Over the years we have had to dig our way through to try and find a diagnosis for Jason with his many, many symptoms and difficulties. We unfortunately have had to go through the process of many illnesses, many tests and much expense to try and figure Jason's complex case. Even our doctors call Jason a medical mystery and have had many doctors scratching their heads and giving them grey hairs. Luckily for us we have found a really good team of doctors that have made it their mission to help Jason over the years as hard as it has been for them. We have a great team together. My brain never stops thinking, never stops looking for answers. I desperately would like a diagnosis for Jason but at the same time I know we may never find one. So this is what we know Jason has :-
Severe food intolerance and oral aversion syndrome
This was one of Jason's first diagnosis, which started out as silent reflux that developed into total food intolerance and oral aversion where he stopped eating altogether. At 15 months Jason required an operation to fix the valve that didn't close and the hernia that he had. Because of his weight, him being failure to thrive and malnourished it was decided that a feeding tube (PEG) was necessary in order to feed Jason to keep him nutritionally well. The peg saved his life and without it he would not be here today. Reflux is a terrible disease that is actually quite common in early infancy but in Jason's case he never outgrew the reflux and oral aversion. The Nissan was able to help with the reflux and the peg helped keep him nutritionally well but Jason never outgrew the long term effect the reflux had on him. At the time Jason received his tube it was medically necessary in order for survival. Jason unfortunately became tube dependant which had a negative impact on his growth, health and development. Tube dependency is quite common and not so easy to get rid of when your child becomes so dependant on the feeding tube and feeds. Bruce and myself have been through two intense tube weans and Jason is one of those kids that simply does not eat when starved. He would literally starve himself and boy have we tried to break him. I know it sounds terrible and a bit far fetched but this is what we actually had to do. I documented both our weans and there is a daily run down of our wean and progress. I say our wean because as much as it was Jason's wean, it has been mine and Bruce's wean as well. It's a daily struggle and unless you are in the situation you cannot understand the depths to which some parents have to go through to feed their child. I have many friends in the same situation as we are and their daily lives are a struggle, consumed by trying to encourage their child to eat, feeding constantly throughout the day, special formula feeds, tubes, syringes, blends, all of which cost a lot of money and your life is consumed by trying to do something so natural and normal to others, trying to feed your child. I have huge respect for all my friends that have or have had a tube fed child. Only they understand and they are your pillar of strength. My advise for parents that are trying to tube wean - Go and get help. You cannot do this on your own, you have tried too long on your own and you require big steps in order to wean your child. You need that support, you need that doctor's input. NoTube was our starting and turning point. I highly recommend them, we have been through two weans with them - one where we flew to Graz, Austria for their inpatient wean and the second netcoaching wean. I am not going to get into all the detail of why it didn't work for Jason and for us because I would be here all night. Everything is documented on the left under "Graz NoTube weaning" read it and you will see what it is all about and why it hasn't worked for us yet. I say yet because I still consider Jason on his wean. Yes 5 years down the line but we are still weaning and one day we will throw his tube in the sea!! One day!
Combined immunodeficiency - combined variable immunodeficiency
Jason's immunodeficiency was actually picked up in Graz, Austria when we were there for his tube wean. After many years of illnesses, hospital admissions and recurrent infections we finally had a reason. Combined variable immunodeficiency is is a genetic disorder characterized by the absence of functional T-lymphocyte and B-lymphocyte cells. As a result of the absent cells, he does not have the antibodies to fight off viral, bacterial and fungal infections. The only cure for this is stem cell transplant (or bone marrow transplant). This is the reason why Jason has 3 weekly intravenous immunoglobulin treatment in hospital. Octagam or polygam is a blood product that contains the pooled, polyvalent, IgG antibodies extracted from the plasma of over one thousand blood donors. IVIG is therefore replacement therapy for Jason to give him an immune system to fight off viruses, bacterial and fungal infections. We started treatment for his immunodeficiency in January 2011 after our trip to Austria. Treatment with polygamy takes about 14 hours in hospital and we do this every three weeks. Polygam or Octagam does have it's side effects as it is a foreign body and sometimes Jason has a reaction to treatment which is usually blotchy red skin/ears and high fevers. He is usually quite lethargic a day or two after and can feel quite nauseous.
