Care and Treatment
Is there a cure for Emanuel Syndrome? This is a question that is often asked. Simply put, as Emanuel Syndrome is a chromosomal disorder, there is no “cure”. However, there are many ways to provide care and treatment for individual aspects of Emanuel Syndrome that will help your child live life to the fullest. This page will guide you through care and treatment for individuals diagnosed with Emanuel Syndrome.
- Medical Procedures
- Physical and Occupational Therapy
- Speech and Language Therapy
- Assistive Devices/Medical Equipment
- Music Therapy
- Engaging Your Child in the World – our favorite section filled with photos of our children enjoying life!
- Respite
- Palliative and End of Life Care
Medical Procedures
Considerations for undergoing medical procedures in children and adults with Emanuel Syndrome
Like any person with a developmental disability, people with Emanuel Syndrome may require special attention when undergoing surgery. The most important person to talk to before surgery is the anesthesiologist. This doctor administers medication to induce sleep, and manages his or her airway and fluid balance during and after the surgery. You should be able to tell the doctor if your child has had difficulty with prior surgeries, and make sure they know about any airway anomalies, heart and kidney problems, and allergies.
“My daughter’s airway is so narrow (She has Pierre Robin sequence), that intubation is extremely difficult. We need to have any procedures done far from home, at a hospital that is capable of dealing with her airway concerns.”
As a general rule, any test that requires sedation should be something that you talk to your doctor about. Make sure you and the doctor are aware of any airway concerns or potential negative reactions to sedative medications. Ask the doctor if the results of the test will change the treatment plan.
Many children with Emanuel Syndrome have had very difficult experiences with sedation and intubation for certain medical procedures. This is often due to the airway difficulties associated with clefts or high-arched palates, small jaw, small airways, neurological and cardiovascular system issues, hemodynamic responses to anesthetic agents, and developmental delays.
Our children are “at high anaesthesia risk due to coexisting disorders and anatomical anomalies” (Kilic et al, 2020).
It is important to discuss with your doctors that great care should be taken in this regard. Care should be provided by an experienced pediatric anesthesiologist. Even many of our children who are adults, due to the nature of growth in some, require pediatric-size equipment.
Many people with ES have been diagnosed with narrow airways, palate abnormalities (often in combination with Pierre Robin sequence) and laryngomalacia. Some have had difficulty following extubation with swelling and they have had serious breathing issues. This is a very important concern.
Some of the recommendations made by other doctors in recent literature include:
- Detailed preoperative evaluation including review of airway, craniofacial, cardiovascular, kidney, neurological (spinal cord) and other systems;
- Having an emergency tracheotomy set on hand during intubation;
- Consideration of the type of anesthetic agent used to avoid the risk of agitation or seizures
- Consideration of the type of devices used for intubation.
These journal articles will be helpful to provide to your doctors:
Kilic et al. (2020) Anesthetic management for tethered cord syndrome in a child with Emanuel syndrome. Anaesthesiology.
Nishinarita et al.(2015) Anesthetic management of pediatric patients with Emanuel syndrome. Journal of Anesthesia.
Tsukamoto et al. (2016.) Anesthetic Management of a Patient With Emanuel Syndrome Anesthesia Progress.
Drum et al.(2005) Anaesthesia in a patient with chromosome 11;22 translocation: a case report and literature review. Pediatric Anesthesia.
Here is a good website to prepare you and your child for surgery – from the Hospital for Sick Children.
Physical and Occupational Therapy
Occupational Therapy
Aimee working on her pincer grasp.
Occupational Therapists (OT) work with people to support access to the activities of daily living. This ranges from tasks such as self-care to access to leisure activities education and work.
Nora doing homework, math and learning to write her name!
People with Emanuel syndrome may access an OT for a range of different reasons which may include
:
- Assessment and recommendations about appropriate equipment to support day-to-day care such as bathing and toileting equipment or specialist cutlery.
- Assessment and recommendations regarding specialist seating to promote head control and arm function.
- Exploring options for assistive technologies for example using switches or eye-gaze technologies for environmental control or communication.
- Assessment and support for fine motor skills development, particularly in the arm and hand e.g. writing, typing.
- Working with families, other therapists and professionals (e.g. Speech and Language Therapists, Physiotherapists, Teachers and Social Workers) to develop education and care plans.
- Assessment and support for sensory needs, sensory integration and sensory modulation.
- Support for carers using moving and handling techniques and equipment.
OTs work across a range of services. You may meet through early intervention services, for equipment provision or in school. OTs also provided services that could be privately indeed or covered by insurance. How and where OT services are available will vary from country and country or region to region.
The following organisations may be helpful in finding OT support in your area.
United Kingdom
Royal College of Occupational Therapists https://www.rcot.co.uk/
United States
American Occupational Therapy Association https://www.aota.org/
Canada
Canadian Association of Occupational Therapists https://www.caot.ca/
Physical Therapy
Just like Speech and Occupational Therapy people with ES will need physiotherapy (Physical Therapy/ PT) support at different times and for different reasons during their life.
