Dealing with a diagnosis

Receiving a diagnosis of a developmental disability is an emotional roller coaster for all involved. But the diagnosis is only the beginning.

For most, there is a process of guilt, anger and sadness to overcome before returning to a life of hope, calm and a sense of normalcy. In this installment of Scoop Essentials, genetic associate Louise W. Gane from the M.I.N.D. Institute at the University of California at Davis walks you through the process.

Check out what Gane has to say and then click here to submit your own questions to her.

Disability Scoop: What are the steps to dealing with a diagnosis?

Louise W. Gane: When a child is born with a disability, the parents go through an emotional journey. It doesn’t occur in a specific order but it may include grief, anger, guilt and real sadness over the loss of the child that they hoped to have and the loss of the expectations that they had for the child. They may feel why me? They may wonder if the disability resulted from something that was done during pregnancy. Often when a child is born with a disability, the parents will search for a reason.

Disability Scoop: How do males deal with a diagnosis differently than females?

Louise W. Gane: Men and women deal with the grieving process differently. I don’t want to sound sexist, but often women are more tearful and more emotional and may also experience depression. Whereas many of the husbands or fathers of the child will get very busy learning what can be learned about the condition so that they can take control and feel like they’re doing something to help the child.

Disability Scoop: How long does it take for families to come to terms with a diagnosis?

Louise W. Gane: I’ve seen some families go through the process — the grief, the anger, the denial, etc. — very quickly, within a matter of two or three months. I have seen other families take eight years. So there is no time limit on the process and there is no sequence to the emotions experienced during the process. What I do know is that eventually the parents reach a place where they come to peace with the disability.

Disability Scoop: How will your life be different after receiving a diagnosis?

Louise W. Gane: It seems like your whole world is turned upside down once you get a diagnosis. Everything that was is not the same any longer. It feels like there’s a loss of control. Parents often need support to deal with the physical needs as well as with the emotional needs. It generally takes a good year for things to get back into a routine and for a degree of normalcy to be obtained. Parents do get there, but it’s a process.

Disability Scoop: What are common issues or fears people have when they learn about a diagnosis?

Louise W. Gane: Usually the concerns and fears people have are based on misconceptions and sometimes miscommunication by professionals. When lay people, such as most parents, hear terms like mental retardation, they think that the child will never really progress or develop or have his or her own personality. Their understanding of what those words mean are not really accurate.

No matter what a child’s disability is, they all develop their own personalities and become their own individuals. Mental retardation just is a number. Every child, no matter the diagnosis, continues to grow and learn and change.

It’s really important for parents to have hope and faith and understand that there is a future for their child. Their child does have possibilities, especially in today’s society and even more so in tomorrow’s society, to be productive in his or her own way.

Disability Scoop: Do parents have preconceived notions of what disability means that they have to overcome?

Louise W. Gane: Absolutely. That’s part of the process. It is a journey to learn what is really meant by a diagnosis and what goes along with the diagnosis as far as difficulties. These days most parents go to the Internet, which can be a really helpful place, but the Internet can also be an extremely scary place. When parents of a newly diagnosed child call me, I often ask them to stop getting on the Internet or not to get on the Internet as much. The reason is that often what you find on the Internet is the worst-case scenario. The future for children born prior to today is different than the prognosis for a child that’s born today or tomorrow.

Disability Scoop: What about feelings of guilt and shame?

Louise W. Gane: Guilt is a normal reaction. Usually you don’t know what caused the diagnosis and so you look for something within your own frame of reference and you feel that it’s something that you caused as a parent.

I understand that people feel guilt. However, most disabilities occur sporadically or maybe in conjunction with other difficulties. They’re not something people need to feel guilty about or ashamed or embarrassed about.

Every child no matter what his or her disability, has real strengths and has a personality. That is what needs to be recognized and valued. When parents get a new diagnosis, I will tell them to spend 15 to 30 minutes a day not thinking of the diagnosis but seeing their child for who they are.

Disability Scoop: How do you break the news to friends and family? What should you expect when doing so?

Louise W. Gane: You can’t expect anything because friends and family are their own individuals. Some friends and family are instantly on board and supportive and will help with whatever needs to be done. However, others will say, “this is your problem, not my problem,” and don’t want to have anything to do with it. Yet others will say, there’s nothing wrong.

