CDO has helped us connect with resources and other parents of children with similar diagnosises. It is a great organization for support.
My grandson Nathan was born with severe chromosome disorders. With the help and support of CDO his parents have found the way to keep him as healthy as possible. He celebrated his 21st birthday last May and we look forward to many more years. The challenges faced are much easier to navigate when shared. Thank you for being!
I am fairly new to CDO having found out this past year my 3 year old daughter has a rare chromosome disorder. I knew from the time she was 4 months old something was “different” about her. Unlike other kids her age, she wasn’t hitting any milestones and would not bear weight on her legs. Fast forward to 13 months old, new doctor(s), therapies etc., we found out through Microarray she has a microdeletion on Chromosome 9 (9q33.1 to be exact). We are still trying to push for further testing to see if maybe she has a rare syndrome but as of now she has Hypotonia, Speech Delay and an Unspecified Muscle Disorder (she struggles with climbing, running and tires out fairly quickly). I am so very glad I ran across CDO and am thankful for the information they provide!
This is the history of the Nogueira's family!
We are from Brazil, more precisely from the city of Porto Velho in the State of Rondônia, located in the Brazilian Amazon region.
Our sweet Ravena Nogueira came from a high risk pregnancy and complications in the umbilical cord, which meant that she was born prematurely at 33 weeks.
Weighing 1 kilo and 180 grams, Ravena came into the world for an emergency cesarean, as it was necessary to interrupt the pregnancy due to the mother's life at risk due to pre-eclampsia. Ravena was rushed to the NEO NATAL UTI, where she stayed for 180 days.
In her first weeks of life, Ravena was diagnosed with congenital heart diseases: Inter-Atrial Communication (IAC) and Interventricular Communication (IVC).
It took 6 months of an intense struggle against time, to keep Ravena alive through medications and cardiac monitoring, until she reached enough weight for heart surgery, but without success. Every day Ravena lost even more weight, even weighing less than the weight she was born to.
The doctors had no idea why, even though she was fed by enteral tube 24 hours without interruption, Ravena was just losing weight and gaining little.
Until she was 6 months old, Ravena's little heart reached the limit of what was bearable, and already in a myocardial effusion, her body could no longer support adjustments in the dosage of medications for the heart. Her only chance was surgery, we rushed Ravenna to the Children and Maternity Hospital of São José do Rio Preto in São Paulo, more than 2,055.17 km away from our house, as there are no cardio hospitals in the northern region of Brazil. -pediatrics.
After nearly 9 hours of surgery, on March 2, 2020 Ravena leaves the operating room straight to the post-surgical UTI, where she spent 15 days in a coma due to post-surgical complications due to acquired pulmonary sepsis.
In the preoperative period of cardiac surgery, in the midst of a battery of tests, Ravena was diagnosed by the geneticist physician through a karyotype test, with Syndrome 49, XXXXX (Pentasomy X).
In the beginning, even though cardiac surgery was a success, we were very scared due to the discovery of this rare syndrome and that doctors and geneticists in Brazil do not know or know anything about it.
So, with the diagnosis in hand, we searched all over the internet and around the world, sending out emails to genetics and research centers around the world.
Until we found the CDO, who welcomed us and helped us with all possible information about Syndrome 49, XXXXX (Pentasomy X), in addition to contacting us with other families from other parts of the world, having daughters with the same syndrome.
We are infinitely grateful to CDO for their help since then, as with this valuable information, we went to the doctors of our sweet Ravena Nogueira, and with that, they may have a way to go to help us take care of her.
Our sweet Raven is now 2 years2 and 1 month old, undergoes therapies to help her development and is the greatest joy of our lives!
We would love to have our Family History published in the next CDO newsletter so that we can help other families with children like this. We even have an INSTAGRAM profile: @meumundinhoravenistico, which we use to help other families with their atypical motherhood.
Richárlisson Nogueira & Alexia Nogueira.
Hearing that your child has a rare genetic anomaly is devastating and terrifying. CDO offered reassurance and specific information to help me understand my daughters situation and let me know I wasn’t alone.
Our daughter is 39 years old and has a rare chromosome disorder. We have received support, information, networking opportunities and helpful information for more than 20 years! They give hope! I have referred numerous families to CDO because of the help they gave our family. Thank you CDO for all you do to make a difference to so many families!
