Today, the 28th of February, marks International Rare Disease Day. By creating awareness we can try to increase the much-needed support for people living with rare diseases. This is the twelfth International Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of patient organisations from countries and regions all over the world will hold awareness-raising activities.
Living with Rare Disease
Before being thrown into the deep end of parenting a child with a rare disease, I had no idea of the vast number of rare diseases that existed – over 6000 existing rare diseases. I was faced with trying to arm myself with knowledge about my sons condition while worrying about prognosis and quality of life. It’s not exactly how any parent imagines parenting life to be.
Sadly, there is no cure for most rare diseases, but the appropriate treatment and medical care can improve the quality of life and extend life expectancy of those affected.
To offer a little insight into the world of rare disease, I spoke to 6 families and asked them a few brief questions about their children and the rare disease they live with. Having a good understanding of what life can be like for these families, I kept the questions short but it will allow you, the reader, to get a little wisdom about the various disease of this very small selection of children and the challenges they face.
Interviews
What is your child’s name and age?
Gabriel Bugeja: 3 and a half years old
Briefly describe your child’s condition.
Congenital Hydrocephalus also referred to as water in the brain.
What statistics do you know about your child’s condition?
There are very different levels of hydrocephalus, you can either be born with hydro, have a shunt inserted and live a “normal” life, or else like in Gabriel’s case, the excess water does not let the brain develop properly, this leads to multiple complications and problems.
Do you know of any other children in Malta with the same condition? And in the world?
I have met children with similar conditions to Gabriel, however it is very rare that the children all have same part of brain missing. I am also part of a Facebook group for people with hydro and have a few friends in the USA whose children have similar problems.
What is the biggest challenge that you face on a daily basis with your child?
Not enough knowledge on the case in-itself, there are different therapies all around the world to help children like Gabe however we in Malta do not have that many. Also, due to hydro, Gabe is visually impaired and so that also is a huge challenge for us, but we are making it work. All the therapy he needs is very expensive so that is a challenge as I would like to add more sessions however it is very difficult.
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What is your child’s name and age?
Nick Cutajar: 2yrs 8mths
Briefly describe your child’s condition.
DiGeorge Syndrome is a primary immunodeficiency, characteristic facies, congenital heart disease and hypocalcemia. When Nick was born, he was diagnosed with a tetralogy of fallot (congenital heart defect), hypocalcemia (low levels of calcium in blood) and athymia (absence of thymus gland), the latter leading to the diagnosis of Complete DiGeorge Syndrome.
What statistics do you know about your child’s condition?
DiGeorge Syndrome affects an estimated 1 in 4,000 people. Complete (no thymus) DiGeorge Anomaly is approximately 1% of patients with DiGeorge Anomaly.
Do you know of any other children in Malta with the same condition? And in the world?
Nick was the first Maltese patient that underwent a thymus transplant. There are only 2 centres in the world offering this type of transplant; Duke University (USA) and Great Ormond Street Hospital (UK). There were 32 patients in Europe and approximately 80 patients in USA who have had this transplant.
What is the biggest challenge that you face on a daily basis with your child?
Feeding difficulties are very common in DiGeorge patients which may occur because of gastroesophageal reflux. Feeding Nick is one of our biggest daily challenges as well as trying to keep him safe from viruses and infections due to his impaired immune system.
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What is your child’s name and age?
Andrea De Gabriele: 1 year and 2 months old
Briefly describe your child’s condition.
Andrea has been diagnosed with GM1 gangliosidosis (Type 1) which is a progressive neurological genetic disorder caused by the absence of a vital enzyme that damages nerve cells in the brain and spinal cord. His condition became evident at the age of 5 months. At first he appeared to be normal until his development slowed down and muscles used for movement weakened. He also developed an eye abnormality called “cherry-red eye spots”, weakened muscles and breathing difficulties.
What statistics do you know about your child’s condition?
From information gathered from local doctors and professors, such condition in Malta is evident in one child every 2 years. In Malta, the discovery of such condition dates back more than 40 years.
Do you know of any other children in Malta with the same condition? And in the world?
Currently, Andrea is the only diagnosed patient with GM1. We know other families which had children with GM1 however unfortunately they passed away. Attending a symposium last October in Irvine California organised by the Cure GM1 Foundation, we encountered families from different countries having children with GM1 particularly from Australia, United States, United Kingdom and Italy.
What is the biggest challenge that you face on a daily basis with your child?
The biggest challenge is the anxiety such condition brought with it. Being a progressive disorder and as explained above that symptoms deteriorate by time, we are living day by day.
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What is your child’s name and age?
Henry Mamo: 6 years old
Briefly describe your child’s condition.
Henry was born with a condition called Prune Belly Syndrome, also known as Eagle-Barrett syndrome. The syndrome is characterised by a lack or absence of abdominal muscle, with urinary tract abnormality and cryptorchidism. The condition causes the skin in the abdominal area to wrinkle and appear to be ‘prune-like’. Because of the lack of development of the abdomen, the organs in the abdominal area inherit this lack of development – bladder, testicles, kidneys, ureter giving rise to other conditions like chronic kidney disease as was the case for Henry.
