Thursday, January 27, 2011

Experimental Cure? Really?

I received a phone call today from CHLA (Timothy's current hospital) BMT department. Timothy's bone marrow search has been denied... The reason: it's an experimental cure. As I have mentioned on the previous post, most of the information online are outdated by at least 15 years. And back then, BMT was experimental, but it did work even back then... Even now, there's been only 40 or so cases around the world who have had bone marrow transplant with a non-related donor. CGD is indeed a very rare disease and there aren't much data out there. And again I wonder, why Timothy? Only God knows...

My first reaction after hearing the news was anger. Why didn't they let us know right away? (It was denied a month ago.) And what's the real reason for the denial? Is it really because the insurance company thinks it's experimental and is worried it will jeopardize my son's health and well-being? Or is it all about money? After my initial bout of frustration, I was disheartened and lost. Now what? There was so much comfort in knowing there was a plan of action. We were going to find Timothy his match and he would be cured. No worries and no meds. Today was a hard day. I felt at a loss. I was sad for my son.

CHLA is going to appeal the denial and so are we... but it's going to be a long process. I feel tired already. It seems as if God has different plans for Timothy and us. Pray with us.

Monday, January 24, 2011

CGD and Timothy's Prognosis

This entry may be a bit dry. I am going to attempt to explain my son's disease... It took me several months to research and get into the details of his disease. After his diagnosis, I couldn't or didn't want to really know about the disease. Ignorance is bliss, right? I figured the less I know, the better. But with time, I had to know. What if by my ignorance I cause harm to Timothy? That was the fear. As I delved into the details, I found myself getting more and more engrossed and obsessed trying to know everything about everything related to CGD. Then depression would hit with knowledge coupled with fear and anxiety. I would peel away from the computer because it was too much. And for months I wouldn't go back. This cycle would repeat many times.

Alternative name for CGD, among many, is Fatal Granulomatosis of Childhood. About 25 years ago, children with CGD didn't live beyond their 10th birthday. Since then, the prognosis have improved dramatically. Most of the websites I've visited are outdated by at least 15 years (according to our immunologist). Due to the rarity of the disease, research is sparse and information hard to gather. Only 20 patients get diagnosed with CGD every year. 1 in 200,000. Some sites will state 1 in 1,000,000 have CGD. Of course, my son had to be one of them. Many think Timothy has a weakened immune system. To clarify, his immune system is not weak, but a part of his immune system is defective. Our immune system is very intricate knowing how to fight various types of germs: bacteria, virus and fungus. CGD patients can fight any viral infection like a healthy person. Viral infections will go through its course. What CGD patients lack is it's ability to fight certain types of bacteria and fungus which require hydrogen peroxide to fight. White blood cells do the fighting when foreign agents enter our body. Phagocytes or neutrophils, a type of white blood cells, typically engulf the foreign agent (bacteria or fungus) and shower them with hydrogen peroxide to kill them. Timothy does not produce hydrogen peroxide. Not all bacteria and fungus require hydrogen peroxide, so for those germs, Timothy's neutrophils will do its job to eliminate them. So after learning about this, I was on a mission to find out all the bacteria and fungus harmful to my son. But that was an impossibility. Most common ones are staph (bacteria) and aspergillus (fungus). The difficulty is both staph and aspergillus are ALL around us and are not harmful to healthy people. Most people carry staph germs around them. Timothy has to be on antibiotics daily to prevent infections.

Here's picture of a neutrophil fighting bacteria. Respiratory burst is the act of producing hydrogen peroxide.

So what's the prognosis? The doctors don't give me a definite answer. Some say with meds and luck, a long healthy life. Some 30's or 40's. Or if Timothy's an unlucky one, then anytime he contracts a life-threatening infection. I have read somewhere that on average CGD patients contract a life-threatening infection every 4 years. With recent advances, there is a cure for CGD, bone marrow transplant (BMT). We are currently in the process of finding a match. Timothy's best chance was with Claire, a biological sibling. Unfortunately, she's not a match. We are looking for a non-related bone marrow match or cord blood match. Only God knows Timothy's future. We are just trying our best with what we know to provide what's best for our son's health. If you aren't already, we humbly ask you to consider joining the National Marrow Donor Program and register. If not for Timothy, for many many others who depend on BMT for survival. Thanks for reading.

Monday, January 17, 2011

The Diagnosis

It was a chilly and calm evening. After we woke our baby, we decided I would take Timothy to the ER. The short drive was filled with confusion and unknown anticipation. I was calm because I didn't know what this trip would entail. There was hardly anyone there so we saw the on-call pediatrician right away. After a routine blood test, urine collection, and x-ray, we waited and waited for a while. Timothy would fall asleep in my arms peacefully throughout our wait. I loved those hours where I HAD to hold my baby and just enjoy his serene slumber. Poor kid was only 2 months old and had multiple procedures done already. When we finally talked to the doctors again, I was informed that Timothy had pneumonia. There were some lung lesions and elevated white blood cell (WBC) count. Because of his age, we were admitted for a night to monitor his condition. It was 1 am at this time. When we were transported to the pediatric unit, the protocol is to strip the patient down to get the most accurate weight, height and other routine stats. Timothy did NOT like being awoken and naked at 2 am in the morning. They had to insert an IV for the antibiotics. I didn't understand this. Why couldn't they give him an oral one? For the first time, I saw fear on his face and heard terror in his cry. It broke my heart. I really wanted to lash out at the nursing staff for doing this when all the stats were collected while we were in the ER only a few hours earlier. But I knew they were doing this to take care of my son the best way they new how. When all was done, we were left to sleep... finally. But I didn't have the heart to put Timothy in the hospital crib. It seemed so foreign and unfamiliar. So I held him. It was suppose to be only one night.

