“I am hoping the new treatments becoming available will mean Jethro can lead a fulfilled and active life.”
We have been living with a condition called hereditary angioedema (HAE) in our family, and for 15 years we had no idea what it was.
My husband, Kerry, had unexplained swells in his hands, feet and other parts of his body. Plus, extremely bad abdominal pains which often led to multiple days off work. In his teenage years many tests were done for the abdominal pain but to no avail. In the end, he gave up with the medical profession and just lived with it.
Our youngest son Jethro started to have abdominal pain around the age of three. The doctors put it down to constipation. As the years went on his abdominal pain was so much like my husband's I knew whatever he had must be Jethro's problem as well. The GPs were convinced that Jethro had constipation, so in the end, I just gave up.
It was not until 11 that Jethro had his first external swell. He woke up one morning with lips so swollen his upper lip touched the tip of his nose. I looked at Kerry and I can remember saying ‘Well, whatever you have Jethro has it as well.’
I thought it was about time to find out what this was once and for all, and I came across an HAE website. ‘One in 50 000’ - I thought that wouldn’t be it, but looks like an interesting read. Then I came across the Australasian Support Group for HAE, it had a list of 10 symptoms. I started reading through it and put a tick in each box. It also said if the belly aches and pains together with external swells carried on into adulthood it was more likely to be hereditary angioedema.
My mouth fell open when I read that the internal belly ache swells could start early childhood - then the external swells around puberty. I thought crazy as this is just what happened to. The GP confirmed the tests could be done, he sent the bloods, and bang it was confirmed.
I had no idea in confirming the diagnosis we were walking into a political nightmare because of the cost of the treatment - Who was going to pay? Where was the funding coming from? The blood bank released the treatment called Berinert which is an IV infusion, but the next issue was when was it to be administered. I was very grateful for the help and support from the HAE Australasia support group. I must also say that I was very grateful having the treatment made available for him, as it was needed almost five months later when he had his first major face swell. This was when I saw that this was a life-threatening condition and it truly frightened me.
Jethro turned 13 last October and his HAE does not hold him back. He loves soccer, running and life in general. He is a great skier on school trips, and especially enjoys school camps. I do find he can push himself through pain barriers and keep himself going to do things, but when it is over he crashes and becomes quite unwell the next day. In the time of us obtaining treatment for him, it was like having to go two steps forward one step back. It is now thankfully sorted, and we have been told we can now receive his treatment on demand. That means they have been treating him without a fight when he is too unwell for school. This has been a real breakthrough and has only just happened during the last six months.
I am hoping that the new treatments becoming available for HAE will mean that Jethro can lead a fulfilled and active life without pain.
|Occurrence||1 in 50,000|
|Description||A genetic condition characterised by episodes of severe swelling. The most common areas of the body to develop swelling are the limbs, face, intestinal tract and airways, and can become life-threatening if airways are obstructed.|