​Kristen & Aimee

Isovaleric Acidemia

Hi I thought it was about time I told our story. My name is Liz and I have 5 children, 3 boys age 27, 21 and 20 and 2 girls age 19 and10. Both my girls have IVA. Our story started when my youngest daughter Kristen was 6 weeks old. I had a normal pregnancy and birth and she was a good baby with no health problems that we were aware of. Then at 6 weeks she stopped breathing and was rushed back to the Women’s and Children’s hospital in Adelaide where she was born. After a few tests we were told that she had severe reflux which caused her to stop breathing and that we could treat it with medication to try to ease it. We were also told that her Guthrie test had come back and showed that she had a rare metabolic disorder and that she would have to have more tests and start on medication straight away. We were very scared as we had never heard of anything like this and didn’t know what to do.

​Kristen was admitted and was started on glycine. She had a skin biopsy done to confirm the diagnosis. The doctors, nurses and dietitians were all fantastic explaining everything over and over so we could understand everything we were getting told as it was a great deal to take in. Everything seemed to be going ok when she suddenly had her first “floppy”. No one knew why she started having these episodes and after a lot of tests we were told they should stop as she got older or would turn into seizures. Luckily they did stop when she was about 4 but she would have them quite often sometimes lasting for 30 minutes until then. It was a shock for people to see her go unconscious in our arms with her eyes rolled back but we got used to it and knew it was o.k. We were in hospital for 2 weeks that first time.

When we got home we looked up her disorder and found as much information as we could to find out what we should be doing to help her. My oldest son has chronic renal failure so we were used to having a sick child with special needs but it was still scary. We were in and out of hospital the first couple of years as even a runny nose made her very sick. Luckily my parents took over caring for my other children so that I could stay in hospital with her. God bless them.

Because it is genetic the doctors wanted to test me and my other children even though the other kids had a different father. We didn’t think there would be a problem so were really shocked when the tests came back and they showed my other daughter Aimee had the same thing. Looking back she did show signs. She went off milk at an early age and every time she ate meat she would get really bad stomach aches and would feel sick.  Aimee also had a skin biopsy and was put on carnitine but has had no real crisis although she has got very sick at times. The girls love the fact that they have matching scars and they support each other and are very close.

Kristen was put on carnitine as well as glycine and that helped settle her levels. She has had many illnesses and has missed a lot of school but is doing really well. We find that winter is the worst time as she suffers from bronchial asthma a lot but we now get through most illnesses at home without being admitted to hospital now.  She still gets sicker more often than most kids but we deal with it.  The last 2 years she has had several bouts of bronchial asthma as well as whooping cough, swine flu and a flu virus and rino virus together with only 2 nights in hospital. She has had 4 lots of grommets put into her ears as she was having hearing problems and has had her tonsils out but she got through all surgeries with no problems. She also has an extra tube in her kidneys so has a few urine infections.

We have been through so much with Kristen but she deals with it all so well. She knows what she can eat and what she can’t and it doesn’t worry her. She loves cooking and making meals that we can eat together. Her brothers and sister and family love her and spoil her rotten as they know how lucky we are to have her with us and healthy most of the time. Kristen is a loving, caring, friendly little girl who loves animals and doing crafts and spending time with her family.

We are so lucky to have a great team of doctors and dietitians who have really done everything they can to help Kristen and keep her healthy. They are on call whenever we need them even if it’s just a question or to check what to do when Kristen is sick. I am so lucky to have these special kids in my life. They have given me so much love and joy and make me appreciate every day. My eldest son should have needed a transplant years ago but has just become a father to a beautiful healthy little girl, Aimee is working in child care and studying for her diploma, Kristen is doing really well at school and is such a good girl and my other 2 boys William and Ben are doing well, working hard and are happy. What more can a mother ask for? Having a child with special needs is not a burden but a privilege and one that I will always be grateful of. I am also very lucky to have such great support especially from my mum and fiancé Mark. Thank you to everyone for the love and support we have had and still continue to have we love you all…
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Liz, Australia
From the Winter 2011 OAA Newsletter