Welcome to the Dup15q Alliance, We are glad you found us!
Whether newly diagnosed or living the daily life of a family affected by dup15q syndrome and just now reaching out, you are not alone!
With the diagnosis of dup15q syndrome parents usually feel overwhelmed, and have many other emotions. It’s likely that you’ve never heard the term isodicentric 15 or interstitial duplication 15. You may find yourself overwhelmed by trying to understand what this new diagnosis means for your child and his/her development, what it will mean for your family, and what the future will look like. With the Dup15q Alliance, you are joining a community of people who understand what you are going through, whatever stage you are in, and are here to help.
Registering as a member of the Dup15q Alliance gives you full access to all of the resources that the Alliance offers. As part of this registration, we ask for some contact info as well as some background questions. We do not share this information with anyone and it is important that you fill out the form completely.
New Family Support Calls
Dup15q Alliance has a Family Intake Manager who helps mentor new Dup15q Alliance families that need some guidance navigating their new diagnosis. Many families find it helpful to talk to someone who can answer some of your questions firsthand and offer you support. Email email@example.com or call 1-313-509-7984
Dup15q Counseling Program
Dup15q Alliance now offers counseling services at no charge to our families. This service is not meant to replace a traditional counseling program. Anyone who is in need can email firstname.lastname@example.org to schedule an appointment with our counselor, Shannon. (773) 259-4200
Parent Support Page
The official Dup15q Alliance Parent Support Facebook Group for Parents or full-time caregivers of individuals with dup15q syndrome to discuss and share the ins-and-outs and ups-and-downs of raising an individual with a duplication of chromosome 15q. Since our members are all over the world, 24-hours a day, 7-days a week someone is there for you to ask your questions, support you, and help you. This private Facebook group is only for the members of our nonprofit organization. Requests to join this group are verified by the Executive Director and/or the Family In-Take Coordinator.
Dup15q Alliance is a support organization, and we are here to support families who receive a prenatal diagnosis of dup15q. We recognize that families face difficult decisions with this diagnosis and we are a support organization. Prenatal testing or preimplantation genetic testing using chromosomal microarray (CMA) will detect the 15q interstitial duplication; however, prenatal test results cannot reliably predict the severity of the symptoms even in a pregnancy known to be at increased risk for maternal dup15q. If you have any questions please contact us at +1-313-509-7984
Opportunity of Infants diagnosed with dup15q syndrome currently under the age of 1 years old. The purpose of Parents and Infants Inter(X)action Intervention (PIXI) is to study ways of supporting the early development of infants diagnosed with rare neurogenetic disorders in their first year of life. PIXI is funded by the John Merck Fund and is led by RTI International (RTI) in collaboration with researchers at the University of North Carolina Chapel Hill. The team includes neurodevelopmental psychologists, early interventionists, and experts in neurogenetic conditions (e.g., fragile X syndrome, Angelman syndrome), autism spectrum disorder, and early childhood development.
The goal of PIXI is to provide developmental and behavioral support for infants with rare neurogenetic disorders through a two-phase targeted parent-mediated intervention program. Learn More HERE.
As a parent, receiving a diagnosis for your child that is life-changing will shake you to your core. But we are not alone! Having a safe place to explore feelings of “this is not the way it’s supposed to be” is what Dup15q Alliance Parent to Parent Ambassadors is all about. Sharing the emotional process that often comes with the diagnosis of dup15q syndrome with someone who has also experienced these feelings through Peer Support, can be helpful to many families.
Parent to Parent Ambassadors are Peer Support Specialists who have walked the path of a dup15q diagnosis and have volunteered to support their fellow dup15q families. Parent Ambassadors have completed a 6-week Child Neurology Peer Support Training to listen to their peers along this emotional journey without judgment. Peer Support is a process in which reciprocal support is facilitated by one trained individual who shares his/her common life experience with another individual. This supportive, fluid process aims to enable mutual empowerment and a sense of connection. Learn More or Contact Our Ambassadors.
