Life Stages

This page will cover Life Stages of Individuals with Emanuel Syndrome and some of the challenges you may encounter.

Newborn

What to expect in the newborn stage

“If your baby has a NICU stay, GET A SOCIAL WORKER! Find out about all the available services and have them place the 0-3 referrals. It will save a lot of research and time after you get out of the hospital. The first years are incredibly hard. Birth to two years old was the hardest and a lot of it was spent in survival mode. Give yourself, your partner, and your family a lot of grace. My son had an 8-week NICU stay, 17 doctors for follow-ups, and 9 surgeries in his first 18 months of life. As hard as it was, there was still so much joy! The firsts are different, but they are so much richer! You learn to appreciate all the small stuff and in those “small things” find so much more to be grateful for.”

This stage is going to be one of learning for you as a parent, and one where you begin to assess, along with your doctor/pediatrician, what issues your child may have. You may experience some anxiety as you begin to let the diagnosis sink in, and as you learn about challenges your child may face.

It is common for many of our children to not go home from the hospital immediately after birth, and some of our children face some medical issues that require extended hospitalizations.

NICU

Some of the most common reasons our children have been kept in the hospital following birth were complications related to hypotonia, problems with feeding, requiring surgery to correct things such as heart defects or hernias, requiring oxygen therapy, or treatment for jaundice.

Other problems that have been seen include seizures, infection, or problems with breathing due to a narrower than usual airway, often in combination with the condition Pierre Robin sequence – a condition in which the tongue is displaced towards the back of the throat, along with a smaller receded chin and a cleft palate. Please visit – Craniofacial – Emanuel Syndrome for more information.

Despite the fact that some of our children have had difficulties with feeding after birth, some mothers have successfully breastfed their children.

“We did not get my daughter’s diagnosis until she was almost 7 months old and because of that had a slightly different experience than some other families in that we didn’t have doctors telling us what our child would not be able to do. When she was in the NICU for the first week of hier life and was having trouble latching on for breastfeeding we were told that it was simply because she had a high arched palate and to keep trying. Because of this I struggled with my daughter for one month trying to train her to latch on properly. For fifteen minutes prior to feeding her with a bottleI would put her on my breast alsmost every time she ate. It was a long and frustrating battle as I thought I was making my daughter associate feeding with negativity because she would cry the entire time before giving her the bottle. We had some successes early on, maybe once every few days, she would latch on for an entire feeding, but them we would go back to fighting with her. That being said, miraculously at a few days after her one month birthday she figured it out and from that point until her 9 month birthday I was able to breastfeed my daughter. I am thankful because I did not have people discouraging me because I might have given up. I know that many of our children have feeding issues and that for the ones that are tube-fed or have sensory issues this may not be an option, but for others I would say to go with what feels right to you as a parent because each of our children is different and you never know what your child’s accomplishments might be.”

The newborn stage is the time when you will have assessments done to rule out some of the common issues children with Emanuel Syndrome have. Download our infographic of the common areas that require evaluation and hand it out to people involved with your child. Keep a copy with you when you visit specialists. Link to Emanuel Syndrome Infographic.

This is also the time when you get to learn how to care for your child:

You may be adjusting to new ways of feeding your baby such as learning to use a cleft bottle, or gavage feeding;
Some of our children have left the hospital with medical issues that require equipment, such as apnea or heart monitors, which you may need time to adjust to;
You will want to learn what you can about your child’s diagnosis so that you can help others learn about your child, too.
You will also have a lot to process. Please see Receiving the Diagnosis page to see how some other parents have adjusted.

Taylar and her daughter, Stella

Connecting with our families may help you through this early stage. Learning all you can will help empower you to be prepared for things to come. Believe it or not, you are going to become a very strong advocate for your child.

We are glad you found us, and we are all here for you. Join the Emanuel Syndrome Support Group for Families and Caregivers

Kaysen as a newborn

First Year and Early Infancy – Life Stages

“Oh my gosh, it’s SO hard! Appointments, so many appointments. Diagnosis after diagnosis. If you have a support system lean on them. Take time for yourself to heal from all of the emotional stuff that you go through – seeing your baby so sick. Get involved in any therapy that you can as soon as possible. There will be so many struggles but celebrate every single win. For me, it was so hard seeing all of our friends with typically developing kids hitting all their milestones, and just feeling like we never hit one. Feeding is still our biggest challenge. Learn to advocate hard for your baby. No one will be able to understand your child more than you. Take notes of everything, take videos of anything that worries you. Try not to worry so much about the ‘what could happen’ and take things day by day.”

