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Agostini My precious ANGEL was born 11 years ago. His name is Gabriel David but we call him Gaby. He lives with me (mom), his 21-month-old sister, and his grandparents. Gaby is a very handsome young man that loves to play PlayStation games, use his CD ROM's on my computer, and watch TV. He is a very talented dancer and his favorite musical group is Backstreet Boys. He also think he is Ricky Martin. He loves his sister so much that he gave me thanks for having her when she was born. He enjoys life in general but not going to school. He doesn't know how to write or read yet because it is not part of his interest right now. He goes to special setting in a public local school and he is starting to learn some English words. He is entering to puberty at this age and suffering these physical and emotional changes which I don't know how to handle yet. If any of you are going through the same situation, please contact me. Having a son with mds has been a very challenging and rewarding experience to me. I am
glad to have found a group of parents in a similar situation. I am here to share
with you all you need to ask me and wish to find answers to my questions.
Alvarez Story submitted: January 20, 2010 My beautiful granddaughter was born seven weeks early and appeared very healthy. Because she was early, she was transported to a neonatal facility for care. While in the hospital she was diagnosed with a heart condition and also tested for downs syndrome. We were so surprised when we were told she has mosaic down syndrome and knew absolutely nothing about it. After about 15 minutes of initial shock, the entire family just looked at each other and said- this changes nothing! God blesses each of us in his own way and she is definitely been our biggest blessing ever. My son and daughter in law immediately hugged each other and stated no tears or sadness - she's perfect the way she is. Kayla is now one year old and an absolute joy! She has had one heart surgery to correct her VSD, ASD and one hole in her heart. She has the all clear and no more surgeries are needed. Nothing brightens my day as much as when Kayla is at the house when I come home. She smiles and starts chatting like she's got a lot to tell me about. She's trying to walk now and wants to be constantly on the move. I think I'm about to remember what it was like to chase toddlers around the house.... Back to the Personal Stories page Anderson
Jordan, so far, is doing really well. She rolled over for the first time 2 day ago. All 3 of us where laying on the floor watching her. She was flinging her legs in the air, and next thing you know she was over, resting on her forearms, head up looking at us. When I found out that she had mds, I was in the field, and I promised myself that I would treat her just the same as I treat her older sister. I still don't know a whole lot about mds, didn't feel the need to find out. Just because she has mds, doesn't change the fact the she's my little angel. Ashley, the bigger sister, was so mad that she wasn't my little angel any more, but now she's the big sister. All grown up, doesn't want help any more, even helps me wash the dishes after dinner now. Well, I guess that's about it for now. I hope to hear from everyone out there. Back to the Personal Stories page Anonymous1 My son Jeffrey was born 3 weeks early. I had a very easy pregnancy, labor and delivery. No signs of any problems. His apgar scores were 8 than 9. About 5 hours after delivery, a neonatologist walked in my room and asked if there were any problems with anybody in our families. At that moment I knew something was seriously wrong. He then informed us that the pediatrician saw some mild features and in 3 weeks I would know. One week later my pediatrician called and asked, "Is this Mrs. X?" I said, "Yes," and he said, "Your baby has downs." I was in complete shock. I was totally ignorant. My son, at this point, has no physical or health concerns. We are going in for an echogram and we are very nervous. Jeffrey is the most incredible child. I know that we will always expect the most and accept the least. I do have Jeffrey on TNI and do plan on putting him on Pricetan. I feel very fortunate to have the opportunity to raise such a wonderful child. Back to the Personal Stories page Barabas My little daughter, Flavia, 2 years old, was diagnosed with MDS.
Here, in Romania, I didn't find books dedicated to this subject (especially for parents). What can I do to get one, to send me one, and where
can I resolve Baslee Emily was born on August 16, 2000 by C- Section.
The next day the doctor came to our room and told us that our baby has sign of
down syndrome and needed our permission to test her. I immediately was
embarrassed for this doctor who was in the wrong room and telling the wrong
people about someone else's poor baby. By the time he left our room I realized
he was not in the wrong place. My husband and I were so scared. It took a week
to get the results back. Mean while we had to take this child home (who looked
perfectly ok to us). When we went to the doctor for her 1 week check up we were
told that she had Mosaic Down Syndrome. 10% of her cells had the DS. We were
assured this was a very good number. We just knew that they would tell us she
was fine, I kept praying that God would show me the lesson in all this and it
would be over soon. Well we took her for all the normal tests for DS heart,
hearing, genetics, etc. All was well. Emily rolled over, crawled and walked all
with in "normal" ranges. She has delayed in speech and potty training. Still
working on both but almost done with the potty. I am sure she will be in speech
therapy for several more years. But she is doing very well. She went to 2
years of Early Childhood Preschool. She just finished her Kindergarten year at a
private Christian school. She kept up with the others in her class for the most
part. She just had her graduation this week. We are so proud!! Emily is very
loving to those she knows well. She has really came out socially in the last 6
months. She loves her music, movies and "boy" toys. We could not love her more.
She is the Biggest blessing we could have ever asked for and never knew we
wanted. Aside from a few impactions Emily has had no serious medical
complications. We just can't wait to see what she will overcome next! Bates I am writing this story in hopes that it will help new parents whose children have just been diagnosed with MDS. When my daughter Jessica was born, I was 21 years old, and my husband and I had been married for almost 3 years. I did not have the AFP screening performed because my mother had asked me, "well what if there is something wrong, would you terminate the pregnancy?" Realizing she was right and how much she knew that I could never do that to My child I said no and opted to not have the testing done. I did have a difficult pregnancy with Jessica. I went into pre-term labor at 6 months and was put on complete bed rest; in and out of the hospital 4 times to stop my labor; and monitored at home for contractions. I feel that it was a blessing in disguise that I didn't know ahead of time about Jessica's down syndrome just because I would have worried all day long, not knowing what to expect. When Jessica was born, I did also have a difficult delivery. She had shoulder dystocia and the doctor said she should have been c-section. Regardless of the difficulty, looking at my beautiful baby girl I fell in love. She was born at 10:53 p.m. and I kept her in my room that night holding her in my arms just marveling over her. The next morning the pediatrician came in and my mother and father were in the room with us he told us he believed Jessica had down syndrome and we would know in about 2 weeks. Looking at me he said " I don't see any tears yet, mom" I was in a state of shock. Thinking back later I got angry at his comment. We had a very bad experience in the hospital and never even got our footprint sheet when we left the hospital. The nurse called us later and we went back to the hospital to match up our bracelets and check her out. They never even showed me how to clean her umbilical cord before I was discharged from the hospital. Being a new mother, I did not know how to do this. We finally got instruction from this nurse and filed a grievance with the hospital. I was told it wasn't because of her down syndrome that we were ignored but because of the day - it was New Year's Eve when we were discharged and they were "understaffed". Anyhow thinking about all this at home I became so angry thinking "if these people are in the medical profession and this is how They treat us how are we going to be treated by society?" I was appalled at the unprofessional, ignorant attitudes. But I think that just made me hold Jessica closer to me and realize early that I have to be her advocate. There was really not much information on MDS. We later were told her kayotype test was negative for DS and then for Jessica's 2 week checkup the doctor listened to her heart and said "she had a heart murmur which is characteristic of a child with down syndrome." Well, I told him how we received news that the test was negative, and he said there was a mistake at the lab, we'll have the test results in the next week. My husband and I were on pins and needles, this was the longest week of my life. My mother had taken a week off work to help me out with the baby, and she called one night asking if I wanted her to come over and help and I just fell apart - started bawling on the phone. I was trying to be so tough that I felt guilty letting anyone help. My husband and I hadn't yet discussed the possibility of what the test might reveal. He told me that he felt angry at God like WHY US?! But then he said something that I KNOW is the truth, he said "Maybe God gave her to us because he knew we would Love her, NO matter what." The pediatrician phoned us at home and informed us, with my husband on one line and I on the extension, that our beautiful baby girl did in fact have Mosaic Downs Syndrome. Jessica had an ASVD and saw the heart specialist every month for
evaluation. She had repair done at 4 months of age and came through it with no problem . She reached all of her milestones right on time and it seemed that the muscle weaknesses that she
had at an early age had disappeared. She is a little fighter. And she is now 7 years old, we've come a long way
and been through a lot. But it has just made me love and appreciate her more. She is in a Learning Handicapped class and is very shy. She still has language delays and some learning obstacles but nothing that I feel we can't work
through - so what if she didn't read in kindergarten? The most important thing is she knows she's loved and the triumphs that other people take for granted are that much greater for us. Please don't let anyone dash your hopes and tell you what your child can and cannot do.... ALL children can learn!!