Signs and Symptoms
Dup15q Syndrome is characterized by having an extra copy of a portion of chromosome 15 in the 11.2 – 13.1 region in combination with a number of symptoms that may include, hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms. Rarely, maternal dup15q may also be associated with psychosis or sudden unexplained death.
It is important to acknowledge that there is a wide range of severity in the developmental disabilities experienced by individuals with chromosome 15q11.2-13.1 duplication syndrome. Two individuals with the same dup15q chromosome pattern may be very different in terms of their abilities. Reviews of the scientific literature do not show an obvious correlation between the size of the duplication region and the severity of the symptoms. However, the following features are found to some degree in most individuals with dup15q syndrome.
Although this website can provide general information on chromosome 15q11.2-13.1 duplication syndrome, you should always consult with your personal physician or genetic counselor for specific details on your situation.
Health Care Needs
To establish the needs of those diagnosed with Dup15q syndrome, a complete review of symptoms, physical examination, assessments of possible feeding difficulties associated with hypotonia, neurologic examinations including assessment for seizure activity and baseline EEG, and consultation with a clinical geneticist and/or genetic counselor are recommended. A need for ongoing specialist care is frequent.
It is suggested that a multidisciplinary team evaluate infants for motor and speech development and later assist in referrals for appropriate educational programs. Supportive care may include: occupational and physical therapy, alternative and augmentative communication, behavioral therapy (e.g., applied behavioral analysis therapy), psychotropic medications for behavioral manifestations, and standard management for seizures. It is also notable that behavioral changes may be indicators of physical problems such as constipation or pain. Individuals with Dup15q syndrome should be carefully examined if there is an acute change in behavior.
It is recommended that periodic surveillance be conducted for neurodevelopmental and/or developmental/behavioral, and monitoring for evidence of seizures and/or change in seizure type.
Dup15q Alliance connects those who practice evidence-based medicine for Dup15q syndrome with a high level of excellence and ensure as many families have access to it as possible through our Dup15q Clinics in the LADDER Learning Network. The LADDER Learning strives to provide the best possible care to those affected with dup15q syndrome through our Dup15q Clinics while also collecting clinical research data into the LADDER database. Additionally, the LADDER Learning Network is a collaborative group that offers educational conversations between researchers and medical professionals involved in treating those with dup15q syndrome, along with advocacy groups, and biopharma companies. This collaboration allows us to expand our clinical footprint, improve access to care, and bring together a larger group of medical professionals around the world.
Programs & Resources
Dup15q Alliance has been providing family support and advocacy to families affected by dup15q syndrome for over 28 years. One of our main goals is to create a community where families can ask questions, learn about dup15q syndrome, get involved and advocate for those affected by the syndrome. We envision a world where families, clinicians, and advocates enable dup15q individuals to thrive.
We are proud to continue to offer programs that help uplift, support, and engage our community by providing the basic principles that the Alliance was founded upon through a variety of resources and support options. Dup15q Alliance Programs offers programs, resources, and support at all stages of life, through all transitions.
You Are Not Alone
You may feel completely overwhelmed. You may also feel relieved to know that the concerns you have had for your child are valid. Whatever it is you feel, know that hundreds of parents share this journey. You are not alone.
This is written from the personal perspective of a parent whose child was diagnosed with a disability.
The day my child was diagnosed as having a disability, I was devastated — and so confused that I recall little else about those first days other than the heartbreak. Another parent described this event as a “black sack” being pulled down over her head, blocking her ability to hear, see, and think in normal ways. Another parent described the trauma as “having a knife stuck” in her heart. Perhaps these descriptions seem a bit dramatic, yet it has been my experience that they may not sufficiently describe the many emotions that flood parents’ minds and hearts when they receive any bad news about their child. Many things can be done to help yourself through this period of trauma. In order to talk about some of the good things that can happen to alleviate the anxiety, let us first take a look at some of the reactions that occur.
