Jody was born 8 weeks premature to my son's 18 year old girlfriend. He was diagnosed at birth as having MDS and Congenital Leukemia. He spent almost a month in NICU and a total of 6 months after his birth in the hospital. He was treated for the CL with massive doses of Allopurinol and Prednisone (both steroids). At one point he went from a weight of 4 pounds to almost 11 pounds...he looked like a miniature Pillsbury Doughboy...thankfully after he went into a "spontaneous remission," the medications were stopped and his weight went back to normal.

Further DNA and chromosome testing were done and he was re-diagnosed as having Transient Myeloproliferative Disease instead of CL. TMPD is a "clone" and a precursor to a full leukemia. I was told that Jody had a 30% chance of developing true leukemia...probably no later than by the time he was 4 years old.

I enrolled Jody in an early intervention program sponsored by our state. He was doing physical therapy, occupational therapy, massage therapy, speech therapy, play therapy...any kind of therapy I could get him into. I then enrolled him in half-day 3 & 4 year-old-programs through our public school system for physically/emotionally/mentally challenged children.

The only physical characteristics that Jody has are simian creases in his palms, extra wide space between his big and 2nd toe, widened space between his eyes, thickness of his neck, and a tongue control problem.

His primary problems are medical and learning disabilities.

Jody has had more ear infections and upper respiratory infections than I care to remember but after having tubes put in the ear infections stopped totally. He has allergies galore. He had reflux until he was about 3 1/2. He had infantile seizures for about 6 months...but they stopped as quickly as they started. He also has a heart murmur.

He still has difficulty with low muscle tone in his lower body...he trips and falls quite often...has difficulty with running...cannot maneuver stairs without a handrail...and was just starting to get the hang of his tricycle when he was diagnosed with Acute Myelogenous Leukemia in early October of 1999.

He had just started kindergarten with an IEP in place when the AML was diagnosed. He is enrolled in a wonderful school system that sends a teacher to our hospital when he is inpatient and/or our home because he is feeling "yucky" after chemotherapy. She comes 3 days a week for several hours each session. He is working on his alphabet, can count to 8 so far, is working on trying to write his name but recognizes his name when we spell it.

He has a pretty good vocabulary. Some words and phrases are very difficult for him to master but he continues to persevere and improve those. We constantly sound out words that are difficult.

Hi, my name is Sharon Gonzales.   When I was 18, I found out I was pregnant. At first I was shocked and scared, but realized I was being blessed. Then, when I was 4 months pregnant, the doctors told me that there might be something wrong with my baby and sent me to a genetic specialist. So when I went to a genetic specialist, I got an amniocenteses and found out my baby girl had Mosaic Down Syndrome. It was really hard for me to understand why. I guess that's what we all wonder. Well, with the support of her father and my family, I learned to deal with it. So we started trying to find as much information on MDS as possible. But we did not find very much and the doctors told us we just have to wait and see where the extra chromosome effects her. Well, when she was born, she had know heart defect, very mild characteristics, and no low muscle tone. I was really happy about that, but was still wondering what to expect as she grew. Now Aalyiah is almost 2 and is doing great.   She is walking, feeding herself, and starting to talk. She does not really have any special needs right now but I still wonder where the extra chromosome will effect her. I would love to talk to other parents with a child with MDS, so please e-mail me. It's great to know that I finally can talk to other parents that have a beautiful child like mine!   GOOD LUCK TO ALL YOU GREAT PARENTS!          Back to Personal Stories Page

I am the mother of a beautiful red-headed, 13-year-old daughter named Lyndsay. This is Lyndsay's story.

Lyndsay is my first child. She decided she wanted to make her entrance into this world 3 weeks before my due date. I was only in labor about 5 hours. Everything went fine with the delivery, she weighed 5lb. 5 oz.; however, when they brought her to me, she wouldn't eat. They took her back to the nursery to put her in the warmer because she wasn't maintaining her temp. The next day, they released me from the hospital; however, they kept Lyndsay in the special care nursery because she wouldn't suck and she still couldn't keep her temp. At this point they decided she was probably only 35 weeks and things would turn around in a day or so. At  the end of the first week, the doctors came to me and said they would like to do some blood testing to rule out some possibilities because things were about the same.  They were tube feeding her and she still wasn't maintaining her temp. A few days later she, started to come around and I got to take her home when she was 2-weeks-old.

She had her regular 2-week-old baby check the day after she got out of the hospital. At that time the doctor said everything was fine. I  asked her about the testing. She hadn't heard anything but called the special care doctors from her office. When she got off the  phone she told me the Lyndsay was mosaic translocation trisomy 21. I don't think at that point I really knew what she had said to  me. My mom was with me and when we left the appointment, we went to see a friend of hers that was a nurse. During the drive to  see the nurse, I was starting to cry, but I really didn't know why.  I loved my daughter no matter what. When we got to the nurse she  hugged me and told me not to cry. That there was a beautiful little girl that was going to make it in this world, but she was going to  need the help of her mom.

I made an appointment to see the doctor a couple of days later. The doctor then went over what the blood work had revealed. They  tested 20 blood cells, 16 were normal and 4 were translocated to the 14th chromosome. She put me in touch with the local birth to 3  program. Lyndsay was evaluated at 6 weeks and was then enrolled in the home-base program. Lyndsay was reaching most of the  milestones, a little behind on some, but pretty much on target.

At about 13 months she moved from home base to center base.  She continued to do very well.  About this time, well actually after  she turned 2, I got married to Ken. Ken had 2 children from his previous marriage. Sean, who is almost 2 years older than Lyndsay,  and Sarah, who is 5 months younger than Lyndsay. Just before Lyndsay turned 3, Ken adopted her.

Back to Lyndsay's story.  At 3 she was in the early childhood program in our county. When it was time to start school, Lyndsay  went to regular kindergarten. She then went to regular first grade, about half way through the year, she started receiving resource  help with reading. At the end of first grade, we didn't feel like she was ready to go on to second grade so we had her repeat first grade again with resource, hoping that a second year in first grade would be easier for her. The next year she was in regular second grade with resource for reading, spelling and phonics.  At the end of second grade we had a decision to make. Lyndsay really wasn't ready for regular 3rd grade and the resource program could only have a child less than 50% of the time. I had always told myself that I never wanted Lyndsay in a self-contained classroom.  However, the topic of the staffing was that Lyndsay needed to be in a self-contained room, with some subjects with a regular classroom. The people at the staffing convinced me to just go and talk to the  teacher of the self-contained room. She was absolutely wonderful!!   I think I had built something up in my mind that a self-contained  room was giving up and the wrong thing to do. I was soooooo wrong. Lyndsay did very well in the self-contained room. She was in  smaller groups and received more attention in classroom work. She continued to feel good about herself and school.

She is now in the 6th grade. She has PE, music, recess and lunch with regular 6th graders. Her reading level is between 3rd and 4th  grade level and so is her math. She reads very fluently and loves to write. She has very beautiful handwriting. Actually hers is probably better than either Sean or Sarah's.  Math is OK for her adding, subtracting and multiplication she can handle with no problem. Time is something else she handles very well, in fact, sometimes I think too well. She is a very time-oriented young lady.   She tells me when basketball practice is, what time she thinks dinner should be, etc...  Her big down fall is money. She really has a  problem with the concept.  Reading-wise, I think she actually sometimes reads beyond her comprehension. Science is probably the  hardest class for her. She just really doesn't understand parts of a flower or why she needs to know them.

