Our Kids  /

Luca, Davide and Simone


Luca, Davide and Simone

Propionic Acidemia

Writes Daddy (Massimo):
This is the story of a mommy and her three little children. We wish we could write for a long time on, and also write a fourth story in the future. I don’t know if we succeed, but we want to do all our best, and we’ll do any sacrifice needed, because the joy that we had in our life, beneath all the pain and sorrow, is and will always be priceless and gave sense to our life and to our marriage.
Writes Mommy (Paola):

When Luca was born, October the 23rd 1992, everything was ready: a nice room, nice clothes, chosen for months before and most of all love and will of embrace him. He kept us waiting for ten days after the end of pregnancy and had a hard time while coming out, and the doctors took the cupping-glass to help him. All this pain was quickly forgotten. Luca was really a nice baby boy weighing 3.7 kg (8 lbs., 2 oz). We spent the first day at hospital adoring him and I was keeping him tight – it was my first child and I couldn’t believe keeping and embrace him. I was really an happy mom.

All this last only one day and then the hard life and the pain came. Luca and I were carried quickly to the Neonatal division of a bigger hospital. Everybody wanted to assure me that it was something that was going to solve soon, but no-one really knew what was happening to Luca. It took one and a half days to find out that it was probably a metabolic disease – Propionic Acidemia. It was only three days since his birth day, but these three day without a cure were too much. I understood by myself what no-one had the heart to say “Luca was in coma.” His nice room and clothes were useless now, the only thing I could give him was love, because we really knew almost nothing of the disease. It took a few days before Massimo, the grandparents and I accepted this disease, and it wasn’t that easy. Luca was in the incubator, full of wires and tubes and tube fed. 

In the next days I learned to put the tube through the nose and throat, because this tube, as the doctors taught me, was the only thing that could save him with an ipoproteic (low protein) diet. He didn’t like eating from the bottle and he was vomiting very frequently, and each day tube-feeding was needed. Unfortunately Luca couldn’t stand it. The first days suffering, plus a couple of days with the pump not working (and no alarm sounded and no-one looking at the bottle!), were to much for my baby boy. After 46 days he died at the hospital of an acute episode of organic acidosis. Nobody, even the doctors, could explain a sudden death like that. Luca was coming home in a few days, it was already planned.

I was really desperate, but when one year after Davide was born, I understood that the great sacrifice of Luca was not useless. This genetic, autosomic recessive disease could arise every time.

It was November the 24th of 1993 when Davide was born, he weighed 3.9 kg (8 lbs., 9 oz.), looks really like Luca and was the picture of health, but after one and a half day started with the first symptoms of Propionic Acidemia. Needless to say our fear for the future.
Davide should not die and, from that day on, we are still fighting for that and to give him an happy and serene life. Thanks to the prompt medical care Davide had no crisis and with the help of night tube feeding and day bottle feeding, he was growing regularly. He took my milk (he was not breast fed,) and at the beginning he was really a great eater. When after one and a half months came home from the hospital, things were going well. We had our weekly hospital visit with blood and urine tests. This for Davide became soon unbearable (being fatty the blood test was made from the neck vein and he was kept tight by two people). We are still working now to get rid of the fear and mistrust he has for the other people (for example – we cut his hair with the machine, because he doesn’t like to enter the barber shop!).

At the fifth month things got worse. After a visit in Paris, to the best European center for metabolic disease, we stopped with the night tube feeding. Davide gradually stopped eating by mouth. After 15 days at hospital trying to make him eat different food from my milk, we came home full of sadness, tubes and syringes, ready to start this new experience, that life reserved for us.

With pain and uncertainty, Davide was growing, this life full of tubes, syringes and night pump. It was very difficult as he vomited. We have to thank grandparents that were with us and helped us practically and morally.

With all this Davide was always happy and smiling. I thank God for this. His little angel was helping him and gave him a really good character. He made physiotherapy to diminish the hypotony and when he was two years old started walking. The language came a little later too, but he was very smart and intelligent and this was encouraging. Time was passing, but eating by mouth was still a dream. At two and a half years he started to drink water (still now it is the only liquid drink accepted) and at 3 we started logopedy and other playing activities in a children specialized center near home. We always kept Davide with attention and care, limiting winter contacts with the others to avoid flu and fevers, and also the way he was eating, limited the social aspects with the others. Now it was time to open the real world to him. He was a little boy like all the others with the right to live and have fun. At the beginning it was difficult for him to accept teachers, even if the only try to make him play, he was still afraid of doctors and strange rooms. 

