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.

BOS 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]

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.

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. ( 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] (09-2015)

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