She actually loves school and always looks forward to a new school year.  She tries really hard and we get nothing but praise from all of her teachers.  Lyndsay also has 2 other siblings. Ken and I had a son, Kyle, who is 4 years younger than her and a daughter Dana, who is 8 years younger than Lyndsay. 

The only medical problems Lyndsay has had is with her ears. She has had 6 sets of pe tubes (the first set being put in at 6 months);  however, I think she has finally outgrown the need for them. It has been 3 years since the last set fell out. Her hearing is on the low  end of the normal range. She does have some speech issues. When she gets upset about something, I sometimes cannot  understand what it is she is saying, but for the most part you can understand her. She is also farsighted and has had glasses since she was 2-1/2.

Lyndsay is a very well adjusted 13-year-old. She participates in girl scouts, our church youth group, plays community-based softball  and basketball.  She absolutly loves basketball. She also loves video tapes and listening to music. She likes Britney Spears and the  Dixie Chicks. She has an advantage in that Sarah is so close in age. They are very good friends and do a lot of social things  together.   Most of the kids they hang around with accept Lyndsay for who she is and if they don't, well then Sarah wants to know why.   Lyndsay is there for Sarah and Sarah is there for Lyndsay. I just hope that as they grow older they continue to stay as close.

I think I am very lucky to have the family that I have. Everyone in the family is special, and we try to treat the kids the same. Lyndsay  doesn't get any special favors.  She has chores just like everyone else.  We have never treated Lyndsay differently or accepted that she couldn't do things for herself.  We are so proud of Lyndsay, as well as the other 4 children that we have. I do look at her sometimes and am amazed in what she has accomplished and can't imagine her being any other way. We have our share of difficult times, but you know all of the kids have difficult times now and then.   Actually, Lyndsay has fewer than some. She is her own person and she likes who she is.  That I think is half the battle.                 Back to Personal Stories Page

Grimes
Clarksville, TN
tnlaw97@aol.com
Story submitted:  May 4, 2000

We had a C-section on April 27, 2000, at 2024hrs. at Vanderbilt University Medical Center.  The next morning the Pediatricians told us they thought Jackson had Down Syndrome. Genetics came that afternoon and told us they thought he didn't but would do the blood test anyway to rule it out.

We got the results back Monday, May 1, 2000, and were told he had MDS.  I had never heard of MDS, but I had heard of DS.  I did not plan on having any children at all because I am a Gulf War vet and was concerned about possible birth defects.

He weighed 4-12.  We were told his blood test showed 60 percent trisomy.  We are tired, going through an emotional rollercoaster.

He sounds like Alvin, Simon and Theodore were he makes sounds, he is so little.   He picks his head up, and has been trying to hold his bottle, sometimes, during feedings. He pulls his pacifier out with his hands sometimes. No known health problems at this time.

We have been in contact with the local providers of services and have had a referral made, but that is all so far.  We don't know what is going to happen, we want answers, and know we will only get the answers we want with the passage of time.

Addendum, submitted May 31, 2000 - We have had to learn so much about what our child has and what we have to do. It is unbeleiveable the stress you go through. this being my first child, I am about cluless anyway, but the is my wife's second child.   We have had at least seven doctor's visits, more because we were wimps more than anything else. We had an EKG done in mid May  and were told that the results came back normal. The doctor told us our child just did not act like a DS child, but then he had never seen an MDS child before.  Just before he turned four weeks, he had gained a pound over his birthweight. He keeps surprising us with things he is not supposed to do. It is almost kind of sad to say, but we expected so little after talking to the doctors, that everything he does is better than expected.  We just hope for the best, and accept what doesn't go our way. We have to for him now.

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My son Christopher was born in April. We did not know at first he had mds. There was some suspicion on one of my 4 ultrasounds when I was pregnant, but my doctor didn't feel there was anything else consistent with the down's. Needless to say, he didn't follow up with a amino. 

It would explain alot now looking back in hindsight the events that took place. It wasn't until he was 5 weeks old that he was diagnosed. Unfortunately we had to go to the hospital because Christopher caught a "stomach bug" of some sort. The pediatrician that saw him had suggested doing some other workups on him. I didn't think anything of it. He doesn't have real strong features and he is my first. So I just thought things were normal, except that he slept all the time. I didn't know what low tone meant or should I say "floppy". Here my husband and I are going to the hospital for what we thought was a bug, which turned out to be, but also being struck with this ungodly idea he had Down syndrome. 

Three days later Christopher was discharged from the hospital feeling better, but, with uncertainty, we still were waiting the results. I had already convinced myself what I didn't want to hear.  My husband and I started reading and we came across this type of Down Syndrome.  I had myself convinced that this is what he had. I never knew there were different types of ds. When the geneticist called a few days later, it was confirmed that Christopher had mds. I had a glimmer of hope, and it came true. What I really couldn't believe was that I went into the hospital with one thing and came out with another. I was devastated! I felt sad for my son. Not that I wasn't going to love him any less, but that other people might not. Then I started to think of all those dreams I had for him when he was born, I was afraid he wouldn't be able to fulfill any of those. Three months later, I'm realizing that isn't true. I still have days that I feel sad. And I don't ever think that will ever go away. 

But I do know there is hope for Christopher. I can't tell you right now what he'll be like when he's older, but I can tell you he's a bright little baby and he's already proving me wrong with his abilities. He is a very active boy. Christopher wakes every morning talking to himself, pleasant as can be, wiggling around in his crib. We've started early intervention and they are just as pleased with him. They say he is very active for a child with ds. He is a very happy baby and he makes me proud every day. I just pray that God gives me the strength to love this boy with all my heart and to help him through whatever hardships he may encounter throughout the rest of his life. I'm the lucky one, Christopher chose me to be his parent!

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Guntrum
Erie, PA
NURSELJK7@AOL.COM
Story submitted:  March 7, 2007

During a prenatal visit, my doctor offered the Down Syndrome screening test. I had tons of other blood work to be done, so I decided to have the screening test as well. I never thought it would come back positive. I was hysterical when it did. The next day, my husband and I went to see the doctor. He said based on the blood work, our chance of having a DS baby was 2.2%-my husband and I love to gamble and decided to take the odds. The amnio was offered to us and we decided against it-it didn't matter to us if our baby had DS or not. Our beautiful baby girl, Ella Taylor was born 12/18/06 by C-section due to breech position. I think I knew the first time I saw her that she may have DS but no one said anything. The pediatrician came in that afternoon and saw her-nothing was said. The next morning, a different pediatrician came in at 8:15am and examined her-he suggested the possibility of Ella having DS. Again, I was hysterical the entire day. I knew very little about DS. She didn't have a lot of features of DS so the doctor suggested genetic testing. Right after Christmas, we got the news that she had MDS that affect 60% of her cells. Her echo was normal. She has no digestive problems. She eats and sleeps well. She is absolutely perfect and adorable. The doctor, at this point is using "typical" kids milestones for her. Early intervention comes once a week for occupational therapy-her therapist says she is doing so well that she may have to cut back on her therapy to once every other week. Everyday, we feel so lucky and blessed that she was given to us. We are so proud of every little accomplishment. She has really humbled us and our families.

