Dear friends,

We wish this letter did not reach so many people, remained among memories, and did not become a desperate cry for help. We are two young parents Florentina (Assistant Professor, Ph.D at The Technical University "Gheorghe Asachi" Iasi) and Florin Sirbu (University Lecturer, Ph. D. at The University “Al. I Cuza" Iasi) and we have two wonderful children: Traian, a 4 year old boy and Daria, an 11 months old little girl. We love our kids more than anything in this world. The day of June 10^th, 2008 marked our lives dramatically. We are currently going through terrible moments of despair, fear, hope, prayer, lack of sleep, permanent anxiety… the nightmare of our lives. The reason:

at a routine dermatological check-up (our little girl had 2 orange stripes above her right heel) we were told to take our daughter for a lipid profile test as those stripes could be cholesterol deposits called xanthomas. We took the test and once the results were back our nightmare started. Our baby girl had a cholesterol of 950 mg/dl while for babies her age the normal cholesterol level should be anywhere between 50 and 100. That very night, we contacted and spoke with many doctors on the phone. Everyone told us the same thing (such cholesterol levels were totally unusual; there must be an error somewhere in the test results). The following day I (the mother) was admitted at Saint Mary Hospital with my baby girl, where they repeated the test and have made numerous other investigations. The result was almost the same. Daria’s cholesterol level was 1036 mg/dl.

We urgently left for Bucharest where we were admitted at IOMC at Mrs. Professor Dr. Ciofu. She hadn’t seen anything like this either. She diagnosed Daria with homozygous familial hypercholesterolemia. A genetic disease extremely rare affecting 1 to 1 million people, typically when both parents are ill. But we are both healthy (our cholesterol levels are 160 and 180) and no one in our family has or had high cholesterol. This is why we find this disease awkward and rare, a disease we are currently trying hard to fight against and about which we read day and night various treaties, articles, etc. on the Internet.

We then went and were admitted to the ‘Fundeni’ hospital at Dr. A. Constantinescu. The result of the tests was the same – a cholesterol level higher than 1,000. Same diagnosis. That single case at one million, which all medical sources talk about, was ours.

Therapeutic solution: liver transplant

Brief description of the disease: cholesterol reaches our body in two ways: through what we eat (25%) and produced by the liver (75%). This cholesterol must be metabolized by LDL receptors. Daria does not have these LDL receptors or if she does, they are not functioning… Therefore all cholesterol (fat) remains in her body, in her blood, and deposits itself on the internal organs, on the walls of her blood vessels, ultimately causing sudden death through cardiac arrest.

All medicines that are given to reduce the cholesterol (statins) can only reduce it by a maximum of 25% and cannot be given to babies, they can only be prescribed to patients who are more than 10 years old.

There is also a blood cleaning procedure (a sort of dialysis in which blood is removed from the body and cleaned from fats). This procedure should be done once a week, but again is inappropriate for babies as they should stay perfectly still for 6 hours. The machine used for this procedure does not exist in our country. The cost in Italy is 1000 Euros weekly.

The only solution is liver transplant. Fortunately, I (the mother) have the same blood group with Daria and I hope to be the donor ...

We were lucky to have discovered the disease in time as Daria’s internal organs are not yet affected. But, we are on the national waiting list for liver transplant at number 134.

While, at the Romanian hospitals, I had to wait for several hours with Daria in my arms for her test results, I can only wonder how long we would have to wait for a liver transplant … and she has NO time. When she turned 4 – 5 years old, she would have to have two major surgeries: a heart transplant and a liver transplant. While I am hopeful I could be the donor for a liver transplant, who would give her a compatible heart?

In Romania liver transplant mortality is 14% higher than anywhere in Europe (according to studies conducted on the basis of statistics European Registry of Liver Transplantation, www.eltr.org). The chances for a baby to lead a normal life after liver transplant are 90%.

We were recommended by Romanian and foreign doctors a clinic in Belgium, Saint Luc. We are already corresponding with them. The cost for a liver transplant is 85 000 Euros. It is the cheapest in Europe. We have an appointment for an examination at the beginning of August and we hope that Daria can have surgery in the following months.

That is why we want to share with you what we are going through. Because we hope that you understand our situation and are able to help. We want to make our case known because this is the only way all those who could help can actually do it. Any kind of help (donations, prayer for Daria’s health, information, recommendations you can submit on our behalf to companies who could sponsor us being exempted from paying profit tax by up to 20%) that you can offer will increase Daria’s chance to live.

Thank you for helping us, even only by reading these lines.