Victor, Isovaleric Acidemia, 2 years old
Victor was born on the 8th of June 2019, weighing 3430g and measuring 50cms. At birth, detected beforehand with ultrasound, he had a small VSD (hole in the heart), which later closed over. That ‘minor’ problem became the least of anyone’s concerns, after we were called in to our local hospital on Day 11 for a repeat NBST, as his first one returned an abnormal result. On Day 12 the hospital called us back in again for him to be admitted, breastfeeding was ceased immediately, he was catheterized and put on a drip, then the next day we were flown to Westmead’s Sydney Children’s Hospital, where we received the shock of his diagnosis.
Victor has a rare genetic metabolic condition - Isovaleric Acidemia (IVA). The incidence of IVA in Australia is approximately 1 in 200,000 births. It occurs due to an autosomal recessive gene being passed on to the offspring by both parents. A person with IVA is lacking a particular enzyme needed to break down one of the essential amino acids (leucine) in food. The enzyme defect results in the accumulation of isovaleric acid and other metabolites in the blood and urine which are toxic and harmful to the brain. If left unmanaged, this may lead to the person having a metabolic crisis as well as causing brain damage. The aim of treatment of IVA is to keep the accumulation of isovaleric acid as low as possible by ensuring adequate intake of energy and providing a diet with a moderately decreased protein intake.
We spent 5 days in Westmead where Victor was carefully assessed through daily blood tests. He was started on metabolic formula, Energivit, which he still takes to this day to supplement his diet so that he meets all of his nutritional requirements. By the end of the 5 days I was allowed to recommence breastfeeding which I continued to do for 11 months. 4 months down the track, he was also having some regular supermarket grade formula, as blood tests indicated that he was able to handle, and needed, higher levels of protein in his diet.
At present, he is allowed one high protein (5g) serve per day, with the rest of his daily food intake being of low protein sources which don’t have to be weighed. In addition to this dietary protein restriction, Victor takes 12ml per day of L-Carnitine which helps his body to excrete excess Isovaleryl CoA. We attend clinic with the Metabolic Team at Westmead every 6 months where they monitor his blood amino acids and carnitine levels but since the COVID pandemic began, this clinic is conducted by Telehealth Conference from my home and his bloods are taken from our local pathology centre and sent down to the team at their Westmead surgery.
The danger for him is if he becomes sick with either a high temperature, vomiting or diarrhea, this can lead to him breaking down his own body protein, causing an overload of toxic metabolites. When this happens, the on-call Metabolic Doctor is phoned immediately and Victor’s ‘unwell’ feeding plan is followed where protein intake is restricted even further and calories are increased until he becomes well again and his normal eating patterns return. He has had a couple of respiratory infections in his life with no adverse effects and just one hospitalization when he had vomiting and high temperatures. Once again, our local hospital liaised with the Metabolic Team and they worked closely together to restore Victor’s health. We are so grateful to have the Westmead Metabolic Team managing Victor’s life and know we can contact them at any time with any concerns that may arise as he grows.
Victor’s initial diagnosis came as a shock, as none of our family had ever heard of such a condition. Not to mention, he is my first and only child and I was/still am a single mother. I didn't break down and cry though, as I felt that would be of no use to Victor. There was no other choice but to accept the hand we had been dealt, learn as much as I could about the condition and try to do my absolute best to take care of him by following the Metabolic Team’s directions and ensuring he gets what he needs, medication-wise and nutritionally.
We also have wonderful family support which I am so grateful for and lucky to have. I cannot imagine our IEM journey without their ongoing love and support – shout out to Mum, Wendy and sister Biggle, who have dropped everything to come to our aid in times of need. To my other sister Vv, for all her help during that first 12 months that we were living together. Also to the men, they know who they are.
As for Victor's special diet it was no adjustment or cause of added stress for me, as I was already eating mostly plant-based well before Victor was on the scene. I am also a huge foodie and love cooking from scratch, so after endless recipe hunting for low protein options and finding the right substitutes for certain ingredients, it is always a pleasure to throw together something delicious for us to both share and enjoy. Mum also grows beautiful veggies, so I am never short of quality organic produce. We also never leave home without a snack pack of yummy home-made Victor-friendly nibblies.
He recently started two days per week of day care to have some added stimulation and socializing. The centre supplies his food and they have been most accommodating of his needs. He eats only low protein foods while there and I save his high protein serve to have at home, where I can monitor how much he has eaten.
