What is the life
expectancy for a person with Emanuel Syndrome?
This is one question often asked by new families. It is not
an easy question to answer, but it often will have to do with
what kinds of medical issues your child may face. It is true
that some of our children have passed away in early life or even
before they were born, especially if they faced life-threatening
medical issues.
We cannot predict how long your child may live, but we can
state that we are aware of people who have Emanuel Syndrome who
are in early and mid-adulthood. The oldest person that we know
about was in their mid-40s. We have several adults in our group.
Based on the fact that genetic testing was not very common many
years ago, it is impossible for us to say that there are no
older cases that we may not be aware of.
Why are some
children differently affected than others, both medically and
developmentally?
It is not yet possible for us to know why some children will
present with certain medical problems or birth defects, while
others do not, or why some will learn to speak and walk, and
others not. As with any syndrome, or even just people in
general, there is a wide spectrum. Most people will fall
somewhere in the middle. There will be some that do very well,
and others, not so well. Just like in our society – we have some
people who can be exceptionally gifted and others with learning
disabilities, even with a normal compliment of chromosomes.
The majority
of our children do not reach a normal adult height and weight.
Many are on the lowest end of the spectrum for both height and
weight typical for their age. Some of the children may have
small, underdeveloped feet and hands. Many of our children at
some point have been given the label “failure to thrive”. Past
medical reports on Emanuel Syndrome have suggested that bone
growth in our children is delayed.
Developmental issues
Every child
with Emanuel Syndrome will have global delays. Some parents have
asked us what causes our children to have developmental and
speech delays. This is due to the extra genes our children
carry. It affects the normal development of the brain, and this
affects every area of development.
The first area of developmental delay that parents
typically notice is in the area of gross motor skills – the
process of learning to sit, stand and walk independently.
Fine motor
and self-help skills are also significantly delayed in the
majority of our children. Most
children require help for dressing and feeding, beyond the age
when they are infants. About 40% of children at a
developmentally appropriate age were able to use a spoon or fork
appropriately.
About half
of our children are incontinent. About 20% are fully or
partially toilet trained. Some of our children are toilet
regulated – which means they are taken to the bathroom at
regular intervals.
Puberty
In the
majority of girls with ES, menstruation does occur. This has
happened anywhere from age 9 to 18. There have been some reports
of girls who reached adulthood and did not have any
menstruation.
Some parents
have asked whether our children will be able to grow up to have
children of their own. We do not know that this is possible.
People with Emanuel Syndrome will not likely have the cognitive
ability to be a parent and it is considered unlikely that they
could reproduce.
Behaviour
Behaviour
problems are not very common in our children. Only a small
percentage has been reported to have anxiety issues, screaming
or self-harm. Some of the children have required medication to
treat these issues. Some children have exhibited
self-stimulating behaviours such as rocking.
Will my child learn
to talk?
It is an unfortunate reality that the majority of children
(almost 80%) with Emanuel Syndrome do not develop any speech at
all. This is a very hard thing for parents to learn. However,
there are a few children and adults in our group who have
developed speech, and some can even speak in sentences. This is
not the norm for children with ES, but it certainly does give
parents hope for the possibility!
It will be important for parents to explore other options for
their children to be able to express themselves. Some children
have found success in using sign language, electronic devices,
or a system called Picture Exchange Communication. When your
child reaches an age where they would normally be expected to
talk, you will want to speak to a speech therapist, who will
help you decide on other ways to help your child learn to
communicate. Most parents feel that their children have a good
understanding of what is being said to them, despite not being
able to express themselves in words.
Will my child learn
to walk?
The majority of children with ES do learn to walk, but the
age at which they achieve this may be delayed. Most of our
children are able to learn to walk with assistance (using a
walker), or independently. Of those who use walker, they are
usually around age 5. There have been some children who did
learn to walk independently even earlier than this, though it is
not typical of the majority of our children.
For some of the children who do not learn to walk, or who are
able to walk with support but still have limited mobility, you
will likely at some point require a wheelchair, or specialized
stroller. This doesn’t mean your child has to use it exclusively
– but for longer trips it can be helpful so he doesn’t tire out,
or fall and injure himself. The idea is to maximize your child’s
experiences, not to admit defeat!
It is hard to look into the future, but there may be a time
when you need to make home modifications, such as adding a
wheelchair ramp if your child does not learn to walk well, or
making a larger bathroom to accommodate a bathtub lift. You may
need to modify a vehicle to accommodate a wheelchair or special
seating arrangement. These are concerns we will mention briefly,
only for the purpose of financial planning. Some of the parents
wished they had thought about those things sooner and thought it
was worth mentioning in this booklet, so families would be able
to plan better when moving homes, or to save money for equipment
that might not be covered. Some of our families have thrown
fundraisers to raise money for modified vehicles or home
renovations. Depending on which country or state you live in,
some financial grants may be available for these things. When
and if you need this, your child’s therapist will be able to
point you in the right direction.