As usual, time and patience solved a lot of problems, moreover taught by a good psychologist, we learned to be open with him, and to talk with him, and to tell him his story, and to explain to him the way we took him there. This worked well and he accepted this in a positive way. His resistance was less and was less defensive with the other people. With time he started speaking better and now is only a few below the level with the fine motor skill, while gross motor skill and language are ok. We learned the importance of telling the truth always to children, even if when it sounds difficult. They know how to take it and their easy way to accept it is really helping us to accept it better.

On January 3rd 1998, as promised, Davide make the bigger step: as my birthday present, he started to eat by mouth. The joy was immense and now after almost one year, he makes four meals per day, without the tube (it’s used only when he has fever or flu). His meals are still liquid (milk, fruit juice and caloric formula), but for now it’s ok (by the way for my next birthday he promised to start solid foods, like rice and pasta). He’s going to pre-school morning and afternoon, coming home for lunch. Obviously contact with the other children raise the chance to get flu and fevers and this means that he’s going to school one week and is home next week. We know that many difficulties will come again, but we are full of hope and we really trust our little boy, little but so big to accept all the rules of a difficult life, full of time schedule and food schedule. We are really proud of him and love him so much.

But hand in hand with Davide, watching over him, besides Luca, there’s one more little Angel. Simone was born on July the 15th 1996, when Davide was almost 3 years old; he weighed a little more than 4 kg (8 lbs., 13 oz.) all precautions were taken and when the doctor gave us the usual diagnosis, I took it well, with no more despair. Davide was growing, and Simone would have grown too – at least two little brother with the same problem could help each other in the future. But one thing worried me a lot – Simone had a little cleft in his soft palate. A very little problem, doctor said, a simple operation at one year, and everything would be ok. But this little thing once more gave us sorrow, pain and sadness. This “little hole”, as we called it to make Davide understand it, prevent normal suction, moreover putting into direct connection nose and throat, made it easy to get flu, ear’s and throat’s ache. At one year it was planned the surgery, and after a lot of checks, full of doubts and fears, we decided to take him to Paris since it was the best for metabolic diseases.

I was really frightened for this travel and in my heart I felt that I had to enjoy my baby throughout this first year and so in my mind I kept freezing every moment spent with him, every progress and every pain. With his birth he gave a big present to all of us – a big help to Davide who, responsible for the fact of being the bigger one, made a lot of progress (even from before Simone was born); a big joy to daddy who, with two males, was thinking of future tennis matches with them; big happiness to grandparents who, proved by sacrifices and pains saw in this new boy the start of a new hope – and to me he made his best present – his two lively and happy eyes, framed by a lot of curly brown hair, always followed me with love, making me feel protected and his quick legs make his go-cart run throughout home remind me his presence in every moment.

Simone was really “special”, as I always said to grandma. He didn’t look that much hypotonic, and while depending from the tube, he was always moving, making him look stronger than Davide. The Doctor was optimist and used to say that, after the cleft problem was solved, he’d have started eating by mouth.

I left to Paris with death in my heart. Davide and two grandparents came with us, and it was not easy to organize that travel.

All that Simone underwent in those two weeks was indescribable and I remember his sad and frightened eyes imploring to take him back home; I couldn’t do anything to him, but loving and holding him tight. Last time that me and Massimo saw him happy was before entering the surgery room, sit on the bed in his yellow jacket, he was still smiling and giving us strength, instead of asking our help. Surgery apparently went good, but when we came home from Paris he had cleft ache and his arms were blocked by two piece of woods to prevent him putting his hands in the mouth. The next two months were hallucinating.

Simone didn’t recover completely, he couldn’t eat from the bottle anymore (only spoon was allowed, but swallowing was a great pain for his cleft), his blood and urine test were almost fine, but every day he was vomiting (we made him vaccination, too, because doctors said that this wouldn’t have hurt him). On the night of September 28th 1997 Simone suddenly died, his heart stop, in my arms, and I’m still thanking him for giving me even this last moment of his life. The emptiness that he left is still and will always be unfilled, but I’m sure that he and Luca are always here with us. I always tell Davide, who was really shocked by the missing of his adored little brother, that he’s a very lucky boy: it is so rare to have two Guardian Angels and that he has to be happy for that: he’s very comfortable with the presence of his two brothers and often, I find him playing with them and telling them stories and it touch my heart.

I’m really happy with my three children and I won’t change them with any other.

Paola & Massimo

From the January 1999 OAA Newsletter

Select Language
%d bloggers like this: