Living with BOS

Living with BOS

Many parents start a conversation with, “I have the most wonderful child but…”. Having a child with Bohring-Opitz Syndrome is an ongoing learning process and can be challenging at times given the complexity of the illness and high infant mortality.  Furthermore, there is still little known about the clinical management of children with Bohring-Opitz Syndrome.

EMOTIONAL IMPACT

In some cases, it may not be apparent that a baby has Bohring-Opitz Syndrome until after they are born. Giving birth can be exciting, scary, and tiring. Finding out that your baby has Bohring-Opitz Syndrome can be unexpected and alarming.

Some families accept their baby’s diagnosis of Bohring-Opitz Syndrome quickly, while others need time to adjust.

If you have recently found out your child has Bohring-Opitz Syndrome, you may feel a range of emotions. It is quite common for parents to feel overwhelmed and/or have negative thoughts after the birth of their new baby. Living with a child with Bohring-Opitz Syndrome may cause fear, anxiety, depression, and stress. Talk about how you feel with your health care team. Talking to a professional counsellor can also help.

There is no right or wrong way to react or feel.  Learning as much as you can about Bohring-Opitz Syndrome,  and how it may affect you and your child’s life is very important.

SUPPORT GROUP

It’s important to remember you’re not alone in your situation. There are people who have experience in supporting and caring for children with Bohring-Opitz Syndrome. Many parents find it reassuring to talk to other parents. The Bohring-Opitz Syndrome support group can put you in touch with another family who can share their experiences with you, offer you advice and talk about any concerns you may have. They can also provide information about all aspects of living with Bohring-Opitz Syndrome.

PROFESSIONAL SUPPORT

A number of different professionals will be involved in caring for your child with Bohring-Opitz Syndrome. They will be able to help you with any of the difficulties you or your child are experiencing.

Currently, there is no cure for Bohring-Opitz Syndrome. However, treatments may improve various symptoms and prevent complications. It is impossible to make a prediction about the life expectancy for a child with Bohring-Opitz Syndrome. Every child is unique and there are different levels and degrees of symptoms.

Children with Bohring-Opitz Syndrome need regular check-ups to monitor their health because more health problems are common in children with this condition.

There is a clear distinction between the care your child will receive immediately following birth and the life long care your child will receive when you are able to take him home.   Children with Bohring-Opitz Syndrome are often immediately admitted to a neonatal intensive care unit to treat life-threatening medical complications at birth.  In this first phase, the acute care phase, the infant is stabilized in the hospital before going home.  The acute care phase is followed by the chronic phase of the disease, in which the child is able to live at home, but regularly receives treatment in the hospital on an outpatient basis. The acute care phase begins at birth and may last anywhere from a few days to a few weeks or months depending on the health of the new born and severity of the complications. The acute phase ends when the child is able to go home for the first time.

The chronic phase of care begins once the child is home and lasts a lifetime. The child’s first check-ups will usually be with a general pediatrician. If your regular doctor spots a potential problem, they should refer you to an appropriate specialist to talk about any treatment or support that may benefit your child.[1]

The health check-ups in the acute and chronic phase may focus on the following:

