The following blog post was written by Tammy MacNicol about her son, Jacob.
Jacob was the first child diagnosed with HCU in Queensland, Australia following the start of newborn screening there. Tammy is very active in the HCU community, and is the creator of the Facebook Support group: Homocystinuria Support is available!!! I know many HCU families are grateful that she & her friend Kath Fricke have established an online support group where parents and patients from all over the world can exchange information. I'm honored to dedicate one of my Boston Marathon miles to her son, Jacob!
Jacob was born on September 15, 2006 and 10 days later, after the
newborn screening (heel prick test), we received news that he had elevated
levels of Homocystine and urgently needed to attend the hospital for another
blood test. The pediatrician informed my
husband, Andrew, and I that the test was probably just showing a false positive. It wasn’t however, a false positive, and Jacob
was trialed on Vitamin B6 but deemed unresponsive to it. From that point the pediatrician told us
that a Metabolic Physician would be in touch will us very shortly. I asked what the name of the disorder was and
he said “Homocystinuria”. I consulted
good old Google but I was terrified after reading about the disorder. I remember standing over Jacob’s cot
wondering how long this little baby boy would be in our family?
That night I received a call from the specialist Dr. Jim McGill who told me that Jacob was the first person to be diagnosed under Newborn Screening in Queensland. I was also assured that the information on Google was more relevant to non-treatment. The next day I received a phone call from Anita Inwood (metabolic nurse consultant) who works alongside Dr McGill. From that point on I have never felt so supported in caring for Jacob.
At the age of 4 and a half Jacob required a P.E.G. button due to medication refusal and in turn this led to increased levels of
Homocystine. Jacobs’s life is much
better now that he doesn’t have to drink his HCU Coolers orally.
Today Jacob takes three HCU Coolers per day and is also on
Vitamin B6, Folic Acid and Betaine. He
has some symptoms such as the brittle hair and nails and hypermobility in the
joints but nothing other than that. For
that we are grateful.
Although Jacob has had his share of struggles with
medication refusal and extreme anxiety issues, today he is a happy 7-year-old
boy who is charming, friendly, cheeky and quick witted. He has many friends at school and the
teachers and other students are very understanding and supportive of him. Even though Jacobs’s friends know he can’t
eat the same foods as them and has to have a special drink every day, he is
seen as one of the boys and treated no differently to anyone else.
If you'd like to make a donation to NORD's HCU restricted research fund in honor of Jacob, or another HCU Hero, please stop by my fundraising page for the 2014 Boston Marathon:
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