The next morning, the attending pediatrician stopped by. She updated me on his progress and checked Timothy. Apparently, the ER doctors didn't mention the enlarged lymph nodes to her. And she was very concerned about them. Newborns should not have enlarged lymph nodes like that, she said. She wanted us to stay another night for an ultrasound of the lymph nodes. I sighed. My husband was shocked. I hadn't seen my daughter that morning and I missed her. My husband and I switched off for a few hours so I can gather some stuff. That evening, Timothy's fever spiked even though he was on antibiotics. So the doctor wanted us to spend another night to monitor him with additional antibiotics. With the ultrasound result being inconclusive, and his white blood cell count extremely elevated (antibiotics not working), coupled with his 2 large lymph nodes, the attending pediatrician consulted with the Infectious Disease (ID) doctor. He asked me a slew of questions. In conclusion, he had nothing. But he was obligated to mention that with Timothy's symptoms, it could be leukemia, though he said it was unlikely. My heart sank. Everything seemed to spin around. A few hours later, the attending pediatrician decided it would be best if we were transferred to CHOC (Children's Hospital of Orange County). That's when I started to weep. I was so strong until then. I could not control my tears.

It was the same protocol there. We arrived pretty late in the evening, but Timothy had to be stripped and they had to collect all the routine stats. A resident, several interns, a nurse and nurse assistant all came by with lots of information. As soon as the resident saw Timothy's records, he said he has been misdiagnosed. He does not have pneumonia. What?!?! was going on. And to make it even more disheartening, they couldn't properly diagnose him because he has already been on antibiotics. It would have been easier if they saw him when he had a fever. What was I to do? I felt helpless.

From that evening, Timothy was at CHOC for over a week. He had several x-rays, another ultrasound, CT scan, almost daily blood draws, and finally a biopsy. He saw several ID doctors, hematologists, pulmonologists, and finally oncologists. This was in addition to the attending doctor and his residents and interns. Nurses changed every 12 hours. Needless to say, we met a LOT of medical personnel. Even when we were discharged, the doctors did not know what was wrong with Timothy. Every doctor who came in to examine Timothy always had a surprised look. His charts betrayed his appearance. On the outside, he "looked" and still "looks" very very healthy. Above average in weight and height, he looked as if he was thriving. The doctors did not understand. So for over a week, every day, I would get an update with no new information. The only thing the biopsy revealed was that the enlarged lymph nodes had no pus and was positive for staph infection (MSSA, not MRSA). His lumps were granulomas.

4 days later Timothy was discharged, we were told he has CGD, Chronic Granulomatous Disease. It's a rare genetic primary immunodeficiency disorder. When we heard this, we were relieved, finally there was a diagnosis and it wasn't cancer. It would take months for us to really understand what this all means for our family, especially Timothy.

@ St. Jude Medical Center

@ CHOC towards end of our stay

Thursday, January 13, 2011

The Beginning

A little over a year ago, my son was born. He was perfect and beautiful. Within minutes of his birth, I knew our family was complete. My daughter who was almost 2 at the time was eager to meet her new brother. My husband immediately fell in love with him. Timothy Linus Song was born. The first few months of his life, we were just trying to survive the sleepless nights and fatigue. My daughter, Claire, was going through some insecurity issues and wasn't napping well. We did notice that Timothy spat up a lot more than Claire when she was a baby and had constant congestion in his nasal passage. We had the humidifier going all the time, did the hot shower/steam thing, saline solution with the nasal aspirator, tried everything. But it was always always stuffed up and he would often have hard time feeding. We just thought this was all a "boy" thing, since we only had a daughter-experience. Well, a few days after his 2 month well-baby check-up, I noticed two very enlarged lymph nodes on both sides of his neck. I immediately called the doctor, but the nurse thought that it probably wasn't anything significant. Well, moms have this gut instincts where you know something just isn't right. So a few days later, I called again. This time a nurse helpline since it was pretty late in the evening. We were instructed to take his temperature. And he had a fever. Because of Timothy's relatively mild temperament, he wasn't showing us any signs of discomfort or sickness. We headed to the ER. I thought we would be there a few hours with some diagnosis of an infection and a prescription for some meds and voila! it would be done. It was so much more... I could never have imagined what our lives would be like the next 2 weeks.

Timothy 2 weeks old.

Timothy 2 months old.