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Nathan was born on October 7, 1994, on the maternity unit that I worked on as a labor nurse. He was a perfectly normal baby, except that he would not breastfeed. He had a dysfunctional suck, so we worked with him for a while. He never quite got the knack of a good latch, so I just pumped milk and managed to get him breast milk for the first 3 - 4 months of his life. He was not diagnosed with Mosaic Down syndrome until he was 4 months old. It was noticed by his physician that he had some facial characteristics and low muscle tone in his shoulders. (There had been some times during his early neonatal period that I thought he looked like he had Down syndrome, but I quickly dismissed the thoughts as just nervousness coming from a new mother/labor nurse.)

At four months of age, Nathan was developing normally with the exception of some low muscle tone. He has had no cardiac problems, no respiratory problems, no gastrointestinal problems (except a hemorrhoid), no hearing or visual problems, AND NO EAR INFECTIONS!!!! Praise the LORD!!! Nathan's most challenging area is in speech. He has made great advances in his gross motor and is now where he should be developmentally for his age. In the past year he has made a year's worth of progress in all areas instead of lagging behind. He will be going into the first grade and requires special education intervention but he is learning to read. He is beginning to sound out words on his own when he reads. Nathan has a brother who is 18 months younger than he...oooops. They get along great. In some areas Nathan is ahead of his brother and in some areas his brother is ahead of him. They are great gifts to each other. 

I was very excited to come across this website. When I first found out about MDS, I tried to find some kind of information or support. I could find none. I felt like a pioneer.... but very alone.  I look forward to contacting someone or someone contacting me. God's blessings in the name of Jesus to all who read this!!            

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Our daughter, Lori, is going to be 22 on March 12.  She was diagnosed at age 4 1/2 as having mosaic down syndrome.  At the time, I believe, we were told that the blood sampling showed only 6% of the cells were affected.  The low percentage doesn't make a difference--Lori is classified as educably mentally retarded. Incidentally, I was 23 going on 24 when she was born, and she was my first pregnancy.  I had a difficult delivery and we initially thought Lori had received brain damage due to the delivery because she was born blue.  Early though, I realized she just didn't look like other kids.   Unfortunately, I had never been exposed to down syndrome children or adults.  I remember describing the differences to our new pediatrician, who gave me a list of possible diagnosis.   Mosaic down syndrome was on the bottom of the list and was the last test we subjected Lori to.  Sometimes, Bob and I think we were lucky to get Lori's diagnosis later than after birth as we, in our innocence, aimed for the same milestones as other parents.  Other times, I get angry because I think of all of the infant stem programs we missed.

On a positive, yes it has been difficult!! But understand I cannot imagine my life without either one of my children exactly the way they are.  Lori has met the challenges and requirements of a regular education diploma and is graduating in June.  I would estimate from all of the wonderful testing that we have had to endure that Lori is functioning on a 6th grade level academically--which originally we thought as a realistic goal to achieve and were told by the experts that we were not facing her "handicap--yet we managed as a family to help Lori achieve this.  At home she does very well and spends time (cherished time she tells us) alone when we are all at work.  Our next challenge is finding employment and eventually assisted living.  Incidentally, Lori is an extremely happy and well adjusted young adult who does not think she really has a disability.  Also, Lori and Lisa have a healthy sibling relationship--they hate each other and stick up for each other.  The only difference is that Lori is the oldest and Lisa has in actuality taken the older sibling role and watches out for Lori.  Bob and I will be married for 28 years in July--despite these and many other challenges. 

If I may suggest, as early as you can teach your child to be their own advocate.  In middle school, we had Lori participate in a portion of the individualized education program (after test results were shared). Lori wanted a regular education diploma and, with, alot of reservations and prayers, we supported her in this--but we had alot of doubts because she didn't seem motivated enough.  We are amazed that she did it and the changing point seem to be when we backed down on trying to help her all the time.  Incidentally, we had one very special teacher--Mrs. gist--who advocated for Lori also.

Surround yourself with supportive family and friends.  Love your child as they are.  Learn to advocate and teach all of your children to advocate.  MDS is certainly not the end of the world, nor is it your fault.  I just look at it as a fluke of nature--as precious as a four leaf clover.  I hope you all have an easier time than we did as there certainly are more resources and information now.   If we can help, e-mail us--be patient with me as I'm really just learning how to use the computer--so send a phone number too--I lose e-mail's--I don't know how I do it--incidentally, Lori can use the computer much better than I can.    Back to Personal Stories Page

Hines
Little Rock, Arkansas
kimberly.hines@comcast.net
Story submitted:  May 23, 2006

Hello everyone!  My name is Kimberly Hines and I have a son named Aidan who will be 3 years old in October with MDS. I was sick all through my pregnancy with him and had a sonogram at 6 months that had discovered Aidan’s femur bone was shorter than average. I was referred to a specialist who did another sonogram and advised me that a short femur bone could be indicative of DS, but that He “had only been wrong one other time in his whole profession and my son did NOT have DS.” I left the clinic feeling relieved with the assurance he had given me. I had refused any type of blood testing for DS during my pregnancy due to the fact that for the most part it was not very accurate.

Aidan was born October 9, 2003 as a healthy beautiful baby boy. At a 6 month ‘well’ visit Aidan’s pediatrician voiced her concerns about the possibility of Aidan having DS. Apparently his well visit prior to that a new nurse that the clinic had asked Aidan’s pediatrician if he had DS, she laughed it off and said “No! That’s just Aidan!” At this visit she noticed only 3 things that were indicative of DS: the epicanthal folding of the eyes, low muscle tone, and tongue that seemed quite sizable considering the dimensions of his mouth. Honestly I was stunned and honestly, quite angry that she would think this about Aidan (which was, of course, only my initial reaction.) I couldn’t understand why he wasn’t diagnosed at birth if he had DS.

After Aidan’s blood work was taken and sent to the lab it took two weeks to get the results back, which seemed like forever. During this waiting period I had done an extensive amount of research regarding DS. This particular website is where I found a majority of information on MDS. With all of the information I was able to obtain I was already convinced of his diagnosis before we met again with Aidan’s pediatrician. The lab had tested 20 cell lines, only 6 coming back with the extra 21st chromosome.

I immediately put Aidan into a day school where he would get all the therapies he needed in order to develop. We had tests run on his heart to make sure he didn’t have a congenial heart defect, had x-rays on his neck to check for any problems and he checked out just fine.
Early this year we switched schools because of an incident that had happened and found a new school called Access. They have an amazing program for kids with special needs and have just made a world of difference in his speech, motor skills, and feeding. It was probably the best move we could have possibly made for Aidan. He is almost right on target of where he should be developmentally.

I never thought I could love another human being as much as I love him. He may have a few extra chromosomes, but he is perfect in every way and I would not change one hair on his head!     Back to Personal Stories Page

Houldey
West Midlands, England
hotbabe1983@hotmail.com
Story submitted:  August 14, 2006

When you find out you're pregnant for the 3rd time I was shocked because a month before I just gave birth to my daughter I thought nothing else of it.  I was gonna love my baby no matter what.  My partner wanted me to have an abortion cause it was soon but he soon changed his mind when we went to have my 1st scan (14 weeks ).  At 16 weeks I went to have the test to see if my baby was growing as it should be and no defects.  I went back at 20 weeks pregnant and they told me everything was fine...even the blood test was low risk of having down's baby.  I hadn't got to worry, I already had 2 healthy children so I didn't think anything of it.