At almost 2 years of age, Victor is happy, healthy and unstoppable. He loves his food and play and keeping the family on all of our toes. I couldn’t feel happier or any luckier for all the love, joy and life lessons this little human being has brought and continues to bring to our lives.
Shannon
cricketbrazier@gmail.com
Orange NSW 2800 Australia
From the Summer 2021 OAA Newsletter
Victor has a rare genetic metabolic condition - Isovaleric Acidemia (IVA). The incidence of IVA in Australia is approximately 1 in 200,000 births. It occurs due to an autosomal recessive gene being passed on to the offspring by both parents. A person with IVA is lacking a particular enzyme needed to break down one of the essential amino acids (leucine) in food. The enzyme defect results in the accumulation of isovaleric acid and other metabolites in the blood and urine which are toxic and harmful to the brain. If left unmanaged, this may lead to the person having a metabolic crisis as well as causing brain damage. The aim of treatment of IVA is to keep the accumulation of isovaleric acid as low as possible by ensuring adequate intake of energy and providing a diet with a moderately decreased protein intake.
We spent 5 days in Westmead where Victor was carefully assessed through daily blood tests. He was started on metabolic formula, Energivit, which he still takes to this day to supplement his diet so that he meets all of his nutritional requirements. By the end of the 5 days I was allowed to recommence breastfeeding which I continued to do for 11 months. 4 months down the track, he was also having some regular supermarket grade formula, as blood tests indicated that he was able to handle, and needed, higher levels of protein in his diet.
At present, he is allowed one high protein (5g) serve per day, with the rest of his daily food intake being of low protein sources which don’t have to be weighed. In addition to this dietary protein restriction, Victor takes 12ml per day of L-Carnitine which helps his body to excrete excess Isovaleryl CoA. We attend clinic with the Metabolic Team at Westmead every 6 months where they monitor his blood amino acids and carnitine levels but since the COVID pandemic began, this clinic is conducted by Telehealth Conference from my home and his bloods are taken from our local pathology centre and sent down to the team at their Westmead surgery.
The danger for him is if he becomes sick with either a high temperature, vomiting or diarrhea, this can lead to him breaking down his own body protein, causing an overload of toxic metabolites. When this happens, the on-call Metabolic Doctor is phoned immediately and Victor’s ‘unwell’ feeding plan is followed where protein intake is restricted even further and calories are increased until he becomes well again and his normal eating patterns return. He has had a couple of respiratory infections in his life with no adverse effects and just one hospitalization when he had vomiting and high temperatures. Once again, our local hospital liaised with the Metabolic Team and they worked closely together to restore Victor’s health. We are so grateful to have the Westmead Metabolic Team managing Victor’s life and know we can contact them at any time with any concerns that may arise as he grows.
Victor’s initial diagnosis came as a shock, as none of our family had ever heard of such a condition. Not to mention, he is my first and only child and I was/still am a single mother. I didn't break down and cry though, as I felt that would be of no use to Victor. There was no other choice but to accept the hand we had been dealt, learn as much as I could about the condition and try to do my absolute best to take care of him by following the Metabolic Team’s directions and ensuring he gets what he needs, medication-wise and nutritionally.
We also have wonderful family support which I am so grateful for and lucky to have. I cannot imagine our IEM journey without their ongoing love and support – shout out to Mum, Wendy and sister Biggle, who have dropped everything to come to our aid in times of need. To my other sister Vv, for all her help during that first 12 months that we were living together. Also to the men, they know who they are.
As for Victor's special diet it was no adjustment or cause of added stress for me, as I was already eating mostly plant-based well before Victor was on the scene. I am also a huge foodie and love cooking from scratch, so after endless recipe hunting for low protein options and finding the right substitutes for certain ingredients, it is always a pleasure to throw together something delicious for us to both share and enjoy. Mum also grows beautiful veggies, so I am never short of quality organic produce. We also never leave home without a snack pack of yummy home-made Victor-friendly nibblies.
He recently started two days per week of day care to have some added stimulation and socializing. The centre supplies his food and they have been most accommodating of his needs. He eats only low protein foods while there and I save his high protein serve to have at home, where I can monitor how much he has eaten.
At almost 2 years of age, Victor is happy, healthy and unstoppable. He loves his food and play and keeping the family on all of our toes. I couldn’t feel happier or any luckier for all the love, joy and life lessons this little human being has brought and continues to bring to our lives.
Shannon
cricketbrazier@gmail.com
Orange NSW 2800 Australia
From the Summer 2021 OAA Newsletter