Angelina's Story

Angelina Rose Maio was born seemingly normal on December 13, 2005 at Brandywine Hospital. On December 23rd at a doctor visit at Children�s Hospital of Philadelphia (CHOP) she stopped breathing and was whisked away. First they told us she was breathing on her own and I thought, well, why wouldn�t she be? I was still unable to fathom that something was really wrong.

They moved her to the NICU, put her on a ventilator, and ran so many tests. They did a spinal tap on her, placed a pic line in her belly button so the doctors could take as much blood as they needed to run more tests than you could possibly imagine. They tested her kidneys, liver, heart, lungs, eyes, ears, and probably a few other organs too. They found that her right lung was a little underdeveloped and said the respirator would help it develop and that she would be fine. We were scared, but happy they could fix her and she would be fine. We never thought that something could be really wrong with her.

As her lungs developed, some of the test results came in and they showed that she had very high levels of lactic acid in her blood. That is a sign of a break in the Kreb cycle, a metabolic disease. I was trying desperately to recall my high school biology to understand what exactly was wrong with my now 2-week-old daughter. All they knew was that she had high lactic acid and there was not anything that could be done to lower it. I later learned that high lactic acid causes muscle weakness � hence her breathing problems. We had our meeting with all her doctors, social workers and nurses to discuss a plan. It was then that the other awful shoe fell � that there was nothing they could do, that she would not develop normally and probably live only a few more days once they took her off the ventilator. This was the first time they asked us to sign a DNR. They told us we could either have a room there at the hospital or we could take her home to die after they took her off the ventilator. I cried so much the doctors would not even talk to me anymore. I could not believe the beautiful baby girl I just gave birth to was going to die, at CHOP and soon. Babies are not supposed to die.

But she surprised everyone and breathed on her own and was doing well in the hospital. After a few days on oxygen, she was strong enough to breathe totally on her own. The doctors decided to start bottle feeding her; up to now she was fed exclusively through a tube that went though her nose into her stomach. It was going pretty well, but the doctors were concerned that she would aspirate (accidentally draw material from her stomach into her lungs) so she was fed twice a day by bottle � we were very happy; she was again doing things the doctors said she would never do. But our joy would soon be dashed by the reality of the situation: the underlying disease was still there and the doctors were unable to treat it.

Even though she was breathing and eating on her own, the doctors still gave her a very bleak prognosis - about 6 months - and they still did not know what was wrong with her. Our emotions were very mixed - we wanted to hold out hope for her survival because she was progressing so well, but the doctors kept reminding us that there was very little hope.

After about 4 weeks, after a muscle biopsy, a skin biopsy, and another spinal tap, Angelina was moved to a step-down unit in preparation for us to take her home. But once again she had a turn for the worse. Her kidneys failed. We felt we had just turned a corner and now there was another serious problem to worry about. Instead of going home, Angelina was moved to the Renal Ward, where we met Dr. Kaplan, who would treat her to the end. It took another month to balance her electrolytes with supplements to her formula. While doctors were balancing her kidneys, their outlook grew bleaker yet. We were exhausted from the roller coaster ride of the last 3 months and very anxious about what horrible thing would develop next. We kept hoping that her condition would improve, but instead it declined.

On March 9, 2006, Angelina came home from CHOP with oxygen, a feeding tube, feeding pump, an apnea monitor, and an array of minerals to be added to her formula every three hours. To say we were terrified to take her home is an understatement, but we thought it would be nice to have our whole family under one roof, for however long it would be. We were met at home by a visiting nursing who showed us how to use the equipment and then left. She came back every day for the first 2 weeks with Hospice. Angelina was holding her own; we also took her to CHOP every two weeks for blood tests to check her kidney and lung function.

When she was 4 months old (one month home), we started taking Angelina to see Dr. Jeanne, a pediatric chiropractor who helped her tremendously. Soon after visiting Dr Jeanne, her breathing improved and she no longer needed the oxygen. We then started physical therapy and speech therapy (to help her with her swallowing) through Easter Seals.

In May, when she was 5 months old, everyone was totally amazed; she was doing everything the doctors said she would never do - breathing on her own, eating by mouth, and holding her head. We were convinced that she was going to be fine. At some point during this time, some test results came back and a diagnosis of Complex C Oxidase Deficiency (COX Deficiency) was reached. This disease is fatal, but there was a very small chance, even minute chance the doctors warned of recovery. Even the doctors started to be optimistic at this point - talking about a possible kidney transplant when she was a teenager. The thought of her living to become a teenager, was the most incredible feeling I had since this whole nightmare started. This continued through July, she was discharged from Hospice; we even visited Disney World.

But the bottom fell out of our world on July 30, 2006 when Angelina stopped urinating and was admitted back to CHOP. The doctors said she was failing quickly and did not expect her to live out the week. Her heart rate was down to 80 bpm and her kidneys were functioning at only 25% and she was back on oxygen full time. This was the second time they asked us to sign a DNR. We felt the end was near and started to accept that this was her fate. They moved us to a private room so we could stay with her when she passed. But again, she amazed everyone; she started urinating again despite the doctors having done nothing to help her. Two days later, on August 2, 2006, we took her home again. She was not where she was two weeks ago, but she was also not in the same place she was two days ago. I think this was when we finally realized how sick she was, that she was not going to recover or live with this disease, that we were going to lose our miracle baby. But still she was defying odds time after time so no one, including the doctors, knew exactly what to expect from our amazing little girl.

On August 9th we took her to CHOP for her now routine blood work. Her lab results and a chest x-ray were normal and no one could understand how. Dr. Kaplan was ready to turn in his stethoscope. But she still had lost most of her muscle strength and could no longer hold her head or smile. That Friday, she stopped urinating again. The doctors said there wasn�t anything they could do, so we should wait until Monday to bring her instead of the Emergency Room.

Monday, August 14th, we took her back to CHOP for more blood work. The results showed that her kidney function had decreased more and her muscles were weakening quickly. We took her home, with the intent of bringing her back on Wednesday to see Dr. Kaplan again.

When we arrived home, we took her out of the car and her breathing was more labored than it had been earlier, but she was wide awake. We put her on the kitchen table in her infant car seat and went into the other room to say hi to my four year old son and my mom. I went back to the kitchen to take her out of her seat and she was not breathing, just two hours after the doctor said she was stable.

Now, many months later, we still do not know what caused this to happen. The best the doctors can tell is that she had a rare genetic metabolic disease - Complex C Oxidase Deficiency (COX Deficiency). It could be inherited (autosomal recessive) or simply a spontaneous mutation; they can not determine that without isolating the defective gene in her. Our eight-year-old son is fine, but he may be a carrier. Without knowing what and why this happened, we have decided not to have any more children, because there is a 25% chance that this will happen again.

Because of our loss and our desire to help other babies similarly afflicted, we are soliciting support for CHOP�s Metabolic Disease Research Department. Their capabilities in this department are limited. Because all the testing is done by outside laboratories, parents are forced to wait six months for results. CHOP has received some grant money to expand their department and we are looking to help them. More needs to be known about this group of diseases so that we will one day know the name and the cause of the disease that took our little girl from us at 8 months.

For more information, please contact Dina Maio