Nager Syndrome is an incredibly rare congenital condition. I talked to a couple to find out more and how they are finding parenting their new baby boy.
An inspiring story
Whilst doing my usual ‘twittering’. One of my tweets got retweeted and as you do, I had a look at the person who retweeted it. I looked on their feed and all I see is pictures of a cute little baby. But something wasn’t quite right, most of the pictures were of the baby in the hospital. So I looked into it further, being intrigued by the situation and I guess to an extent I was just being nosey. I asked the question. I got told the little baby boy had a rare condition called Nager Syndrome. Instantly this sparked my interest, potentially having a rare condition myself, I definitely found this one interesting.
From that point on, I started to follow @finding_my_feet on Twitter. I was intrigued about the condition, how the parents were dealing with it, and ultimately how this little boy was getting on. The parents of little baby Jack want to create awareness of this incredibly rare condition and I jumped at the chance to write this article to help.
The journey so far
I asked Hannah(Mum) and Josh(Dad) a few questions and their response is truly touching, yet interesting.
First, let me introduce you to Hannah and Josh. Both born in the early ’90s and living in Kent. Like all of us they have had it rough throughout 2020, but what makes them a little more special is that they gave birth to a beautiful little boy called Jack in June of 2020.
What’s so special about that I hear you ask. Well let’s get into the Questions and Answers that we compiled between us to find out more.
What was life like expecting a baby during a pandemic?
It was certainly different from how we imagined it to be. We had a lot of scans because of issues with our baby, Jack. We don’t drive so it meant having to rely on others to take us to places because we couldn’t risk public transport. There were a few scans that I couldn’t attend but as things started to get more and more serious in terms of Hannah and Jack, I asked to attend as she needed more support. The first lockdown was very strange but it did mean that we were both off work and were able to spend a lot of time together before Jack arrived and allowed us to get things into place.
At what point did you get told your child may have malformations?
Whilst Hannah was pregnant they picked up on the scan that Jack had a very small chin, meaning there could be problems with breathing. However, no one knew how severe. Also, Hannah had a lot of amniotic fluid which meant he may not be swallowing. Closer to his due date his growth had also started declining. However, we wouldn’t know much until his birth.
How did you and your partner react to the news?
We were shocked but we were unaware of what was going on. We were told that we will know more when he is born. It was scary thinking about the unknown.
Can you tell me about the moment your partner gave birth to Jack? Were you allowed at the birth?
Our local hospital told us that due to the high risks with Jack it meant we had to have him born at St Thomas hospital in London. Hannah went in for a C-section and thankfully at that point I was allowed at the birth, however, I was told I couldn’t stay with her afterward. We had around 15-17 different specialists in the delivery room to get ready for any complications.
As soon as Jack arrived they removed the umbilical cord from around his neck and took him to a table in the corner of the room. Roughly 10 doctors then tried to get a breathing tube down his throat in order to help him breathe. After about an hour and a half, they told us they couldn’t do it in the room and needed to take him to the operating theatre. They said if they couldn’t get it down his throat they would try something else which could be very risky to his life.
They took him down and then after 2 hours they came up and told us it was successful, however, Jack would remain sedated until they can think of a better option. He weighed 4lb 2oz, even though Hannah was 37 weeks pregnant. For the first five days, Jack was sedated, then he had a tracheostomy tube fitted to help him breathe, from there things improved. We didn’t leave the hospital for 11 weeks.
Can you explain what Nager Syndrome is?
Nager Syndrome is very very rare. There are just over 100 people in the whole world that have it. It’s something that randomly happens with the sequence in the genetic coding which doctors describe as something similar to a spelling mistake in a book. It affects the physical aspects of a human being. Generally, the face and limbs but can sometimes affect more. The most common aspect is having no thumbs, a very small jaw, distinctive facial features like no cheekbones, abnormal ears, and fused arms. Hannah and I had genetic testing and we have found that it is not genetic from within us. However, it does create a 1% chance of happening again, if we were to have another child but it is unlikely. Jack now has a 50% chance of passing on the defective gene if he has children.
Can you describe how Nager Syndrome has affected Jack?
Jack has no thumbs, the consultants are hoping to make his thumbs soon by turning his index fingers into thumbs. However, one finger is curved so they need to try and straighten it in order to give him thumbs on both hands.
He has slightly fused arms, however at the moment they seem almost normal. His earholes are very very small, so small that sound struggles to pass through so he is classed as hearing impaired. He wears what is known as a BAHA band (Bone Anchored Hearing Aids) which is a band around his head that allows him to hear. One day he will have a hearing implant surgically attached to his head.
