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.
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.
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 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.