“Pauline is the joy of the family. She was the angel who came to bring us even closer together.”
A message from Pauline’s family in Brazil:
Pauline was born on 09/27/2023, with a smooth pregnancy, but in the last 2 months, observing the ultrasounds exams, it was identified that the measurements of the long-bones of the arms and legs were much lower than normal, but the doctor told us to wait until the birth to determine if she had or not dwarfism.
Pauline born weighing 2.645 kg and measuring 45 cm. All initial tests were performed (enlarged Guthrie test, inborn errors, maternity tests, Apgar 9, G-band karyotype). All results came normal.
The first 20 days of her life were normal (weight gain and growth), until the end of the first month of life, then she began to show low weight gain and recurrent vomiting. Even, she did not respond to developmental leaps, absence of the Moro reflex, severe hypotonia, etc. So the pediatrician doctor requested the first cranial tomography, which also gave a normal result.
Trying to solve the problems with vomiting, we went to the gastroenterologist who requested some gastric exams, the results were normal, so the doctor began to suspect that as a metabolic disease and advice us to go to the HOSPITAL PEQUENO PRINCIPE (Little Prince, a children hospital), in Curitiba, to start an investigation.
On January 4th, 2023, Pauline had her first seizure. One day later, we arrived at the hospital. She had abundant brain discharges and was then given PHENOBARBITAL. During these days, she underwent a series of digestive system tests that results came normal, among other tests… until a cranial MRI was performed and an alteration was identified (marked diffuse thinning of the corpus callosum with ectasia of the ventricular system and slight thinning of the periventricular white matter, with accentuation of the cerebral sulci and basal cisterns, as well as bilateral hippocampal inversion). A cheek swab DNA test was performed at the hospital, which also resulted as normal. From then on, Pauline began to have recurrent fevers.
After much struggle with our health insurance, we were able to perform more genetic tests. Organic acids and CGH Array came back normal and we were finally able to perform an Exome scan, which confirmed an alteration in the KIF1A gene, unfortunately at a very severe variant.
Pauline is the joy of the family. She was the angel who came to bring us even closer together. We celebrate with great joy every day that she has been in our lives, but it’s not easy. She doesn’t smile, can’t control their neck muscles and has recurring vomiting.
Pauline is now 10 months old, undergoing physical and occupational therapy using the Cuevas method and is also having speech therapy sessions to help and strengthen the muscles involved in swallowing. .
And that’s it, at times like these we have to have a lot of faith in God, to give us strength because every day is a great struggle.