CDO is a unique nonprofit which fills a void in where the medical literature leaves off and where doctors and other medical professionals have little experience. There is no other organization which connects anyone impacted by a genetic disorder to the available medical information, researchers who are investigating that particular chromosome/deletion, parents and family members of others who have similar disorders, and parents/family members whose child might have an entirely different genetic makeup but similarities in needs or challenges. The volunteers dedicate enormous amounts of time and energy to supporting families. There is no other organization which fills this unique-and much needed and appreciated-gap in the available information. From how to handle a child who is behaving inappropriately in public to opportunities to connect with medical studies and research to how to juggle the needs of a child with special needs with the rest of the family and work-there is no better place to get a down-to-earth answer from someone "who has been there". CDO gives hope and practical support when and where it is most needed.
I found CDO when my now 16 yo son was just 2 yo. We've been with them ever since... listening and giving back as a volunteer. I would not have found the resources and connections I needed, when we first found out about his genetic deletion, if I had not Googled and found this community.
CDO has provided and continues to provide support to families when they need it the most. Thank you for all you do!
This organization has allow us to meet other families with kids like our beautiful daughter.
My grandson is going to be 14 this fall. When he was born, we didn't know how long he'd make it with a very rare genetic condition. CDO has been like a best friend since then. They went beyond the call of duty to help me think about covid vaccines and how they'd impact rare kiddoes. Sometimes you just need an organization that gets your particular challenges, and CDO is definitely one I count on.
My special grandson is now 12 years old. Over the years, CDO has been a blessing in our search for understanding, science, treatments, therapies, and just general support. While those first years were the most intense, life still is full of challenges, and CDO, their resources, their suggestions, just their emotional support continues to be invaluable to our sanity as well as our care for our special guy. I especially appreciate how quickly they respond when I reach out.
This nonprofit is a wonderful group of individuals. If I have the need, I know this is a nonprofit I can turn to for information and support. My son and I share a rare chromosome disorder. While we don’t have many complicated health conditions related to the disorder, I confidently trust this nonprofit as a great resource for us if/ when needed.
Without the Chromosome Disorder Organization we wouldn't know much about the multitude of Chromosome disorders out there affecting so many of our children and adults. My child has 17q12 microdeletion. There is not enough research or information out there. That's where the Chromosome Disorder Organization comes in. They research and work hard to get as much information as possible to help us and doctors with diagnosis.
We were able to find answers to questions that the family doctors could not provide. We were able to access other families who had similar kiddos and exchange tips and compassion. We ware able to access the latest research studies pertaining to our child's diagnosis. We can access these services now and get answers quickly without waiting 2-3 months to get into see a specialist.
My daughter has a very rare combination of missing chromosomes. According to the doctors she is the first on record, which has been a bit daunting and at time scary. CDO is a wonderful group that I know I can ask questions and get loads of support. On top of that, the Ask the Doctor function is AMAZING. To be able to ask specific questions about your kid. Woah. If you've had issues with doctors before this is the opposite. They're even bringing amazing virtual content to our community and interviewing authors with amazing stories. It may be a non-profit but it feels more like a community
Great support for families newly diagnosed and for those who received their diagnosis years ago. Friendly and helpful staff. Thank you!!
Always helpful with the latest information and research in the chromosome disorder community.
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Every parent wants the world to be perfect for their child. It's scary when one learns that everything is not perfect and must accept and learn. CDO is there to help support you with information that makes all the difference. Give you hope and help you find others who are facing similar issues. There are so many variations and possible chromosome disorders. Education helps pave the way for future families. We are very fortunate to have CDO.
Me and myb2 daughters have all got the genetic disorder micrpduplication 16p11.2 it affected my youngest the most she has alot of hidden disabilities behavior problems speach n language learning disabilities n developmental delay n ADHD n autism really bad and very repetitive behaviour my older daughter has borderline personality disorder and autism im not showing any signs like they have
CDO is an amazing group that provides information and support to families whose children are diagnosed with chromosome disorders. There is little information and they help fill in any gaps of information.
We recently discovered that our 15 year-old son has a deletion of his 10th chromosome. After searching the internet and coming up with nothing more than some medical case studies that were impossible to read, I stumbled upon the CDO. I filled out a form and in 24 hours, i was given knowledge and support from a wonderful group of parents whose children are going through similar issues.
CDO highly benefits families tasked with extraordinary medical diagnoses like my own through education, awareness and support. In loving memory of Samantha Lauren Martin, 1993 - 2006, Tetrasomy 18p Syndrome.
Excellent nonprofit company with compassionate leadership. Highly recommend!