Cyclic vomiting syndrome
Diagnosis of this terrible disease was actually made after many recurrent nausea and vomiting attacks resulting in hospital admissions for dehydration. Cyclic vomiting syndrome is characterized by severe episodes of vomiting with no apparent cause. Episodes can be triggered by stress and excitement. A simple trip to visit family has resulted in Jason being violently ill with nausea and non stop vomiting and we end up in hospital with dehydration and Jason in a bad state. Birthday parties, friends coming to visit can trigger an attack and unless caught early we end up in hospital for fluids and electrolytes. Jason also has stomach migranes which makes him ill. We have finally found a treatment plan that has been able to control these episodes and give us a bit of normality. It isn't a common disease and therefore it has been difficult to diagnose. It took us years but finally we know why and what to do.
Chronic kidney disease
Unfortunately diagnosis was only made later on in Jason's life. My personal opinion is Jason has had this his whole life. Before Jason was born my amniotic fluid was low and the fetal specialist picked up 4 things - mild pyelectasis which is a light dilation of the baby's kidneys, borderline oligohydramnios which is too little amniotic fluid, possible pelviureteric obstruction which is a kink between the baby's kidneys and bladder and baby was behind in growth by 3 to 4 weeks. Why was this missed well I believe the kidney problems were always there but due to all Jason's other problems - illnesses and feeding difficulties it was not diagnosed until later in life when he was very ill and admitted for 40 days. Our paed was having great difficulty with a diagnosis and treatment for Jason's illness at this time and a colleague of his was called in who was a specialist paediatrician and nephrologist. Extensive tests were done and a diagnosis of chronic kidney disease was made. Jason has high levels of protein in his urine which has been constant. We have been monitoring this every 3 weeks and each time the protein is there. There should not be protein in your urine. Jason is on treatment for this which has to be carefully monitored. We have done all the tests and have the diagnosis but haven't done the kidney biopsy yet to know the extent of the damage. This is something that we will only do if necessary.
Hypospadias and severe chordee
These are two urology problems that need to be corrected with surgery. Developmental problems due to prematurity and underdevelopment. In late 2014 Jason had 3 testosterone injections over 3 months in order to prepare for surgery. We decided to delay the surgery due to it being too close to Christmas and also due to Jason suddenly doing well with eating and us not wanting any setbacks with his eating.
Malabsorption
This is something we have been dealing with for years. At first we thought it was a tube feeding problem but with eating orally and drinking orally including a lot of solids this hasn’t improved over time. Jason’s paed and nephrologist have diagnosed him with malabsorption and unfortunately there is no cure or quick fix. They feel it is a part of his mitochondrial condition. Basically whatever is going in is coming out just as quickly and Jason is not absorbing his nutrition and nutrients. This also has an effect on his medication as when sick his body does not absorb his medication easily and we have to get admitted for IV medication. A part of the malabsorption is the chronic diarrhoea that Jason has. His treatment plan for this is just Imodium and probiotics which unfortunately don’t really help. One of the terrible side effects of the malabsorption is the terrible bum burns that he gets from acidic poos and again there is no help for this either. Toilet training has been almost impossible although we have never stopped trying. This is something we continue to work on.
