting to roll belly to back non-stop!! Evelyn is truly a gift from God.         

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