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CDO was amazing when me daughter received her rare diagnosis. Not only did they provide access to a geneticist to ask questions, but they also supplied us with contact details of other families with similar diagnoses. Reaching out to other families has been the only way we can find out more about our daughter's condition.
It is an absolutely crucial service that they provide.
We are in Australia and there is no charity or government service that does this. But location is not a boundary for CDO. So grateful.
CDO is a wonderful resource for new parents who have a child with a chromosome or other disorder and for parents who have older children who are needing support. For us, it has been comforting to read about others experiences in raising their children, to know we are not alone. CDO is a great networking organization and an important vehicle to raise awareness about Chromosome disorders
Exceedingly helpful information for individuals with quite rare genetic diseases and their parents. The ability to connect with other families from around the world to lend support and answer medical questions is invaluable.
When my son, Max was diagnosed with a rare chromosome disorder at age 11, I had no idea what to do or where to turn. He was the only one in the entire USA and 10th in the world with his exact deletion. I was frozen in fear and uncertainty. I searched the internet for something, anything to help. I found CDO and was so excited. So many families dealing with different diagnoses, all rare. A year after my son's diagnosis, I received a call from a mom whose son was just diagnosed at age 3 with the same exact diagnosis as my son. CDO has a referral program. Without CDO, I would still be lost!! I wanted to help other families navigate through the special needs journey and started volunteering and then became a board member. This organization is incredible and I am happy to he apart of CDO!
When my son was diagnosed at age 11, we were told that he was the only known case in the US and 10th in the world. They didn't know much about the disorder and were studying the 6th Chromosome at Children's Hospital of Philadelphia, PA. We were so glad that we got a diagnosis, but we still scared of the unknown. He was hospitilized for a week after being diagnosed and we found out about several medical problems that we wouldn't have known. Things slowly got back to the way they were. I found CDO shrotly after he was diagnosed and was a parent contact for 6q and New Jersey. About a year later, I got a call from a mom who just got a 6q deletion diagnosis for her son and it was the exact same deletion as my son!! I was so happy to finally find someone that got it. I met several moms from NJ and have met them. I also found 3 other moms thru CDO who have boys with the same diagnosis as my son and have chatted with them. I was fortunate to get to meet 2 of them on a 6q mom's respite weekend. Without CDO, I would have no been connected to any of these families. Having children with rare chromosomal disorders is very diffivcult. Many times these kids never recieve a diagnosis and when they do, these disorders are misunderstood. Being a member of this organization gives you a sense of belonging. Offers great support, great resources and an extended family who are there for you. Thanks you CDO for all you do!
so helpful!! CDO really helped me feel less alone when my daughter was diagnosed. networking with other parents was invaluable to me at that time when I felt so lost
CDO helped me so much when my son was little. Ive been part of the listserve and now Facebook page for many years. It was such a comfort to learn that I WAS NOT ALONE. Although my Geneticist didnt know there were others with a similar deletion, i found a whole group at CDO! My son is now 31. Thank you, CDO
Chromosome Disorder Outreach is the only place in the United Stares that helps you find your community, when your community is less than 10 other families affected by a disorder no one else has heard of. So grateful for this organization helping connect people who feel so isolated otherwise.
Our 20 month old son was diagnosed at 16 months with 47, XYY after so many delays and traits that showed up as something was not right. He is still undergoing genetic testing while I searched for any online information on the chromosome disorder that was updated (many online studies about it are from 10+ years ago and are very negative). I registered him on the CDO website and immediately received an email from them. They are very helpful and offered 20+ articles on XYY. I hope to help in some way, other families with XYY boys who may not know much about the disorder or may not know what to expect.
When our son was diagnosed with a rare chromosome disorder, finding any information was so difficult and daunting. I found CDO through a friend who’d told me about them and I’m so happy I did. I’ve learned so much more than I could possibly imagine, have made beautiful friendships by people we’ve connected through their Facebook group and will be forever thankful that there’s nonprofits like them that are able to help parents and families while they struggle to adapt to their changing lives with a chromo cutie.
When we were finally given the diagnosis before my daughter's birth of a rare chromosome abnormality, we immediately started searching the internet for information. This was the first information we found. Just knowing we we're not alone was a big support for us. It's great being able to read about other parents challenges, updates, and support. Thank you.
They are such a wonderful connection to so many Rare families!