In this first year, one of the more common things our babies face is issues with feeding. They may not be eating well, be able to breastfeed or may require a special bottle if they are cleft affected, or require to be tube fed. As your baby grows, there may be more concerns about specially preparing foods if your baby has challenges with feeding and digestion (which could include issues with swallowing, smaller airways, risk of choking, reflux and constipation, which are all very common in our children.)

Children with Emanuel Syndrome typically develop slower than babies who do not have Emanuel Syndrome (especially if they have hypotonia, or weak muscle tone), but you may expect:

During this year, most babies with Emanuel Syndrome learn to hold their head up (average by 8 months) and smile (as early as 2-4 months).
Your child may learn to sit during these years. Most kids with Emanuel Syndrome sit independently between 13-36 months.
Children with Emanuel Syndrome may learn to stand between the ages of 2 and 4.
Only a small number of children with Emanuel Syndrome will be able to start learning to walk with support during these years, but most of our kids do learn to walk, at least with some support, but a bit later on (Carter et al., 2009).

Communication

This will be a time when you begin to start learning alternative communication methods. (Visit our Care and Treatment Page where we cover Speech Therapy) You will find that you have a lot of appointments, and become very busy attending therapies or medical appointments.

Growth

You may still be exploring medical concerns and seeing the doctor regularly to watch for growth, issues with feeding and digestion, and further tests to rule out any significant issues. See our infographic which you can take to the doctor – Emanuel Syndrome Infographic

You will likely:

Undergo hearing and vision screens, and get vaccinations.
Get referred to various therapists to ensure you do all you can to maximize your child’s development (physiotherapy, speech, occupational therapy, music therapy and others)
Become involved with an early intervention specialist who can help you learn how to stimulate your baby physically and mentally.
Begin work with a physiotherapist, especially if your baby has hypotonia (weak muscle tone).

Learn more about early intervention from the CDC

Our Care and Treatment Page is a great resource with valuable information.

“When they are babies and they are born not how you envisioned that is devastating. It’s ok to feel those feelings. I also personally felt a lot of guilt that it was my fault I made a “messed up” baby because my genes are messed up. The appointments and unknown are very overwhelming. However, those snuggles quiet times with just you and baby probably in the middle of the night are totally worth it all. My daughter is 13 and I feel like even 13 years later there is so much more information and connection than there was before. Lean on a support group like ours or whomever you can relate to.”

As parents, it is going to be a gradual acceptance of the new normal and becoming in tune with your child and what they need. The one thing that you will become is the expert on your child, be able to sense when things are off, and learn to use your instincts. Always listen to them. Your gut instincts are what will be developing and turning you into a strong advocate for your child.

“Our daughter was a year old when we received the diagnosis of ES. It took us a while to go through the various stages of grief and loss. As parents, ensure you reach out for your own support so that you do not get lost in the overwhelming amount of medical appointments for your child and the day-to-day challenges. Attending counselling and being temporarily on an anti-anxiety medication was so important for my own well-being. I remember my therapist saying, “You need to take care of yourself first and then take care of your child.” At first, I thought this therapist was completely wrong; how on earth could I put myself first over my child with such extraordinary needs, but once I realized that if I were healthy mentally/physically, I could conquer what each day threw our way. There is no shame in assessing supports for mental health.”

Your family and friends will be learning about your child, too. It may be an emotional first few months. You will be continuing to learn about Emanuel Syndrome and may choose to make connections with other parents.

For some of our children and their families, these early years may start out still feeling overwhelming, but gradually, you begin to feel more stable, and you start to really see your child’s personality.

“The first two years were a lot to take in for us. Learning about a diagnosis that most doctors have never heard of and coming to an acceptance of how things will be different was hard. He had so many appointments close together in the first couple of years. It made it hard. They’re all spread out more now so it’s easier. You start to get into a new routine – your new normal.”

It will be important to try to take time for yourself once in a while so that you can be strong and not get too overwhelmed.

Some of our parents wanted to share:

“I feel like I have so much to say on this. Not just for children with Emanuel syndrome, but for babies not born typically developing. There is just no support or insight into what to expect or ‘now what?’ when the baby arrives. It’s terrifying. They are so vulnerable. You want to wrap them in a big bubble and keep everyone out. Well, my daughter was born during COVID-19 lockdown, in the height of the pandemic. There are so many health professionals to keep track of and expect you to match their pace and be an expert on your kid from day one. Get a diary. I use a day a week one, just to record conversations, write down weight or times of unusual behaviour. Keep your medical reports together. Keep calm. TRUST YOUR GUT. Also, trust this group. Your kid is not a medical diagnosis. S/he is a baby, that needs love and cuddles and stories and play and walks with the dog and baking and cheering on their siblings and putting on fun costumes and making a mess and wearing the cute outfit… Just like every other baby. When we aren’t doing those hard stints in the hospital or in therapy, we’re doing the regular family stuff. I think that’s the bit I needed to hear at the start. The baby part still happens! It’s tough seeing other toddlers toddle by. Say words. ‘participate’ more. But our kids teach us to listen harder, observe more closely. Celebrate the small stuff.”

How was I feeling? Scared. Mad. Frustrated. So many doctors, so many specialists and it seemed like every one of them just saw her as a number or an anomaly, and only cared about what milestones or growth chart she was failing at. But when she was 9 months old I finally had a specialist say to me “she’s going to be exactly who she’s supposed to be” and finally I believed it.”

“We were completely out of our element at this age and because we did not have a diagnosis we still felt he would “grow out of it”. Regardless, I did everything…home therapy, water therapy, feeding therapy….there’s no shame in therapies!! Do them all, find what works. Also, start working with low tech or high tech AAC options – PECS are great!”

“Overwhelmed is what I think of. So much to absorb and figure out medically, mentally and financially. Every state is different so look on your Dept of Disabilities website or special needs groups, hospital social workers or our ES family. Achievements will be slow but celebrated no matter how big or small. You will learn from them what their needs are by every sound, facial expression, cry and movement. They will teach you something you never knew was possible or inside of you. You will be their biggest advocate.”

“Exhausted and tired of being in the hospital. My daughter was in the hospital for most of her first 3 years. I would tell new parents to hang in there. Stay strong. Be your child’s voice. And most importantly, it will get better.”

“I love it when my child learns a new skill. Her milestones take much longer to achieve but I believe your hard work does pay off. Make sure your therapist believes in your child and continues to work with them. If you don’t feel your child is getting the very best care, don’t feel bad about being their advocate.”

While all children with Emanuel Syndrome will have delayed development, it is important to remember that even two children with the same diagnosis can develop at different rates. You may find it hard not to compare your child to others who do not have Emanuel Syndrome as you begin to notice that they do not always meet the milestones set out in all the baby guides. Don’t forget to just ignore all that and enjoy your child.

Your child will benefit from going to playgroups and being as engaged as they can be in the world around them, exposing them to different sights, sounds, textures, people, animals, and places. The first three years are very important developmental years!

We know the first year can sometimes feel overwhelming. Please reach out to us during this time – we have all been there!

School Years – Life Stages

The school years can be exciting but a bit daunting for parents of children with Emanuel Syndrome. There are so many considerations as our children go from ages 3-18.

School

Will you homeschool or send them? Drive them or send them on the bus? Do they have medical concerns that require them to need extra care at school? Your child is going to need an Individualized Education Program or IEP. Learn more about IEPs – Center for Parent Information and Resources

Therapies

Speech and language, physio and occupational and music therapies. These will be continuing and likely happen within the school setting.

Increasing support needs

As our children grow, not all of them will be on target developmentally for mobility, and we often need to provide more physical support. We may need to start thinking about mobility supports such as wheelchairs and walkers if you haven’t already, or home modifications like ramps or home lifts.

Our children will also start to grow out of the diaper sizes they sell in the baby section, and we need to start looking at where we can access briefs that will fit. Talk to your child’s primary care physician as some states will provide diapers through a state funded program.