Mitochondrial disease
A pretty new one to our list which remains undiagnosed at this stage. In order to diagnose we need to fly to Pretoria for a muscle biopsy which will need to be done under sedation. It is something that I would like done but at the same time scared and reluctant to do. As with all anaesthetics, every one is risky and we still need to have his urology operation. Anyway what is mitochondrial disease - quite a mouthful. Mitochondrion are present in every cell of our body. They are the powerhouses of the human cell; they convert the energy stored in sugars and fats into adenosine triphosphate, the essential energy molecule of all animals. Basically mitochondria is like the power supplier that supplies energy in your home. If the mitochondria is defective, your body cannot function as it should. The reason people manifest with so many different problems is based on the percentage of "bad" mitochondria to that part of the body. Some have muscle problems, some have brain (neurological) problems. Mitochondria are responsible for producing 95% of the energy that's needed for our cells to function. Mitochondrial disease can shut down some or all of the mitochondria, cutting off this essential energy supply. Because muscle cells and nerve cells have especially high energy needs, muscular and neurological problems are common features of mitochondrial disease. In Jason's case thanks to Rare Diseases South Africa we were lucky enough to see a team of specialists, some South African and some foreign who were able to go through all of Jason's symptoms with me and also examine Jason. On this particular day, the day we were going to travel to Pretoria, Jason was SO SO sick and we were thinking of cancelling the trip. After much debating we decided that it would actually be a good thing for them to see Jason in the state he was (nausea, vomiting, very lethargic, blotchy red face, pale, curled up in a ball on the floor). They saw Jason the way we have lived with him. Finally many doctors were able to see what we go through with Jason on a daily basis. The discomfort and pain he was in. After a long consult with myself, going through his history and tests they came up with the diagnosis of mitochondrial disease and cyclic vomiting syndrome. I am still learning about this disease myself and honestly I don't want to learn too much considering we do not have a definite diagnosis yet. Sometimes things are better left until you actually know for sure and until we are at that stage I won't go too much into it. All that I know is Jason's team of doctors feel that all of his signs and symptoms that he has falls under one ultimate cause/disease. Jason has many signs and symptoms affecting his health, he has many different problems and diseases and they feel that they all fall under one condition "mitochondrial disease". What is the life expectancy I don't know. Many people ask this and really I don't care. We have almost lost Jason MANY times due to illness because of his immunodeficiency. This isn't something Bruce and myself care to know. This is not a concern of ours. We live each day as it comes. Why worry about something that may or may not be. Why stress yourself about something like that? For now we are focussing on Jason's heath, his immune system, his schooling and his eating. We need to do his operation as well which is something we could do without but something that needs to be done. We are scared of eating set backs, we are scared of him going under anaesthetic. We just rather go one day at a time and that is all we can do as parents to a very special little boy. A little boy that was loaned to us from God. A little boy that has made us special parents because he is so unique and special.
Severe food intolerance and oral aversion syndrome
This was one of Jason's first diagnosis, which started out as silent reflux that developed into total food intolerance and oral aversion where he stopped eating altogether. At 15 months Jason required an operation to fix the valve that didn't close and the hernia that he had. Because of his weight, him being failure to thrive and malnourished it was decided that a feeding tube (PEG) was necessary in order to feed Jason to keep him nutritionally well. The peg saved his life and without it he would not be here today. Reflux is a terrible disease that is actually quite common in early infancy but in Jason's case he never outgrew the reflux and oral aversion. The Nissan was able to help with the reflux and the peg helped keep him nutritionally well but Jason never outgrew the long term effect the reflux had on him. At the time Jason received his tube it was medically necessary in order for survival. Jason unfortunately became tube dependant which had a negative impact on his growth, health and development. Tube dependency is quite common and not so easy to get rid of when your child becomes so dependant on the feeding tube and feeds. Bruce and myself have been through two intense tube weans and Jason is one of those kids that simply does not eat when starved. He would literally starve himself and boy have we tried to break him. I know it sounds terrible and a bit far fetched but this is what we actually had to do. I documented both our weans and there is a daily run down of our wean and progress. I say our wean because as much as it was Jason's wean, it has been mine and Bruce's wean as well. It's a daily struggle and unless you are in the situation you cannot understand the depths to which some parents have to go through to feed their child. I have many friends in the same situation as we are and their daily lives are a struggle, consumed by trying to encourage their child to eat, feeding constantly throughout the day, special formula feeds, tubes, syringes, blends, all of which cost a lot of money and your life is consumed by trying to do something so natural and normal to others, trying to feed your child. I have huge respect for all my friends that have or have had a tube fed child. Only they understand and they are your pillar of strength. My advise for parents that are trying to tube wean - Go and get help. You cannot do this on your own, you have tried too long on your own and you require big steps in order to wean your child. You need that support, you need that doctor's input. NoTube was our starting and turning point. I highly recommend them, we have been through two weans with them - one where we flew to Graz, Austria for their inpatient wean and the second netcoaching wean. I am not going to get into all the detail of why it didn't work for Jason and for us because I would be here all night. Everything is documented on the left under "Graz NoTube weaning" read it and you will see what it is all about and why it hasn't worked for us yet. I say yet because I still consider Jason on his wean. Yes 5 years down the line but we are still weaning and one day we will throw his tube in the sea!! One day!