  • Feeding: Feeding intolerance and cyclic emesis is common.   According to medical literature, many children also require gastrostomy tubes due to aspiration and/or an inability to take adequate calories orally or/and cleft lip/palate. Geneticists recommend that a treatment goal for these feeding difficulties should be to avoid unnecessary hospitalizations and surgery, if emesis can be controlled with alternative feeding strategies and treatment for cyclic vomiting.  Gastric dysmotility related to hypotonia could be considered a cause of chronic emesis.  Genetic literature suggests that feeding difficulties improve with age, which implies that gastrostomy tubes may not be required throughout life.[2]
  • Complex gastroenterology problems: Malrotation and Constipation. The symptoms are often vague and episodic, making the difficult for the parent to express and difficult for the doctor to interpret. It is important for the doctor to realize that these problems can occur in children with Bohring-Opitz Syndrome.
  • Cleft lip/palate: Treatment usually consists of a combination of surgery, speech therapy, and dental correction. This treatment can begin at an age of three months, depending on the medical condition of the child. Cleft lip and palate issue make feeding extra difficult. A cleft lip and palate team can help parents with adaptive  feeding devices and advise with feeding therapy.
  • Respiratory issues: Respiratory infections and reactive airway disease are common in patients with Bohring-Opitz Syndrome. Often care during the early years is centred on the management of multiple severe respiratory infections.  Treatment goals have been noted to include reducing the risk of aspiration and treating possible reactive airway disease with prophylactic inhaled corticosteroids. The occurrence of respiratory infections may improve with age.[3]
  • Heart: Checking for signs of heart problems is important.
  • Wilms tumor: Recent medical literature documents the reasonable need to consider an abdominal ultrasound every 3–4 months in the first 8 years of life for patients with BOS.[4]
  • Vision: High myopia with prominent eyes is a characteristic of children with Bohring-Opitz Syndrome. Regular eye exams with an ophthalmologist (eye specialist) are essential to diagnose and treat eye problems early.
  • Hearing: Often children with Bohring-Opitz have significant hearing loss. Ear infections are common, although many parents report that these are difficult to determine.
  • Urinary tract infections: Some children suffer from recurrent urinary tract infections, and may require prophylactic antibiotic treatment and/or intermittent catheterization to relieve urine retention.
  • Neurology: Brain abnormalities, such as agenesis of corpus callosum and seizures have been noted in children with Bohring-Opitz Syndrome.
  • Sleeping disturbance (Insomnia): Bohring-Opitz children experience insomnia which often has a dramatic effect on families.  Medical literature suggests that the use of Melatonin provides some improvement.  It has also been noted that the treatment of anaemia with ferrous sulphate in some patients has also improved sleep disturbances.  Treatment for obstructive sleep apnea by mandibular distraction and CPAP may be beneficial in some children.[5]
  • Growth: Children with Bohring-Opitz Syndrome are often smaller due intrauterine growth restriction and feeding difficulties. Regular measuring height and weight should be made during the first two years of life, and then annually throughout childhood, and on a regular basis in adulthood. This measurement data should be recorded on the specific growth charts. To date, there is no specific growth chart for children with Bohring-Opitz Syndrome. In 2015 we gave parents and caregivers of children with BOS, who are united in our support group, the opportunity to contribute to an online survey “Growth Charts for Children with Bohring-Opitz Syndrome.” The results you read here: »Growth Charts for Children with Bohring-Opitz Syndrome
  • Skeletal: Annual check-ups with an orthopaedist (bone specialist) may be needed to look for changes in spine and breastbone structures. Scoliosis, due hypotonia, is common in children with Bohring-Opitz Syndrome. Fixed contractions of the upper limbs (BOS-posture[6]) and hip dysplasia need to be monitored.

Each child should have an individual care plan. It is important that the individual care plan is designed to meet the unique needs of the patient.  The plan should be routinely followed, monitored, and adjusted as needed.

PALLIATIVE CARE

Palliative care is any form of medical care or treatment that concentrates on reducing the severity of disease symptoms. It’s goal is to prevent and relieve suffering, as well as improve quality of life for people facing serious, complex illnesses. Palliative care also provides a means of support to the patient’s family. Such care may include respite care, symptom management, and bereavement support. It is important to talk with your medical team to ensure you are aware of and have access to the various services and support networks that are available.

EDUCATION and  EARLY INTERVENTION PROGRAMs

Increasing numbers of children with Bohring-Opitz Syndrome are educated in mainstream nurseries and  schools with support. However, children’s needs vary and some parents feel that a special school will be most suitable for their child.

It might help to visit both mainstream and special needs schools in your local area.  It will be important for you to talk to the staff to learn about how the school will meet your child’s special educational needs.

Most children require an early intervention program, which is a special program that aims to help a child with learning disabilities develop, as well as provide support to the family.  Many of these programs serve children from infancy until the age of three.

An early intervention program may include:

  • Speech and language therapy to help with any problems communicating or feeding,
  • Physiotherapy or Physical therapy, to help with muscle weakness and/or movement difficulties, and
  • Other individual in-home therapy programs, such as vision therapy and infant stimulation.
  • You will be advised about things you can do at home to help your child learn and develop. You may also have the opportunity to find out about your child’s condition and meet other families in similar situations.

