Introduction 

Families who have children living with Floating Harbour Syndrome can face tremendous emotional and psychological stressors, as the condition can introduce complications to the health and overall well-being of the child. The necessary and adequate care of the child can therefore impact on the emotional, psychological, and financial health of the family. 

In this article, we look at what Floating Harbour Syndrome is and why it can occur. We then look at how it can be treated, and what difficulties the disorder and its subsequent treatment can pose to families. We finish by examining some strategies to help families cope with these stressors more effectively. 

What is Floating Harbour Syndrome? Floating Harbour Syndrome (FHS) is a rare genetic disorder characterised by a distinct combination of physical, developmental, and behavioural features. The syndrome was first described in the medical literature in the early 1970s, named after the hospitals where the initial cases were identified: the Floating Hospital for Children in Boston and Harbor General Hospital in California.

The gene for FHS was only found in 2012, and there are only approximately 100 recorded cases. As genetic testing becomes more frequent and widespread, there are likely to be more diagnoses of FHS made in the future, in both children and adults. This will help us understand the condition more intricately and therefore help to develop better treatments and coping strategies over time.

Key characteristics of Floating Harbour Syndrome

Physical features

Short stature

Individuals with FHS typically have a significantly shorter height compared to their peers. Average adult height is around 140-155cm. 

Facial anomalies

Common facial characteristics include a triangular face, deep-set eyes, a prominent nose, a wide mouth, and a thin upper lip. There can be minor vision problems present. Dental problems, especially having small teeth, can be common. 

Bodily/Skeletal abnormalities

These can include delayed bone age and other skeletal irregularities. Genital abnormalities are common, and early puberty may occur. Minor hand abnormalities may also be present, but rarely pose medical issues.^1,2

Developmental and cognitive delays

Speech and language delays

Children with FHS often experience significant delays in speech and language development. Some may never be able to verbally communicate, or face extreme challenges in this area. 

Cognitive impairments

Intellectual disability can range from mild to moderate, affecting learning and developmental milestones.

Motor skills delays

Both fine and gross motor skills may be delayed. However, most children do not usually exhibit delayed movement like crawling or walking.^1,2

Behavioral traits

Attention deficits

Many children with FHS exhibit symptoms of attention-deficit/hyperactivity disorder (ADHD).

Behavioral challenges

These can include hyperactivity, impulsivity, and social difficulties.^1,2

What causes Floating Harbour Syndrome? 

FHS is caused by mutations in the SRCAP gene. Genes are instructions that have important roles in our growth and development. Our genes code for the proteins/ characteristics that we have. They are made of DNA and are packaged into structures called chromosomes. 

Floating-Harbor syndrome is caused by an alteration (mutation) in the SRCAP gene, which means that the gene does not function correctly. The SRCAP gene is on chromosome 16 within a band called p11.2. 

The SRCAP gene is important in regulating cell growth and division and is important for normal development. An individual will inherit one copy of the gene from their mother and one from their father. An individual only needs to have one altered copy of the SRCAP gene to be affected by Floating-Harbor syndrome. This is known as ‘autosomal dominant inheritance’.

Diagnosis is primarily based on clinical features and can be confirmed through genetic testing to identify mutations in the SRCAP gene.

How is FHS treated?

There is no cure for FHS, but management focuses on addressing the individual symptoms and improving quality of life. This often involves a multidisciplinary approach including:

Regular monitoring

For growth, development, and any emerging health issues. Parents, carers, and teachers, as well as doctors and medical teams, can all help in the monitoring and observation of how FHS is presenting in the child. 

Educational support

Individualised education plans (IEPs) to address learning and developmental needs. The child may need to attend a specialised school or have separate tutoring to ensure that they are receiving proper schooling to the same level as their peers. 

Speech and occupational therapy

To improve communication skills and motor functions. Speech and verbal communication are usually heavily affected by FHS, and so this therapy plays a large role in treatment. 

Behavioral interventions

To manage ADHD and other behavioural challenges. This can also help the individual improve their social skills and therefore strengthen relationships.³

What challenges does FSH pose to families? 

Families with children diagnosed with Floating Harbour Syndrome (FHS) face a range of psychosocial challenges due to the unique and complex nature of the condition. These challenges can affect various aspects of family life, including emotional well-being, social interactions, and family dynamics. 

It is worth noting that these impacts will vary from family to family depending on relationships and other living factors. Families in different localities and with different socioeconomic statuses can face disparities in accessing resources and treatment, too.

Some prominent impacts include: 

Emotional Impact

Parental stress and anxiety

Parents often experience significant stress and anxiety related to their child's health, development, and future prospects. The ongoing need for medical appointments, therapies, and educational support can be overwhelming. Parents may struggle with managing these extra and unanticipated responsibilities. The lack of existing research and guidance makes managing this condition arguably more difficult than other illnesses. In families where children have chronic illnesses, poorer parental mental health has been observed, likely due to the constant emotional tolls and responsibility of being the primary caregiver. 