On 4/26/99 at 1:00 a.m. my water broke. Karlee's due date was 5/12/99.
She decided to come a little early. My husband and I drove straight to the hospital after
he showered! We spent all night and half the next day in labor. When my doctor checked me
at 2:30 p.m. he decided it had been her bottom he had felt earlier instead of her head and
told us she was breach and they would have to do a c-section. So, she was born 4/27/99 at
3:13 p.m. To make a long story short this little girl had many people confused. Although she had some of the facial characteristics of down syndrome, they were very very slight and in fact, she looked quite a bit like her father did when he was first born. Then about 10 minutes later the nursery pediatrician and my OB-GYN doctor came in and said that she did have the characteristics of down syndrome. Well, then they sent the genetics doctor in about 10:00 p.m. that night to discuss chromosomes and to show me a chart of chromosomes. Which I was not in any condition to see! Every physician just didn't seem to give me any hope. One doctor even had the alldasidy to say to me "Well, I know you feel as though you haven't gotten an Olympic athlete or the prom queen!" Well, that just really ticked me off. I am not a selfish person and really didn't feel as though that comment was warranted. How dare anyone tell me what she is or is not going to do! For God's sake give her a break she is just a baby. When we finally got her diagnosis 5 long days later, the genetics doctor told us that most people that have mds don't even know they have it! She also said "When she gets older you and your husband will be saying 'those doctors are crazy'". We were very devastated at first by her diagnosis. I cried for a solid month. Everytime my husband and I looked in the mirror we cried. There were times I even asked myself, "am I crying for her or for me?" Now, 5 months later life is completely different. She has won our hearts over and every person that sees her just falls in love with her. She will probably be on Broadway because she constantly looks at the lights! I think it's a sign they are just calling her name!! (Ha! Ha!) Our lives have been so enlightened by this whole thing. We were devastated at first. I wish we could go back and know then what we know now. One of our main questions was "How mild can down syndrome be?" Well, I can tell you it can be very mild. Our little Karlee is now 5 mos. old and she has hit all her milestones ahead of typical development. She rolled over at 8 weeks old. She moved from one end of her bassinet to the other when she was only 1 week old. And she has been making all the down syndrome books we've read to be out and out lies! Karlee is our only child and we wouldn't change her for anything. She is absolutely beautiful, inside and out. I can't imagine her any other way. I know God gave her to us because she will enrich our lives. We can't wait to wake up everyday and see the world around us through her eyes. I hope that all new parents can put aside the diagnosis and look at your child just as a beautiful little baby! Love it and teach it. After all it is a privilege to have that opportunity. Take advantage of it. I like to flatter myself sometimes and I tell myself that God gave her to me because he new I could teach her and I was so lucky that he picked me and my husband for her! (Just a thought!) Congratulation on the birth of your baby! Anyone is welcome to contact me! Back to Personal Stories Page
I am sure that the next year went like everyone else's, accepting, testing, wondering what I had done wrong. But through all of those things the one thing I remember most was the love in Sam's eyes everytime she looked at me. She loved me unconditionally and I finally realized that I felt the same way about her. I love her no matter what. I don't think anyone ever knows the amount of inner strength that they possess until they are faced with a challenge that they can only accept and never change. My father had always taught me that life is what you make it and you can make it anything you want. What he didn't tell me was how to deal with things that no matter now hard you try, you can't change. That was the hardest lesson for me but with my strong faith in God, there has been no challenge that we have come up against that we have not found a way through it. I believe the God gave me Samantha to teach me patience (I am still learning that one), but also He gave her to me because he has more faith in my husband and I than we have in ourselves. Sam is now 9 years old. I can't say that it has been easy but with God, my husband and family it hasn't been that bad either. One of the best things has been being able to talk with people going through the same situations and feelings as I am. Somehow when you know that you are not alone it makes each step just a little easier. Thanks for allowing me to tell our story. P.S. I know that I have told you a lot about Samantha but I want everyone to know that I also have a wonderful stepson who is 18 years old and an Honors Program student at our local Community College and a 2 year old named Hannah. What more needs to be said than she is "two". Back to Personal Stories Page
Blades
Bond Hi, my name is Gaynor and Igave birth to twins in 1992. Amy has downs and her twin brother has c/p. I was told Amy had Mosaic Downs more or less straight away after birth after a few tests to confirm. Amy has attended mainstream school. nursery etc., but this has not always been successful. Amy has learning and behavioral difficulties, which have gone with her through life so far. She presents with so many difficulties that I am still a single parent and find it even hard to have a relationship. My Father recently died and Amy has felt the loss so much. He was the backbone of our family and Amy's biggest fan. I would welcome e-mail support of any kind. Right now I feel very much alone with a little girl who people find so hard to deal with. Bye for now, Gaynor and Amy Buie Hello, my name is Becky. I am the very lucky person who is blessed with two angels that call me "Mom". I am the mother of Johnathan,
10 years old, and Joey, 13 months (mds). My Johnathan is into baseball. He is the second baseman for the Newcastle Racer's little league team. He wants to be a pitcher, also. My Joey is into EVERYTHING!! We have a difficult time keeping up with him, if you blink - he's getting into something else!!
