I get a lot of people asking me what octagam is and although I talk about it all the time most of you don't even know what it is and why Jason has to have it. Jason has combined primary immunodeficiency. The cells that make up the immune system are developed in the bone marrow known as stem cells (T Lymphocyte cells and B lymphocyte cells) In an individual with a healthy immune system when the body is attacked by a virus, bacteria or parasite (foreign antigen), the bone marrow recognizes the foreign antigen and produces these cells which attack the foreign antigen. In most cases the body is strong enough to win the battle and fight off the foreign antigen. When a major component of the immune system is not functioning correctly medical intervention is necessary to fight off these infections (i.e. antibiotics). Now in combined primary immunodeficiency there is a defect in the T lymphocyte cells and B lymphocyte cells and the body is unable to fight off the foreign antigen and this attacks the body. Octagam is a sterilized solution made from human plasma (part of the blood). It contains the antibodies to help the body protect itself from various diseases and infections. It is a clear solution that comes in a bottle (as seen in the picture below) and the medication is given intravenously over a period of time. In Jason's case he receives approximately 500mls which he receives at a rate of 100mls per hour. He has to have octagam 3 weekly as he still gets sick if we try and push it longer.
Otherwise octagam went well. His bloods test shows that he is dehydrated which is probably due to the chronic diarrhoea. Although he is getting a lot of fluids during the day and overnight he also does lose a lot of fluids through sweating (as he can't regulate his body temperature) and diarrhoea. I need to find the right remedy for this hydration problem. The problem with Jason is anything that has electrolytes and sugars that will help with the hydration also causes the diarrhoea to worsen so it's pretty pointless really. I will have to find some time to research this. It is something that worries me about Jason. Hydration is so important for your wellbeing and for your body to function as a whole. Dehydration isn't just loss of fluids it is also loss of electrolytes and sodium from the body. Usually when you are dehydrated you feel the feeling of thirst. Well Jason doesn't get that feeling and therefore he doesn't get the natural instinct to drink something when dehydrated. Having said that he is trying and doing really well at school with his drinking out the cup. We have to constantly tell him to have a sip which he does but if you don't tell him to have he won't instinctively have like any normal person would when thirsty.
We also did some bloods and a urine test to check his levels of lactate and pyruvate which are acids found in the mitochondria. The results will give us more information on whether Jason may or may not have mitochondrial disease. In mitochondrial disease these levels are usually elevated. This is the first step in testing. The next step which we did discuss is the muscle biopsy where they take a tissue sample which needs to be sent on ice and couriered to the UK for testing. This is something we will be looking into and Dr. P will discuss this with the Pretoria neurologist who was a part of the team we saw in November. It does make me nervous as this would mean going into theatre and an anaesthetic but I do feel it is important to check if he has mitochondrial disease. A diagnosis will give us a better understanding of the treatment, the medical intervention and the way forward.
This week I also heard from the endocrinologist and he does want to see myself and Jason for a follow up following the test results we had in August last year. I would like to do this soon and look into what needs to be done regarding hormone treatment. This hormone treatment will affect when we look into the urology procedure. Jason has hypospadias and severe chordee and the surgeon felt it was necessary to see the endocrinologist first to determine whether Jason would need hormone treatment before the procedure is done.
Nicole started last week with a snotty nose and a cough. Whether it is an asthma relapse we don't know but I feel a bit fluish myself and Jason has started with a snotty nose as well. He has a post nasal drip and blocked nose. Not too bad but with his immune system also not good to have. Hopefully yesterday's octagam will help protect him.