His jaw is so small meaning the airway is tight. He has a tracheostomy tube in his throat to allow him to breathe. This means he is currently unable to make sounds. So when he cries, laughs, etc you can’t hear him. Hopefully one day in the future the tube will be removed. He currently can’t swallow, so is fed through a feeding peg. We are still waiting for the results.
His facial features are slightly different. His ears are further down his head, his left eyelid doesn’t close properly when he’s asleep and he also has a lot of loose skin from where his face isn’t fully formed. He also has a cleft palate. His growth was a little bit behind however it’s starting to get back on track.
Despite all of this he is very happy and still does a lot of ‘normal’ baby things. The physio team has said he’s on track like any other baby and at a glance, you wouldn’t know all of this was happening.
What has daily life been like since the birth of Jack? And what will it be like going forward?
Its a bit of a struggle, some days are harder than others. The Tracheostomy requires a lot of work. Every day we have to change his dressings and this can only be done by two people. He requires suctioning all of the time. His tube could also get blocked, meaning he can’t breathe and could potentially lead to suffocation. He can pick up lots of infections and can be in the hospital for having a cold. In October 2020 we spent 4 days at home and the rest of October in and out of the hospital. The longest we stayed was 3 weeks. He’s on oxygen when he’s asleep, with only 0.1L/m low flow though.
He has to be watched 24/7. Hannah and I can’t sleep when Jack is sleeping. We can’t put him in bed and have a baby monitor like most people would. We have nurses look after him 7 nights a week to allow us to rest. He can’t be left alone with family members unless they are trained and signed off.
He’s on timed feeds and has to be fed every 3 hours through a machine that feeds into his peg. Every morning one of us will prepare 8 bottles of milk. He also has regular medication.
All of his different needs means he has a lot of appointments, sometimes up to 5 per week. Thankfully we get hospital transport to help.
What about days out?
If we wanted to go for a walk for an hour we would need a lot of stuff. We need a suction machine and catheters, a neck roll, his feeding machine, his oxygen cylinder, an emergency box as well as the typical baby stuff.
At the moment we are coping as well as we can. With me being furloughed and Hannah being on maternity it has meant I can help with the day to day tasks as well as attend most appointments.
Does Jack have a life expectancy?
Thankfully Jack will live a full life.
What risks does Jack pose as he gets older?
The major risk is the tracheostomy and making sure it’s maintained. However, the consultants do not think he will have this forever and there’s a possibility it could be out in the next few years. If he can’t swallow then that can pose risks however it is manageable. He will also have a lot of operations on his face, arms, and hands but the older he gets the lesser the risk. Most people with Nager Syndrome say that by the age of 20 most of the operations have been completed. Mentally, he will likely need support as he will look ‘different’ but, as a family, we will deal with that when the time comes.
Has Jack’s condition affected Hannah or yourself in any way? (mentally/emotionally etc)
It certainly has affected us. We are parents but we are also classed as ‘carers’. It can be very emotional at times when thinking about the stuff he can’t do at the moment. Things like produce sound, however, we can communicate with him in other ways. Also, it can be emotional thinking about what’s to come. Such as operations. It can be mentally draining when he’s unwell or when we have lots of appointments.
It can also be hard not being able to do a lot of things as just a couple. Such as go for a meal or to the cinema etc. We knew having a child would change things but the fact no one can babysit him can be a struggle.
Thats alot to deal with, What gets you through a day?
What gets us through is Jack. He may have a lot going on but he is like a lot of other babies as well. The fact he doesn’t know what’s going on and that he will live a full life is enough for us.
Why is spreading awareness of Nager Syndrome important to you?
It’s an incredibly rare condition and although it’s not a nice condition, it certainly is interesting. There’s very little information online about it and the community is so small. So I want to raise awareness and try and find more people with this syndrome. If people have seen the film ‘Wonder’, the similarities are much the same.
A Moving story
I won’t lie, some of the answers given by Hannah and Josh gave me a lump in my throat. A truly inspiring couple, determined to support their child whatever life will throw at them, regardless of their own life being on hold. I take my hat off to you both and I truly wish you both and Jack all the best for the future.
Hanah regularly posts to her Twitter feed using @finding_my_feet when she can. Hannah has also started a blog documenting their journey as a family through what will no doubt be trying times. Follow Hannah’s journey on the Finding My Feet Blog. Give her a follow, if you’re on twitter.