Some of the ways physiotherapists support people with ES are:
- Assessment of physical abilities and needs.
- Activities to develop physical skills, especially in the early and school years.
- Assessing and providing supportive equipment to aid mobility such as walking frames/ gait trainers, standing frames, orthotics and specialist footwear.
- Monitoring physical health for example hip and spinal alignment.
- Assessing equipment to support posture and physical well-being such as specialist seating/ sleep systems (also called 24-hour postural care).
- Working with other teams such as therapists and surgeons.
- Supporting respiratory wellbeing (chest/ respiratory physio).
Physiotherapists work across different settings and teams. Like all therapies, you may first meet a PT in the early years. Services will be different from region to region and country to country.
To find out more about PT in your region follow the links below:
United Kingdom
The Chartered Society of Physiotherapy https://www.csp.org.uk/
All Physiotherapists in the UK must also be registered with the Health and Care Professions Council. You can check your physiotherapist on the register. https://www.hcpc-uk.org/
Canada
Canadian Physiotherapy Association https://physiotherapy.ca/about-cpa
United States
The American Physical Therapy Association
Worldwide
World Physiotherapy has a register of local organisations in different countries.
Speech and Language Therapy/Pathology
Speech and Language Therapists (SLT) go by lots of names across the world, Speech Language Pathologists, Logopaedie, Phoniatricians. They all have in common that they support people with Speech, Language, Communication, Eating and/ or Drinking Difficulties.
People with Emanuel syndrome may need support from an SLT throughout their life for a number of different reasons and in a number of different ways:
- Assessment of communication.
- Assessment of eating and drinking skills.
- Providing programmes to support and develop communication.
- Providing programmes to support and develop eating and drinking skills.
- Making recommendations for safe eating, drinking and nutrition.
- Supporting the use of Alternative and Augmentative Communication (AAC) in people with no verbal communication or whose speech is hard to understand.
- Working with families, other therapists and professionals (e.g. Occupational Therapists, Physiotherapists, Teachers and Social Workers) to develop education and care plans.
- Training and coaching families and other professionals in how to support communication and eating and drinking.
Speech and Language Therapists work across a lot of different settings. You might first meet an SLT working with babies on feeding skills or in the cleft palate clinic, then in early years provision and later employed by schools or the school district. There are also SLTs who work privately either through direct payment or health insurance. Information about how to find and get in touch with an SLT is below and where and how it’s provided and who pays will vary from country to country and region to region.
Resources about Speech and Language Therapy from around the world:
United Kingdom
‘What is Speech and Language Therapy’ by the Royal College of Speech and Language Therapists.
Canada
‘What do Speech-Language Pathologists do?’ by Speech-Language and Audiology Canada.
United States
‘Who Are Speech Language Pathologists, and What Do They Do?’ by the American Speech-Language-Hearing Association.
Australia
‘Resources for the Public’ by Speech Pathology Australia.
IALP The International Association of Communication Sciences and Disorders has a list of affiliated organisations here where you should be able to get advice about how to access an SLT in your country.
Assistive Devices/Medical Equipment
“Try to find out early the type of equipment your child will need to make his or her life better and start the process of applying for it or getting on waiting lists six months prior to needing it. It takes an extremely long time to get it approved.” (Parent quote from Raising the Goddess of Spring).
What are assistive devices and what types of assistive devices do children with Emanuel syndrome need?
Children with Emanuel syndrome have a variety of needs and there will likely come a time when you may need to obtain something special to support your child.
Some of the more commonly seen assistive devices our children use are:
Mobility and positioning aids
Many of our children use wheelchairs in different forms, walkers, standers, special car seats and adaptive vehicles to help with transportation, vehicle lifts and orthotics, standing frames, special seating and desks, special bath seats and lifts.
Hearing devices
We have children with hearing aids and even a few who have cochlear implants.
Technology
We have some children who are able to use special switches to work computer programs games, or for communication such as using a touch screen to choose words or pictures to help people understand what they need.
Home modifications
If your child requires a wheelchair, your home may need a ramp, or a special lift to assist with lifting to and from a bed or a bathtub.
There are so many devices available now to help those with disabilities that there are almost too many to name here, and these are just a few common examples.
Who will help me assess what is right for my child?
Your child’s own doctor will be a good start for this. They can make referrals to the people you need. You will likely have a physical therapist help support you with mobility aids, an occupational therapist supports you with educational needs, and a speech therapist supports you with communication devices. What you need will of course depend on the nature of your own child’s needs.
How will we pay for the equipment that we need?
This will depend on where you live in the world. In Ontario, for example, there is a program called the Assistive Devices Program that helps fund special equipment. There are also various charity organizations that may offer grants to help pay for things. As the scope of our group is international, it’s impossible to list all the places here, but your child’s therapists can assist you in identifying how to pay for any assistive devices they may need.
What other kinds of things will my child need as he gets older?
Most of our children do not develop independent toileting habits and require briefs and incontinence supplies. There may also financial supports for these depending on where you live. In Ontario, Canada, for example, Easter Seals provides an Incontinence grant. You will need to inquire with your child’s treatment providers about the available financial support where you live.