On learning that their child may have a disability, most parents react in ways that have been shared by all parents before them who have also been faced with this disappointment and with this enormous challenge. One of the first reactions is that of denial — “This cannot be happening to me, to my child, to our family.” Denial rapidly merges with anger, which may be directed toward the medical personnel who were involved in providing the information about the child’s problem. Anger can also color communication between husband and wife or with grandparents or significant others in the family. Early on, it seems that the anger is so intense that it touches almost anyone, because it is triggered by the feelings of grief and inexplicable loss that one does not know how to explain or deal with.
Fear is another immediate response. People often fear the unknown more than they fear the known. Having the complete diagnosis and some knowledge of the child’s future prospects can be easier than uncertainty. In either case, however, fear of the future is a common emotion: “What is going to happen to this child when he is five years old, when he is twelve, when he is twenty-one? What is going to happen to this child when I am gone? Then other questions arise: “Will he ever learn? Will he ever go to college? Will he or she have the capability of loving and living and laughing and doing all the things that we had planned?” Other unknowns also inspire fear. Parents fear that the child’s condition will be the very worst it possibly could be. Over the years, I have spoken with so many parents who said that their first thoughts were totally bleak. One expects the worst. Memories return of persons with disabilities one has known. Sometimes there is guilt over some slight committed years before toward a person with a disability. There is also fear of society’s rejection, fears about how brothers and sisters will be affected, questions as to whether there will be any more brothers or sisters in this family, and concerns about whether the husband or wife will love this child. These fears can almost immobilize some parents.
Then there is guilt — guilt and concern about whether the parents themselves have caused the problem: “Did I do something to cause this? Am I being punished for something I have done? Did I take care of myself when I was pregnant? Did my wife take good enough care of herself when she was pregnant?” For myself, I remember thinking that surely my daughter had slipped from the bed when she was very young and hit her head, or that perhaps one of her brothers or sisters had inadvertently let her drop and didn’t tell me. Much self-reproach and remorse can stem from questioning the causes of the disability. Guilt feelings may also be manifested in spiritual and religious interpretations of blame and punishment. When they cry, “Why me?” or “Why my child?”, many parents are also saying, “Why has God done this to me?” How often have we raised our eyes to heaven and asked: “What did I ever do to deserve this?” One young mother said, “I feel so guilty because all my life I had never had a hardship and now God has decided to give me a hardship.”
Confusion also marks this traumatic period. As a result of not fully understanding what is happening and what will happen, confusion reveals itself in sleeplessness, inability to make decisions, and mental overload. In the midst of such trauma, information can seem garbled and distorted. You hear new words that you never heard before, terms that describe something that you cannot understand. You want to find out what it is all about, yet it seems that you cannot make sense of all the information you are receiving. Often parents are just not on the same wavelength as the person who is trying to communicate with them about their child’s disability.
Powerlessness to change what is happening is very difficult to accept. You cannot change the fact that your child has a disability, yet parents want to feel competent and capable of handling their own life situations. It is extremely hard to be forced to rely on the judgments, opinions, and recommendations of others. Compounding the problem is that these others are often strangers with whom no bond of trust has yet been established.
Disappointment that a child is not perfect poses a threat to any parent’s ego and a challenge to the value system. This jolt to previous expectations can create reluctance to accept one’s child as a valuable, developing person.
Rejection is another reaction that parents experience. Rejection can be directed toward the child or toward the medical personnel or toward other family members. One of the more serious forms of rejection, and not that uncommon, is a “death wish” for the child — a feeling that many parents report at their deepest points of depression. During this period of time when so many different feelings can flood the mind and heart, there is no way to measure how intensely a parent may experience this constellation of emotions. Not all parents go through these stages, but it is important for parents to identify with all of the potentially troublesome feelings that can arise, so that they will know that they are not alone. There are many constructive actions that you can take immediately, and there are many sources of help, communication, and reassurance.