At 38 wks and 5days I had to have a c-section under general anesthetic to get him out.  When I came around he wasn't by my side, so I  asked where he was and the midwifes explained that he had to be taken to the NICU cause his oxygen was really low and his lips were  blue. I was taken upstairs to get some rest but I just wanted to see my son.  All I had was a photo of him.  Two hours went by and a specialist came to see me and his dad and told us that they think our son had some sort of syndrome. I went straight to see him.  I cried but an overwhelming love came at once. They took some blood from him to test his cells. He was also in an oxygen tent to help with his oxygen levels that where dropping in their 70's 60's.  He had a tube up his nose so he could feed (I wanted to breast feed) so they let me do it that way cause he wasn't sucking properly.

About 4 days after his oxygen levels were in there 90's and he was sucking on a bottle, so they let him go home.  We decided to call our little miracle Jamie Callum.  When Jamie was 2 weeks old, we got a phone call saying that Jamie was down's syndrome mosaic.  I  wasn't expecting to hear those words but the more he explained, the more I loved him.  The hospital was more shocked to hear me say  "so what"?  He's just like any other child.  The hospital staff was expecting me to say that I don't want him.  They called me a mum in a million and I was so proud to have Jamie as my son.  It hasn't been easy for us.  Jamie was 3mths when he was took back in to hospital with bronchitis and his oxygen was in 60's, so they kept him in cause he was not taking his food very well.  He kept being sick after each meal he had.  They gave me some stuff to put it into his bottle and it should calm his acid down in his stomach  It did for a bit but when he should have been on solids, he wouldn't swallow.  He kept choking on any sort of food so the hospital transferred us to Birminghams Children Hospital for ear, nose and throat specialist.

Jamie's consultant was a very nice man.  He mad you feel welcome.  He had a look at Jamie.  He put a cam down his nose to have a look what's going on.  He said that Jamie does have a floppy windpipe, that's what cause his funny noise's when he is breathing.  If that doesn't correct itself, Jamie will have to have an operation when he is 3yrs old.  The 2nd thing was the reason Jamie couldn't eat solids was his tonsils had swollen.  They were too big for a boy his age.  They had to get them out so he could eat solids.  He was only having sma white and yogurts.  When Jamie was 11mths old, children's hospital called Jamie in for his op for his tonsils.  The op went well but about 3hrs after, Jamie's oxygen level dropped into the 40's, so they rushed him in to intensive care.  They couldn't bring up his oxygen,  so they put him to sleep and put a tube down his throat and that's how he stayed cause Jamie wasn't breathing on his own.

For a whole week I was praying he would be ok but he still didn't change.  After another 2 days there was a change in him.  His throat was going down so he started to breath on his own. Jamie's consultant put a tube down his pipe to have a look and when he pulled the curtains back to talk to us he was smiling.  When he moved out the way, Jamie was awake and on oxygen but the best thing was he was breathing on his own.  I was so relieved, I couldn't stop crying.  2 days later he was allowed home.

Today he is healthy.  I cannot fill him up.  He makes us all smile.  He never cries unless he's tired or ill.  The best thing that's ever happened to me is Jamie and his other 2 brothers and sister.  They love him as much as I do and so does his dad.  He is 16mths now.  He's still small for his age and he cannot crawl, and he can say mama and dada and he knows when you're talking to him, but I have all the time in the world to watch him and teach him all those things.  I have said, he's the best thing in my life and he keeps me going knowing I wake up to a smile every morning.  When a woman said to me your life is over if you have an down's syndrome baby, I say life begins.  They give you the love that nobody can give you apart from your other children.  It's hard work, don't get me wrong, but for the rest of their life, they look at you and they know we are gonna love them and protect them no matter what.  So don't listen to people when they talk down about down's children.  They don't know what they are talking about.  They are just as human as the rest of our children.  Thank you all for reading my story.

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Howard
Taylor, Nebraska
jhoward@genie.esu10.k12.ne.us
Story submitted:  November 5, 1999

Eric was diagonised w/mds when he just turned 2 years of age--exactly 2 weeks before his sister was born.  We  knew he had some learning disabilities along w/speech disabilities but we never dreamed that he actually had  down syndrome.  To say the least, we were floored--he doesn't look like he has mds or any disability.

When he was 6mo, he was diagonsed w/craniosentiosis and one doctor recommeded head surgery, so we got a  2nd opinion and went w/the helmet therepy.  So he wore most of the time the helmet all day and night until he  was 1yr.  As far as the speech, we thought it was all the chronic ear infections he had and that he would outgrow   them.  (He had ear tubes put in at 2 1/2 yr) so we were concerned but just figured he'd outgrow that problem.  The last time he had ear infection the dr asked if he had a heart murmur, which at that time we had believed that  it had gone away, so we went to the specialist and found out that it hadn't gone away at all, but that he had 2  holes in his heart (they called it aterial sepital defect).  So he had heart surgery at 3 yrs of age.  We knew he had 2 holes going in but it turned out that he had 3. That was scarey to turn him over to the drs. to fix the problem,  but he benefited from it within 2 days--he had so much extra energy--sometimes too much.  

Because of my age, 39 at the time, I was offered the choice of having an amniocentesis. Since I had one done my previous pregnancy, I didn’t think too much about it. My husband and I were not concerned about there being anything being wrong but thought it a good idea to make sure and find out the sex of the baby. Before we even did it, the genetic counselor talked to us about the possibilities of trisomy 21 and even more rare and highly unlikely mosaicism.

When we received the news I was about five months pregnant. Our child had 50% trisomy 21 cells, and was a baby boy. We were devastated. We grieved for the child that we thought we had lost. My husband was distressed about how the child would be treated as he grew up. I grieved for myself. How would I deal with a retarded child? Would he require so much attention that I would neglect my other four children? Would I be able to communicate with him? How long would he take to be potty trained?

I do regret one thing, ever having doubted my child and my Father in Heaven. Ben was born January 15, 1999. And so far has been healthy in every respect. He turned one year a couple of weeks ago and has just had his first ear infection. He is in the tenth percentile as far as growth and weighs 19lbs. My younger daughter was also petite so I’m not real concerned about it. He crawls by pushing up with his arms and then dropping down his arms and kicking out his legs (kind of like a seal). He gets around really fast that way and has been doing it since about six months. I have seen him crawl right to left but prefers the seal crawl. He pulls up to furniture and pulls everything off of the tables. He sticks everything in his mouth, but is not getting selective about what he keeps there. He has a killer smile and melts anyone he looks at.

My first reaction was that I did not want to be the parent of a special child, but now I realize that I would be the one to lose if I were not. How blessed I am! The first time I held Ben, I realized what a fool I had been and much time I had wasted wishing for things I thought I wanted. Ben is a joy. He has a kind of a calming effect whenever you hold him. If you are sad, he makes you happy. He is a comfort to my family and me. If there was a magic potion that would give Ben all normal cells sure I would want it because Downs is something he has, not something he his, but I wouldn’t trade him for any other child. My husband and I joke that it took us five tries to get it right. To us he is perfect.

