Case History: Melanie Diaz

Madrid, Spain

Melanie Díaz-Side was born on January 31st, 1995.

At the beginning, both tests and the pregnancy course were entirely within the normal. It was just one more pregnancy.

The day when Melanie was born, we were expecting an enormous baby girl, since I had gained a lot of weight during the last months of pregnancy. However, she only weighted 2,600 grams and measured 45 cm. long.

As soon as she was born, she did not stop crying. She was a baby with enormous eyes and very alert. She refused breastfeeding. The doctor told us that this could be due to the fact that she had little strength in her jaws and so she became tired easily; so we had to help her with bottle-feeding.

After three days, she was discharged, although we had to come back for the first pediatric revision. Melanie had lost weight. The doctor told us that this was abnormal, and changed her milk formula. She also had loose stools. After changing the milk formula several times, the doctor advised us to take Melanie to the hospital, since she continued to lose weight and was a little jaundice. Fifteen days later, she had an upper respiratory track infection.

Melanie was one month old when she was hospitalized at the "Severo Ochoa" Hospital in Leganés (Madrid), for a study of her anorexia and severe malnutrition. Without having reached any conclusion, some months later Melanie was transferred to the "Doce de Octubre" Hospital in Madrid, where she remained hospitalized. They performed all kind of tests on her: analyses, scanner, skin biopsies, etc. However, Melanie went on without gaining any weight. She was still far too small for her age and she took too many medicines.

In the hospital room, I realized that all other babies did many things, like startling at sounds, tracking objects with their eyes from side to side… and Melanie didn’t. After telling the doctors and performing the corresponding hearing and vision tests, they confirmed what I was fearing so much: Melanie was four months old and she was deaf-blind.

She continued to refuse eating and they had to use an intermittent tube to feed her. There was a point when she was so used to the tube that she didn’t want to do any effort. Later, she didn’t bear fasting and had to be fed continuously by the tube with a machine. She had severe liver disease and was very jaundice.

The doctors didn’t take long to tell me that they felt they already knew the disease that Melanie suffered from. We should be transferred to the "Vall d’Hebron" Hospital in Barcelona and, once there, we should contact Dr. Manuela Martinez in particular. It was a peroxisomal disorder.

Once there, the "Doctora" found her very ill. I believe she though that it was a very difficult case. However, she gave us hope when she said that Melanie was in time to receive the treatment: the miraculous DHA. I say "miraculous" because, only a few weeks after her hospitalization, Melanie could leave the tube and be fed by mouth. And not only liquid food, but also solid.

I couldn’t believe what was happening. She started to gain weight little by little. She appeared happier and very eager to live.

Coming home was something new for her, but she got used to it very soon. We continued with her periodical medical controls at the "Doce de Octubre", where they did analyses and sent blood to Dr. Martinez. Every two months we traveled to Barcelona. (Currently, those visits are every six months). She still had a bigger than normal liver and she couldn’t take green leave vegetables.

At one year old, Melanie started to receive one hour of early rehabilitation, twice a week. Later on, thanks to swimming, we noticed a slow but pleasant improvement.

We registered her at the "ONCE" ("Organización Nacional de Ciegos de España", National Spanish Blind Organization) school, where she could not enter until she was six years of age. In the meanwhile, she went to the "Ponce de León" School, an institute for deaf people, were she started to work on psychomotor techniques, speech therapy, sign language, etc.

During two years, I attended sign language lessons, so that I could communicate with her and teach her to do the more basic tasks, like cleaning herself, going to the toilette, etc. The latter has not yet been achieved though, since at eight years old Melanie still wears nappies.

Melanie started to have epileptic attacks in the year 1996, due to her disease. The seizures started to diminish with a treatment. However, due to Melanie’s progressive gain in weight and growth, treatment often became short, and we had to increase the doses or change the therapy. Even now, she has small spasms lasting only thousandths of a second, but quite continued, when she gets up, although they cannot be compared with the seizure attacks she had years ago.

She started to walk independently at almost three years of age, although we had to put special soles in her shoes because she had flat and externally rotated feet. At this age, she was also operated on. She had her tonsils removed; something that in principle didn’t seem to be complicated. However, she had blood coagulation problems and had a hemorrhage a few days later. After a while at hospital, we came back home. Melanie is a child who adapts very well to changes. At six years old, she starts to attend the "ONCE" school, in the deaf-blind module specialized in her problems. Little by little, she understands some sign language, and she walks quite well with her orthopedic shoes, although her balance is not perfect.

Currently, you can see surprising progresses in her. She wears hearing aids, although she does not bear them all day. Thanks to them, however, she pays more attention at the speech therapy lessons.

The most important for her on an everyday basis is routine: she must do the same things at the same hours in order to have a control and know what she must do at any moment.

At school, they teach her to go to the toilette and to eat by herself. She works with the speech therapist, the physiotherapist, and she also works in a team with other children, something she didn’t like at the beginning (she preferred to play alone). They are teaching her to climb stairs and, in a future, to go down them.

Now she is not going to swimming, because she is very tired when she leaves school and going back home takes us an hour and a half.

Melanie loves sleeping. She usually goes to bed at 8:30 p.m. when she has school the next day. In the mornings, she takes long to get up, she cries and gets angry when she arrives at school, and this is not over soon.

At bottom, however, she likes school. Teachers find her better ands better, although she is not a girl very interested in what she is doing, unless she finds something interesting, like somebody speaking to her with the hands.

During the weekends, she likes getting up late, walking, going to the swimming pool in Summer, and being with the family. On vacation, she bores a great deal. She misses her companions and working with her teachers. She knows well all the people she contacts usually: daddy, mammy, uncles, teachers… and she knows at every moment with whom and where she is; she is a very clever and loving girl.

During all these years, Melanie has been learning things little by little but, although slowly, it has been worth all the efforts that all people working with her have made and are still doing.

We are very happy and heartily thankful to all the teachers, speech therapists, physiotherapists and doctors for all they have done to help Melanie improve and, in special, to Doctora Manuela Martinez, for her involvement and dedication, not only to Melanie but also to all those children who need her so much.