Burke Our daughter, Ashley, is 13 years old and in 7th grade. I am technically her step-mom, so I don't know all the very earliest details. But, I have been raising her since she was five years old. Ashley lives full-time with her Dad (my husband), her step-sister, two half-sisters, and me. Her step-sister, from my first marriage, is just 5 months older than Ashley. Through the years, it has made for some rather difficult moments (one ready to do things, the other not) and some heart-warming moments (Jennifer educating insensitive kids on the school playground and standing up for Ashley). Having the two girls so close in age, gave us some much-needed perspective at times as well. When I first met Ashley, she was five and I knew something was different. Her communication skills were limited, her speech nearly indistinguishable. She also did not have the same social or motor skills as children her age. She did not understand "appropriate" public behavior and was overly familiar with people who were strangers. It took her father more than a month and many questions from me before he told me Ashley has MDS. It did not come as a surprise to me, based on my interactions with her. But I was surprised at his level of denial and that of his family. It is understandable to want to believe the "mild" diagnosis, but it can also be a terrible disservice to the child if that means early intervention is not sought. Based on the well-meaning words of doctors, my husband clung to the notion that MDS meant Ashley would probably "just be a little slower than other children." He did not want to investigate further, or feel a need for special services since the prognosis seemed so benign. If the doctors had been better informed, they could have provided better information to Kevin. I believe Ashley could have benefited from early stimulation and intervention programs if they had been availed. At any rate, based on the belief that Ashley would just be "a little slower" than other children, she was enrolled in regular kindergarten. Within a month the school asked permission to test her for Special Ed., saying that she was not able to keep up, and was developing behavior problems (probably out of frustration), and was disruptive in the classroom. Her testing showed great delays in all cognitive areas. Her motor skills were also delayed, but not to the same extent. It was decided she would benefit from the Special Ed. classroom. And, she did do a little better there. But it took more than a year for Ashley to accept and follow the rules required at school (even in Special Ed.). As the years have gone by, I have educated myself on Downs and MDS. I have had to fight with teachers and schools to advocate for Ashley's educational needs. My experience has been many "educators" prefer to pass a child on through the system than to actually educate her. This has infuriated me at times, but through persistence we have been able to get better-suited programs for Ashley. If I can offer one piece of advice here, it is find an ally within the school district who will listen and help you fight the battles. I was fortunate to find such a person and it made a huge difference for Ashley. Like all special needs parents, we have asked teachers what they saw for Ashley's future. The answer was usually the same, "no one really has a crystal ball." We have always asked for Ashley's instruction to be practical, hands-on. Our goal is for Ashley to achieve the maximum level of independence she can. And, it's been our experience, despite the IEP (Individual Education Plan) process mandated by federal law, many Special Ed. teachers still don't want (or have too many students) to follow through with the custom-tailored programs designed for each Special Ed. student. But if you insist on what you think best serves your child, it is possible to get services. Remember, the squeaky wheel theory! Ashley is very socially out-going and enjoys school. She has done quite well learning to read, she can decipher at the 3rd/4th grade level (although her comprehension is more like K/1st grade). She can do simple arithmetic (adding and subtracting double digits, even with some re-grouping). Her areas of greatest challenge have been understanding time and money. She really struggles with that a lot. It just doesn't make sense to her. The situation with siblings has been interesting. Ashley's step-sister, Jennifer is five months older. When they were younger they played together. But by the time they were nine, they had little in common (interest-wise) and their playing usually consisted of Jennifer as teacher and Ashley as student. Then, their half-sister, Amanda was born. Ashley learned to help with simple things and as Amanda grew they became good friends and playmates. Two years later we had our youngest daughter, Brandyn. The girls are now ages 13,13,4,2. Ashley plays with her younger sisters, and enjoys reading them stories. We sometimes see Ashley's frustration, when Amanda (4) can answer Ashley's homework questions. We try to politely remind Amanda that it is Ashley's homework, and to let Ashley do it. But, as Amanda and Brandyn get older they will surpass Ashley in many areas. Dealing with that, teaching the younger ones to be gracious and caring, and helping Ashley to not feel bad are challenges we know we must face. But, it does make us a little sad at the same time. Kevin has come to terms with Ashley's situation, and we are both realists. Over the last 2-3 years we have noticed her progress has slowed tremendously. Her teachers and we feel that she has probably reached her final plateau (as often happens around age 12) as far as depth of understanding of the world. So now, we are far more focused on getting Ashley the life skills she will need to be independent. She actually seems to prefer it too. I suspect it is less frustrating and she can see the results of her learning (i.e.: baking cookies). Ashley is very task oriented, a solely linear thinker and prefers high repetition. The repetition offers her a comfort level - knowing she knows how to do something and being able to consistently succeed at doing it. Although many MDS children present with milder symptoms than regular Downs, each child is different. Do not let hopefulness get in the way of providing every opportunity to your child. Ashley is a prime example of an MDS child who physically shows little evidence of Downs, yet has significant cognitive deficiencies. Doctors cannot tell from blood tests to what extent a child will be effected. The tendency to want to translate a "milder" appearance into a "milder" effect can be very misleading. It also means others (even professionals) won't understand your child's needs like you do. In Ashley's case she has learned a lot of coping tricks, which make people think she understands them when really she doesn't. She has fooled many professionals, because she can read subtle clues that give away which answer is correct. It doesn't mean she understood, and that can sometimes be dangerous. Always be willing to explain where the deficiencies lie, so others can be sure to effectively communicate with your child. It is every parent's job to prepare their child for adulthood. In the case of MDS children, that is no different. The path getting there may have some different curves, and the adult lifestyle may be different -- but getting there can still be the same miraculous adventure it is with all children. To succeed you must be open and honest with yourself, your child and others. Above all, trust your heart and enjoy yourselves! Back to Personal Stories Page
Canale-Parola
It took me several months to get pregnant, and when I finally did, I was beyond happy. My pregnancy went really well, and I loved every single moment of it. Luca (we already knew it was a boy) was born a couple of weeks before his due date, after an incredibly painful labor that lasted forty hours (no drugs, should I add). Anyway, there he was. The most perfect little angel on Earth. He was a HUGE baby (over nine pounds), and had strong lungs! Breastfeeding was never a problem for him. He was (still is) our miracle. There was only one little thing: he would never looked directly at us. At around four months, we took him to the pediatrician. She was not there, but her nurse was, and she studied Luca for a long time. "This child has low tone. I think you should have him evaluated by the local EI". Low tone? EI? Was she talking a foreign language? Anyway, after a couple of days, there we were, in our living room, with a physical therapist and a social worker, all over Luca. The diagnosis was low tone, and they tried to explain that it is a neurological problem, but that it is not a "big deal". They thought that he was not looking at us because of his low tone (I don't remember how they convinced us of that, but they did). Luca was going to start meeting the physical therapist once a week. We were mildly disturbed at that point. After long research we felt that low tone was not a big deal, after all. At nine months, Luca was re-evaluated, and that day the world fell in front of our feet, and broke