Gustas Luksys

2013-04-08

Mother’s letter.

“My name is Vilma Lukšienė. I have three children, but two of them suffer from a rare genetic disease which is called hyperoxaluria. At the moment our baby of the family, Gustas, is in need. My son has been diagnosed with this serious disease being only 4 months of age. Then hyperoxaluria has led to kidney failure but, fortunately, the doctors have been able to resuscitate my son. Since then, Gustas has been receiving peritoneal dialysis. We spent three hard weeks in reanimation department of the Vilnius University Santariskiu Clinics where we also spent our very first Christmas. Hopes were still high that my son’s kidneys would start functioning again. However, the hopes were gone at the moment we were informed that Gustas has a serious and rare genetic disease… Almost the whole first year went by in hospital surroundings: ward, reanimation department, ward again, daily dialysis procedures and new diagnoses… Oxalates have deposited in the eyes, bones, kidneys and other organs. As a result, my little son Gustas’s vision is gradually declining, in addition to this, he has pain in his legs, and bones which often fracture without any reason.

Little Gustas, who is struggling with this relentless disease, is five years old at the present time. His health is failing rapidly… He must undergo dialysis on a regular basis. Dialysis is done by me every single day, and it takes twelve hours. The only way to cure is liver and kidney transplantation. However, the basic problem remains that liver transplantation for children is still something of a novelty in Lithuanian medicine. Moreover, very expensive laboratory tests for Gustas and his sister must be carried out as well as blood and urine oxalate concentrations must be measured. Until now, no such tests have been performed in Lithuania so far. We have applied to foreign hospitals and we are still in touch with them by email.

My daughter has been diagnosed with the same disease but her health condition is stable at the present moment. Unfortunately, she will have to undergo a liver transplantation in the future.

We are most in need of financial aid in order to pay for expensive tests which are not yet performed in Lithuania…”

Gustas is the first child in Lithuania with the diagnosis of a rare genetic disease – infantile form of oxalosis type 1. The cause of the disease is a gene mutation. Children who have been reported to suffer from such form of the disease has short life expectancy – they usually die within the first year of life.

“Who could have foreseen things would turn out this way – two carriers of gene mutations, me and my husband, have met each other”, says Vilma Lukšienė. Hyperoxaluria is a rare hereditary disease, and only 1 out of 120 000 infants across Europe are diagnosed with such disease. It only develops if both parents are the carriers of gene mutations. Liver of patients suffering from Hyperoxaluria does not produce the enzyme which is vital for breaking down oxalates. Very large amounts of oxalates combine with calcium causing formations of insoluble calcium-oxalate crystals which build up in different organs. Deposits of oxalate salts lead to a complete disorder of organ functioning. Advancing disease causes complete kidney failure. The largest amounts of insoluble oxalates are deposited in bones, thus oxalate osteopathy is developing and the patient with such disorder experiences bone pain, treatment-resistant anemia and spontaneous bone fractures. Over time, other organs become damaged as well: heart, nervous system, joints, skin, soft tissues, retina and other internal organs. Serious complications can develop. Gustas has one of the most formidable and inherent kidney diseases. No specific medications exist to treat it. Gustas is receiving treatment which aims at improving the quality of his life. Huge amounts of medications help to slow progression of the disease and to reduce oxalate production, but the only hope still remains liver and kidney transplantation. This is very complicated and expensive, too. It would be possible to perform liver transplantation for Gustas at Lyon Clinic in France; however, the operation would cost almost 180 000 euros, not to mention tests, postoperative treatment, hemodialysis, living expenses, etc… Another option exists – liver transplantation in Poland where doctors are experienced in treating children with such disease. On the one hand, this would not cost that much, but on the other hand, kidney donors are hard to find. With the help of doctors, parents are constantly in search of other possibilities in foreign countries. But the most important thing is that the child needs help immediately…

It is extremely painful for parents to be helpless when it comes to reducing their children’s suffering. What is more, money does not grow on trees or rain from heaven. Financial situation for the family is tough. The mother spends her days taking care of her little son, so the woman has no possibility to get a job, while the father is temporarily unemployed. In case the opportunity of transplantation occurs, they will not be able to make it due to the lack of money.

Sadly, Gustas is not familiar with a “normal” childhood and he does not know what it is like to go to kindergarten, to frolic with other children or have a bath either. But the boy enjoys listening to the books being read to him, Gustas has a good memory, he is learning to count, he loves listening to music and he is attending a music school.

As the child is growing up, he often asks why he cannot do the things the other children can, when he will go to kindergarten, when a “tale” necessary for peritoneal dialysis will be extracted from his belly… Or how long he has left to live… “This is particularly difficult to answer such questions”, – V. Lukšienė says. – “We are trying to make the most of each day”.

Let’s help little Gustas and donate him some money for his future operations, medical treatment and costly laboratory tests. We are calling all of you to unite with us and collect at least 5000 Lt – amount of money for the child’s medicines, regular laboratory testing and medical treatment, which the little boy is needing constantly, while waiting for complicated operations.