The retching/gagging never really went away. This is something we have had to live with and something that has ruled our lives. There are many syndromes/diseases that have vomiting so it's not easy to actually pin point a disease as such. It has been years that we have had to live with this. Jason can be so sick with it and then all of a sudden it has gone and he is fine. This is exactly what happened. We got discharged on Wednesday the 20th with the gagging still there. We kept him off school (in case of any bugs) in order to make the Pretoria trip on the Monday the 25th. That weekend he was so sick with it and we couldn't feed him during the day on the Saturday, Sunday and Monday. We were relying on overnight feeds only and even had to reduce the feeds as he was waking up at 3/4am retching. I had to reduce feeds in order for his feeds to stop a good few hours before he woke up. We have tried everything we can think of when his is sick like this and NOTHING works. On the Sunday we decided to join some friends at Hayzelmere dam to take Jason fishing and for the family to get out a bit and have some fun. Well Jason was so sick he just passed out on the blanket in the shade and slept gagging between sleeping. When he was awake he was gagging.
Monday morning was the day we were leaving for Pretoria. After a hideous weekend of nonstop retching Jason woke up at 3am gagging and we were booked to fly out to Pretoria. Jason was nearing admission stage as he was not well and looking pretty dehydrated due to lack in fluids. He was even vomiting water by this stage. We now had to make the decision of whether to fly to Pretoria with Jason in this state or not. Not an easy decision to make but with the help of Kelly (from Rare Diseases South Africa) we decided that this was exactly the reason why we needed the help from these doctors and it would be a good thing for them to see Jason the way he was.
The day wasn't an easy day for myself or Jason but we got what we needed in the end. We needed these doctors to see Jason and to see what we were talking about. The trip there wasn't easy at all. We arrived at the airport with Jason gagging badly. For those of you that have not heard this gagging, it sends a knot to your stomach when you hear it. Jason and I joined the Kulula queue of about 30 people and he started gagging, well all 30 people turned to see where this awful sound was coming from. Quite embarrassing having 30 people looking at us and trying not to stare with me just patting Jason on he back saying "ok boy". These people must have thought "how's this mother". Sigh there is nothing I can do, he doesn't vomit easily so all I can do is reassure him and try and distract him from feeling so awful. He gagged the whole way through the airport, through my breakfast at Wimpy and on the plane where he eventually fell asleep (thank goodness). Wouldn't have been fun having him gagging in the air and scaring the living daylights out of the entire crowd on the plane. Poor Jason, I don't even think he remembered being on the aeroplane and flying.
The lovely Kelly from Rare Diseases South Africa (www.rarediseases.co.za) kindly fetched us from the airport and transported us around Pretoria for the day. What a lovely lady, I so admire her strength and determination to help their patients like Jason when she has her own family and a son with a rare condition. I really look up to her and so admire everything she is doing. She founded Rare Diseases South Africa and her drive and determination to help her patients is nothing but AMAZING! I don't know what we would have done without Kelly and her organization. This opportunity to go to Pretoria would never have happened without her help.
We arrived in Pretoria and entered a room filled with a team of 9 experts and specialists. You certainly don't get this happening in South Africa and an opportunity like this may never happen again. It reminded me of our trip to Austria when the panel of doctors and specialists were looking after Jason while tube weaning. Being in the presence of this team in Pretoria I just remember feeling so calm and so honoured that I was sitting there in a room full of people there to help us! Jason had walked in with me and he was so sick that he plonked himself down on the floor and went to sleep, totally pap and out of it. This was my opportunity as Jason's voice to try and get him the help he needed. Our little boy was so sick and these doctors could see exactly what I was talking about. Today I am so grateful that Jason was that sick on the day as they were able to see exactly what I was talking about. The meeting was a question and answer discussion as well as an examination of Jason.
To cut a LONG story short the team have suggested that Jason's symptoms are most compatible with a mitochondrial disorder. They have based this on the symptoms as well as a lot of the tests that have been done in the past that suggest abnormal results. They also advised that Jason may have cyclic vomiting syndrome or stomach migraines that may be causing the constant nausea. As one of the experts said to me after hearing all Jason's symptoms and problems. A diagnosis may take years to find. To me a diagnosis isn't top priority. It would be nice having a name and a reason for everything but what's more important is being able to treat the symptoms and making Jason comfortable and not constantly nauseous and feeling terrible.
The plan of action which we have started today is to repeat the metabolic screen, test his carnitine levels again and to wean and stop all the anti-emetic type of drugs. We are going to start him on two new medications, one that may help with the vomiting as a migraneous phenomenon and the other as an alternative prokinetic (gastrointestinal symptoms).
I am excited for the change and look forward to hearing what the new results have to say. The metabolic tests were done in 2009 so a good four years ago. These tests will give us some more insight. SO although we don't have a definite diagnosis yet we have a direction and to me that is SO important. We have a plan and wow we have such an awesome team of doctors working on Jason's case. We are truly blessed not only to have these new doctors looking after Jason but Jason's primary caregiver Dr. P. He is the most amazing paediatrician and I don't know what we would do without him. The amount of hours he gives of himself and his family for Jason and for us. He has never given up. Jason is such a complicated case and he hasn't run a mile :-)
Today was octagam and we have just finished his dose now. Time to head on home with new meds and new hope.