Advocacy

Now that your child is also in the school system, you are going to likely become or learn strong advocacy skills. Please visit – Advocacy and Becoming Your Childs Advocate

As our children get older, you will start to really notice the differences in typical development from their peers. This may be hard on our hearts, and if your child has mobility issues, our bodies as well. We may also begin to start to feel the need to seek out respite care. We cover Respite Care here – Care and Treatment

These years will be the time you may start to see your child make attempts at walking, especially as they begin or progress with therapies. Our children typically:

Walk with support between 37-48 months of age
Walk unsupported 97-150 months

Carter et. al., 2009

Here are some words shared by group members:

“From ages 4-present….things have been a roller coaster ride….but for my daughter mostly good…..she loves school, her friends, teachers, and aides…..we are really lucky to have such an awesome school to send her to…..she really loves to show us all that she knows……there are a lot of difficult things and one of the biggest headaches for us is lack of after school care…..we are fortunate we have found somebody that works within our schedule who will watch her after school….but if our sitter has something come up (sick, family emergency, or anything else) I need to take a half sick day (which are very few now because of Omicron)…..on Long Island there are literally ZERO after-school programs for children with special needs and with both of us working full time (my wife a teacher, me 9-5) and our options are having her go to a place that does not have qualified/appropriate level of care she needs or we are on our own to find somebody” – a Dad

“School age years are also tough when you see all the “normal kids” hitting all those milestones that yours may never hit. But watching them achieve their own goals is extremely rewarding. We were lucky we had a very small elementary school so almost all the kids embraced my daughter. They did an entire school assembly on 11/22 (Emanuel Syndrome Awareness) Day to explain her syndrome and just how rare she is. So getting school or therapy involved at making sure she was still involved was important to us. Don’t ever be afraid to advocate for your kid; in school, therapy, doctor offices – you know them way better than any of those people. Listen to your gut or mom spidey senses. It’s ok to have people think you are loud or pushy. They need you to be that so they can succeed because they will have to work so much harder. Never be afraid to ask for help.”

“Big events like prom and graduation can be scary and sad. Luckily our school was fairly small so the girls (twins with ES) were invited to everything, but when you look around at the typical kids it makes it bittersweet. Thinking about what your kids should be doing but won’t.”

“[My son] is 6 years old and sometimes it’s like the hurt is deeper at times when there younger there baby like and when you really start to see the differences and the kids joining sports and just there typical day at school and how your kids day looks totally different. Just had a IEP meeting and they talked about for 1 st grade what’s going to fit [my son] more, as it will be more academic then being in Kindergarten and what won’t fit. It’s exciting hearing and seeing all his strengths and milestones but still sad at times not all the time. Definitely have your moments sometimes lonesome feeling. Our small school try’s to do pretty good so far they have been.”

[My son] is 11 and he is definitely more interactive with people than he was before. He knows when I’m telling a story about him, and giggles. I do notice how behind he is developmentally. I try to just remember that he is at his own stage. The difficult thing for us is finding people to watch him. My sitters from before have a hard time lifting him. Needing a break is so important and very depressing if not able to get.”

“[My son] attended public school from age 3 to 21. He had multiple different teachers until the last 7 years. He had the same teacher for those years, my best friend and his second mother. Our experience is not the norm. He participated in the graduation ceremony wearing the gown (refused the cap). His teacher walked with him.”

“We are in the early stages of this and so far, it is the start of a marathon- an ultra marathon! The 0-3 years in our area were incredible! So much support, in-home therapies and a great preschool with more great teachers and therapists. [My son] is 6 now and in kindergarten. Turns out the school districts in our area are very anti-inclusion. They have a strategy of pushing special needs kids whose needs are more than mild into “county” schools. Away from our community and less socialization with typical peers. The gap of course is widening between james and his peers, but they are all still young enough to see james as james. It’s been beautiful to see their interactions. But, it will be a fight to keep him in his neighborhood school. It’s very stressful to have to fight for your child’s basic rights. Pick your battles, but never give up!”