I am glad I had the amniocentesis done. It gave us time to prepare and look into help for him. In Oklahoma we have something called Sooner Start for developmentally delayed children or children at risk for delays. They come to check on him every other week to make sure he is on track and so far so good. He is starting a class twice a week for kids with disabilities. I don’t know that he has any, but I want him to have as much early intervention as possible so that he can realize his full potential. I don’t know that he is retarded and will not for several years. As a teacher, I have seen children with low IQs that have no nurturing environment. IQs of 80 and below are considered mentally retarded. Many Downs kids have IQs well above that. They are not retarded! Whatever the outcome, I am grateful for Ben and thank my Heavenly Father for allowing me to be the mother of such a wonderful, sweet child.             Back to Personal Stories page

My daughter, Felicia, was diagnosed as Down's Syndrome 4 weeks after her birth. I was not told anything about her being possibly Down's as I guess the Doctor's wanted to be sure before they told me.  At the time, they told me she was Trisomy 21. I began attending a support group for Down's and met other parents with Down's children. We were stimulating her with music, color etc. However, it became clear that my daughter was reaching all the milestones of "normal" babies.

At 18 months I had her blood re-tested and it came back 1/3 Down's and 2/3 normal. This is when I first heard about Mosaic. At 22 months she had a skin chromosome test and the skin was normal.  At 3, my husband and I had genetic counseling to determine the risk to us having another Down's child. They told us that we had as much risk as anyone else and we were fine to have more babies, without worrying.  At 10, I had her blood re-tested and it came back 20% Down's and 80% normal. I am looking to have her re-tested when she is about 15.

Presently she is in high school. She loves music--Backsteet Boys, Human Nature, Savage Garden, loves movies--Leonardo DiCapro, Heath Ledger, is into dancing, singing and her great love acting. She also loves crafts and loves doing things with her hands.

She struggles at school, however no more than other students in certain subjects--especially math!  She is a delight to have!  I would love to hear from other parents.  Marie         Back to Personal Stories page

My daughter, Ariel, was born 4 weeks early on January 30, 1994. Shortly after her birth her pediatrician felt that she was a little floppy and decided to run some tests. He didn't really feel that she had Down Syndrome but just wanted to make sure that there weren't any problems. The other doctors in his practice felt that he was being ridiculous for even running the tests. Sure enough about a month later we got the results back that Ariel had Mosaic Down Syndrome. We spent about 1 hour of crying and then realized that that was not going to help Ari. Her father and I had lost a set of twins the year before and this paled in comparison.

Ariel began her early intervention services at about 2 months receiving special education, speech, PT, and OT. She did very well and was able to stay right on target with most of her development. She rolled over at 5 months, crawled at 8 months, spoke her first word at 11 months, and walked at 14 months. She attended a special education preschool until kindergarten and did very well.

Ariel is now 7 years old and is in the 2nd grade. She has a special ed teacher who comes in to the classroom for part of the day as well as a para-professional. She is reading on grade level and has fantastic spelling skills. Her weaknesses appear to be in math and getting her thoughts down on paper.( Although most of that has to do with laziness!) Her other weakened area is her speech. She receives speech therapy 3x per week at school. 

She is doing really very well in school. Most of her problems tend to stem from an additional diagnosis of ADHD. (She takes concerta.) We had her IQ tested last year to help us get through to the school system about her abilities and she has an IQ of 98! Way to go Ariel! 

Ariel is a very active and happy child and I wouldn't change her for the world. She's a really great person. She's my hero.

I should also mention that Ariel has identical twin sisters named Alexis and Jaedyn born January 16,1999. They love their big sister very much.                 Back to Personal Stories page

Iversen
Norway
toroiver@online.no
Story submitted:  January 27, 2000

In September, 1996, Lasse was born in Trondheim, Norway. We had got a perfect little boy.  He looked like any other of the newborns we saw around us. It was a great shock to us when the doctor told us he believed Lasse had Downs syndrome. He wasn't sure, so we had to wait for a fortnight before the hospital confirmed the doctor's suspicions. As Lasse was our first child, we didn't know what to do. Or what it meant. And when the doctor told us he had mosaic downs syndrome, we tried to find any information on the disability.

The doctor helped us to get in touch with two children in Norway (born 1995 and 1991) who also had MDS, and that was the best help we could have gotten at that time. We still have regular contact with the others.

Lasse is a very well functioning boy. He is active, likes the Teletubbies and Postman Pat very much. Every weekday he goes to kindergarten, where he has a lot of fun amongst the other children.

The morale is; It didn't turn out as black as it seemed when we got the message back in '96.    Back to Personal Stories page

Johansson
Sweden
annikaj@swipnet.se
Story submitted:  December 8, 1999

I'm a 26 year old mother from Sweden. I´m sorry if my english isn´t so good but I hope that you will understand what I´m writing about. 7 weeks ago I gave birth to a lovely girl. She was very cute but I felt there were something wrong with her. I told the doctor that she had mongolian eyes. After two days they came into my room and told me that they wanted to take a test on Emma. She could have DS but they thought that she didn´t have it because she didn´t have the most characteristic symptoms. But I knew that she had DS. I were very sad and didn´t want her. But here in Sweden does people think that I´m crazy because I had those feelings.

Everybody said that she is my daughter and I had to take care about her. I love her very much but I am so scared what`s going to happen in the future? Am I strong enough? Many questions and no answers! Today is the first day that I really realized that I always will be her mother whatever happens in the future. She is so nice and develops very good. I hope I can write back in a few weeks and tell you that I`m a litle bit more happy that I had Emma as my daughter. And that I can exept what happend to her just like her father can do. Maybe it´s more difficult for us mother´s to accept.                                              Back to Personal Stories page

My son was born three weeks after my 20th birthday, he was 8 weeks early. I didn't see him for 24hrs after he was born as I was in intensive care and so was he. My husband is of Asian origin and we were convinced he would have dark hair, eyes and skin, yet there he was fair haired, fair skinned and blue eyed, the only trace of his father was a slight slant to his eyes.

For five days we were told he was small but healthy, we had no suspicions, until when he was five days old the doctors told us there was a problem with him. So the doctor walks into the room and says we believe that Cameron has downs, and just because he doesn't have all of it doesn't mean he doesn't have it, and leaves. I didn't respond well I couldn't believe it - why me.  The worst part was that they still were not sure, out of 6 blood tests. 3 positive and 3 negative, his diagnosis all lay with the 7th result.  I didn't wait for the result.

I never knew there was such a thing as mosaic downs and most doctors don't understand it or believe there are any differences.  It made it very hard to deal with at the time.

Now, my son is 10 years old and until recently, was at a mainstream school now I'm teaching him at home. He is a loving giving little boy with a love of music and of family and friends.  He is social and quite outgoing considering he is also legally blind.