Combined immunodeficiency - combined variable immunodeficiency
Jason's immunodeficiency was actually picked up in Graz, Austria when we were there for his tube wean. After many years of illnesses, hospital admissions and recurrent infections we finally had a reason. Combined variable immunodeficiency is is a genetic disorder characterized by the absence of functional T-lymphocyte and B-lymphocyte cells. As a result of the absent cells, he does not have the antibodies to fight off viral, bacterial and fungal infections. The only cure for this is stem cell transplant (or bone marrow transplant). This is the reason why Jason has 3 weekly intravenous immunoglobulin treatment in hospital. Octagam or polygam is a blood product that contains the pooled, polyvalent, IgG antibodies extracted from the plasma of over one thousand blood donors. IVIG is therefore replacement therapy for Jason to give him an immune system to fight off viruses, bacterial and fungal infections. We started treatment for his immunodeficiency in January 2011 after our trip to Austria. Treatment with polygamy takes about 14 hours in hospital and we do this every three weeks. Polygam or Octagam does have it's side effects as it is a foreign body and sometimes Jason has a reaction to treatment which is usually blotchy red skin/ears and high fevers. He is usually quite lethargic a day or two after and can feel quite nauseous.
Cyclic vomiting syndrome
Diagnosis of this terrible disease was actually made after many recurrent nausea and vomiting attacks resulting in hospital admissions for dehydration. Cyclic vomiting syndrome is characterized by severe episodes of vomiting with no apparent cause. Episodes can be triggered by stress and excitement. A simple trip to visit family has resulted in Jason being violently ill with nausea and non stop vomiting and we end up in hospital with dehydration and Jason in a bad state. Birthday parties, friends coming to visit can trigger an attack and unless caught early we end up in hospital for fluids and electrolytes. Jason also has stomach migranes which makes him ill. We have finally found a treatment plan that has been able to control these episodes and give us a bit of normality. It isn't a common disease and therefore it has been difficult to diagnose. It took us years but finally we know why and what to do.
Chronic kidney disease
Unfortunately diagnosis was only made later on in Jason's life. My personal opinion is Jason has had this his whole life. Before Jason was born my amniotic fluid was low and the fetal specialist picked up 4 things - mild pyelectasis which is a light dilation of the baby's kidneys, borderline oligohydramnios which is too little amniotic fluid, possible pelviureteric obstruction which is a kink between the baby's kidneys and bladder and baby was behind in growth by 3 to 4 weeks. Why was this missed well I believe the kidney problems were always there but due to all Jason's other problems - illnesses and feeding difficulties it was not diagnosed until later in life when he was very ill and admitted for 40 days. Our paed was having great difficulty with a diagnosis and treatment for Jason's illness at this time and a colleague of his was called in who was a specialist paediatrician and nephrologist. Extensive tests were done and a diagnosis of chronic kidney disease was made. Jason has high levels of protein in his urine which has been constant. We have been monitoring this every 3 weeks and each time the protein is there. There should not be protein in your urine. Jason is on treatment for this which has to be carefully monitored. We have done all the tests and have the diagnosis but haven't done the kidney biopsy yet to know the extent of the damage. This is something that we will only do if necessary.