[My daughter’s] teachers, aides and therapists were all good. She usually had the same teacher for primary, middle and high school. She was in a contained class but always included in art, music, gym and lunch. Typical kids were always in the class helping. Take advantage of all the OT/PT/Speech etc that you could get and include it all in the IEP. Once they graduate it’s harder to get. Get on a waiver so when graduation comes you can transition to adult programs. We didn’t have many issues because she was so small and cute and received lots of attention. We had an incident where she was made fun of by a student and that student had to spend a week in her class on their lunch to get to know her. It was a great learning lesson for that student. We used a communication book so I knew how her day was, if she had any issues etc. The hardest thing is her not being able to communicate her day or hoping she learns a new skill or realizing it may never happen but excited when you see a new learned skill or improvement. {My daughter] graduated at 21 with her class also. It was very emotional for all of us.

Our group members will be here to help support you and share what has worked for them, and also share in some of the joys and accomplishments that your child will experience during this formative stage.

Transition to Adulthood – Life Stages

Moving into adulthood, when your child is not able to be independent, can seem overwhelming. Many of the supports that are in place for children, such as school, therapies, recreational activities, respite services and case management, and especially, access to pediatricians and children’s hospitals, end abruptly as our children age out of services. Our children are legally adults, but their needs have not changed. What will our children do once they are no longer in school?

A good plan is not to wait until your child is an adult. Start planning well in advance for the services they may need. Are there day programs available in your area? What types of supports will you need? Will you be able to stay home from work to care for your child? Will you consider residential care? Start talking to people involved with your child in their early teens. Make yourself aware of wait lists you may need to be on, services in your area, or changes to your life you may need to make to support your child at home.

Here are a few things that you will need to be prepared for:

The move from children’s specialists to adult health care, medical treatments, therapists. The focus is much different and less family-centered in adult care. Ensure referrals are done, paperwork is clear, and information shared with adult service providers.
Loss of child programs, supports and activities. Are there programs or funding sources to help hire people to support your child in the community to continue to do meaningful daytime activities once school ends?
Applying for Disability Benefits. Be aware of what you need to apply for, and the earliest you can apply. These will vary by country and state/province.
Applying for Guardianship (your child will not have the capacity to consent to you being their guardian, and you will need to go to court to apply for this when they become an adult.) Consult a lawyer for support in this area.
Considering residential supports or group homes. While many of our families continue to care for their children at home well into adulthood, many parents have found excellent supports for their children in supported living settings. While this sounds scary, our children can find meaningful lives with peers and in settings that cater to their physical and recreational needs.
Estate planning. Talk to a lawyer who can ensure that wills and trusts (Things like a Henson Trust) are set up so that your child will not be penalized should they inherit funds, and also, consider a power of attorney should you ever not be able to act on your child’s behalf, should you become incapacitated.

“Tyler was placed in a group home in 2021. He lives in a house with 3 other men with 24-hour care. He goes to a day center during the week where they socialize with many others and lots of activities. As hard as it was placing him there, I do see he is thriving. He is ready to go back after only one day visiting at home.”

Losing a child – Life Stages

One of the hardest things to face as a parent is the loss of a child. Children with Emanuel syndrome can experience life-threatening illness or birth defects.

There are members in our group who have lost children at all ages. Some as a newborn, others as adults. Sometimes it is after a lengthy illness and it is expected, and sometimes it happens suddenly and we cannot prepare. The one thing that our parents have in common is the meaning made from the life of their child, however long it may be. Even after your child is no longer with you, the support from our group continues. We are a small group and much like family, every loss is deeply felt by our community.

How can we make sense of such losses?

Parenting is central to our existence. It provides us identity. Our children are supposed to carry a part of us into the future. We are supposed to protect our children, and sometimes we cannot save them. But we can honour them and remember them:

For a newborn, hold and name your baby.
Have a memorial service.
Take photos. Make hand and footprints.
Keep reminders of your child—a lock of hair, some clothing. Find a way to memorialize your child—a memento to keep with you, plant a tree, release butterflies or balloons, tell others about your child—write about them, get a tattoo. There are so many ways to keep their memory alive.

Talking to others who have gone through this experience can help. Your child was loved and valued. They mattered.

We are including resources that will help if you have lost a child.

Please connect with us on Facebook. We are always here for you.