After my grandson's birth, we were sent to a major children's hospital to the geneticist. He was diagnosed with a rare X-linked chromosome abnormality. They gave me what little information that they had on it. During the course of the next year, I came upon Chromosome Disorder Outreach. I ask for information and they immediately sent me all they had on it along with parents of children with the same disorder. More importantly, I have connected with parents of other disorders who share their ideas, friendship and support. They do not charge for this at all. This infomation and support has been invaluable. LATER, my daughter and granddaughter was diagnosed with the same disorder. CDO also notifies us of any new research and findings. Thank you, CDO!
CDO provides great resources (Ask the doctor database, genetic/medical glossaries, news and chromosome specific information) and a way to connect those navigating chromosome disorders. I'm very happy I found this organization!
Hearing that your child has any disorder can be difficult, but when you hear that they don’t know what this means for your child can be scary. This agency s not only found information ha our doctors did not, but helped me find others with similar situations. Thankful we found them!
When my son was finally diagnosed back in the 90's this organization was pivotal in helping alleviate the fear of having a child with a rare Chromosome disorder. I am eternally grateful to the organizers and volunteers who do the work. This organization has helped an untold amount of families throughout the years.
Very helpful with my daughters chromosome disorder! The support from this online community is wonderful and let’s you know you’re not alone.
I reached out to this organization as my daughter was recently diagnosed with a deletion and duplication of the chromosome 20. Darlene was extremely helpful and fast at getting me information regarding my daughter's diagnosis. After contacting the geneticist working with the organization they were able to find a few cases in which were similar along with one that was very close to that of my daughter's. It helped a lot as my daughter's geneticist could not provide me this much information to look at. It made me feel less alone and have more resolve regarding her diagnosis. I appreciate them offering invaluable information to parents such as myself simply looking for answers.
I have just had the results of my 15 year old daughter's genetic testing come back last Monday. It was frustrating since she had genetic testing done as a toddler and it didn't come back with anything concrete until now. It is duplication of 8q12.1 - 8q21.12.
Pending our appointment with the pediatrician, he rang to give us some details about the results so I can study it before the appointment. I was expecting the research to take months, but once i stumbled into CDO, it was surprisingly quick. Within a day, I got a reply, some information and offer of help from a doctor to answer any question. All from a very caring lady.
Thank you so much for the help. I feel like my daughter and our family finally belong somewhere.
Great organization that has helped me feel less alone!!
14 years ago my son was born with an unbalanced translocation. Know one was able to tell me anything about life expectancy, quality of life, etc. The Drs. were stumped as well. Thankfully I came across CDO and they showed me that I wasn't alone. My child may not have the same chromosome disorder as the next member but we all work together to help people out. Awesome organization!!
Chromosome Disorder Outreach helped me to understand Regarding mutant genes that was found at my fetus (UPD3), direct me to a technique, whole exome sequencing (WES), which allows recognition of mutations in almost all protein-coding genes.
and provide with all relevant medical information about UPD3.
This nonprofit has offered invaluable resources to a parent whose child was diagnosed with a very rare chromosome disorder. When even the doctors don't have information, Chromosome Disorder Outreach, Inc. did.
I am the mother of a wonderful daughter who is the mother of a wonderful son who has a chromosome disorder. Chromosome Disorder Outreach has been an amazing support for my daughter and grandson - both emotional, practical and inspiring, as well as providing research and extensive information for their family.
CDO's slogan is "You Are Not Alone." When your child (or children in our case) are diagnosed with a rare chromosome disorder, it does feel like you're alone. Through CDO's network and database, we've been able to learn more about the disorder and connect with other families. CDO is a bright light, in a dark, scary situation. Keep up the good work!
CDO has been a tremendous help to my family. We found CDO 17 years ago when our son was born. We were so confused and alone but CDO had and still does show that we are not alone.
CDO is an amazing group of people dedicated to helping complete strangers walk through the difficult and sometimes devastating world of genetic syndromes. This is a group of caring, knowledgeable, compassionate, and hard working volunteers. You can connect with someone on the other side of the keyboard day or night. You can e-mail them for journal articles related to your child's chromosome disorder, or with any type of question you may have and someone will get back to you within 24 hours, sometimes sooner. I have personally had questions answered by the geneticist on staff. He helped me unravel a difficult diagnosis for my daughter, and gave me the information that I necessary for me to speak with her hematologist and make a compelling case for further studies. If you or a loved one has a chromosome disorder, whether rare or not, CDO is a great place for information and a caring person to walk you through the tangled web of doctors, treatments, therapies, and information.
My son, Darius is 26 years old with a Chromosome deletions 13q. I have been a member of Chromosome Disorder Outreach, Inc. since he was 3 years old.
