Ruby Maree Kirwan - 1 Year Old
The 25th May 2009 at 17:07hrs. This is the day our lives would change forever and in more ways than we could have ever imagined. Our beautiful little girl weighed 3.61kg (7.95 pounds) and both Mum and Ruby Maree were doing fine.
We were home by Day 2 and the community nurse called on Day 3 to check how things were going. Normally this is when the heal prick test would be done but she had run out of time and said “not to worry these things never come back positive for anything” so we’ll try make time tomorrow. The blood sample was taken on Day 5, and was not immediately sent to the lab resulting in a further delay of the test.
Everything was generally good for the first few days. Ruby was a fussy feeder and Fiona was attending various breast feeding classes to try and overcome any problems in this area. On around day 7 or 8 we were becoming more concerned about Ruby’s lack of appetite. We had been referred to a breast feeding specialist who was concerned at Ruby’s back arching and the weird cry she was making. Ruby was referred to a chiropractor! to evaluate the back arching problem. On Day 10 Fiona took Ruby to the Chiropractor who believed he has found an issue with her back and booked further appointments.
I phoned Fiona to see how it was all going. She told me that Ruby had not eaten since that morning so we agreed to meet at the community nurses office for her scheduled checked up. Now anyone who knows me will suggest that I can be a bit of a drama queen, but when I saw Ruby I just knew something wasn’t right. Our community nurse also seemed very concerned but was not able to offer a reasonable explanation. Fiona and I both agreed that a trip to the hospital was now required. The local hospital was expecting us when we arrived. At the same time my mobile phone rang. Being in a highly stressed state, that phone was almost vaporised by my glare of anger at who could possibly be calling at this moment. I thrust the phone at Fiona for her to deal with as I doubted I could answer it without being very rude.
Whilst triage was doing the things they do I noticed that Fiona was still talking on the phone. I suggested she tell them to politely go away. This is when I noticed Fiona had gone white and was quite upset. The person on the other end of the phone was a metabolic doctor from the Royal Children’s Hospital and she had bad news. They had been trying to get a hold of us by calling area hospitals and had even sent a doctor to our home. They didn’t tell us what was wrong with Ruby, only that she was very sick and that they were sending an ambulance. The doctors at the local hospital were reluctant to answer any of our questions as they had never heard of MSUD. Ruby’s diagnosis came on Day 10 due to the failure to follow the correct protocol for newborn screening. They should have been able to tell us 6 days earlier.
A paediatric life support ambulance was called. Things where happening very quickly now and our nightmare had commenced. Our little Angel had become encephalopathic and was not responding. She was rushed to intensive care and was placed on coma inducing drugs and Haemofiltration. We were not allowed to touch or stimulate her as they wanted her brain to remain as unstimulated as possible.
We were taken to a room filled with people: metabolic section heads, fellows, dietitians and social workers. It was almost midnight and we were ready to explode. “Your daughter has MSUD she probably has brain damage but we won’t know to what extent for some time” is all I remember from that meeting. Ruby spent two weeks in Intensive Care. She had an MRI which showed “extensive edema in the myelinating pathways” or damage to her brain and had also ended up with a large clot in her leg from the haemofiltration.
We spent the next 12 weeks giving our little baby 2 injections a day of clexane to thin her blood. They even got this wrong. We received a phone call telling us that “Ruby has been receiving the wrong dose please don’t drop her or let her fall she could bleed internally!!”
We understand there are less than 12 MSUD people in Australia. We have never met any of them. Our system is not conducive to family support. I located a group through Face Book and more importantly a lady known as Barbara Mudrick. “Why don’t you come to America we’re having a symposium you could learn a lot”. My reply “geez thanks for the offer but it simply isn’t possible. The last 9 months have drained all our resources.” Barbara’s reply, “leave it with me I know a group that may be able to help.”
Fast forward: now Ruby is 12 months old and has had her fair share of complications and hospital visits. Barbara has been true to her word. Through the MSUD family support group, Wayne and Joyce Brubacher and a private backer “Janine”, I’m on an aeroplane and on my way to Chicago for my first Symposium.
My first big trip, 20hrs of plane travel, wow! Who are these people? The symposium was simply the best thing that has happened for our family in the last 12 months. In addition to our battle with MSUD I had been laid off my job 4 weeks prior to departure, but we pushed through and here I was in Chicago! I met a lot of people at the symposium and I simply can’t mention them all but you know who you are. I asked lots of questions that only you guys could answer. Diet, “G” tubes, education, social interactions, babies, the list goes on. I think the best part of this was meeting people with MSUD and knowing that medicine today is leaps and bounds better than 6yrs or 53yrs ago. Ruby has weekly heel prick tests and we also have DPNH at home for early detection of high levels. We are very lucky here in Australia as all special food is imported from America and is subsidised by the Australian government. We have been very happy with Ruby’s development to date. She started walking at around 11months and doesn’t seem to have lost anything to the kids at day care or mothers group. We have real hope for Ruby’s future now. Meeting mums, Uni students, Uni grads and hard working MSUD sufferers has really helped.
We are in the middle of winter here which is very mild compared to Chicago but it is playing havoc with Ruby. She has been basically unwell with some sort of illness now for around 3 months. We battle on and keep a close eye on her levels. We know we will get there, especially now with the network of people we can draw on for advice.
Fiona, Ruby and I would like to thank everyone involved with the MSUD family support group, Joyce, Wayne, Janine and Barbara for every thing they have done and all the support these guys receive to make every thing happen.