But it is my resolve that no one will tell me what my son will or won't do, don't put your limitations on him.
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Loden
Austin, TX
Cheryl_Emmons@dell.com
Story submitted: March 29, 2006

My son is about to turn 3.  He is the LOVE of our lives.  Dylan was born at 36 weeks because I had toxemia.  Dylan did not show any characteristics of Down Syndrome.  He had a mild case of jaundice and once that cleared up they sent up home.  When Dylan was 2 weeks our Pediatrician heard a murmor.  We saw a cardiologist and they told us Dylan had a complete AV canal defect and would need open heart surgery.  They sent us home after telling us.  We went home and looked up the name of the defect on the internet.  It said 50% of the babies that have it have down syndrome.  We called the cardiologist back and he said Dylan did not look like he had down syndrome but we could have him tested.  2 weeks later we were told he had MDS.  Dylan is the happiest little boy I have ever seen.  He is very sociable.  He wears glasses only because he is farsighted just like his mommy is.  He now has a younger sister and plays with her all day.  He loves ELMO, going for rides with his Grandpa and being outside for hours at a time.  He loves to jump especially on the trampoline.  His speech is delayed.  He walked right at a year old.  It is very scary to hear that your child has down syndrome at first but the biggest thing is to just let them be who they are and achieve the most they want and can out of life.  Dylan is wonderful and no matter what happens he is not defined by having MDS.  I want to thank my parents for all of their support.  Dylan has the best grandparents in the world.  They love him no matter what and he is always going to be "OUR DYLAN."

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My husband and I had been trying over 3 years to get pregnant, and had pretty much given up hope of it ever happening when lo and behold, it happened! I will never forget the utter joy I felt when the realization that I would be a mother, finally, dawned on me. I immediately started eating better, taking vitamins, etc...all the right things and none of the "wrong" ones. My pregnancy was very straight forward, with some morning sickness and the usual swollen ankles and hands. My baby's due date was September 18, but on the morning of August 21, my water broke. 15 hours later, I gave birth to Elizabeth, my darling angel. She was 6lbs at birth, and absolutely gorgeous. There was no indication that there was any problem. Two days later, my GP (who had delivered her) told me that he suspected she might have Down Syndrome. I was devastated, and utterly confused. Why, how could he think that? She looked perfectly 'normal'. He explained that he was now hearing a heart murmur that wasn't present at the time of her birth, he had noticed a crease on her right hand that was often indicative of Down's, and that she was somewhat floppy in her musculature. I was numb, and couldn't bring myself to believe that it was true. The blood work was sent out, and sure enough, 3 days later, we were given the final verdict: Trisomy 21. Although we had prepared ourselves for that possibility, hearing it as a definite was devastating. Still, she didn't seem as though she had it. Even the ICU nurses said that she didn't act like a baby with DS. After we brought her home, we received word from our pediatrician that she had Mosaic Down Syndrome. We had no idea how significant that would be to Elizabeth's future.

Elizabeth had open heart surgery at three months of age to repair a large VSD (ventricular septal defect) and since her recovery has taken off in her development. She has reached her milestones on time and even early in some cases. There have been many times when people who don't know she has MDS have expressed tremendous surprise when they learn she has it.

Elizabeth is the love of my life. She is a sweet and happy baby, who is intensely curious about her surroundings. I have been extremely blessed to have the support of my family and my husband's family, all of whom are dedicated to helping us help her reach her full potential. I have no doubt that she will go far in life, and I will be there to encourage her all the way. I am fortunate to be a teacher, and plan to do a lot of home teaching with her. I am very excited about her future, for I feel that it will be wonderful. I feel blessed, also, for I truly feel that God chose me to be her mother out of every one in the world. And even if there was some magical way that those extra chromosomes could be taken away, I wouldn't do it, for she would no longer be who she is. And who she is is just perfect to me.                     Back to Personal Stories page

Hello, my name is Jennifer. I was 21 years old when I got pregnant. I was married with two step children. We couldn't have been more excited when we found out we were going to be having a baby. The pregnancy for the most part was easy. I barely remember morning sickness, no huge weight gain, at around eight and a half months I had some small issues with hypertension, but nothing huge. The doctors decided to induce labor at 39 weeks just to make sure the hypertension didn't cause any problems. The rest of my care was a regular circus. Really more issues than anyone would ever care to hear about. The short version is that after 4 days of labor, with no food, and a staff of people that thought I was exaggerating, a trip home and a high speed return to the hospital; the doctors finally rushed me in for an emergency c-section. Bryce was born on August 16, 2002 at 11:57 pm. Little did I know my life was about to change in more ways than just being a new mom.

It was the next morning when the doctors came in with those horrible looks on their faces. They said they thought it was a possibility that he had DS.

They were very unsure of their need to test but we all agreed that it was better to be safe. Most of the concern was with his tone but as the doctors stated the sedatives they gave me because they thought I was faking labor could have caused that reaction in him (like I said very bad experience). Two weeks later we got that call. You know in all honesty I don't even remember the percentage, it was never important. The more important thing to me was always that the same day we found out that he had a heart defect. We were sent for an echo even though they did not hear any murmurs but they wanted to be safe. There it was, as plain as day. Even I could see it. We were told that he was not in trouble yet but we had to be careful that he could go into heart failure at anytime.

I feel horrible for admitting it now but I definitely went through a period of loss. It was almost like I felt that the child I had prepared for during my whole pregnancy had died. The life that I had dreamed up would never be.

Then one day when he was only about 3 weeks old I fell asleep in a chair with him in my arms and woke up with him twirling my hair between his fingers (just like I do when I am thinking really hard). Just like that the pitty party was over, at least for me it was.

His father was a much different story. I'm not sure which part was the part that scared him most but all I knew was that I could see him moving farther and farther away.

Six weeks before Bryce had his surgery his father and I separated. It was not pretty. He did show up for the surgery, that I was truly shocked about.

He wouldn't spend time alone with him though. Bryce was 11 months old the day of his surgery (almost to the day). I have to admit it was so hard seeing the one person I am suppose to protect lying there knowing there was nothing I could do to make it better.

Bryce had one of the most amazing recoveries I have ever even heard of.

Doctors wanted to discharge him less than 24 hours after his surgery. I was so amazed by the strength that someone who seemed so small and frail could have. The day we left the hospital we started a new life. I no longer had to live in fear of him getting sick.  I finally got a whole nights sleep, and we started over.

Luckily my family has been the most supportive and loving influence. My father is one of his best friends.

So fast forward. He is now 5 years old, in school, doing wonderfully. His father still is not in our lives ( he has only seen him once in the four years since his surgery). Sometimes I think it might be better that way. He will never be strong enough to be the kind of dad that Bryce deserves. I am now a full time student and work part time. It finally feels like we are where we are suppose to be. Bryce is the most amazing thing that could have ever happened to me. I consider myself so blessed everyday that I get to be his mom. As with every child he is my largest source of frustration and pride all tired up in one package and I wouldn't have him any other way.

