Meet Sydney

On a warm spring morning in 2004 a special little girl named Sydney came bounding into our lives. She was about 3 weeks early and only weighed 6 pounds - 6 ounces but appeared healthy in all respects. We were so excited and overjoyed to finally have our first child. All through the pregnancy there were never any indications of anything being wrong and even after she was born it appeared Sydney was a normal healthy baby. But unfortunately things started to change within only a few hours.

A nurse popped in to our hospital room and noticed Sydney's color and alerted a doctor. She had become quite jaundiced within a short period of time and they needed to take her away and put her under the phototherapy lights. Tests confirmed that her bilirubin count was very high. Bilirubin is a bile pigment produced by the liver as it processes waste products (such as dead blood cells) in the bloodstream. High bilirubin levels cause jaundice (a yellowish appearance) and are dangerous to newborns. At birth, the newborn's liver is not fully mature and lacks the ability to process bilirubin as well as normal so it can build up in the body. The UV in the lights (also in sunlight) helps the body break the bilirubin down and pass it out of the body. We knew that jaundice was not uncommon in newborns but in Sydney's case it was occurring along with an aggressive hemolytic reaction. Her body was destroying its own blood cells and tests didn't reveal anything conclusive as to why.

A couple days passed and we were released from the hospital but Sydney had to stay behind. It was kind of a strange feeling for my wife and me. Nine months of pregnancy and many hours of intense labor brought us a new child but we went home with nothing. Needless to say we spent every day for the next few weeks at the hospital by her side. The phototherapy was keeping her bilirubin levels in check but her body was still destroying her red blood cells at a very fast rate. In fact the hemolysis was so rapid the doctors were not able to get a good look at her red blood cells under a microscope. All they could see were the leftover bits of what used to be red blood cells. At this rate, her body was destroying its blood faster than it could replace it and she would run out in a matter of days. By her third week she had already needed her first transfusion.

Eighteen days after she was born, Sydney finally got to come home. What a joyous day that was. Our family finally felt complete and the usual parent/baby stuff we had anticipated all along finally started to take place. But it was always going to be overshadowed by the fact that Sydney was not out of the woods yet. The hemolytic anemia continued and her little body would continue to need more blood on a regular basis. We were just holding on to the hope that she would grow out of it like so many other babies had with similar conditions.

Over the next few months Sydney would require a transfusion every 5-7 weeks. The hemolysis had slowed down to the point where it wasn't really a factor any more. Her body was no longer destroying the blood cells like it was early on, but it was still not replacing them either. The transfused blood was living out its normal life span but very little new blood of her own was coming in to take its place. Her doctors worked diligently to try to get to the bottom of it all. They ordered practically every test imaginable and had her blood (which was actually partly her blood and mostly someone else's) sent to labs around the country. Yet every test came back either negative or within normal ranges. They even did a bone marrow sample and it appeared to be chock full of healthy normal-looking red blood cells. But there was very little trace of them in her bloodstream. It just didn't add up.

The months that followed involved dozens of doctor visits, many more transfusions, countless needle-pokes, surgery to install a broviac tube, a scary trip to the emergency room, another bone marrow sample, several overnight hospital stays, a long trip to Boston and back, and another surgery to convert the broviac tube to a port. The road has been difficult to say the least, but we are so grateful for each day we have with Sydney. We know it could be so much worse, and despite all she's been through she is still an amazingly happy little girl. Wherever she goes she lights up the room and steals people's hearts. To see how she touches other people's lives fills us with pride and joy.

Sydney is now 5 years old. She is blossoming into a beautiful and bright little girl full of life and personality and you wouldn't know by looking at her that there is anything wrong. As her parents, we strive every day to shower her with love and maintain that ignorant bliss that should be childhood. But unfortunately her condition is still the same and every few weeks we have to deal with the reality of the situation. In her short life she has received 77 transfusions and continues to average roughly one per month. When the anemia sets in she feels miserable and its heartbreaking for us to watch and know that this vicious cycle might repeat itself indefinitely.

We are so grateful to all the doctors and nurses who have been there from the beginning working so hard to diagnose Sydney's condition and improve the quality of her life. We know they are doing everything they can to get to the bottom of it. The hardest part of all this as her parents is not even knowing what it is yet, let alone knowing if it can be cured. All we know at this point is that her bone marrow has been sampled twice and both times it showed an abundance of healthy-looking red blood cells. However it seems her body doesn't know it needs them. Somewhere in the process, those blood cells are not making it from the marrow out into her bloodstream to replenish the ones that are used up.

If you have first-hand experience with a rare anemia like Syd's or you're a medical professional who may have some insight into her condition, please don't hesitate to contact us. We would love to hear from anyone who could possibly lead us toward a diganosis or, even better, a cure.

If you would like more detailed medical information, please have a look at Sydney's clinical summary.