Jill Long gave birth to Jason at 31 weeks. He weighed only 1kg but he's a real fighter and just celebrated his 6th birthday! He is, however, very ill and doctors don't know how to treat him. Jill tells his story.
From early on in Jill's first pregnancy, it was clear something was wrong. There wasn't enough amniotic fluid and the baby had irregular heartbeat. When he was eventually born at 31 weeks, he miraculously survived – but that was the beginning of a long and hard journey to keep Jason alive.
His mother is desperate to find a diagnosis and wrote this letter to try and raise awareness of Jason's condition in the hope that someone can help.
Jason's symptoms undiagnosed autonomic condition
. He has the following symptoms:
- Nausea and vomiting periodically – very often which can last more than a week or two.
- Recurrent pneumonia/bronchitis.
- Lack of tears (never had tears from birth).
- Very high pain threshold (hurting himself, burning himself and not feeling a thing).
- Feeding difficulties – he has a feeding tube, had for nearly 5 years now.
- Poor growth – currently 14.1kgs at 6 years old.
- Red blotchy skin at times when sick.
- Diarrhoea – persistent chronic watery diarrhoea, still in nappies.
- Stomach cramps.
- Excessive sweating.
- Very delayed with speech, not talking yet.
The worst at the moment are the persistent diarrhoea, nausea, gagging (eventually vomiting) and dehydration. He goes through weeks where he will just continuously vomit day and night and we eventually end up in hospital for dehydration.
He can be violently ill, vomiting for over a week non-stop, then all of a sudden wake up feeling perfectly fine for it to only return again a few days later. He is constantly in hospital or sick at home, not able to develop properly, grow and be nutritionally well.
Jason is also immunodeficient and catches EVERYTHING going around. He has had rotavirus and salmonella many times, is prone to catching all sorts of parasites, had H. Pylori two months ago and now has cryptosporidium. All of these obviously make the diarrhoea, vomiting, nausea and stomach cramps extremely worse.
We have had two syndrome suggestions: non-familial dysautonomia and 17q21.31 micro deletion syndrome. They also feel that his symptoms could be because of an autonomic nervous system?
We need to get answers for Jason and find out what he may or may not have and also learn how we can treat his symptoms.
We have done local chromosome tests in South Africa and also a local familial dysautonomia test. We have been told that the local FD test does not confirm or rule out FD with Jason and in order to find out more we need to do two more possible tests: an FD test in the UK or US and micro-array tests.
The FD test will cost us between R5,000 and R7,000 and the micro array test will cost £350 in the UK or $1000 in the US. We will also have courier fees and so on for transporting Jason’s blood.
I am waiting for an MLPA subtelomeric screen test. The blood was sent to the genetics lab in May 2011, it has almost been two years now and we don’t have the answers due to “short staff”. It’s just unacceptable and we don’t have time to waste.
We are concerned about Jason’s heath and wellbeing and don’t know what lies ahead. We obviously are battling financially with Jason’s monthly expenses of over R10,000 and I can only work mornings – and only when Jason is NOT sick. So we are relying on one salary to cover all his medical expenses and our monthly expenses.
Our medical aid covers hospital admissions but does not cover his expensive formula feeds, pump lines, syringes, therapies etc."
If you would like to find out more about Jason's journey, read Jill's blog, Jason's Journey (you'll also find more details in case you would like to get in touch or donate.)