To those of you who are just starting this voyage: hold on tight there will be moments when you just want to give up, but just know that you will make it through. We are all so lucky to have these beautiful children. Even when it is tough it is the most rewarding job you will ever have.        Back to Personal Stories page

Daniel was born on 22/1/99, a very much wanted third child. I hadn't bothered with any screening tests this time but we were getting him tested at birth for another inherited condition (Charcot-Marie Tooth disease). For the first year Danny did well, a very happy easy baby although he did have problems with swallowing and snored very loudly!! He was late like our others in crawling and walking but we thought this might be due to CMT which we still don't know if he has or not...the hospital has lost his tests twice. Anyway, one weekend, when he was 16 months old,friends, who are special needs teachers, stayed and after their visit they phoned and suggested we should get him tested for Down's. We are infinitely grateful for that call.  After a pediatrician appointment ,she though he had hypotonia not Down's.  She did a blood test and we got the results several months later. Dan has mds with 17% affected cells.  He only has very mild signs which we notice when he is weary. Now at 2.5 he is a lively child who goes to nursery and loves playing with his brother and sister. He gets some speech therapy and is having an operation for glue ear soon. At the moment his biggest delay is speech, only really saying two words at a time. We are hoping he will go to our little village school and hopefully do as well as possible. Finding out about Danny was a big shock, which we are still getting used to, but we will do our best to support him in the future. It really helped us to find this website and read other people's stories.          Back to Personal Stories page

Mangili
North Attleboro, MA
ABFswim@aol.com
Story submitted: November 1, 1999

Matthew Paul Mangili was born on August 3, 1998 about 4 weeks prior to his due date. He weighed in at 6lbs, 0 ounces and the doctors said he was perfectly healthy and we took him home 48 hours later. He was absolutely precious!! And although Matthew had some trouble breast feeding the first few weeks, he gained a lot of weight in the next few months, thanks to the formula he was eating. For the next several months, Matthew put on weight and grew as all mainstream babies do. His checkups were always great, and other than an ear infection and respiratory infection, he was otherwise perfectly "normal" and healthy.

At his 11 month checkup, our pediatrician said he was concerned with Matthew's development. We were very shocked and confused by his comments at first. But at the time, Matthew was not crawling or standing up yet. We thought he was just lazy! Two weeks later, Matthew went back to have his ears checked again and the doctor thought he was doing just fine. We were temporarily relieved. So the next few months we watched him closely and saw nothing out of the ordinary, and actually the more time we spent with him, the more he would do developmentally. He was growing into a little boy that was always smiling and perfectly happy playing or eating!

Just before his 14 month checkup, Matthew developed another bad ear infection. And at this point, we knew it was affecting his hearing as well as his speech. We got his ear infection cleared up and had to take him back two weeks later for his three month checkup. My wife, Jane, took Matthew on that Friday and the phone call I got from her changed our lives forever! She told me that the doctor wanted Matthew to have a chromosome analysis because he thought Matthew might have Down Syndrome. My wife and I both broke down in tears.

My first reaction was "How can that be...the doctor has seen Matthew for 14 months and there never was a hint or inclining that he could or may have DS. Why now?!?". He said that each time he saw Matthew, he saw some facial characteristics of DS. But, as he explained, Matthew did NOT have a crease across the palm, or small mouth, or extra fold under the eye or the large space between the toes. What he did see was that Matthew had a slightly flat back of the head (but Jane's father has the same shape and he's a Harvard grad in Biology!), and slightly smaller ears. More noticeably was Matthew's development: he was not walking or crawling yet. And as he explained that even though he was still in the normal range, it was getting close to the later part of the norm.

We both went online and began our search for information on Down Syndrome and what it meant and what the characteristics were and such. However, most of all we read convinced us that he was not a child with DS. We went home that night, looked at pictures and saw nothing that indicated DS, but a smiling and otherwise perfectly happy baby!! He loved to have his picture taken, cause he is such a ham - just like his Daddy!!

And as if Matthew knew what was going on, the very next day he crawled for the very first time!! We were so excited! But that wasn't all...he also, on the same day, started to feed food to himself!! It was like he had held out all that time and then decided to blossom! In the meantime, we had to take Matthew for the blood test and wait two weeks for the results - results we would get on October 26th, 1999.

We decided not to tell anyone except for our bosses at work, because we knew we may need some time off if it was positive. In a nutshell, the next two weeks were simply unbelievable...Matthew started crawling, pulling himself up to a standing position, feeding himself and as his ears cleared up, responding to our questions!

One week later, my father died suddenly. It was awful...everything happening that whole week was like a bad dream. I never did tell him about the test and but somehow I think he knew! Even though the events of that week took our minds off the test results, it quickly came to a reality on Tuesday, October 26th. The doctor told us that Matthew had mosaic down syndrome. He was 30% affected and that time would only tell what things would be a challenge for him. We now know why he has some trouble with his walking and with his speech. So we are trying to find out all we can and to hear from people with similar stories so we can learn how to give our son the absolute BEST of everything! Because that's what he deserves and that's what he is going to get!

Matthew is our first. We aren't sure if we should have another baby, but if we do, we hoped to be as blessed as we have been by Matthew!! He gives us joy as no one else can, either by his laughter, his smile or even the way he sleeps. The unknown is the biggest challenge to overcome right now, but the love we share with him will get us through anything God has in store for Matthew!     Back to Personal Stories Page

Hello!  My name is Barb and I would like to tell you the story of the birth of my little miracle Jonas Robert Martz. Jonas was born on 11/01/00, just one week after my 36th birthday. On the night of Halloween, I had taken my 5 y.o. son trick or treating and had gotten him home and in bed. I began to think that I had not felt my unborn baby moving much that day and decided to sit down and pay close attention to how many movements I felt in an hour's time. Jonas had been a very active baby, so it was odd that he was not kicking all around as usual. After 6 hours of concentrating on little else, I had not felt a single movement. It was 3:00a.m. and I could not get any peace about this inactivity. I woke my husband Bob and told him I was going to go to our nearby hospital to be put on a fetal monitor just to reassure myself. He wanted to go with me but I insisted that we not wake up our 5y.o. and scare him. I thought I was being paranoid and that I would be home in a matter of an hour or two.

Once I was at the hospital, they were unhappy with the baby's low heart rate which was hovering around 90. Bob came in to the hospital and a doppler ultrasound was done. This showed that I had a blood clot in one of the arteries in the umbilical cord. Soon I was being rushed to Western PA Hospital. in Pittsburgh about 60 miles away in an ambulance. We were told by the high risk OB-GYN that the baby's life was in grave danger because the blood clot was leading right to the baby's aorta, so an emergency c-section was performed post haste. Jonas was born 7 weeks premature and weighed 4lb.5oz. and was able to breathe on his own at birth. He went to the NICU for preemie care, but was just perfect. The doctors said that Jonas was a real living breathing miracle, and that they had never caught that problem of a thrombus in the umbilical cord in time to save the baby's life. The doctors and nurses told me that I was a "hero" for saving my baby, and wanted to know what made me go in to the hospital. I am no hero, I prayed to God to for my unborn baby everyday of my pregnancy and so when He spoke to my heart that there was something not right I had to listen. To God be all the glory for this miracle!

For the first ten days of Jonas' life we marveled at how perfect he was. We thought we had really beat the odds. On that tenth day my husband returned to work on a 12 hour shift and my Mom took me to Pittsburgh (one hour from home) to see my doctor for staple removal and also to visit Jonas. The daily trips had taken their toll on the healing process following surgery, but I could no sooner stay away than chop off my arm. A nurse came in that day while we were with Jonas and casually told me that a cardiologist was going to see Jonas that evening after his office hours to be sure that the blood clot had not caused any problem like an abdominal aortic aneurysm or anything. "Just to be sure".

