On the third weekly recurrence of fever (which went down by itself) it was decided to admit Anita to hospital for observation.
Anita had control of her head movement and began to smile. She was treated in hospital with two antibiotic drugs: Spectrum and Zimox (amoxicilline and ceftazidime, 500 mg per day; her weight was 4.6 kg, or 10.12 lb.), and with Tachipirina (paracetamol). Although tests for infectious diseases were negative, other tests revealed increasing anemia, neutropenia and high transaminase. A mild hypotonia appeared on her legs and she slept much more than usual.
View results of tests conducted in the above period.
When she was about 10 weeks old she was admitted into the University Hospital at Verona (Hematology Department). The neurological examination was negative. The neutropenia worsened and a virus was thought to be the cause.
Anita lost muscular tone, now and then recovering it. Her condition worsened and she finally went into a 36-hour torpor with an EGG reading similar to sleeping conditions. Both cerebral CAT scan and echographs gave negative results. Anita lost her power to move, her sensibility to pain, her smile and her ability to make sounds; there was uninterrupted torpor.
At that time a blue mark appeared on her back in the region of the cocciyx and sacrum. It grew in size to cover the gluteus and spread upwards along the spinal column. Later on, at seven months, darkish marks appeared on the sclera. We had the impression that Anita suffered from pain in her back (and we believe she still suffers from it). After the torpor incident, the search shifted to metabolic diseases, but nothing was found.
For a short period Anita demonstrated a high blood potassium level, and an Aldosterone test indicated very high level of this hormone. The density of electrolytes in the urine was always very low.
View results of tests conducted in the above period.
At three months old new metabolic tests during hospitalization at the Padua University Clinic -- lactic acid, blood ammonia, amminoacids in blood and urine, organic acids, sulfite test, VLFA, blood carnitine, blood ferritin, cerebrospinal fluid (= negative; proteins in the spinal fluid were near the upper limit for an average 3-month-old) -- proved negative again. During urine collection at night, doctors noticed that Anita had strong polinuria attacks (her mother had reported episodes of diuresis blocks, which were easier to detect). Diabete insipidus tests were conducted and the result was negative, though ADH level was below average.
At that time, Anita seemed unable to manage the balance between release and retention of urine. The diuresis blocks were accompanied by swellings under the eyes and chin, and a soft "pad" on the nape, running up along the head. Fever bouts continued at weekly intervals for seven months. The period of high temperature, which would reach a maximum of 38.2°C (101°F), would always be preceded by a night in which Anita would be continuously thirsty, would keep moving her arms, legs and head, and her breathing would be hurried and labored, as if suffering from lack of air.
During this period, her nape was very hot and on it appeared red spots. We now think they may have been related to some kind of inflammation: they returned some time later during the period of body torsion (described below), and now (summer 1996) they have come out again.
At that time (four months old) her condition seemed to improve a bit: She began to move again, but had no control of head movement and was not smiling. Cerebral Magnetic Resonance (NMR A and B) was negative, so she was released. The typical up-and-down cycles of Anita's condition became evident: indeed, after a short time it got worse and worse, and sopors and fevers continued.
Hypotonic crises were always accompanied by anesthesia (not always leading to torpor -- we sometimes would note that Anita could hear sounds), her eyes would turn back or move slowly left and right. She would wake up more energetic than before. Today she still has low sensitivity to pain, while responding well to tickling.
A new period of hospitalization confirmed she had a high level of aldosterone and low mean corpuscolar volume, and inversion of the normal rhythm of cortisol. X-rays of her whole body showed thymic hypertrophy and subluxation of her left hip.
When Anita was seven months old we met an homeopathic doctor who, without a specific diagnosis, tried to balance the "liquid" situation and parathyroid glands (in his opinion these glands were connected to the illness). We checked, at home, pH and urinary concentration, and tried a therapy with Vitamin D and calcium that seemed to improve her energy level, but stopped diuresis.
We used other vitamins and minerals as well. We changed nutrition, eliminating milk and gluten; we used "anti-inflammatory" compresses along the spine -- which proved most successful in bringing down the swelling.
After two months of these experiments we achieved the first fast improvement, made evident by the disappearance of fevers - which had lasted, intermittently, for seven months - sopor and conjunctivitis; the return of her past look, sensibility and smile; and the increased concentration of her urine. However, her control of the head, muscle tone and movement ability did not return in any lasting form.
View results of tests conducted in the above period.