What statistics do you know about your child’s condition?
Prune Belly syndrome is most common in males and occurs in approximately 1 in every 40,000 births. There is a wide spectrum of the severity of the condition, however a large percentage of babies born with PBS are stillborn (due to severe lung and kidney abnormalities) and another large percentage don’t make it past the age of 2. The symptoms vary from one child to another. In the very low end of the spectrum a child may never need any medical intervention and only some monitoring for urological problems, while children on the other end of the spectrum of the condition have severe kidney and/or pulmonary problems with about 30% requiring a kidney transplant in their lifetime.
Do you know of any other children in Malta with the same condition? And in the world?
To my knowledge, there are no other children in Malta with Prune Belly Syndrome. There are many recorded cases of Prune Belly Syndrome in Uk, however numbers have decreased in recent years due to the fact that if PBS is detected in utero, termination is recommended. A higher percentage of PBS cases are recorded in the United States where research continues and conferences are held every year bringing together survivors of PBS from all over the world.
What is the biggest challenge that you face on a daily basis with your child?
Henry is used to and knows that his daily medications and treatments (catheters and antibiotic bladder washouts) are his normal but as any normal child, a little rebellious nature comes out from time to time when he doesn’t feel like co-operating. Due to Henry’s recent kidney transplant, his daily fluid target is vital to his well being, but the target is quite high for a child so we struggle with that every day. It is also very challenging staying infection free. What is a simple cold to anyone else usually results in a hospital admission for Henry. This time of year is especially difficult with the numerous bugs gracing our island, schools and public spaces.
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What is your child’s name and age?
Javier Micallef: 11 years 10 months
Briefly describe your child’s condition.
His condition Is Rhombencephalosynapsis. Rhombencephalosynapsis (RES) is a sporadic cerebellar malformation characterised by partial or complete absence of the cerebellar vermis and apparent fusion of the cerebellar hemispheres. RES can be seen in isolation or in combination with other brain malformations and malformations outside the nervous system.
What statistics do you know about your child’s condition?
From 1914 till 2014 only 50 cases around the world where reported. The disease occurs mostly in boys.
Do you know of any other children in Malta with the same condition? And in the world?
Javier is the only one in Malta and only 3 cases in Europe. We had the chance to meet with a boy with RS when we were in the UK.
What is the biggest challenge that you face on a daily basis with your child?
The biggest challenge is his behaviour. Especially feeding and when we don’t understand his needs. Hospital is the worst challenge as well.
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What is your child’s name and age?
Jamie Salafia: 5 years old.
Briefly describe your child’s condition.
Mitochondrial disease actual gene defect only at this point suspected to be EARS2 gene defect. Jamie has intellectual and motor global delays and parts of his brain missing.
What statistics do you know about your child’s condition? Do you know of any other children in Malta with the same condition? And in the world?
I was told at Great Ormond Street Hospital (in London) that there is one other boy in Malta with same gene defect but did not result in the same condition as in my son. It is very rare – few thousand in the United States of America.
What is the biggest challenge that you face on a daily basis with your child?
It involves daily therapies of all kinds since his delay is global. He needs 1 to 1 LSA at school, constant attention, help with walking and feeding and he is still doubly incontinent.
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What is your child’s name and age?
Jake Vella: 9 years old
Briefly describe your child’s condition.
Jake’s condition is ROHHADNET – Rapid Onset Obesity, Pulmonary Hypoventilation, Hythalamic, Autonomic dysregulation and Neural Tumors. As one can notice from its name, the condition is very complex, and not all children are affected in the same ways. All this even brought about major behavioural changes in Jake. However, the most crucial aspect which affected Jake is the obesity where he gains uncontrollable weight, irrespective of the healthy diet he follows. As a result of the severe obesity, Jake sleeps with a bi-pap and oxygen. Jake also has a benign tumour next to his spinal cord.
What statistics do you know about your child’s condition?
Rohhadnet is very rare, with only 100 reported cases worldwide, thus far.
Do you know of any other children in Malta with the same condition? And in the world?
To this day, there is no one in Malta diagnosed with the same condition as Jake. What keeps us sane is the fact that we can communicate with other parents of children with Rohhadnet around the globe, via a closed group on Facebook.
What is the biggest challenge that you face on a daily basis with your child?
The biggest challenge on a day to day basis is hyperphagia; uncontrollable hunger, and since Jake is only a child, sometimes it is difficult for us to convince Jake to avoid some food, and opt for other healthy, filling, nutritious food. Also, to make sure that Jake doesn’t get sick, we avoid going in places where there are large groups of people, since a common cold on us, might be fatal for Jake.
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I want to thank all the parents that took time out of their busy and challenging days to reply to my questions. I also want to thank the ones that did not manage to reply and I really appreciate the effort that was made to participate. I know all too well what it’s like to try to accomplish so many things in a day and care for our children.