Jacobsen Syndrome – new survey hopes to address parent concerns about lifestyle and social options

Jacobsen syndrome (JS) or distal 11q deletion syndrome is a rare genetic disorder. The symptoms of this disorder involve thrombocytopenia, congenital heart defects, and intellectual disability. Although less common, other symptoms may include impairment of expressive language (verbal and nonverbal communication), vision problems, digestive issues, and infections of the upper respiratory system.

Due to the rarity of Jacobsen syndrome, there are not many resources for parents to reference when they have or are expecting a child with this disorder. Research from other disorders (particularly, Down Syndrome) shows that parents want information on lifestyle outcomes and social support along with the physical issues associated with the disorder. Using a survey crafted by the authors (and inspired by the research of Dr. Brian Skotko), this study hopes to provide the answers to some of these social questions.

The survey consisted of the 5-page questionnaire for parents and guardians, which measured parental viewpoints on their child’s health conditions and educational issues. Parents with children with no major health concerns were also surveyed, so the results could be compared. Since there is no national registry for individuals with this disease, the survey was distributed to approximately 1,000 families through the “11q Research and Resource” advocacy group, and two Facebook support groups.

The results point to mostly positive outcomes. All parents included in the survey say that they love their child with JS. Regardless of the level of disability, most of the parents stated that they are proud of their child. Many also report that their outlook on life has been more positive thanks to their child with JS. While many parents report that their child feels frustrated by the additional challenges in their life, they also agree that their child has a happy life overall. In terms of sibling relationships, many parents agree that brothers and sisters are more caring because of their sibling with JS. Parent support groups are helpful resources for the parents. When asked to give advice, many parents stressed being positive and patient.

As mentioned above, research indicates that families want information about support services and life outcomes for individuals with a particular disorder. The results above provide some of the answers to the questions about the expectations for a child with JS. The article concludes by summarizing the results found by the study, while stressing the need for advocacy, to connect more parents with the support systems they desire.

From the Human Development Institute Spring 2017