Seek the assistance of another parent
There was a parent who helped me. Twenty-two hours after my own child’s diagnosis, he made a statement that I have never forgotten: “You may not realize it today, but there may come a time in your life when you will find that having a daughter with a disability is a blessing.” I can remember being puzzled by these words, which were nonetheless an invaluable gift that lit the first light of hope for me. This parent spoke of hope for the future. He assured me that there would be programs, there would be progress, and there would be help of many kinds and from many sources. And he was the father of a boy with cognitive impairment.
Talk with your mate, family and significant others
Over the years, I have discovered that many parents don’t communicate their feelings regarding the problems their children have. One spouse is often concerned about not being a source of strength for the other mate. The more couples can communicate at difficult times like these, the greater their collective strength. Understand that you each approach your roles as parents differently. How you will feel and respond to this new challenge may not be the same. Try to explain to each other how you feel; try to understand when you don’t see things the same way.
If there are other children, talk with them too. Be aware of their needs. If you are not emotionally capable of talking with your children or seeing to their emotional needs at this time, identify others within your family structure who can establish a special communicative bond with them. Talk with significant others in your life — your best friend, your own parents.
For many people, the temptation to close up emotionally is great at this point, but it can be so beneficial to have reliable friends and relatives who can help to carry the emotional burden.
Rely on positive sources in your life
One positive source of strength and wisdom might be your minister, priest, or rabbi. Another may be a good friend or a counselor. Go to those who have been a strength before in your life. Find the new sources that you need now. A very fine counselor once gave me a recipe for living through a crisis: “Each morning, when you arise, recognize your powerlessness over the situation at hand, turn this problem over to God, as you understand Him, and begin your day. ³Whenever your feelings are painful, you must reach out and contact someone. Call or write or get into your car and contact a real person who will talk with you and share that pain. Pain divided is not nearly so hard to bear as is pain in isolation. Sometimes professional counseling is warranted; if you feel that this might help you, do not be reluctant to seek this avenue of assistance.
Take one day at a time
Fears of the future can immobilize one. Living with the reality of the day which is at hand is made more manageable if we throw out the “what ifs” and “what then” of the future. Even though it may not seem possible, good things will continue to happen each day. Worrying about the future will only deplete your limited resources. You have enough to focus on; get through each day, one step at a time.
Learn the terminology
When you are introduced to new terminology, you should not be hesitant to ask what it means. Whenever someone uses a word that you don’t understand, stop the conversation for a minute and ask the person to explain the word.
Some parents seek virtually “tons” of information; others are not so persistent. The important thing is that you request accurate information. Don’t be afraid to ask questions, because asking questions will be your first step in beginning to understand more about your child. Learning how to formulate questions is an art that will make life a lot easier for you in the future. A good method is to write down your questions before entering appointments or meetings, and to write down further questions as you think of them during the meeting. Get written copies of all documentation from physicians, teachers, and therapists regarding your child. It is a good idea to buy a three-ring notebook in which to save all information that is given to you. In the future, there will be many uses for information that you have recorded and filed; keep it in a safe place. Again, remember always to ask for copies of evaluations, diagnostic reports, and progress reports. If you are not a naturally organized person, just get a box and throw all the paperwork in it. Then when you really need it, it will be there.
Do not be intimidated
Many parents feel inadequate in the presence of people from the medical or educational professions because of their credentials and, sometimes, because of their professional manner. Do not be intimidated by the educational backgrounds of these and other personnel who may be involved in treating or helping your child. You do not have to apologize for wanting to know what is occurring. Do not be concerned that you are being a bother or are asking too many questions. Remember, this is your child, and the situation has a profound effect on your life and on your child’s future. Therefore, it is important that you learn as much as you can about your situation.