If it’s a genetic disability like spina bifida, cystic fibrosis or fragile X, it’s important to let family members know because it may impact other family members. Sometimes people will let family members who are resistant know about the diagnosis by sending a letter. I have a letter for people to use that says, “someone in your family has been diagnosed with a disability.” The letter talks about what it is and gives them my phone number and might suggest that they contact a genetic counselor in their area to get further information.

In other situations, people may have a family reunion and talk to family members then. Often in families that are resistant, it can be helpful to identify a family member who’s in touch with everyone else. Enlist them in the mission to let other people know about the disability and, if it’s genetic, the potential risks for other family members. There is no right or wrong. There is not just one way. It’s very individual. It has to be a way that the parents are comfortable with. Sometimes parents aren’t comfortable telling family or friends for several years. Others may talk about it immediately.

Disability Scoop: Is dealing with a diagnosis something you do for a brief period of time when you first learn of it, or is it a lifelong process?

Louise W. Gane: It’s lifelong. But the first year is the worst. I always tell my patients that once they get through the first year, they can survive anything.

There are lots of times when these emotions reoccur, however. When the child is three and makes the move into preschool, there’s a jolt. Then when they go into elementary school, that’s another time when parents are hit with a lot of the ramifications emotionally from the diagnosis. When the child goes into middle school, again, that’s another time when the emotions are likely to arise, going into high school and then getting out of high school.

During these times parents are faced with the emotions that they dealt with when the diagnosis was first made. However, those emotions are usually not as strong and having had a history of coping with prior transition periods, it’s usually not as severe or as crippling as it was when they got the original diagnosis.

Disability Scoop: Families may be inclined to search for a cure after learning of a diagnosis. How can people come to terms with the idea that there may not be a cure out there and that disability is lifelong?

Louise W. Gane: This is normal. When a baby or a young child gets a diagnosis, the parents are going to focus on curing that child. It’s a coping mechanism. It leads to great advocacy and is a productive channel to direct one’s energies.

Young parents with a young child are very creative and very innovative. There are many examples of what new parents accomplish either through money, through energy or through education that older parents don’t necessarily accomplish. That’s because when the child with the disability gets older, it becomes more normalized within the family. The parents have reached a coping stage where they’re back to a normal routine. The parents are often older, so they have less energy. These parents are often looking for answers that won’t change who their child is, but will be of help to lessen some of the difficulties that the individual is experiencing. That’s the progression of coping with a diagnosis.

Young parents are often looking for that magic bullet. It is important that when they work with professionals, that the professionals explain that there may not be a magic bullet.

Disability Scoop: If you have a genetic condition or have a child with a genetic condition, can you have other children that don’t have the condition?

Louise W. Gane: If you’ve received a genetic diagnosis, even if the child has an isolated congenital defect like hydrocephalous or spina bifida, you are at a slightly increased risk to have another child with the same problem or a similar problem.

If it’s a single gene disorder or a recessive condition where each parent gives a gene that contributes to the condition, you can have chorionic villus sampling (CVS) or amniocentesis during pregnancy. With chorionic villus sampling, they take a little bit of the placenta and can do chromosomal and gene analysis to rule out any problem in the fetus. Or, they can do an amniocentesis, where they take amniotic fluid and do a similar procedure.

Most people think that you only have CVS or amniocentesis if you’re going to terminate a pregnancy. This is absolutely not true. If you find out the child is going to have difficulties after birth, it allows you to prepare for that child’s birth and it allows you to have the right follow-up immediately after birth or within the first few months. It’s about good parenting because it allows you to make decisions that are in the best interest of the child.

Disability Scoop: How can people learn about their diagnosis?

Louise W. Gane: The Internet is a very good place to find foundations and associations. Many parent groups have great Web sites that are very supportive and helpful and then give links to other places. People can go to Genetic Alliance, which covers every genetic condition. Also, the professional who’s helping care for the child can certainly find resources and give referrals.

Often it is good to reach out to a genetic counselor because the genetic counselor can answer questions about whether or not the diagnosis could be related to a genetic condition and will know whether further steps should be taken as far as seeing a medical geneticist and risks to other families members. Nurse practitioners are also very savvy as to referrals and resources.

Disability Scoop: How important are friends and family in dealing with a diagnosis? What about support groups, therapy?

Louise W. Gane: Friends and groups are just incredibly important. Friends are invaluable because friends can provide respite and emotional support. Just being there as a friend is invaluable. Reach out and find someone who knows what you’re going through and understands it. That’s a huge relief to parents of a newly diagnosed child. You cannot in life, whether you have a child with a disability or not, get along without friends and support systems in place. This is even more true when a child has a disability.