in many pieces. The result of that horrible evaluation was that Luca (who was not looking at us, was not crawling, sitting, moving, noticing people or objects) needed to be seen by a neurologist. And so we went to the local Hospital for an EEG, that came back irregular. It showed that Luca had frequent seizure activity. Never a seizure, but maybe the not looking and the low tone were result of absance seizures. We put him on evil Phenobarbital for one year, and that caused his low tone to be even lower, and his low motivation to be interested in the world even lower. They were thinking of a brain tumor, of a malformation of the brain, of a metabolic disorder... We did more tests than anyone can imagine. And, among them (I did not even know), a chromosomal test. It was a beautiful Friday afternoon, in colorful New England, when the phone rang. Luca was, by then, crawling and, with a lot of therapy, making slow but sure progress. I answered the phone. It was his pediatrician. "The result of the chromosomal test came back. Luca has "partial Down Syndrome". I don't really know what it means, but look it up on the net. Bye". I don't need to describe what that felt like. I'm sure you are all familiar with the sense of numbness and the total lack of words, thoughts, images. It was a moment that I'll never forget. I remember staring at Luca and thinking that I had, all of a sudden, a child with Down Syndrome. When I remembered to breathe, I called Dan at work and asked him to come home to hug me. Which he did. We were organizing the party for his first birthday. The Net did NOT give us any answer, but we did a lot of research. Luca's form of Down Syndrome is very rare, it is called Mosaic Translocation 21Q21Q. Luca does not have any facial characteristics of Down Syndrome, which is good and bad at the same time (a lot of people ask a lot of stupid questions!), and has been diagnosed with a form of autism called PDD (although not all his doctors agree with the diagnosis). He has had two operations: one to close his PDA (heart-related stuff), and one to bring down his left testicle, that was stuck under a kidney. He is and always will be the very joy of my heart. I thank God or whoever, that we were touched by such a miracle. Everyday is the hardest day in the world. Everyday I learn something more about altruism, acceptance, and love. Sheer, pure love. Back to Personal Stories Page Chandler My name is Debbie and I have Mosaic Down Syndrome. I am thirty nine and live with my parents in Texas. I stumbled over this web site when I was out visiting with my Aunt in California. I always felt alone having Mosaic Down Syndrome because I never knew anyone else who had it. I was tested at the Children's Hospital in Houston when I was but a toddler. My mother noticed how slow I was developing and started on her search of what was wrong. I guess I was three or so when I was diagnosed at the Children's Hospital. My difficulties were in math, grammar and I had a speech problem. I couldn't say my Ra's. I worked very hard to get rid of this problem since I was often ridiculed on the playground. I was and am a very sensitive person to my environment. My Special Education teachers were compassionate and kind. I learned to love stories and writing. I feel my strengths are reading and writing. Math is a problem. I would say I am at third grade level or so in this area. My parents always had faith in me and never gave up. I remember my mother trying for hours to teach me how to tie my shoes. I must admit, I thought I'd never get the hang of it! I can proudly say I can tie my shoes with my eyes closed! Middle School was hard as was High School but my parents and teachers prevailed. I graduated with my class in 1980. At the present I am not working due to some health problems. I do have two volunteer jobs that I enjoy very much. I continue to educate myself on whatever I am interested in. I love poetry and read Yeats and have read Robert Frost. I consider my self truly blessed. I see myself as an intelligent, growing adult who wants to be a part of life. I have a wonderful family. Thank you for this web site. Update to Debbie's Story submitted on October 5, 2001 My name is Debbie and my story is in the personal stories but my e-mail changed. Let's see what I can tell you of me. I am a forty year old woman who has Mosaic Down syndrome. I live with my parents here in
Amarillo, Texas. I don't know the number of my cells but I can tell you I was tested at the Children's Hospital in Houston.
Unfortunately the doctors didn't tell my parents the numbers. I was told that all the doctors and researchers sat down with me and played with me. Cherry My name is Candi and my child was diagnosed with DS when I was 3 1/2 months pregnant. They said they are 100% sure he has it. I am 20 years old and this is my first child. The father of the baby has been there going through this whole thing with me. He is 22 years old and this is his first child too. We are so scared, excited, confused and a little discouraged at the same time. I went to the heart doctor and they said his heart is perfectly normal! I cried my heart out with joy. I am now 8 months pregnant and I am due September 8, 2006. The doctor said he is 31/2 pds. Is that small for being 8 months? If so is it because he has DS? If anyone can give me any helpful information on DS or their personal experiences, please e-mail me. Back to Personal Stories Page Christensen My name is Jennifer. I am an adult who has MDS. I never knew I had it until age 19. I had gotten pregnant and my Mother was concerned for me and that's why she finally told me. I'm not like others. I appear normal, I have a decent IQ but I have some physicalities of MDS. Since my heart is small, the whole left side of my body is smaller. When I get sick, 'I get sick'. I suffered from depression for years. I am often wondering about health. I am overweight, but I'm losing as well. I often wonder what the life expectancy is for someone who has MDS. I've always questioned if there was anyone else like me who appears normal but has MDS qualities. I feel different from everybody else. I feel limited to some things I just can't seem to do. I have to watch what I do because of my small heart. My mom is always so scared for me. It scares her that I'm overweight and that my small heart can't take it. I try not to overexert myself too much because of my small heart. I'm glad I finally found this site. Back to Personal Stories Page Colvin
When Tim was 2 1/2 years old he was diagnosed with MDS because of his delay
in speech. At first, I was sad and scared because I didn't know what this meant
for his future. Then, a social worker from the local Early Intervention came to
interview me and she asked me what I expected my son's future to be. I looked
down at him playing on the floor with his older brother, Arron, and I thought
long and hard about that. I told her that I didn't know what any of my
children's futures would be, but I would make sure that whatever they decided to
do in life they both would be the best that they could be! It was then that I
decided that I would treat Tim just like any other child and expect the very
best from him. He has proven that his very best is way above most expectations! Conner Lake Arthur, LA DevBay2@yahoo.com Story submitted: December 2, 1999 Hi my name is Brandi. At 19 years of age, I gave birth to a brown-haired, blue-eyed beauty. Birthing was difficult, but the end results were indescribable. After having held her for minute or two, the doctors whisked her away. Twenty minutes later, with a roomful of family members (my husband was telling other family members that she had been born, so he wasn't present for the news.), the doctor came back and told me that it looked like my child had Down Syndrome. He also told me she had webbed toes. I was so shaken by the thought of my daughter having webbed toes, that the Down Syndrome part didn't even affect me!! They did the testing, I received the results two weeks later. Bailey had 60% Mosaic Down Syndrome. I was not prepared, although I knew she had it. My pediatrician put it the best way for me to deal with it. He said, "Brandi, this child is very special, and no matter what doubts you have, God has chosen you for this AWESOME child!" Need I say more? Bailey has been behind is some areas, but mainly in speech. Bailey
received early intervention starting at 6 weeks of age. Today, Bailey rides the
"little" yellow bus to school everyday and she loves it. "Mommy,
Bus!!!!" She has been accepted by all of family and friends. She has a great quality
in her, she is sooooo loving. Her younger sister, Devyn has Feverial Seizures, so I have
my hands full. Bailey gets up in the mornings and wakes her sissy so she can kiss her good
bye for the day. She knows when you are hurting, she can sense these things I feel. The
most awesome part about her is that she is so color blind to the things people say about
her to me!! They say things like, I am so sorry, how do you deal with THAT?. Bailey
smiles at them and then gives them a hug. She is such an awesome kid. You know something?
