History

MEDICAL ASPECT

Amelka was born on November 25th, 2003 at the Mother and Child Institute in Warsaw with a complex of congenital anomalies. The baby weighed 2060 gm with body length of 49 centimetres. She was born at 37 weeks of gestation. After birth, the doctors observed several signs of dysmorphy:

• symmetric hypotrophy
• abnormal shape of the cranium with flattened frontal bone and very low hairline
• shallow-set eyeballs
• asymmetric palpebral fissure, asymmetric eyeball size
• low-set and deformed auricles
• gothic palate
• bone defects along sagittal suture
• craniofacial asymmetry

Amelka was born with a multitude of problems:

1. UROLOGICAL PROBLEM
- Duplication of the pyelocalyceal system and ureters of the left kidney, hydronephrosis of the left system. On 24 December 2003 in the Center of Child's Health (Instytut Pomnik Centrum Zdrowia Dziecka (CZD)) an urinary fistula was created between the left ureter and the skin surface. From the day of the second operation Amelka has often been a patient of the hospitals because of the recurring urinary infections. On 17 March 2005 also in CZD her left kidney and the duplicated urinary tract were removed.

2. GENETIC PROBLEM
- ON 15 JUNE 2009 THE CYTOGENETIC TEST WAS COMPLETED AND THE FINAL RESULT OF AMELKA'S DIAGNOSIS WAS OBTAINED. WE ARE 100% SURE THAT AMELKA HAS MOISAIC TRISOMY 9. THIS MEANS THAT SHE HAS AN ABNORMAL KARYOTYPE. THIS IS AN EXTREMELY RARE GENETIC DISORDER, DOES NOT HAVE AN EPONYM AND GLOBALLY THERE HAVE BEEN ABOUT 30 PEOPLE DIAGNOSED WITH THIS DISORDER SO FAR.

3. CARDIAC PROBLEM
- PFO and PDA have been diagnosed; during hospitalisation a change in the character of cardiac murmur was observed until complete regression. As of today, abnormal confluence of the left superior pulmonary vein has been diagnosed.

4. NEUROSURGICAL AND ORTHOPAEDIC PROBLEM

• Severe malformation of the cranocervical junction. This malformation consists of completely abnormal structure of the first two vertebrae. Specialists told us that this kind of spinal malformation is very rare and very difficult to correct surgically. Increased pressure on the cervical part of the spinal cord was also diagnosed.
• Closed coronal suture. Due to the advanced craniosynostosis a complicated two-stage surgery was necessary. First stage was performed on 28 March 2006 in CZD and was successful. Second stage was performed on 24 April 2006 also in CZD.
• Spine bifida between the first and the second vertebra.
• Increasing scoliosis _ considerable dextroscoliosis of the thoracic and lumbar part of the spine with rotation of the corpus vertebrae.

5. ENDOCRINOLOGICAL PROBLEM
- After birth, slightly intensified hypothyroidism was diagnosed. As of today, the problem with hypothyroidism does not exist any more.

6. GASTROLOGIC PROBLEM
- Amelka has been suffering from persistent constipation and abdominal distensions since she was three months of age. She has had to have flatus removed several times daily ever since. Despite numerous examinations, the origin of the problem remains unknown. What is known though is that the large intestine is considerably longer than it should be and it is abnormally contorted.

7. NEUROLOGIC PROBLEM
- Ever since she was born, Amelka has manifested abnormal muscular tension; she is very flaccid. Amelka often has seizures which resemble epileptic ones; however, doctors are not fully convinced of the reason of their occurrence. Suspicions fall on a defect in the junction, in the sense of pressure on the spinal cord or on abnormal cerebral waves.

8. OPHTHALMIC PROBLEM
- A defect of the 2nd optic nerve disc in the right eye has been identified, as well as a cataract.

Amelka is also under care of following specialists: phoniatrist and orthopaedist.