Music Therapy
Who doesn’t love music? Music is something our children enjoy so much. We can sing together, play music and instruments during play time, or engage them in a more therapeutic way, through music therapy.
Music therapy is an evidence-based therapy. There are so many benefits!
- Improved communication and sensoimotor skills
- Enhanced learning
- Improved attention and expression
- Increased motivation to participate in social interactions
- Fostering relationships
- Improved brain development
- Improved behaviour and positive impacts on mood
- Joy!
Many of our children benefit from music therapy in school settings, but there may be additional music therapy services in your area.
Thank you to Ryan at The Rhythm Tree for letting us share his video here!
“Ryan Judd, MA, MT-BC, www.TheRhythmTree.com.
Has your child benefited from music therapy? We would love to hear your experience, or receive photos or videos to share on our C22C blog.
Links:
American Music Therapy Association
Canadian Association of Music Therapists
Reference:
American Music Therapy Association, Inc. Music Therapy and Special Education Services Brief Update of Published Evidence, June 2021.
https://www.musictherapy.org/assets/1/7/Music_Therapy_and_Special_Education_Research_Update_6-21.pdf
Engaging your child in the world
Kids with ES are, after all, just kids! They love to do what we are doing – get them involved in as many things as you can and see what they love! This is our favourite page – we are showing how much fun our kids have and how much fun we have with them!
Hippotherapy and Therapeutic Riding – did you know there is a difference?
Hippotherapy is more an actual therapy that integrates aspects of physical, occupational and speech therapy. Therapeutic Riding is more horse riding adapted for those with special needs and also has fantastic benefits. Our kids love it!
Swimming
Hanging out at the Playground
Enjoying the Beach
Cooking
Gardening / Farm
Pets / Animals
Biking
Bowling
Graduating
Travelling
Mini Putt
Cinema
Hockey!
Respite Care
If you are caring for a child or adult with exceptional medical or developmental needs, you may need additional support or a break from time to time. Respite care is a way for parents and caregivers to receive this support by having others help support your family member temporarily.
Utilizing respite care can help a parent or caregiver attend to activities outside the home, spend time with other children, recharge, avoid caregiver burnout, and potentially, a crisis. It is not lazy parenting, or shirking your responsibilities. It can be a necessary support for many families and a choice to be proactive to keep you well, so you can keep doing the remarkable job you are doing to care for your family member.
Respite care can be provided within the family home, or outside the home. Depending on available services where you live, there may be agencies that have apartments or people who will provide respite care in their own homes, day programs or programs that offer extended respite services so you can take a vacation. Due to the international nature of our group, it is not possible to list all places here. There may be government funding, local service agencies, or insurance that will help you access this type of care.
For example, in Ontario, Canada, there are government programs that help families pay for such care, and these will be different for children and adults. One such service is Developmental Services Ontario, which supports adults with disabilities.
Families and friends can also help provide informal respite support. Do you have people in our support circle you can turn to for support?
Many of us will be providing high levels of support for many years. While we love our family members, sometimes the break respite offers can help us recharge, help us find balance in our own lives, and give us the needed break to keep providing care to our family members for the long-term. We may not want to recognize that our mental or physical health can be suffering as we support our loved one. Sometimes we have to provide more physical care than a typical parent. We may be developing anxiety or depression. Caregiver burnout is very real and respite care can help you to avoid this. As our children get older, we often worry about how to provide a high level of care long-term. Some of our families have successfully transitioned their adult children into supportive living homes.
Palliative, Hospice and End of Life Care
Children and adults living with Emanuel syndrome may experience serious illness.
There are children born with serious medical issues such as complex heart conditions, congenital diaphragmatic hernias, and medical issues such as poorly functioning kidneys, among other medical problems, that may be life-threatening or life-limiting. Sometimes, even with the best medical intervention, a child with ES may be given a poor prognosis or require intensive medical care.
Palliative Care versus Hospice Care
Palliative care is specialized medical care that can improve the quality of life for a person living with a serious or life-threatening illness by addressing both symptoms and the stress resulting from the illness. It is individualized, family-centred, and mistakenly, often thought of as only end-of-life care. In fact, palliative care can be provided when there are treatments intended to cure an illness. It is care provided by a team of providers, typically within the family home, that helps address not only the person with the illness but the distress the illness may have on the individual and their family.
Hospice care is provided when there are no longer treatments available for the person living with the illness, and the focus moves to the reduction of pain and suffering of the individual. It is also provided by a team of specialists who help a family support an individual through to the end of life.
Read more about palliative and hospice care at Courageous Parents Network.
Having to consider palliative or hospice care is an unimaginable discussion for a parent, but one that is okay to discuss with your medical team. Below are some links to resources.
There are members of our group who have had to make these difficult decisions. You can connect with some of our families by joining our discussion group on Facebook.
Additional Supports and Information
Canadian Network of Palliative Care for Children
Palliative Care Resource from Sickkids Hospital (Ontario)