Jessica's story - tyrosinemia

Jessica was born on Thursday, October 22, 2009, weighing 7lbs 6ounces.  She is our third child, with two older brothers ages 4 and 2 who, like my husband and I, immediately fell in love with our new baby girl.  As I was recovering from my 3rd c-section in 4 years, and am not a fan of hospitals, I felt I would recover more quickly at home with the help of my family, and I was eager to be discharged.  The nurses at the hospital did everything they could to make sure that Jessica received all of her tests, including the newborn screen, as quickly as was permitted.  Finally the time came when we were ready to come home and the nurses just needed to weigh her.  All babies lose some of their birth weight initially, but Jessica's loss was higher than expected.  We both knew that Jessica was breastfeeding like a champ, and after verification of this with the lactation consultant, we were given the OK to go on Saturday afternoon and told that the weight loss was most likely due to the fluids I received for the c-section.  My husband and I requested to bring her back on Monday for another weight check.    

When we went back, Jessica proved to still be losing weight.  The nurses decided to run some extra blood tests, and we waited nervously for the results.  The results from those tests came back normal, and we were told that it was not necessary to come back to the hospital as we had her 1 week appointment with the family doctor on Thursday.

Thursday came and Jessica had her first well baby appointment.  Her weight was down again, but the loss appeared to be slowing and she otherwise checked out fine.  We made an appointment for the next week and went home.  On the way home we stopped to go through a drive thru, and then continued home. 

When we arrived, we had 3 messages on our answering machine.  The first from the McMaster Children's Hospital telling us to call back as soon as possible, the second from our family doctor who had just spoken with McMaster and wanted to speak with us as soon as we got home, and the third, another call from McMaster urging us to call back.  A feeling near panic went through me.  I didn't want to get too upset in front of the kids, but it was difficult.  Why the urgency?  What was wrong with our little girl?

Before my husband and I could even begin to process the messages the phone was ringing again.  It was McMaster.  Jessica had tested positive for a rare metabolic disorder called tyrosinemia type 1 and we needed to bring her to McMaster early the next day for further testing to confirm the diagnosis.  Was there a chance it was a false positive?  Very unlikely we were told.  Reeling from this news we began our research that night on-line and what we read was frightening.  There is no cure, but it could be managed, and we needed to know as quickly as possible.  Left untreated, tyrosinemia allows a build up of the amino acid tyrosine in the liver and kidneys, leading to failure of the organs, and death.  With treatment however, and lifelong diet management, her prognosis could be very much improved.

Bright and early Friday morning we arrived at McMaster.  We met with Dr. Potter and his team in the genetics department, and learned about the condition, treatment, and what this would mean for Jessica and our whole family.  Treatment was started immediately, even as we awaited confirmation.  Dr. Potter went out of his way to get her the medicine she would need, which was in Toronto, and met my husband back in Hamilton at 10:30pm that night so we could start her on it.  Confirmation came on Monday that she does in fact have tyrosinemia type 1.

Tyrosinemia is quite rare, and because of this making contact with other families dealing with it has been difficult.  We did manage to connect with a family in the United States, who sadly lost their daughter to tyrosinemia as it was not on the newborn screen in her state.  We cannot express how grateful we are to live in the province of Ontario which screens for this and many other serious conditions.  Because of this screen and the wonderful team at McMaster we will be able to see our daughter grow up and live a normal life.

Thank you so much for all that you do to help those who cannot help themselves.

Julie & Jeff