A short while ago we received a request from a pediatrician in Romania. He asked us for help to diagnose a patient of his that suffers from severe congenital neutropenia (SCN), a rare immunological diseases that our laboratory is specialized in. Children suffering from this condition have a defect in their bone marrow that renders it incapable of developing a certain type of white blood cell called “neutrophil granulocyte”. These cells are one of the main defenders against bacteria so that children without them are helpless against most infections.
As usual we fist conducted a genetic analysis of the patient, her siblings and parents. In this way we can identify most causes of SCN – but not for Lacramiora. In her case we could not find out the gene responsible for her disease.
Our laboratory decided to investigate her case further. In February 2016 I went to Romania to get a direct impression of the patient and her family. Together with her pediatrician we examined every child, took a detailed medical history, constructed a pedigree of the families ancestors and collected blood samples from each family member. With me I brought a medication called G-CSF for Lacramiora. This drug is currently the best possible treatment for children with her condition. It is a growth hormone that the human body uses to increase the production of white blood cells. In children with SCN it can increase the amount of neutrophils to near normal levels and these cells are then able to defend them against bacteria.
With our own laboratory funds we were able to buy Lacramiora G-CSF for a few weeks but for her long-term treatment we need you help! She will need at least 2 doses per week that will cost 10€ each.
Lacramiora suffers from many consequences of her chronic infections. Non healing ear infections made her nearly deaf and her lung is severely damaged. Her brother Abel is does not have SCN but suffers from different malformations that we suspect to have the same genetic bases as the disease of his sister. We are studying the genome of the children intensively in order to find out the exact reasons and how to help her best – in the meantime though she urgently needs G-CSF injections and with this we ask you to donate for her treatment.
Thanks for your support!
Dr. Sebastian Hesse