About Giovanni

Giovanni Michael Guglielmo

Giovanni was born July 24, 2006 an apparently healthy baby to Christina M. Poulicakos and Michael A. Guglielmo. After six-weeks home Giovanni had an elevated fever and was taken to his doctor. He was sent home under the belief he simply had a cold. After several days his temp persisted, he wasn't eating and he was very irritable so Christina took him back to the doctor and requested a blood and urine culture.

He was subsequently admitted to Concord Hospital, NH, and given what was described as a shotgun blast of different antibiotics. We were later told Giovanni was infected with a bateria know as Klebsiella. After a week at Concord Hospital he was transferred to Massachusetts General Hospital (MGH) because his blood cultures continued to come back positive regardless of all the antibiotics he received. Subsequent blood cultures returned different strains of klesiella and after several different mixtures of antibiotics Giovanni broke out in a terrible rash. The antibiotic mixtures were changed and the bacteria was eventually killed. While at the hospital Giovanni had numerous blood tests, a blood transfusion, and a pic line was surgically inserted. He was then returned to Concord Hospital to finish his 14-day course of antibiotics.

Giovanni was released and we ostensibly resumed our lives with our beautiful newborn. However, in order to treat his skin condition, which became leathery and scally, we had to rub him down with different lotions . One day we discoverd a lump on his right shoulder, which turned out to be a staph infection. A staph infection derived from his own skin that was broken-down from his skin condition. He recieved seven days of oral antibiotics. While home he also had chronic diahrea, which we believed was simply the breast milk going through him. Giovanni was spitting up most of what we fed him or expelling the remaining milk in loose bowel movements.

After several weekly checkups Giovanni was deemed failure to thrive and we returned to MGH for a routine followup with infectious disease and hemotology. When the doctors saw Giovanni's skin condition we receved an emergency appointment with dermatology and he was diagnosed with severe eczema. An appointment was also made with a gastro intestinal doctor whom found blood in his stool, and concluded he had an allergic condition to milk and soy products and prescribed Neocate.

The Neocate seemed to work for several days but he spiked another fever and we returned to Concord Hospital where we pleaded to remain because of the 100 mile distance to Massachusetts General (MA) from our Belmont home. But Giovanni's doctors insisted on the transfer in his best medical interests because of the more advanced medical technology and care in Massachusetts. So on November 3 we reentered the hospital system again.

While at MG more blood test, more IVs, more prodding and no answers. We decided to transfer Giovanni to Dartmouth Hitchcock to get closer to our NH home. Once at Dartmouth Hitchcock numerous test were taken to try and determine what was wrong with Giovanni. He still had chronic dierrhea, a terrible skin condition, and the elevated white blood cell counts as high as 90,000. Eventually, the doctors began to look into immune disorders, we continued the struggle to put weight on Giovanni and he kept vomiting and expelling everything.

One night he was an hour from intensive care because of weight loss, but bounced back. We were later informed by the team of doctors working on Giovanni that they wanted to meet with Chrisitina and me. We met in a room and were informed that they felt Giovanni had an immune disorder know as Omens Syndrom a type of boy in the bubble syndrom. Giovanni was infecting himself because his immune system was defective. They furhter told us survival was 60 to 80 percent, or possibly 50 percent depending on the severity of the compromized system. The meeting was an awakening, like the kind you feel when someone hits you in the head with a pipe and your head explodes in a flash of light.

They ended the meeting stating that Giovanni should be immediately transferred to Boston Children's Hospital where the worlds leading experts on immune disorders practice. On November 26 Giovanni was moved, and our daily treck to Massachusetts began once again.

Giovanni has NEMO, which is a very rare x-linked chromosomal disorder. Giovanni's NEMO is described as severe requiring a bone marrow transplant. Only 60 children in the world have confirmed NEMO and 11, now 12 in the US are confirmed to have NEMO. The disease was just discovered in 2007. NEMO or the NF kappa essential modulator is a mutation on the EXON number 10 gene, which controls a number of bodily function including the hair, skin, eyes, teeth, bone growth process, intestines, and the immune system. Any of these bodily organs can be compromized from mild to severe. And the defects can either progress from mild to sever, stay mild or be severe.

So far Giovann's hair is fine, his skin condition is compromised, his eyes are fine for now, and his teeth are still waiting to come in. The effect NEMO has on teeth is that the teeth may be conical, that is they come in live fangs or rounded at the tip. The treatment for that is removal. With respect to Giovanni bone process the growth and breakdown of bone cells is compromised and in this instance if it becomes sever the holes in the skull that the retinas go through to the eyes close and detach the retinas causing blindness.

Giovanni's immune system is completely compromized in that his white or t-cells, red cells, and NK or natural killer cells don't work. That is they are not functioning. The white cells are not telling the b-cells to make antigens against germs and the b cells are not telling the NK cells to attack and kill germs. Thus the immune system is comletely compromised and that is why he experienced repeated infections, many of which originated in the intestines. Giovanni's intestines are also defective in that the villie that should stand up allowing white cells to imbed to kill bacteria and absorb food are flattened and the defective white cells were simply falling off.

Children with NEMO have a 50/50 chance of survival with a perfect bone marrow match. The doctors have further told us that even with the bone marrow transplant Giovanni may be completely cured or while the immune system is cured he could continue to suffer from other conditions of NEMO requiring longterm medications.

With respect to Giovanni's immune system the only way to cure it or replace it is through a bone marrow transplant. We were unable to locate bone marrow because there are not enough people in the international registry. We were, however, able to find cord blood.

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