Hi , my name is Raylene. I am a mother of six, my husband's name is Phillip. We have six beautiful kids Melanie 16, Nicki 15, Maree 13, Sophie 11 , Evie, 5 and Phillip Ace (Acie) 2. Our youngest daughter Evie and only son Acie have been diagnosed with Glutaric Acidurea Type 1 (GAI).

When our last child Acie was born our family was finally complete - a son. It was the best day of my life - not that all my children weren't - it was just that my heart ached for a baby boy, well I got him!. It was a long hard labour till Acie arrived a healthy 91h 8oz. I cried all day because something in my heart was telling me not to get to close to him as I was going to lose him, and this feeling never left me. I never told anybody because they would probably think I was crazy.

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The Costi kids

Acie grew and developed normally for the first 4 months then he received his 4 month immunizations. By the time I came out of the doctor's Acie was holding his head slightly to the side, I told my husband on the way home. Over the next two months Acie began to look a little dreamy and quiet, but still trying to roll and do the normal things that six month olds do.

Over two weeks I went to see doctors just about everyday telling them that something was wrong. His temperature was up slightly, normally 36 to 36.7 celcius, one doctor laughed and threw his thermometer on the desk, which made me very angry. The other doctors did urine tests as Acie was screaming when he needed to wee and poo, the tests only to come back with lactose intolerant. Things weren't right but they couldn't find anything wrong. My nagging heart was racing every day, was I going to lose him now???

Then one morning I got up and Acie was very floppy and lethargic, dark under the eyes and just not my boy. I didn't stop to even give him breakfast because he wouldn't want it. I put him straight in the car to go back to the doctors, by the time I had got there the doctors had not yet come to work. I started to feel sick in the stomach so I put him back in the car and put my foot flat on the accelerator and sped of to the hospital all the time talking to Acie so he didn't go to sleep. He was getting very, very drowsy.

I ran into the hospital with Acie crying, he was just flopping over my arms but still awake. Just when we got Acie onto the bed he was screaming in pain and stiffening, he also had a red blotchy rash appear over the bridge of his nose and it spread slightly over his head and his trunk. The doctors treated it as if he had Meningtis and he was given an injection of Ceftriaxone.

Acie then slept stiff and only occasionally opening his eyes. I put him on my lap and cuddled him. He was sent for a CT scan and x-rays of his chest, I held him all the way because he was mine and I didn't want to let him go. Acie was still breastfed at the time and I would offer it to him when he did open his eyes, but he was too weak for a while.

After a while, Acie was sent up to kids ward at Cairns Base Hospital where he was connected to a IV. He was given Ampicillian every six hours and Gentimicon once a day. Acie never moved, he couldn't even move his hands. We sat on a rocking chair and he suckled all day long. His sucking wasn't well co-ordinated but was getting better as the days went on.

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A very cool dude

I think that breastfeeding helped Acie, and it helped me to to feel close to my baby boy who could hardly keep his eyes open. Day after day he was starting to get his sucking co-ordination back, besides the IV, this was his only diet. After three days the rash would come and go, stay three hours, then go. Why, we don't know. If I lay Acie on his back, he would throw out his arms and stiffen as though he was falling. He spent all day on my lap, feeding as often as I could get him to!

On day 8 he had a lumber puncture and nothing was found, a head CT revealed what we thought were Aracnoid Cysts. Acie was well enough to go home very weak, but with the only diagnosis of Cerabral Palsy. But Why???? It went through my head all day long.

Acie began to get a little stronger as the days went on, holding onto a bottle to have water, until he got the flu. Then he couldn't hold his bottle. We nagged and nagged till they sent us to Brisbane where we met Dr Jim McGill. Acie had EEG, MRI, bloods and so on ..........

Acie was sick at the time we went to Brisbane, another cold and he was very weak. Then came the bad news. They took me into a little room and Dr McGill told me that Acie would not get better and that he would only get worse, that he had a ressesive disorder. Well I don't need to tell you how I felt that day with no-one besides me in Brisbane, and a little boy looking me in the eyes with his beautiful big brown eyes. How could life be so cruel? To give you something so beautiful and so precious and then take it away from you again, not my baby!!

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Acie - lots of big sisters to spoil him!

All my life is devoted to my children and I couldn't live without them. Dr McGill organised for me to go home early so I could be with the rest of the family in Cairns, thank goodness!!! He would let Dr Warnock know the name of the condition and treatment as soon as he worked out which one it was.

I was so very lucky to have my husband waiting for us with the kids at home. He was the one who kept me going everytime he had seen me cry or fall into my 'end of the world' mood, he would talk to me and take all the pressure off by playing with the kids and doing silly things to make us laugh. He often went outside himself when he was feeling down so he didn't drag anyone down with him.

We received the diagnosis in March and were totally shattered again. We were also told that our other girls had to be tested as well. This was a very nerve racking time, everyone came back OK except for our baby girl Evie. She was also was diagnosed with GAI.

We always think why couldn't we have known sooner? This wouldn't have happened with Acie. But we owe a lot to Dr Jim McGill who diagnosed Acie early, because things could have been a lot worse. It can't be a easy job, you never realise how many disorders are out there till you have something happen to you.

Evie has been unaffected from GAI so far, touch wood. Acie has struggled back to occasionally rolling over and trying to walk when you hold him, though his legs go all over the place and he thinks it's brilliant! He gets that excited that he nearly jumps out of your hands. He can't sit or get much use out of his hands, but he does everything and more with his bubbly, happy go lucky personality.

He is a very bright, intelligent boy and often gets frustrated with himself, but never gives up trying. He will never give in even if he can't do things normally, he'll still have his determination and try something else. He told me "I LOVE YOU" while he was in hospital during a bad winter full of viruses. I couldn't believe my ears and asked him what he said and he repeated it "I LOVE YOU". Lucky the nurse Kim was there to witness it so it sunk in, that's all I needed to hear! He ocassionally says "Mum", "Dad", "Ugie" (his cat) and a few other words - on a good day!!

He still loves and enjoys his breastmilk and lets me know when he wants some by turning and licking my T-shirt. They eat a low protein diet, though not as low as some disorders, about 1.5 grams per kilo. They take L-Carnitine, riboflavin, a multivitamin and Evie drinks raw beetroot, carrot and celery juice with water. Acie occasionally!

When Acie is unwell and his head is burning hot I give him Robitussin cough mixture with dextromethorphorpan and after about 3 minutes his head seems to cool off. I don't know why, but it does. Sometimes when Acie is unwell we use the NG tube that I put in at home and give him some Energvit and polyjoule drinks. Although he still prefers breastmilk which is a very low protein source of milk. Some people look at me stupid and ask me why am I still feeding him, well it helps his co-ordination and some antibodies get through my milk. We'll have to think of another way of feeding when he gets too big for my knee!! Ha Ha!!

They are both exceptionally bright and very, very sensitive and full of love. They fill everyday with love and happiness. Their laugh is out of this world and lifts me up when I hear it. I realise we are not the only parents in this world going through what I thought was hell, but realise now that it is not hell, it's heaven. How could I have asked for anything better than the beautiful babies I have.

I certainly never dreamed of how many parents were in the same boat as me in the begining but I can certainly see now - parents help other parents and I had a wonderful lady named Kylie to help me. Now I've found all of you!! If I can help and anyone wants to talk with me, feel free anytime.

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Acie and Evie

Raylene Costi, North Queensland. September, 2002