The following blog post was written by Kath Fricke about her son Blake.
Blake was the first child diagnosed with HCU in Victoria, Australia following the start of newborn screening there. Kath is very active in the HCU community & is a moderator on the Facebook support group: Homocystinuria Support if available!!! I am SO excited to dedicate one of my Boston Marathon miles to this brave boy!
I’m a mum of three beautiful children, 2 boys and a girl.
Blake (age 7), our middle child, has a rare genetic disorder called Homocystinuria.Blake was the first child in Victoria, Australia diagnosed with Homocystinuria from the newborn screening at only a few days old. He is B6 non-responsive.
We believe that, from results of constant blood work, Blake is CBS deficient, but are still working towards the exact diagnosis.I remember the day I brought Blake home from hospital & how the next week would change our lives forever. We got a call from the hospital saying the newborn heal prick had not been taken properly and I needed to take him back for a blood test from an artery. I assumed this was the case until a specialist called and said we need to come see him immediately as there “was something wrong with your baby”. I remember my sister coming over that day to support me. I was so scared. Lots of big words, and the thought there could be something wrong was terrifying.
The day of the specialist appointment we had no idea what we were dealing with & as you’ll soon read neither did the specialist.
We sat down and heard the word Homocystinuria for the first time. I asked, “What is this?” I can’t even pronounce it let alone understand what is wrong with my baby.
The specialist took out a medical book from his shelf and flicked through pages.
“I’m sorry Mr & Mrs Fricke, but unfortunately your baby will be highly unlikely to survive past 3 years of age”. That was very hard to hear, until we saw the wonderful doctors at the Royal Children’s Hospital Murdoch research unit in Melbourne in the following days.
They assured us with strict diet and medications Blake will grow up to lead a relatively normal life.Blake has had some complications, but thankfully, none life threatening so far.
He first had a seizure at 8mths old & later a number of prolonged random ones. They would last about 45 minutes. We saw a neurology team, and Blake was diagnosed with epilepsy & he was placed on anti convulsants. They didn’t think it was HCU related.He has a VSD heart murmur, hyper mobile joints & severe leg pains since the age of 18 months. Still, no doctors can tell us why he has leg pains.
Blake is currently on B12 injections every two weeks, Betaine, folic acid, and XMet Maxamaid (medical formula).
Our lives are full with doctors, clinic appointments, and blood work – not to mention the challenge of protein counting everything that he puts in his mouth. Birthday parties and school events are hard, but Blake knows no different. He’s starting to take ownership of his diet, and understands what he can and can’t have and why.
He’s a beautiful 7 year old sports fanatic who is a great mate to all his friends. He does very well at school academically & socially. He is bright, energetic, caring and kind.
As for the specialist that said he’d not be here today; he will continue to prove you wrong and lead a wonderful life into old age.
Homocystinuria is a pain in the butt most days, but I’m thankful for it as we would never have met my wonderful friends in Queensland who are such a support for me and my family.
I’m blessed to have happy, healthy kids. I hope one day there is more funding for research and possibly a less complicated treatment available to all those with this disorder.
If you’d like to make a donation to NORD’s HCU restricted research fund in honor of Blake, or another HCU Hero, please stop by my fundraising page for the 2014 Boston Marathon:
http://www.firstgiving.com/fundraiser/kristinrapp/bostonmarathon2014