I prayed for her!! I always wanted a "special" child and I have her. (make that
TWO special children!!!!) My husband and I feel so blessed! I am proud of both of my
daughters, and want to see them succeed in all and everything they do! Congratulations on
your baby, and good luck!! Back to Personal
Stories Page
Cope
When I was pregnant with my daughter at the age of 39, I knew the risks of having a child with a disability, and decided against the tests offered to me. My husband and I talked about how we felt about these children, and how we thought we could cope with a child with a disability -- after all, this baby was a product of us both. I had also had seven miscarriages before Verity. However, the shock after being told she had Downs was something else. I was so scared she was going to die. I don't know why I thought she would. In hindsight it was probably because of my past history. The fact she had Downs came second . From the moment she was born we loved her, and as long as she was healthy was all that mattered. Now we cannot imagine life without her. She is a happy, loving child who goes to mainstream school and is doing fine with the extra help she gets at home. She is a blessing not a burden. I am just learning about the net etc, and I am hoping that I will be able to communicate with other mds parents. Even though I keep in touch with the DSA here, I often get the "Oh, you have nothing to worry about" attitude from parents with children with trisomy 21. When Verity was born, I was told there was only one other MDS child in Western Australia, and have been unable to converse with anyone in my own country with a child with mds. I have always vowed to myself that I will help her reach her full potential as much as I can, and the rewards of that attitude have been three fold. She has a family who adores her and will always be there for her, for now that is all that matters, and each day will be a new experience for us all. Back to Personal Stories Page
Dailey
Cody is in preschool. He is very busy. He is about 1 year behind in most
areas, but he is very happy at school and fits in with all the other
"normal" children. Cody is 34 inches tall and weighs about 25 pounds. The
teachers feel his delays are due mostly due to his smallness, except for speech.
Cody also has tubes in both ears and since the tubes have been put in 4 mos.
ago his speech is only about 18 months behind, which is his most serious delay. Davis Hey there. my name is Alison and I have a beautiful little girl named Adeline. Adeline is a blessing in disguise. my husband and I were trying to conceive for months before we found out I was pregnant with Adeline. the pregnancy had a few complications (I had placenta previa) and I had to be on semi bed rest for a month when I was four months along. early in the pregnancy I was told there was a possibility of down syndrome in her. I didn't get any testing done because I'm a firm believer that god plans everything and if it was meant to be then it would be. I was due on may 23 and my water broke on may 10th in the afternoon. after twelve hours of labor (and a very easy labor I may add thankfully) Adeline Raine Davis was born on may 11th(mothers day) at 319am. she weighed 5 lbs 13 oz. she looked healthy and I went to sleep that night thinking she was fine. The night morning a doctor came in and asked why I had went to Morgantown. we stated that we were told the baby could have down's so we had to be monitored. the doctor told me she couldn't tell so she would have to do a chromosome test on her. She ate fine, she didn't really look it facial way but had a few signs (really she is a spitting image of her daddy) it took a few days to come back. when we were first told she had it full on but really really mild. a couple other doctors said the same. then we met with another doctor and he said no it was mosaic down syndrome. (I had never heard of that until I had her). and she wasn't behind in anything and she may never be. Then I seen a genetic counselor who claimed he was wrong and it was full on down syndrome. (she also told me it was ok to cry that I didn't have a perfect child, I didn't have to cry. she was my little girl no matter what). anyway she has a thyroid problem so we went to another specialist. the first thing she said was what kind of downs does she has? Like clockwork I said full on. the doctor said no she doesn't does she has mosaic? I told her I was told that but then was told no. she did another chromosome test on her and it was confirmed to mosaic but we still don't know what percentage... No matter any one tells you and I've dealt with a few snotty doctors she is the best to ever happen to me and I cant imagine my life without nor do I want to. Back to Personal Stories Page del Cid My beautiful daughter Ivonne born 2 months ago, we never suspect anything
before that because everything was ok, all the body measures and heart rate was
ok, nothing related with any genetic problem, the doctor check my wife every
month including sonograms so we are very confident but we always have concerns
because my wife have 41 years old, only when she was born the doctor saw some of
the sings of DS, her eyes and nose, one of her hands has a line, but nothing
else that we can say too much out of place, but it was very sad to us because we
expect a perfect baby, and all of our happiness became in worries and
expectation. We knew all the health problems that she could have, but she have a
good health, she is up to date on the growing table, no flaccid muscles or
hearth condition, no thyroid disease, no big tongue, she is very aware of her
surrounding, but due to her face, we knew that something was not ok, so we check
with the genetic specialist and he confirmed our suspects, my daughter have MDS,
with 20% DS, even the genetic specialist can´t confirm her condition only with
an eye inspection, so we made the blood test. Now that I check on line her
condition and ask the doctors about her health, I have more relief and I start
to enjoy my princess and I am very happy with my little angel, because no matter
what, me and my wife love her very much and we´ll do everything to help her, I
know that only our family´s hard work are going to give her the most normal
life, until now, she is as normal as any child, and we want that her condition
remains low as possible, she is attending at the "neuro-gym" since today, where
she is going to learn to control his body and we are going to stimulate his
brain, all the family loves her very much and that is the most important issue
of all, maybe someday we are going to see our child in college, maybe not, but
that is not important right now, we have to live day by day. Back to Personal Stories Page Drake
I
want tell you a little about my health and how it relates to Danny. I'm also a
cancer survivor, so I had some the same chemo Danny had. The problem now is
this: last October, I had a devastating stroke and it affected the Wernick's
area -- the area processing language. I can't hear, talk. and I write poorly. I
guess you surmise that. Sadly, my condition affects Danny's development. Fortunately,
I have a strong and loving wife, and Danny has the best mother.