Grief and adjustment

Families may go through a grieving process as they adjust to the diagnosis and the reality that their child's life will be different from what they had anticipated. They may feel upset and aggrieved that their child may not thrive in areas in which they anticipated, or they may feel angry that their child must face barriers that others do not. They can also worry about their child’s future and independence when they themselves are no longer able to care for their child to the same degree. 

Sibling emotional challenges

Siblings may feel neglected or burdened by additional responsibilities and may experience feelings of jealousy, guilt, or frustration.⁴

Social isolation and stigma

Isolation

Families might feel isolated due to the rarity of FHS, leading to difficulties in finding others who understand their experiences. Social activities can become challenging due to the child's needs. They may also feel judged by other families or parents on their decisions. 

Stigmatisation

Public misunderstanding or ignorance about FHS can lead to stigmatisation, making social interactions uncomfortable or distressing for the family. The child could face torment or teasing at school for their differences from their peers, which can be distressing for families to cope with, as well as the child themselves. 

Family dynamics and relationships

Changes in family roles

The caregiving demands of a child with FHS often require a reallocation of family roles, with one parent potentially needing to reduce work hours or leave employment to provide care. This can lead to frustration and uncomfortable negotiations or discussions. It can also feel as though the burden of care is being unequally distributed, which can cause tension.

Impact on marital relationships

The stress of managing a child's condition can strain marital relationships, potentially leading to conflicts or decreased intimacy.

Sibling relationships

Siblings may experience changes in their relationship dynamics, with some taking on caretaking roles or feeling overshadowed by the needs of the sibling with FHS. This can create a lasting impact - the sibling may feel neglected, or feel that they must take on the care of their unwell sibling, both now and throughout later life. This can cause a lot of pressure and possibly resentment.⁴

Communication challenges

Discussing the condition

Families may struggle with how to explain FHS to the affected child, siblings, extended family, and friends. The disease is rare, and so accessing information to give to those around them can be difficult. People may not understand as they have no lived experience of the condition, and therefore they may not recognise the challenges it poses. 

Navigating conversations

Addressing questions and concerns from others about the child's condition can be emotionally taxing. This can be especially taxing over time, as the family may have to explain the condition repeatedly and face the same misconceptions time and time again. 

Access to resources and support

Medical and therapeutic support

Finding and accessing specialised medical care, therapies, and educational support can be challenging and time-consuming. There may be a lack of support in the area, which means that travel costs and time have to be factored into day-to-day living arrangements. It also may mean that the child goes with care less often, which again can cause guilt and emotional worry. 

Financial strain

The costs associated with medical care, therapies, and adaptive equipment can be significant, leading to financial stress. Insurance worries for private care can be difficult to navigate. There may have to be financial compromises in other areas of life to optimise the child’s care. 

Educational challenges

Ensuring appropriate educational accommodations and support for the child can be a complex and ongoing process, requiring advocacy and negotiation with schools. The child might have to move schools multiple times or have additional schooling. 

Coping strategies and support systems

Building resilience

Psychological coping mechanisms

Families can benefit from developing coping strategies such as mindfulness, stress management techniques, and maintaining a positive outlook. These can be developed through therapy sessions and by effective communication strategies. Planning events or outings ahead of time and anticipating challenges can be helpful in easing worries and stressful situations later down the line. 

Strengthening family bonds

Engaging in family activities and maintaining open communication can help strengthen relationships and provide mutual support.

Professional interventions

Counselling and psychotherapy

Professional counselling can help family members process their emotions, improve communication, and develop coping strategies.

Support from social workers

Social workers can assist families in navigating healthcare systems, accessing resources, and providing emotional support. This can be vital when the burden of care feels increasingly heavy for the family. 

Family therapy

Family therapy can address dynamics and relationships, fostering better understanding and cooperation among family members. It can also provide a space to voice concerns, grievances, and work through challenging scenarios that may arise in the future.⁴

Community and peer support

Support groups

Joining support groups for families with children with rare genetic disorders can provide a sense of community, shared experiences, and practical advice. With FHS specifically, support groups may be less accessible and less common because the disease is very rare. Nevertheless, healthcare providers are often aware of local, regional, or online support groups and can direct families to these forms of support. 

Community organizations

Involvement with organisations that support individuals with genetic disorders can provide resources, advocacy, and a network of support. It can also help raise general awareness in the community and, therefore, reduce stigma and ignorance. Even connecting with families who may not have FSH specifically, but have similar difficulties around childcare, stigma, and chronic illness, may be very helpful for families.⁴

Summary

FSH is a rare disorder that can cause a plethora of psychosocial difficulties for families, including emotional stress, financial burdens, societal stigma, mental exhaustion, and challenges to traditional family dynamics. 

By addressing these psychosocial challenges through a combination of professional support, community resources, and family resilience strategies, families can better navigate the complexities of living with Floating Harbour Syndrome and improve their overall well-being.