The newsletter is a great source of information and connecting you with other families of children with rare chromosomal disorders. I have found geneticists who are familiar with my son specific deletion.
This group has given us the access to connect with other families that have children with similar chromosomal disorders. That connection has been invaluable to us.
My daughter has an extremely rare genetic disorder and through this nonprofit we managed to connect with about 10 children with the same rare chromosome disorder. We have been able to compare developmental progress, medical findings, solutions that have worked, and also compassion, support, useful tips and friendships. It's an amazing site that has changed our lives, broadened our knowledge, and brought parents together in ways no other organization has been able to.
Amazing, very informative, a must for anyone who has a loved one with a chromosome disorder! Thank you for all you do!!!
My son and 2 grandchildren were diagnosed with a rare chromosome deletion 2 years ago. This sent our world into chaos, trying to find any information to understand what this was about and what to expect. It was only at my insistence that my 6yo grandson was diagnosed, through a pediatrician, as he was showing definite signs of autism. We eventually got results of genetic testing in the mail and had to wait 8months for a genetic counselling.
It felt like the longest 8 months of my life, as I searched and searched for information.
Am so grateful to the chromosome disorder outreach for the information and support they provide to families in similar situations. I cried with relief when I came across the website, just to know there was others out there going through the same torment of feeling in the dark with very little support. Thank you for just being there! L.Robinson
Its hard for parents and or individuals that need resources to help a loved one, but with the help of CDO I had many usefull informative sites at my hand.
We found out a month ago that our baby has a rare genetic condition...one that doesn't even have a name! As soon as I found out, I started looking online for some sort of information and came across CDO. Even before I fully registered (which I've now done and gotten access to many other benefits), I read and cried through so many different pages on their site. The cover photo on their website says, "You are not alone," and that was exactly what I needed to hear. I am very thankful for how this organization has helped me just in the past few weeks and I anticipate it being a wonderful resource for us throughout our daughter's life.
CDO has been a place for me and my wife to learn more about our son's condition. We have also found out that we are not alone as we have learned the stories of other families. This website and nonprofit has been a great support community for us.
Great website that help medical geneticists provide information on rare chromosomal disorders to patients.
Three years ago I got a phone call from the geneticist's office. I was told that our daughter Diana has a rare chromosome deletion that is associated with major abnormalities of the body, as well as overall developmental delays. Like many mothers who are confronted with such news, I fell to the floor screaming. I felt so alone. Nobody I knew was in a situation like ours. Additionally, Diana's deletion was not presenting itself in the same way as others who have her deletion, so we had no blueprint for her development.
When I found this group I also found people like me, going through similar experiences. From discussing practical and medical issues (which diapers are best for larger children) to emotional issues (how do we react when people mock our children) we have a place to go. Additionally, with more research and awareness, we hope to improve the lives of our children. We want all the good things for our children that all parents want.
Picture -Diana and her Daddy when he returned from deployment
They are the only US organization that cares about our children's condition. They are a source of info for those of us who must advocate for our children in a medical environment geared to treating "standard" issues with normal children.
When you learn that your child has a chromosome disorder that is shared by only 20 or so other children in the world and this condition is considered "undiagnosed" because the doctors do not know anything about it, you are bewildered. CDO was a godsend because it connected us with parents of similarly affected children. It was in talking with these parents that we were able to manage our child's healthcare. The doctors simply have no experience in dealing with children with "undiagnosed" chromosome disorders. I do not know what we would have done without CDO.
This is an excellent organization for information and connection to other families with rare chromosomal disorders. They were the first real information I found when my son was about 3-years-old and I was lost back then. This organization helped me greatly. He's now 21.
My son, Darius is 24 years, born with chromosome abnormality deletion 13q. Darius is a fun and personable young man. He is vocal but his expressive language is compromised and limited. His receptive language is better. He is a handsome young man with beautiful blue eyes. Darius is graduating from a program called Career and Community Studies at the College of New Jersey, an academic and living independently program for young adults with developmental disabilities. If someone had told me ten years ago, your son will attend college and do well. I would have look at them as if they had two heads. My son has surpass my limited thinking. He has shown me that is very capable of living a productive life with support. Darius is graduating from college this May, and is working three days a week for three hours a day. He loves sports, and his goal is to work for an university sports team. I have been a member of the Chromosome Disorder Outreach since my son was 3 or 4 years old. It's a organization for us to share our story and experience raising our kids with a rare disorder. It has apprised me of resources and medical professionals to help better understand my son's disorder.