Your pediatrician can give you further information about early intervention.

ADAPTING your HOUSE

Be sure to provide a safe environment for your child.  Mobility may become difficult over time and the dependence on parents and caregivers will likely increase to meet everyday needs of the child. It is important to give early thought to how this can be managed.

HELPING YOUR CHILD

Children with Bohring-Opitz Syndrome have a distinctive, strong-willed, and happy personality. They are interactive and curious.

However, it is important to find a balance between “special” activities and the normal things that families do to ensure a child grows up within a happy, loving, and active family environment.

As with all new babies, over time they will need to fit in with what is going on around them and  it is important not to forget the needs of other family members. Not everything you do with your baby needs to be educational or meaningful. Any fun activity with family can be beneficial.

TAKING A BREAK

Caring for someone with a progressive disability is physically and emotionally challenging. Parents will need regular breaks so that they can continue providing care without becoming exhausted. Brothers and sisters also need to have their share of attention and to be taken on outings that may not be feasible with a disabled child.

STRATEGIES THAT WILL HELP

  • Learn what your child needs—you know your child best and will become an expert.
  • Be prepared for a difficult situations so you can react with a thought out plan and not with emotions.
  • Provide your child with as much support as possible
  • Be patient with your child and yourself. Prioritize tasks and focus on the important ones first. Just focusing on today builds a better tomorrow.
  • Enjoy your child. A child with Bohring-Opitz Syndrome will have a life that is different from than most children, but Bohring-Opitz children have delightful personalities and are extremely lovable. They will give you love that is totally unconditional.  They will make you laugh when you think you may never laugh again. Their love is infectious to everyone around them. They communicate with you even when they lose their verbal skills. Their eyes will beguile you, their smiles will entice you, and their spirit will raise yours when you think nothing else can.[7][8]

The Triangle of care

triangle of care

Triangle of care for children with Bohring-Opitz Syndrome

The triangle of care is our vision of how the best care for children with Bohring-Opitz Syndrome can be ensured. The triangle of care is based upon the following important principles:

  • At the top of the triangle of care is the child. Everything revolves around the child.
  • The base is of the triangle is made up of the parents and professionals. The triangle’s foundation consists of medical professionals working cohesively and in cooperation with the parents for the interest of the triangle’s top, the child.
  • The ideal triangle of care is equilateral and perfectly balanced when each corner has an equal contribution.
  • The triangle of care has three goals.  Parents and professionals work together to attain the highest level of quality of life for the child.  The connection between child and professional includes the expert knowledge of the parent when designing the long term plan of care.   In turn, the professional understands the child, and he/she can help the parent understand and support the child.  Lastly, the parent and the child provide the basis for the professional to raise more knowledge about Bohring-Opitz Syndrome by doing research from which all benefit.
  • Located in the centre of this triangle, behind the child, the parent and the professional, is the case manager.  The case manager should help establish and ensure the equilateral triangle of care, by connecting all three participants.
  • The triangle of care is a jigsaw puzzle. It fits in and is part of the society.


The material and content on Bohring-Opitz Syndrome – A worldwide exchange of information and awareness is for information only and not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.


[1] Ildiko Vajda en Sonja Bracke: Zorgstandaard voor het Marshall Smith Syndroom, MSS Research Foundation 2014.
http://marshallsmith.org/images/stories/research/zs2014.pdf ( August 13 2015)

[2] Russell B, Johnston JJ, Biesecker LG, Kramer N, Pickart A, Rhead W, Tan W-H, Brownstein CA, Kate Clarkson L, Dobson A, Rosenberg AZ, Schrier Vergano SA, Helm BM, Harrison RE, GrahamJr. JM. 2015. Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance. Am J Med Genet Part A 9999A:1–10.

[3] Ibid.

[4] Ibid.

[5] Ibid.

[6] BOS posture of the upper limps (defined as having three out of four features: exorotation and/or adduction of the shoulders; flexion at the elbows; flexion at the wrists; and ulnar deviation of the wrists and/or fingers at the metacarpophalangeal (MCP) joints) (Hasting et al. 2011)

[7] AANE.org (09-2015)

[8] NHS choices – Down’s syndrome (09/2015)

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