I was in considerable misery that day and decided to go home and call back down to the NICU and speak to a doctor about the results in the evening. I had about a 9 hour wait to be there when the cardiologist came and I couldn't physically do it. So from home I phoned the hospital about 6p.m. The neonatologist said he wanted to talk to Bob & I both together. Bob was not even home from his 7-7 work shift yet. I told the doctor that I would call back when my husband got home. Bob and I decided to have a conference call with the doctor instead of going back to Pittsburgh that night. The doctor first told us that Jonas has Atrioventricular Septal Defect (A-V Canal Defect) of his heart. This is when there is a hole between the upper chambers of the heart and a second one between the bottom two chambers of the heart. Then the doctor told us that the finding of this specific heart defect confirmed something they had only suspected for a few days, that our son had Down's Syndrome! Wow!  We were floored. How could ten days pass without us even suspecting a thing? How could such a diagnosis take the doctors so long to come up with? It didn't make sense, but we believed the doctor knew what he was saying or he wouldn't be saying it. I told Bob as I hung up the phone, "God wants this dear boy here for sure or he would not have even made it this far."

Then we broke the news to our big family and best friends and then went to sleep crying. I woke in the morning with tears running down my face. I never knew before that you can cry in your sleep. When I got up and got ready to go see Jonas I began to feel such a need to be with my son. When we arrived in the NICU there were the doctors waiting for us and an angel nurse named Sandra H. in Pod #3 where Jonas was, waiting to offer us hugs and caring. All I could still think about was getting scrubbed in and getting my arms around my child. As soon as I had Jonas in my arms all the things I had spent the night crying about melted away like wet cotton candy. He still was the same perfect child I had been loving for 10 days, he still was a blessing in our lives, and I still loved him so much that it hurt. We were surrounded by family and friends who also drew strength from seeing Jonas and remembering what a real blessing he is. On our way home that evening, my quiet and loving husband said to me, "I get so much peace just holding Jonas, everything is going to be fine". I have never felt hopeless or questioned Why? since that moment.

It was three more days until we had the testing back to confirm without a doubt that he had Trisomy 21. When the doctor told us that the tests did reveal Trisomy 21, but the rare form known as Mosaic Down's Syndrome, we felt like we had more hope than we had for days. It also explained alot about why it was so difficult to tell that Jonas had it. The physical traits of D.S. that he has are the creases on his hands, and a slightly larger than normal space between his big toes and his other toes on each foot. His right ear is slightly flapped, but the left one is normal. The doctor told us that it was possible that Jonas could be as high functioning as a normal child or that he could have as much impairment as a child with 100% Down's Syndrome. Jonas has 30% affected cells and we know that one area that has been really affected is his heart. Like everyone else who has a child with MDS, we have to wait to see what other things we may have to deal with as time passes. So far, Jonas has really exceptional muscle tone, is very alert and aware of his surroundings. Our pediatrician says that if he did not know Jonas has MDS, he would never suspect it. Right now we are trying to keep him away from winter illnesses and loving him day by day. He weighs slightly over 7 lbs. at 3 1/2 months old. He has been enrolled in the Early Intervention and Infant Stimulation programs. They come to the house each month to evaluate Jonas and give us helpful information about what we can be doing with him.

The heart problem is our greatest worry at this time. The cardiologist has told us that there is no physical possibility of these holes closing without surgery. This has not stopped us from praying for a miracle, because we know God can do things outside the physical realm. Right now Jonas' heart is strong and he does not require any medication to fight off congestive heart failure. We expect the open heart surgery to take place between 6-12 months of age. I try not to think about the heart surgery too much. I don't know how you hand your precious one over to the doctors for that operation!

I had all the tests offered to me during my pregnancy such as the triple test, amnio, CVS, etc. and I refused them all. I am very glad in retrospect that I did not know about Jonas' problems ahead of time. I would not have even considered killing my child, and the worry would have been terrible. I know we would have imagined things to be so much worse than they have turned out to be. I also treasure those first ten days of his life when I fell hopelessly in love with him without my feelings being mixed up with thoughts of D.S. and heart deformities. It is not that I love him less now that I know, but I have to admit that there has never been a day when I forgot about it completely since we were told. But it helps me to let my mind wander back to the days before the diagnosis once in awhile.

Bob and I talked about the name "Jonas" as a possibility for a couple of months before Jonas was born. We chose the name after Dr. Jonas Salk creator of the first polio vaccine. When Jonas came almost 2 months early we still hadn't decided, but after his emergency entrance into the world, it seemed really appropriate to name him after a man who saved so many children.

We are also the proud parents of a 5 1/2 year old Kindergartner named Walker. He is a whole different story!  He is reading and comprehending fully at a 5th grade 4th month level.  God bless each and every one of you, and your little miracles!
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Meeter
Portage, IN
d-meeter@uchicago.edu
Story submitted:  November 4, 1999

Hi -- my name is Deborah. I'm 41 years old, and am the proud mommy of Logan (age 2), and Shane (age 4 months).  Shane was diagosed with MDS 6 days after he was born. I had no special testing while I was pregnant.  I knew my age would affect the test results anyway, and the outcome of the test wouldn't have any affect on whether we would continue the pregnancy.

Shane was born at 2:59 a.m. after a rather short labor (got to the hospital at 2:15 am!!). He was a pound bigger  than my first child, but other than that I didn't see anything out of the ordinary about him. He just looked like a chubbier baby. I did notice that he wasn't crying as much or as loud as my first, but when I asked, the nurses just said that some baby's do more of that than others. Later I found out that both my doctor and the nurses suspected Shane might have Downs when they saw him, but couldn't say anything at that point.

Two hours later, a nurse comes into my room and says she has something to tell us about our baby and quote, "it isn't good". That statement alone has a very panicking affect on new parents!! She then proceeded to tell us that  some doctors have looked at Shane, and he's showing some characteristics of Down Syndrome. That was so   incredibly devastating to hear. She then proceeded to tell us different things that are possible with Downs, including severe heart problems and webbed fingers and toes! I was so upset by this point and with not knowing  anything about Downs, I asked her "my baby isn't going to die, is he?". Her response to that was that the hospital pediatricin would be in later to talk to us. Luckily, the doctor came in to see us within about 45 minutes. He told us that Shane was showing some very subtle characteristics of Downs, so they were doing some testing on him.  His thyroid level was off, and since that can also give some characteristics of Downs, they were looking at that possibility too. When they brought Shane to me, the first thing I did was pull his hands/feet out of the blanket to look. NO WEBBING (which I came to find out later might occur only in the most extreme cases). The nurse had seen our baby -- I don't know why she had to tell us about characteristics that our baby didn't have -- it just scared and upset us! I think a doctor should have been the one to tell us the news, so that our questions could have been answered right away. There was no health problem with Shane, and he was able to come home with us when I was discharged.

We received confirmation from the geneticist the following week that Shane definitely has MDS.  She said he's extra special -- not only did he not miscarry (which I guess can happen in 50% of cases), but he's got this rare  form of Downs. He has NO heart problems, and his eye and hearing tests have come back normal. He's a very  healthy little boy. We have a developmental and physical therapist coming to our home each week since he was 3 weeks old, and they are very pleased with his progress.

Shane is a wonderful little boy. He's our precious gift from God, and even though we don't feel adequate, we feel  that God has a purpose for us in this, and this is exactly the little one he wants us to have.  I feel overwhelmed sometimes when reading about what we might experience with Downs, but we've put us and Shane in the Lord's hands, and know that he will guide us through.

Thank you for your time in reading this, and I look forward of learning more about MDS from all of you.