Duffy My name is Carla Duffy. I am 29 years old. We live in the mountains of NC. We learned of Maggie's possible diagnosis of Down Syndrome the same day we learned that she was a baby girl. A 2nd level 2 ultrasound at 32 weeks revealed an Atri-ventricular septal defect (AVSD). (I was considered a high risk pregnancy b/c of medication I was taking at the time of conception, so they were looking for possible birth defects, but we were definitely not expecting to find any.) Perhaps, hearing of the possible DS diagnosis along with the AVSD diagnosis, made that possibility pale in comparison. The news was delivered very poorly and I just cried uncontrollably until I finally got outside of the hospital. I was standing there waiting for my husband to pick me up when an incredible peace came over me and I clearly heard the words of "that still small voice within" which I call God, saying "Everything that you have experienced thus far in your life has prepared you for this moment and for the future." I stopped crying and started thinking about how I was going to handle the immediate future. About 2 weeks later, we had an amnio and an echocardiogram at Duke University Medical Center (not the same hospital as previously mentioned). I was hesitant about the amnio and really didn't care about the diagnosis, but everyone else really wanted to know. The experience was pretty awesome as I watched my baby's finger "float up" to the point of incision as the doctor withdrew the needle as if to let us know that she was very aware of what was going on. About another 2 weeks later, we received the diagnosis of Mosaic Down Syndrome over the phone from the genetic counselor who sounded rather sad, but said very little. I cried some more for a few days as I contemplated how this would affect my baby's life and how my own expectations were meaningless. About a week later, I got down to the business of learning everything I could find about DS (nothing to be found on MDS at that time). I told only family and a few close friends at first. Maggie was born after an induced 8 hr. labor at 40 weeks gestation. She was healthy for the first 24 hrs, but then had to go the NICU b/c of respiratory problems. That was very hard. To have to be away from your baby at that critical time is an indescribable experience. She came home about 8 days later and had no problems. At 3 mos., she underwent open heart surgery to correct her AVSD. This was also difficult, but not as hard as the NICU time. I think I was more prepared for this. Maggie is now 3 years old and is a wonderful and beautiful and intelligent child. She has been on TNI since 6 mos. of age and has been very healthy. She has been receiving Early Intervention since 2 mos. of age. Developmentally, she has some delays in all areas, especially speech, but it is hard to say how much b/c she is not a test performer. She is now in preschool and doing great. She is very popular with all of the kids and parents and everyone else who knows her. Without a doubt, Maggie has been the greatest blessing of our life. She has given meaning and fulfillment to my life and taught us more than we could ever teach her. I thank God everyday for letting us be her parents. I welcome anyone (parent or other information seeker) to contact me. The one last thing I would like to say is that MDS/DS is in no way an indication of a child's quality of life. If you've learned about this diagnosis before giving birth and are facing a difficult decision about what to do, look beyond this diagnosis and don't act out of fear. The greatest challenge for our children is not in their extra chromosomes, it is in the ignorance and prejudices of the larger society who think that being different is something to be shunned. Back to Personal Stories Page
Dumais My pregnancy went fairly well, outside of morning sickness, more so than my two sons. From the fourth month onward, I would request an ultrasound but was not considered at risk for anything. Finally, in my eighth month, I asked my doctor how she knew my baby was alright. You see, I never had the tests done in the beginning of my pregnancy, because I felt no need for it. The doctor asked me if I wanted it done, but she said the purpose was to detect chromosomal abnormalities, giving you the choice to abort. Because of my husband's and my religious beliefs, this was totally out of the question. But for some strange reason, in my eighth month, I asked her "How do I know my baby doesn't have something like Down Syndrome?," never suspecting this to be a possibility. She finally agreed to do the test to ease my mind. I had the ultrasound and was thrilled to find I was finally going to have my little girl. They couldn't see the formation of the baby's heart, so they sent us to Boston for clearer pictures. That was December 21, 1998, the day I felt my world crumbling around me. First they found two heart defects-- a complete a/v canal defect AND tetrology of Fallot, a rare combination. The doctor doing the test told us her chances of survival were very slim, and if she survived birth would require immediate surgery, would not breathe on her own, and I couldn't hold her. And on top of all of that, she, with her wonderful compassion (sarcastically), told us, "Oh, and she has a 70% chance of having Down Syndrome. Here I am looking at this beautiful baby's face on the screen, crying for the girl I had wanted for so long, and being told she may never even make it. After a very long and emotional month, Sierra arrived on Jan. 22, 1999, weighing 7lbs. 1oz. The first thing I said was, "She's alive, she's alive!!!" Well let me tell you, even with all the specialists around her, you could see the fight in her eyes. She was going to prove them all wrong! After holding her for a very short time, she was whisked away to the NICU. I became very sick after her birth, from medication that made my blood pressure go down too much. I was not well enough to see her for a few hours, but my husband stayed with her. She breathed on her own, did not need immediate surgery, and conquered her first battle. After 4 days in the NICU, she came to stay with me till we went home two days later. She was signed up for EIP at 9 days of age, and after a very scary few months, underwent her first surgery at 4 months, weighing in at a mere 10 lbs. She was being fed expressed milk. Because of her heart, she didn't have the strength to nurse. Gaining weight was difficult, but she went through a very difficult surgery and after an amazing 6 days, went home. It was the longest month ever (she had been hospitalized 3 times for heart issues). She continues to struggle to eat and grow, but is now a year old, weighs 15 lbs. and is the love of my life. She is a true fighter and refuses to give up. I'm glad we found out about her challenges beforehand. This gave us time to read all we could about the heart and Mosaic Downs. We have concentrated so much on her heart issues that her Downs doesn't seem too significant. She has the desire to please and the drive to try anything, but not the stamina--because of the heart still not being completely functional. But we know, she will achieve a great deal and continue to amaze us and be adored by her big brothers. We are so thankful to God for our family and friends in our congregation, all of which would not be possible to deal with, without them. It's a long, emotional road, but we would do anything for our little miracle! Back to Personal Stories Page Dunston This story is submitted by a neighbor of a family with a child, who has MDS. What an inspiration! Thank you Diana!!! :>) I had a garage sale today, and a father and his three children came into the garage, one was a very small statured young boy. His height and personal looks gave him the look of a child of about 7 or 8. I said, hi to him as he was wearing western clothing and I asked if he was a cowboy. He responded with a yes he was. His younger brother and younger sister laughed and we got to talking. His father and my husband got to talking and he mentioned that R.J. had MDS. I was very shocked to learn that he was 16. He was very sweet and offered to shake my hand and then threw his arms around me and gave me a huge hug, I loved it. I returned the hug and received a big grin from ear to ear. He has had so many medical problems throughout the years and has a mental age of about a 5 yrs. old, I thought personally that he was a little more advanced but, since I'm not qualified to judge, I let it go. I have been reading more about the syndrome and have a better understanding of his problems. But I can tell you that he was 16, articulate, very shy one minute and very outgoing the next. Like his counter parts, he as very loving, hugged his father often as we talked. Was a very pleasant encounter. So I believe that this should be reassuring for some of the parents with children with MDS that they do live a happy life........Diana Back to Personal Stories
Edwards
Alex had been in hospital whilst these diagnoses were being made and, whilst there, she contracted a respiratory infection which caused heart failure, so she had to be ventilated in Intensive Care. She had to be transferred to another hospital away from our home city where she underwent two operations on her heart and made a good recovery. She was in the hospital for a total of two months, over Christmas and New Year, and it is very difficult to put into words what we went through during that time. But she is now back home with us, her Mum and Dad and her two year-old brother, Henry, who loves her very much and is so kind and gentle with her. She is gaining weight and getting so much more responsive, it's lovely to watch. I only just feel as though I have got back in control of my life and that things have settled into some sort of normality, whatever that is with two young children!! We have received so much love, help and support from friends and family, which we have needed greatly. We have also been getting all sorts of medical help. Alex has been referred to a speech therapist to help with her feeding, to a physiotherapist and for Portage. We are looking forward to the challenges that Alex will present us over the coming years and I am sure that, just like any child, she will give us our fair share of frustration, anxiety, joy and happiness. Back to Personal Stories Page Enqvist
Evans When Amber was first born I noticed that something was just not right. She had low muscle tone and did not seem to develop as quickly as her sister Abby did. The doctor's kept assuring us that nothing was wrong and that she was perfectly healthy. As Amber got older we noticed that she had trouble sitting up and her developmental milestones were reached very late. We continued to question her doctor and he assured us that everything was fine. When Amber was three years old she had a vocabulary of 10 words. At this point we began working with the school system in speech and O.T. We had a wonderful teach in a SDD classroom that began to question us about Amber's development and some of her physical features such as her eyes and hands. She suggested that we meet with a new doctor when we talked to her about our concern's not being a issue with Amber's current doctor. The first time we met with Doctor H., he told us right off the bat that he thought Amber had MDS. We talked at length about all the conditions and walked away from the meeting with a referral to a geneticist and the reality that Amber would always be special. We already thought she was but this was a different kind of special than what we expected. Needless to say Amber's test results did come back positive. I can assure you that my family's life has been better for having Amber exactly the way she is. She is starting Kindergarden this fall, takes a tumbling class at a local gym, and even takes horseback riding lessons. I can really say that Amber is a wonderful child and she is the funniest, sweetest, most loveable child that I have ever met. So we did get exactly what we wanted. Back to Personal Stories Page Faust Four years ago I gave birth to twins Daniel and Charlie. Charlie was
born with bladder exstrophy/epispadias. This is a condition where his bladder was on the
outside with a lot of other complications to go with it. My husband and I were so scared.