Hypospadias and severe chordee
These are two urology problems that need to be corrected with surgery. Developmental problems due to prematurity and underdevelopment. In late 2014 Jason had 3 testosterone injections over 3 months in order to prepare for surgery. We decided to delay the surgery due to it being too close to Christmas and also due to Jason suddenly doing well with eating and us not wanting any setbacks with his eating.
Malabsorption
This is something we have been dealing with for years. At first we thought it was a tube feeding problem but with eating orally and drinking orally including a lot of solids this hasn’t improved over time. Jason’s paed and nephrologist have diagnosed him with malabsorption and unfortunately there is no cure or quick fix. They feel it is a part of his mitochondrial condition. Basically whatever is going in is coming out just as quickly and Jason is not absorbing his nutrition and nutrients. This also has an effect on his medication as when sick his body does not absorb his medication easily and we have to get admitted for IV medication. A part of the malabsorption is the chronic diarrhoea that Jason has. His treatment plan for this is just Imodium and probiotics which unfortunately don’t really help. One of the terrible side effects of the malabsorption is the terrible bum burns that he gets from acidic poos and again there is no help for this either. Toilet training has been almost impossible although we have never stopped trying. This is something we continue to work on.
Mitochondrial disease
A pretty new one to our list which remains undiagnosed at this stage. In order to diagnose we need to fly to Pretoria for a muscle biopsy which will need to be done under sedation. It is something that I would like done but at the same time scared and reluctant to do. As with all anaesthetics, every one is risky and we still need to have his urology operation. Anyway what is mitochondrial disease - quite a mouthful. Mitochondrion are present in every cell of our body. They are the powerhouses of the human cell; they convert the energy stored in sugars and fats into adenosine triphosphate, the essential energy molecule of all animals. Basically mitochondria is like the power supplier that supplies energy in your home. If the mitochondria is defective, your body cannot function as it should. The reason people manifest with so many different problems is based on the percentage of "bad" mitochondria to that part of the body. Some have muscle problems, some have brain (neurological) problems. Mitochondria are responsible for producing 95% of the energy that's needed for our cells to function. Mitochondrial disease can shut down some or all of the mitochondria, cutting off this essential energy supply. Because muscle cells and nerve cells have especially high energy needs, muscular and neurological problems are common features of mitochondrial disease. In Jason's case thanks to Rare Diseases South Africa we were lucky enough to see a team of specialists, some South African and some foreign who were able to go through all of Jason's symptoms with me and also examine Jason. On this particular day, the day we were going to travel to Pretoria, Jason was SO SO sick and we were thinking of cancelling the trip. After much debating we decided that it would actually be a good thing for them to see Jason in the state he was (nausea, vomiting, very lethargic, blotchy red face, pale, curled up in a ball on the floor). They saw Jason the way we have lived with him. Finally many doctors were able to see what we go through with Jason on a daily basis. The discomfort and pain he was in. After a long consult with myself, going through his history and tests they came up with the diagnosis of mitochondrial disease and cyclic vomiting syndrome. I am still learning about this disease myself and honestly I don't want to learn too much considering we do not have a definite diagnosis yet. Sometimes things are better left until you actually know for sure and until we are at that stage I won't go too much into it. All that I know is Jason's team of doctors feel that all of his signs and symptoms that he has falls under one ultimate cause/disease. Jason has many signs and symptoms affecting his health, he has many different problems and diseases and they feel that they all fall under one condition "mitochondrial disease". What is the life expectancy I don't know. Many people ask this and really I don't care. We have almost lost Jason MANY times due to illness because of his immunodeficiency. This isn't something Bruce and myself care to know. This is not a concern of ours. We live each day as it comes. Why worry about something that may or may not be. Why stress yourself about something like that? For now we are focussing on Jason's heath, his immune system, his schooling and his eating. We need to do his operation as well which is something we could do without but something that needs to be done. We are scared of eating set backs, we are scared of him going under anaesthetic. We just rather go one day at a time and that is all we can do as parents to a very special little boy. A little boy that was loaned to us from God. A little boy that has made us special parents because he is so unique and special.