Damian and Jesse-Rose
What was our diagnosis MPS I or Mucolipidosis III?
Our gorgeous children have had symptoms from birth. Damian has had 2 operation on his fingers to release the tendons and Jesse-Rose has had 1 operation. Damian has also had an operation for grommets due to glue ear and large adenoids taken out. Since Jesse-Rose was born we knew whatever it was, it was genetic as she had the same finger locking issues as Damian. Nothing seemed to come of any diagnosis though, a couple of operations, request for genetic testing (showed nothing, but they had no idea what they were looking for), and a heap of childhood ailments, middle ear infections, Jesse-Rose not walking until 18 months, losing some enamel off her teeth, continuous colds & runny noses.
In 2011 when Damian started school the teachers soon noticed that he became more tired than other children, he wouldn't pull himself up on climbing equipment, ran on his tiptoes, had a short attention span in class and refused to do some of the classroom work.
We booked him into to see the same pediatrician that Jayden (oldest child of mine) had been to regarding ADHD. Dr Warnock said 'Uh No I think he has MPS 1'. This was 2 weeks before Christmas. Dr Warnock sent off a urine test to Brisbane which took a weeks to get a result. In that time you can imagine how Richard and I were feeling - we started looking up everything we could on MPS 1. The result came back negative, but by this time we knew Damian had something like this as the symptoms were the same.
In May 2012 the Metabolic clinic from Brisbane made appointments for Damian at the Cairns Base Hospital. We took Jesse-Rose with us as we wanted them to see that they had similar issues. We saw Dr Coman who said yes they have something, it might be a cousin of MPS. which is a Lysosomal Storage Disorder, which have about 50 different types within this category. Damian received a full head to foot X-rays. We received a call from Dr Coman a week later. He wanted to have the X-rays studied by the clinic in Brisbane. He told Richard yes they do have a Lysosomal Storage Disorder, Damian already has spinal, hip damage. We were pretty devastated. Dr Warnock set up blood and urine tests for both children which was sent immediately to Adelaide for conformation of the diagnosis.
3 weeks later we had our next appointment with Dr Warnock who advised us he had not received a diagnosis yet, while saying that the Receptionist walked in with a fax from Adelaide advising of the diagnosis. He let us know they had ML III. I had not studied that one much, funny really since I had already diagnosed them myself - Mrs Wikipedia Queen!!!, here as having MPS 1. ML III is very similar to MPS 1, and that is what Dr Warnock had originally thought as well.
There are pain treatments that can help (Pamidronate). There is no cure for any of them, its really devastating to hear that your babies are not going to grow up physically and mentally normal.
Now we know the condition, mostly everything I remember from the last 6 years I think, oh that explains that. Damian has had a difficult time walking for awhile now. He is actually pretty switched on in walking so it doesn't hurt too much. His hips have bone damage and so does his neck. He hardly ever complains. We thought Jesse-Rose had a lactose intolerance, as she always had a sore stomach only to find out if was one of the proteins in the milk, so we now buy A2 milk, which has helped her tremendously. Guess she just couldn't process that protein as well as her own proteins in her cells.
I received great advice from another MPS parent, who suggested that we have an expanding file for each doctor/school/specialist report. So I got very organised, Damian's file is huge already. We have an appointment coming up for Damian at school, he will need specialised teaching so he retains as much memory & intelligence as possible, as it is very likely they will end up with an intelligence level anywhere from a 9 year old to a teenager/young adult.
We have had amazing and awesome support from our specialists (Jesse-Rose loves Dr Warnock, she calls him 'our doctor' Damian's & her's whenever she hears us mention his name:), our family, friends & work.
We moved from Cairns to The Gold Coast (50 minutes away from a major hospital & where our metabolic clinic is). This was a very difficult time, but has turned out to be the best decision we have made so far. Originally our doctors said we didn't need to move, but we felt being closer to all the specialists would save time, money & less days off work. Financially the decision to move was hard at first, but Richard has built up his work as a vinyl applicator which takes the monetary stress away. I still work full time with the hope that I can go part time in the next few years as Damian & Jesse-Rose require more care.
Damian has stopped Pamidronate after 1 year of treatment, we are waiting for an MRI & also X-rays from our spine and neck orthopedic specialist to see if there has been an improvement or at the very least no further damage.
Damian uses his wheelchair quite regularly, he saves his legs for play. Jesse-Rose gets a wheelchair soon for shopping and long trips. Jesse-Rose's hands are getting worse, I massage them every night in the hope that they become more flexible. They both go regularly for Hydrotherapy.
Whatever our journey is, it will be one that is perhaps more heartfelt and precious than it might have been prior to receiving this diagnosis.
Written by Juanita, Damian and Jesse-Rose's mum