Help: My son has Alpha-1 – a personal account by Gabi Niethammer
Author
Alpha1 Germany eV.
Almost two years after the birth of our daughter, our son was born in 2003 and we had the wonderful feeling of now being a complete family.
Our little baby had been dealing with jaundice for a long time, which we parents didn't think was anything out of the ordinary. However, four weeks after his birth, he suddenly developed nosebleeds for no apparent reason, and we went to the hospital for an examination. His blood clotting factor was a dramatic 6 %, which alarmed the doctors, given the possibility that the little one could have fallen and bled to death internally.
What followed was a nerve-wracking week in the hospital, during which various illnesses were gradually ruled out. After a few days, we received the completely unfamiliar diagnosis of homozygous alpha-1 antitrypsin deficiency. We dredged up old Mendelian laws from our general knowledge and otherwise asked doctors and nurses for information. But as is often the case, the more we asked, the more frightening the answers we received.
At the end of our son's fifth week of life, it was determined that he would need a liver transplant as soon as possible – what a shock! Only the final examination of the bile ducts revealed that it wasn't such a dramatic situation, and the pending transplant turned into: Take the child home for now and bring him back in three months.
At home, against the advice of many, we started surfing the internet and found shocking statistics on disease prognoses and life expectancy. Over the next few years, our son suffered numerous infections, including some serious ones and pneumonia. Later, he also had several ear infections. For us as parents, this was depressing, and we blamed ourselves terribly for not having done enough for his well-being. All our instincts had deserted us, replaced by profound uncertainty.
In this state, about a year after the diagnosis, we came across the Alpha1 Germany association through a small newspaper announcement. We became members and took advantage of their support services and information. With each passing month, we became more confident in dealing with the condition, got to know other affected children and their parents, dedicated doctors, and an association that was truly making a difference. In 2005, I began working on the board as secretary so that I could be as actively involved as possible in our son's life and not feel so helpless in the face of this genetic defect.
We had our family tested. As expected, we parents were carriers, but thankfully not affected ourselves. That would have been the last straw, since my husband had been smoking for many years and the effects might have been devastating. He promptly took this as an opportunity to throw away his beloved hand-rolled cigarettes for good. Our daughter is also a carrier – it seems we can't escape the troublesome "Z" allele.
Today, 15 years later, I am still working intensively in the association and trying to do everything possible to ensure that affected families receive help and security as quickly as possible and are not left alone with their fears, as we were for so long.
Our son is doing very well, his liver values have normalized and in fact, when there are colds in the family, he is the one who gets the least of them.
