2. Quality of Life
2.1. During Pregnancy (Prenatal)
2.3. Impact on Quality of Life
2.4. Helping Families Cope—Healthcare Professionals
2.5. Helping Families Cope—Support Groups
When Joshua was diagnosed with a heart defect, we felt so alone—like no one understood what we were going through. We had never heard of congenital heart defects before he was diagnosed, and despite good medical care, we had a lot of questions. Finally, we connected with other parents with children who had congenital heart defects—people who had been through the same open-heart surgeries and procedures. Not only did we have questions answered and feel more relaxed caring for Joshua, we made life-long friends. Also, Joshua feels more comfortable around kids with the same scars and the same limitations.
While still in the hospital after receiving the diagnosis of our son’s birth defect, we were not told of any other parents in the immediate area with whom we could connect. After his birth, the support organization in the area came to clinics and took our information, but we only received a couple of mailings and only one contacted us. The one activity I did attend was an hour’s drive and required much effort. The people helping at booths were nice, but not one person came to welcome us when we were obviously new and overwhelmed. For some this may not be a problem, but for others like me, a new social situation can be terrifying, especially when you are still trying to deal with the implications of your child’s defect. It would have been nice to connect with people closer to home and to feel welcomed.
Communication of Diagnosis
When we were told our son would have spina bifida, we were given information that was outdated, poorly copied and folded. I read very little from those fliers because I felt that the information would not be correct or current. As a mom, this caused me to feel like I did not have adequate information to help me care for my son, and therefore made me have more anxiety about his care. This could have been avoided simply by finding more updated and relevant information that also looked current and professional.
4. Parents as Prevention Partners
- Why did this happen to my child?
- How do we prevent this from happening again with another child?
4.1. Advocating for Research
My daughter Ashley was born with gastroschisis and microtia/atresia. The gastroschisis had to be repaired at birth in order for her to survive, and the microtia/atresia left her hearing impaired. When she was born eight years ago, doctors said that it was just a “fluke” and very rare. Since then, the prevalence of gastroschisis has more than quadrupled; rates are still on the rise and nobody knows why. Research funding is being cut, and this impacts our family and future generations. I have spent her entire life advocating for more research so that other families have answers and so we can stop this birth defect from increasing even more. My daughter is healthy now, with only minor health repercussions and a few scars as a reminder of her struggles and surgeries, but I want to prevent other children from having to endure the same experiences. She has become quite an advocate herself, and she will tell people what she was born with while explaining that “she was just made this way nobody knows why.” I’m confident that one day Ashley will be able to tell people the “why” of her birth defects.
As a parent I was asked to participate in the National Birth Defect Prevention Network Study. As a participant, I was asked personal questions about many aspects of my pre-conception health and pregnancy. This caused me to gain awareness about my personal habits when considering subsequent pregnancies. I found that I was much more aware of potential teratogens including caffeine, smoking and other environmental dangers that may adversely affect my pregnancies. As this study identifies more factors that may increase the risk of birth defects, we will begin to find answers to the why question.
4.2. Disseminating Information
4.3. Pointing out Neglected Issues
The craniofacial team has been very helpful in facilitating a full service support for Jacob and our family. Besides actually repairing Jacob’s cleft lip and palate, they have helped us to identify and subsequently seek treatment for feeding issues, speech support, audiological interventions, orthodontic care, sleep and pulmonology issues, psychological services, gastrointestinal issues and provide financial direction in order to pay for all the treatments Jacob requires. This has been such a support for our family.
Jacob was born with a cleft lip and palate. We had to have multiple surgeries to correct his lip and palate. We were required to constantly monitor him so he would not put anything in his mouth. The restraints provided after surgery were not effective and continually slipped off of Jacob’s arms or poked him in the face. We were forced to develop an elaborate diaper pinning system that worked more efficiently in our situation. In addition, his nasal stents did not stay in place and this ultimately had an impact on his nasal development.
4.4. Consistency of Care across Settings
Our three year old son with cleft lip and palate was initially seen at a craniofacial clinic in the west that offered a new procedure designed to prevent subsequent jaw surgery. As we moved across the country we discovered that the clinic at the new location did not offer this particular procedure. Because of the clinic’s differing views on best practice, our son was subsequently required to undergo the more invasive jaw surgery.
5. Transition to Adult Care for Children with Birth Defects
5.1. Start Early
5.2. Understanding Their Condition
Joshua was born with a congenital heart defect called Hypoplastic Left Heart Syndrome and had three open-heart surgeries before the age of three. The name of his heart defect, alone, is way too much for even most adults to say or understand, so when Joshua was about four-years-old, we explained to him that he had a special heart that needed special care. At five years of age, he learned that he was born with Hypoplastic Left Heart Syndrome, what he now calls “half-a-heart,” or sometimes a “right heart.” We let him ask his health care providers questions and they, in turn, talk to him about his heart defect, his scar, medications he needs, and his activities.
Joshua feels that he is braver than other kids because he made it through three open-heart surgeries for the staged repairs of his Hypoplastic Left Heart Syndrome. This belief in himself has given him good self-esteem despite his limitations, and he has a can-do attitude.
5.3. Allowing Questions
5.4. Locate Specialists and Resources
5.5. Empower Your Child
5.6. Research Areas
|Communicating, Coping and Adapting||Diagnosis||Survey parents on preferred communication techniques; train physicians on methods of effective communication to parents based on results|
|Provide information to parents during prenatal or postnatal diagnosis with compassion and include referral to appropriate services or support groups|
|Support||Increased collaboration between medical providers and patient support/advocacy groups|
|Encourage practitioners to refer patients to support groups as part of standard procedure|
|Information||Research best methods for information dissemination to parents|
|Empower parent and advocacy groups to contribute to research|
|Means to connect parents, patients, and healthcare professionals for more effective advocacy|
|Resources||Develop reliable resources for parents, particularly web-based resources for instant access|
|Increased access to support devices, technologies, and therapies needed|
|Creation of a national 800# for parents to call in for information, support, and referrals|
|Quality of Care||Clinician Knowledge||Ensure open communication amongst clinicians regarding the most up-to-date research studies|
|Creation of multi-disciplinary clinics|
|Consistency of care||Find a way to standardize quality of care nationwide|
|Consistent follow up with affected families|
|Understand co-morbidities||Additional research on occurrence and prevention|
|Quality of Life||Prenatal||Increased understanding of ways to improve parental coping mechanisms|
|Postnatal||Studies on prevalence and treatment of sensory disorders and behavioral issues|
|Develop effective therapies to help diminish these behaviors|
|Financial||Determine comprehensive cost of care burdens on families including non-medical and mental health costs|
|Social||Assess social issues and stigmas associated with birth defects and how to minimize negative impact|
|Parenting||Assess benefits of peer-to-peer support for families|
|Encourage social/emotional/psychological support of families in conjunction with social workers or other support staff|
|Resiliency||Determine factors that improve resiliency of parents and the child|
|Start dialogues within the community that normalizes the needs and experiences of children with birth defects|
|Transition||Parent Training||More resources available on raising a child with birth defects post-early childhood|
|Provide access to care trainings through local special needs or disability agencies, hospitals, or community care providers|
|Physician Training||Increased education for specialists on appropriate lifelong care for children with birth defects|
|Studies on loss of care of children as they reach adulthood|
|Empower Children||Educate parents, caregivers, and clinicians on the importance of open discussion while allowing the child to ask questions and have input on decisions|
|Study of parental behavior and its impact on children seeking appropriate care as adults|
|Ensure that insurance companies will pay for therapies and other needed intervention intended to maximize child's potential|
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