Until February 1993 (age 2) we had the impression Anita suffered from a stationary motor condition and a slow reawakening from a mental point of view. But then, during a bronchial pneumonia with very high temperature, she had for the first time a convulsion which lasted for three hours (epileptic state).
During the hospitalization, at the Hospital of Padua, a cerebral CAT scan was conducted again, finding calcifications at the ganglions of the bases (CAT A and B).
After this virosi her weekly fevers came back for 2 months, and she began to grind her teeth. She had a gastrointestinal hemorrhage and needed a transfusion (she was fed through a nasal tube).
After a second long convulsion -- with no temperature rise -- Anita began to take an anti-convulsive drug: first Tegretol, then Depakine (which only worsened her condition), and finally Luminalette (today 3 tablets and 3/4 every day).
During this last hospitalization, again at the Hospital of Padua, various tests were repeated: alteration in the EEG (then normalized), normal PEV, cerebral NMR (NMR A and B) found cerebral hypotrophy (pons and trunk) and alteration of the white matter.
A new diagnostic hypothesis was put forward: Infantile Familial Encephalopathy with Cerebral Calcifications and Leucodystrophy -- an exceptional form of unknown origin described by Prof. Aicardi -- generally combined with a spinal fluid alteration; though no such alteration was found in Anita's case.
Doctors decided to repeat CAT and NMR scans one year later to verify possible degeneration.
It had been difficult to stop convulsions with Valium, which then seemed to have a paradox effect and to remain in the system for a long time.
View results of tests conducted in the above period.
In April 1994 (age 3) Anita was hospitalized again for two reasons.
Within a few days after this episode her muscle tone became hypertone and Anita assumed a new position: she kept her torso and neck bent to the right, her face towards the right, while her left arm and leg became rigid. At the same time she was very excited, laughing without a reason, and in the evening had a temperature (up to 38°C, 100.4°F). Then she began to cast glances upwards to the right. The left eye turned back further and seemed more swollen than the right one. She showed no signs of unconsciousness. This position later improved, but at times it has reappeared as before; it is triggered by something we have not been able to clearly understand.
Since winter 1994 she has often been suffering from colds, high temperatures and sore throat, which is very unusual and is clearly connected to some recurrent condition, either some infection or allergy.
In the same period her hands and feet began to perspire profusely. This condition has now disappeared, while tachycardia recur now and then.
Body twisting has improved slightly and the "glances" have almost completely disappeared.
View results of tests conducted in the above period.
In April 1995 (4 years and 4 months old) new cerebral NMR (NMR A and B, during which Anita woke up and, therefore, the results are not very clear) and CAT (CAT A and B) scans (two years after alterations had been first found) showed the situation had not changed.
Consequently, the neurologists decided to run new NMR and CAT tests in two years.
Gastro-intestinal problems are now (June 1996) chronic: Anita continues to suffer from intestinal swelling, diarrhea with mucus and an acid smell, her tongue is covered with a thick white coating and her breath is ill-smelling; but, above all, the pain remains. She often wakes up in the middle of the night crying in pain. Touching her, it is clear she has an abdominal spasm. She has had a few episodes of acetone and of a loss of vaginal mucus. Two abdominal echographs were conducted to find out more about a mass in the right iliac fossa (with a negative result).
Anita's weight is below average (12 kg, or 26.4 lb.) for a 5 year old.
There are often fats in the feces and several colonies of Candida. Twice after antibiotic therapy we have seen thrush in her mouth; very often she has mycosis on her face.
Stomach ache: After meals and after drinking Anita needs to go through many belches to digest.
We have noticed that during intestinal aggravation she suffers from loss of energy and a considerable worsening of the clonus of the legs, which makes it impossible to set her feet on the floor.
Only in April 1996 we discovered the presence of intestinal parasites -- Oxyuris Vermicularis and Dipylidium Caninum -- which are not easy to get rid of, as Anita cannot take the prescribed drug. Always present are also colonies of Candida Albians, Escherichia Coli, Streptococcus Foecalis, Staphylococcus Aurens and Klebsiella Pneumoniae.
A few days ago (10 September 1996), a new test showed that Oxyuris and Dypilidium Caninum had disappeared, yet it also confirmed the presence of Giardia Intestinalis.
The urinary situation is improving, when compared to the first months, but difficulties in letting the urinary bladder fill up or relax and urinate persist. It seems that this also is conditioned by spasms.
View results of tests conducted in the above period.
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