Charlotte was diagnosed at seven years old. (At the time she was born, Australia had newborn screening for other metabolic disorders such as PKU, but they did not screen for HCU.). She was initially prescribed glasses in grade two, when her teachers noticed she would get out of her seat and come up and read the board.
We were shocked to discover how bad her vision was, particularly in her right eye (she is now legally blind in this eye). She could not even see the amount of fingers being held up two meters away! It made a lot of sense out of some things; for example, Charlotte walked very late as, of course, she could not see her surroundings, although her close up vision is not as bad. Charlotte’s adaption to her poor vision was (and still is) quite amazing – but glasses made a huge difference. At swimming lessons (where she had to take her glasses off), she remembered what colour bathers her two friends were wearing and then looked for that coloured blob in the water (one with brown hair and one with blonde)!
Her opthalmologist noticed a subluxation of her right lens at a standard check up and referred her to a paediatrician for further tests. The paediatrician was immediately suspicious that she may have Marfan’s Syndrome or HCU. Further tests – cardiac function, neurological, blood, urine etc lead to her eventual diagnosis. We live three hours from the closest metabolic unit so the initial testings meant many hours in the car! However, the Metabolic Unit at the Adelaide Women’s and Children’s Hospital has been fantastic as has the Flinders Eye Clinic.
Charlotte is B6 responsive, she initially took four 100mg tablets of pyridoxine and one 5mg folic acid which brought her levels from 230 back to around 50. She has monthly blood tests to monitor levels and if they are below 50, her specialist is satisfied. However, the large doses of pyridoxine have led to peripheral nerve damage and she has very shaky hands. Charlotte recently had a neurological conduction test and her specialist then cut her back to three pyridoxine tablets per day (to settle the shaking) and as long as her levels remain under 50, he is happy. This is being monitored very closely. She was having two tablets in the morning, one at school and two at night but now having only four tablets. She is happy not to have to take one at her new school (Charlotte just started high school).
Charlotte is lucky that she is B6 responsive, as she has always been a huge protein eater – meat, bread etc. Other than her glasses and long, and rather uncoordinated limbs - to look at Charlotte you would not know she has any medical issues.
Daily medication, regular metabolic and eye check ups and monthly blood tests are the main effects on Charlotte’s life. She will need to have both eye lenses replaced at some stage in the nearish future. I have two sons who were tested after Charlotte’s diagnosis – one carries the gene and one is totally unaffected.
HCU has been a huge learning curve. Our relatively isolated area and the small amount of information in Australia (I believe there are only around ten sufferers of HCU in Australia) has meant I have had to look further afield for information. And while the internet is a good source of info, I found there are also a lot of horror stories and misleading information about rare diseases.
My greatest source of information and support has been through Facebook HCU support groups, where those affected, and their families can offer and ask for genuine advice. It is great to know someone else understands what you are going through, even if they are in a different country and thousands of kilometers away.
If you'd like to make a donation to NORD's HCU restricted research fund in honor of Charlotte or another HCU Hero, please stop by my fundraising page for the 2014 Boston Marathon:
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