22 months back... During Thanksgiving time in 2013 we were excited, at the same time nervously waiting for our daughter to born. Everything went very smoothly and we named her “TIA” (TIA meaning Goddess: Goldy in Greek). She was perfectly fine and a healthy baby at the hospital. After coming home, she cried throughout all days and nights. Initially we thought she was being fussy due to gas but that crying was not normal. She reduced drinking breastmilk and eventually completely stopped. After few days at home she hardly opened her eyes, only kept crying and sleeping due to tremendous cry. The screening results came back little late due to the Thanksgiving week . On the 6th day of her life I received a call from a nurse saying one of her screening test was not normal and asked that we have her amino acid tests redone. She also scheduled a follow up appointment for the next morning with a pediatrician for ketone detection in urine. (We were not told what was wrong with my child. I asked that to the nurse, she said to get her amino acid test done and if results come back abnormal again then the doctor will let us know.)
On next day around 8 o’ clock, we headed to the pediatrician’s office and waited so long for her to urinate for the ketone test as she was dehydrated. Finally we got a little bit of her urine in the cotton balls and the test was performed around 11o’clock. The test was positive for ketones, and the pediatrician directed us to go to Nationwide Children’s Hospital Emergency room. He said Genetics and Metabolic doctors would be waiting for Tia and they would give us further information. At the hospital we met Dr. Dennis Bartholomew and his team who on the way to Emergency room explained about MSUD, a rare metabolic disease. They started her IV immediately after admission to get her hydrated as she had lost one pound in a week from not drinking. On the second day of admission, her formula was going through a naso-gastric tube but Tia started having reflux so they inserted a naso-jejunal (NJ) tube. As her leucine levels didn’t drop significantly from her initial level of 3000, the doctors decided to move her to ICU for most immediate care. Finally after few days her levels stabilized and she opened her eyes. As the levels started to come down she started drinking a little from a bottle but continued to get formula through the NJ tube. We came back home after 22nd day of birth where we continued to feed her via mouth and NJ tube. Within a few days, her NJ tube was removed as she started showing interest in drinking her formula.
During the first year of Tia’s life, her leucine levels fluctuated a lot and she had to go to the emergency room a couple of times. She reduced drinking her formula both times, and I was told that if she doesn’t have at least 60-70% of her allocated formula for 2 days, then she should be seen by a physician in the ER. We were sent back home without being admitted both times as all of her tests were normal and we switched her to a sick day diet to get her on track. (Now also she reduces her formula intake sometimes even though her ketone tests are negative.)
Family and friends back in India wanted to meet our newborn. Knowing her condition had been stable for some time, we made a decision to go for a 20 days trip to India when she was 14 months old. I didn’t want to change a single thing about her diet during the trip so we shipped out everything before we went there including formula, low protein baby food, juices and nursery water supply worth a month. In India, the metabolic clinic was around 700 miles from my parent’s house. During our 2nd week, she developed diarrhea and vomiting which lasted for half of the week. We kept giving her formula, juices and water during that time to keep her hydrated.
We did attend a marriage of my cousin back in India. Tia spent a good time, seeing so many people around playing with her. She became more social and started to get along with most of the family and friends. Everyone was really happy to meet her and mostly, we were very happy to see her enjoying herself. Overall it was a good memorable trip back home. We have seen a major change in her nature of interaction. Before the India Trip she was very introverted and wouldn’t go to anybody except us and after the India trip she was completely a different Tia to us, more social and happy.
After the India trip we took other trips to California (Disneyland California, Los Angeles, San Diego and San Francisco) and Niagara’s falls, NY. We brought formula, medicines, foods, etc. wherever we went with her. The local metabolic doctors were informed that Tia would be coming there and we also had their contact information just in case we needed them. Tia had two hospitalization during her second year. One was due to an ear infection and resulted in reduced formula intake (but at that time her leucine levels were low) and another hospitalization was due to increased leucine levels.
We are eagerly waiting for outcome of Buphenyl trial by Dr. Lee. Looking at past months no doubt we had some ups and down but seeing her running around and calling us Mummy and Daddy we forget everything.
Tia’s Tale - 22 months old