I had the boys out of town while I was on a business trip in a small town in Tennessee.
Unfortunately, they had never seen this condition and proceeded to tell me that we would
have to possibly change the sex of our baby. Fortunately, we got the boys back to Atlanta
where a specialist there told us not to worry, that we were parents of definitely two
boys. But he did say that Charlie had a very hard road ahead of him. When they were 14 months old, the boys had more testing done at the genetics department (it was about the fourth time), and it was found that Charlie's mds had disappeared. To this day I do not quite understand how. I just got so tired of all the tests I never went back. You could soon tell though that Charlie was definitely ahead. Daniel was
receiving therapy at a doctor's office three times a week without much change, while
Charlie was progressing quite well. Soon our insurance ran out for therapy and I just
didn't know what I was going to do. We did not qualify for any programs because of income.
It was like we were caught right in the middle. We made too much money, yet we did not
make enough to pay a $450-a-week therapy bill. I just turned it over to God. I said to
him, look, you've got to send me some help or poor Daniel is just going to fall through
the cracks! A couple weeks later, I ran into a friend that told me about a school called
Challenged Child. It is a non-profit school for kids ages birth through five with
disabilities and delays. What a God-send! I enrolled Daniel and within two months they had
him walking and talking. Charlie was able to attend with him in the a "friend"
program. They went two days a week for four hours and just blossomed. They told me when I
enrolled him that they didn't work miracles, they just wanted to give these kids a chance
to be the best that they could be. The best advice I learned from the school to give to
other parents was to start working with these kids as soon as possible! UPDATE: Saturday March 6, 2010 I submitted my story back in 2000. I thought I would take a moment to give an update on Daniel! I enrolled Daniel in a private school in K4. I asked the school to give Daniel a chance because the school did not have special ed. We agreed that if he could not keep up I would pull him out. He is now 14 in eighth grade and is doing wonderful! He only missed making honor roll by two points this last quarter! He does not have tutors and definitely "owns" his grades! He plays the guitar and will be in a Christian band starting this spring! Now this did not happen overnight! I really had to work with Daniel in the early years. Bless his heart, he would get so tired and frustrated trying to learn. Some days he just wanted to give up. I just would not let him. "I Can't" became as bad as a "cuss" word in our home! LOL It was also hard because friends and family would tell me that I was being too tough on him. They would all tell me that I was expecting too much and actually get mad a me. I cannot tell you how many times I went to bed wondering that very thing. What if I was expecting too much? Every time I started to have doubts, Daniel would come home with a good grade on a test, so excited, and I would know I was headed in the right direction with him. I am so proud of him. Sometimes Daniel will come to me and say, "Thanks Mom for never giving up on me". Those are the best words I will ever hear! Now Daniel does still have one issue he is dealing with. He still has a hard time with expressive language. I am in the process of trying to find someone that can help us with this. It has not always been easy, but I would not trade Daniel Faust for anything! What a blessing!! By the way, Daniel has a twin brother. This was not a
choice on the drop down list!
Back to Personal Stories Page
Fichera I have to say it took my by surprise. I also didn't know anything about Down Syndrome. I remember thinking that she won't grow up like my other children, that she will never marry and have kids of her own. I was a little bit in shock. A little history, my husband left me when I was six months pregnant with Christine. So most of all her tests and all her early intervention and anything I had do concerning her I did myself. Having her was what saved me from falling apart when he left. I had her to think about and my other two children. Now that she is older I feel alot better about her future. I can see the things she can do. She has just started kindergarten and it is a challange for her. I find that I need to have a lot more patience with her and just take one day at a time. Sometimes this is hard to to. She is my angel and I thank God everyday for her. She had taught me alot and made me look at life and people alot differently. Everyday is a new challange in raising her. I also must mention my older two children, my son Nicky is 11 and just started middle school, and my daughter Danielle is 10 and Christine's helper in school. They attend the same school. My children are a big help with Christine. And I know they are better for having a sister like Christine. Back to Personal Stories Page Force
Matt is now 6 years old. He is in speech therapy this year and progressing at a rapid pace. He is in special ed in the morning and a class for the "at risk" children in the afternoon. Matt is doing so well in the special ed class that we are meeting with his teacher this week to see about getting him into the regular Kindergarten class for part of the morning. Matt loves computers and has learned a great deal from them. He doesn't like the idea of his mom as a teacher. He loves school, plays well with others and loves doing his homework. He is an excellent student. He is expected to be in regular 1st grade next year. This group has been such a blessing. It was created after Matt was born and we had wasted hours searching for information that wasn't there. It is nice to be able to find out how others have dealt with problems in raising a child with special needs and encouraging to discover that others have had the same problems we have. It is also nice to talk to parents of children (or even the children) who are older in order to have an idea what to expect. Matt is truly a Gift of God. We love him dearly. Although he has a heart of gold, he is very strong willed. Even though this is hard on us, we feel it is a gift from God to Matt which will help him deal with life as he grows older. Matt is fortunate to have a big brother who loves to teach and is very patient with him. Every day we thank God for the special gift of Matt. He is definitely a "special" child. Friedenburg Emily was born September 16, 2003. We were
ecstatic. We had the perfect pair (we also have a son who is 3 years older than
Emily). Shortly after she was born, I began to have weird dreams. In these
dreams a doctor is telling me my beautiful baby girl has Down Syndrome. I pushed
these dreams out of my mind after talking to a friend of mine who works with
kids with DS. Updated: March 4, 2008
Emily is now 4 years old and she will be
entering kindergarten in September. (She turns 5 in Sept.) Emily has been
attending ACDS (Association for Children with Down Syndrome) since she turned 3.