Do not be afraid to show emotion
So many parents, especially dads, repress their emotions because they believe it to be a sign of weakness to let people know how they are feeling. The strongest fathers of children with disabilities whom I know are not afraid to show their emotions. They understand that revealing feelings does not diminish one’s strength.
Learn to deal with natural feelings of bitterness and anger
Feelings of bitterness and anger are inevitable when you realize that you must revise the hopes and dreams you originally had for your child. It is very valuable to recognize your anger and to learn to let go of it. You may need outside help to do this. It may not feel like it, but life will get better and the day will come when you will feel positive again. By acknowledging and working through your negative feelings, you will be better equipped to meet new challenges, and bitterness and anger will no longer drain your energies and initiative.
Maintain a positive outlook
A positive attitude will be one of your genuinely valuable tools for dealing with problems. There is, truly, always a positive side to whatever is occurring. For example, when my child was found to have a disability, one of the other things pointed out to me was that she was a very healthy child. She still is. The fact that she has had no physical impairments has been a great blessing over the years; she has been the healthiest child I have ever raised. Focusing on the positives diminishes the negatives and makes life easier to deal with.
Keep in touch with reality
To stay in touch with reality is to accept life the way it is. To stay in touch with reality is also to recognize that there are some things that we can change and other things that we cannot change. The task for all of us is to learn which things we can change and then to set about doing that.
Remember that time is on your side
Time heals many wounds. This does not mean that living with and raising a child who has problems will be easy, but it is fair to say that, as time passes, a great deal can be done to alleviate the problem. Therefore, time does help!
Find programs for your child
Even for those living in isolated areas of the country, assistance is available to help you with whatever problems you are having. NICHCY’s State Resource Sheets list contact persons who can help you get started in gaining the information and assistance you need. While finding programs for your child with a disability, keep in mind that programs are also available for the rest of your family.
Take care of yourself
In times of stress, each person reacts in his or her own way. A few universal recommendations may help; Get sufficient rest; eat as well as you can; take time for yourself; reach out to others for emotional support.
Self-pity, the experience of pity from others, or pity for your child are actually disabling. Pity is not what is needed. Empathy, which is the ability to feel with another person, is the attitude to be encouraged.
Decide how to deal with others
During this period, you may feel saddened by or angry about the way people are reacting to you or your child. Many people’s reactions to serious problems are caused by a lack of understanding, simply not knowing what to say, or fear of the unknown. Understand that many people don’t know how to behave when they see a child with differences, and they may react inappropriately. Think about and decide how you want to deal with stares or questions. Try not to use too much energy being concerned about people who are not able to respond in ways you might prefer.
Keep daily routines as normal as possible
My mother once told me, “When a problem arises and you don’t know what to do, then you do whatever it was that you were going to do anyway.” Practicing this habit seems to produce some normalcy and consistency when life becomes hectic.
Remember that this is your child
This person is your child, first and foremost. Granted, your child’s development may be different from that of other children, but this does not make your child less valuable, less human, less important, or in less need of your love and parenting. Love and enjoy your child. The child comes first; the disability comes second. If you can relax and take the positive steps just outlined, one at a time, you will do the best you can, your child will benefit, and you can look forward to the future with hope.
Recognize that you are not alone
The feeling of isolation at the time of diagnosis is almost universal among parents. It helps to know that these feelings have been experienced by many, many others, that understanding and constructive help are available to you and your child, and that you are not alone. Dup15q Alliance provides many ways for parents to connect with each other to share the experience, joys, and frustrations of raising a child with a duplication of chromosome 15q. By registering with Dup15q Alliance you will receive a listing of other families around the world who have agreed to share their contact information and our quarterly newsletters. You may participate in the message boards available on this website where parents share their daily experiences. The Dup15q Alliance parent match program can provide you with a parent mentor. Finally, you will have the opportunity to meet families in regional gatherings and the international conferences that are held every two years.