She is in a mixed ability class this year. Only 4 children (including Emily) are
affected by DS. The other children have mild learning issues. Emily is now
recognizing all the letters of the alphabet and the numbers 1-31 (in print) She
loves to point out letters and numbers whenever she sees them. As of now, it
looks as if Emily will be in a Collaborative Team Teaching Class (Special Ed and
General Ed in the same class). We are so proud of everything she has
accomplished. She is loved by so many people! She is always happy and as sweet
as candy. Fulcher I “ Barbara” met such a nice couple when I was
on my way back home to North Carolina ( we have been stationed here for almost 1
year and my husband is in Iraq at the present time) and they were on their way
back to Florida and I just happened to drive behind them at the gas station and
noticed that they were from Florida and I noticed that they had a ribbon on
their vehicle in reference to support Down Syndrome and I approached the
gentleman and start talking to him after he told me that he had a son with
Down's and I told him that I also had a son with Down's. They were very nice
people. I believe her name was Kim. |
My name is Linda Beets and
I am a 31 year old mother to a beautiful little girl named Karlee, who just so happens to
have mds. I hope any new parent who reads this can feel better about their child's lives
and know that this diagnosis is not the end of the world. It is not what we Karlee is all
about. She just so happened to have a chromosome test at birth. Can you imagine what chaos
we would all be in if we had a chromosome test at birth? Anyway, I hope you enjoy our
story!
My name is Denise Bell. My daughter Samantha was diagnosed, at
age three, with Mosaic Down Syndrome. Samantha has 16% Down Syndrome cells. I
guess that is the reason that she fooled the doctors for so long. She met/or
exceeded the standards on all her milestones, except for speech. She had, only
slightly, some of the signs of DS. At her three year appointment, the doctor suggested
that we do a Karotype (that was the longest weekend of my life). When the
doctor called, I didn't hear her, only the sound of my own heartbeat getting faster
and faster. I was so afraid that the beautiful little girl I had grown to know and
love was going to die because I thought all DS children had lots of other problems,
heart problems, etc. The only thing I remember about the conversation was the doctor
saying, "Denise, your daughter is very healthy, she is not going to die."
After a couple of hours, I remembered that the doctor mentioned Mosaic DS. What did
that mean? I called her back later to explain what MDS meant but she only said that
sometimes that is milder than regular DS.
Stephanie was my first child, born January 7, 1985 in Iowa. Her father and I were both 21 years old and had not been married very long. My pregnancy with her was really uneventful. The only problem the doctor saw was lack of weight gain on my part and was worried that the baby wasn't growing. After three ultrasounds and a month of non-stress tests, it was determined that she was developing just fine. (The weight problem was a result of a bad marriage.) Signs that Stephanie had any problems didn't appear until I was in full labor. Her heart rate became irregular during delivery, however, after a very short six hour labor, she was delivered at 10:50 a.m., weighing 6 lbs. 3 oz. The doctor came to my room about 6:00 that evening to tell me that he had just examined the baby. Her father had just left the hospital to go home for awhile and so I was alone. He told me that she had signs of DS, he proceeded to tell me what the signs were. I was very unfamiliar with DS and the thought never crossed my mind that there could possibly be anything wrong with her. He told me that a blood test would be run and that we would get the results in about a week. I called my husband immediately and he came back down to the hospital. We then called all our family to tell them the news. He blamed himself and thought God was punishing him for making fun of his cousin who was also DS.
Here is Luca's story.
Tim
began regular school without special education when he was in 1st grade, and
didn't really have too much difficulty keeping up. Sometimes, the lessons went a
little too fast paced, but with determination he was able to keep up. In 3rd
grade Tim stopped speech therapy because his speech was fine by then and he
didn't need extra help any more. When Tim was in 6th grade he wrote his first
short story. The story was so well written that my husband, Glenn, and I both
thought he had copied it out of a book! When Tim was in 7th grade, the school
called me and said, "We can no longer test him for reading" I didn't quite
understand what they were trying to tell me, so they explained that Tim's
reading level was over the state testing standards and they didn't know what to
do with him! 
Hello, my name is Diane.
Hello
all,
We live in Yorkshire, in the North
of England. Our daughter, Alexandra, was born last summer and was diagnosed with a heart
murmur at five weeks old. She was referred to a pediatrician but it took some weeks for us
to get a consultation. In the meantime, she failed to gain weight as she should, although
she never actually lost any weight, and her doctors were very reassuring telling us that
the large majority of heart murmurs were innocent and Alex's did not give grave cause for
concern. It was a surprise to everybody when, at 3 months of age, she was diagnosed with
complete AVSD and, on the basis of this, it was decided to test Alex for Down's Syndrome.
A few days later we received the MDS diagnosis. It was such a shock, so hard to believe.
She was, and still is, such a beautiful baby. Our world was turned completely upside down
but we tried to remain positive. It was so difficult to tell all our family and friends
who had known her for so long and couldn't believe it, having seen her.
Hi,
Carlos and I found out about Matthew's
diagnosis before he was born. We had an amnio, as with our first child, because of my
"advanced" age. I was a little concerned when it took longer than with our first
child to get the results, then, when the doctor called me, as opposed to one of the office
help, which was the case with our first, I KNEW something was wrong. All I remember was
the words "something wrong" and "Mosaic Down Syndrome (a "milder"
form of Down Syndrome)." It seemed to me like she was talking forever, and through my
tears, I wasn't able to comprehend any of it (regardless of the fact I was a nurse). I
called my husband at work (he's a Paramedic and had to be tracked down at one of the local
hospitals). He describes hearing the news as "like a knife through my heart." My
reaction was much the same. It just so happens that he was working with someone who had a
friend whose child had Down Syndrome. After talking to each other, we placed the call. She
was a Godsend...we talked for almost two hours and learned for the first time what
"mosaic" down syndrome was. I remember at that point trying to find
information...wanting to know what to expect...but finding the word "mosaic"
only briefly mentioned in articles which were mostly about down syndrome. Matt was born
February 5, 1995. Although he was early (right at 37 weeks) he was healthy and beautiful.
The Geneticist who evaluated him at birth said that she was unable to tell which of the 12
infants she was to evaluate. He had no physical features. Matt was followed until 15
months and met every milestone at or ahead of schedule. At age 3 we realized that his
speech was not as it should be (he was only saying about 4-5 words) and got him back into
the "Child Find" program. He was placed in the pre-school program and thanks to
Christian Oliva, his teacher, was talking in 5-7 word sentences in a matter of 5 months!