Born in 9th February 2006, starting promisingly with a 10/10 APGAR score, with body height top 95 percentile, Aleks is everything any proud parent want in her/his child. “Aleks got my eyes…, he sure has my good gene…, he’s as beautiful as me…”, both my husband and I staked our claims in the maternity ward. In spite of the controversy, Aleks came into our world and made such a beautiful impact, a sprightly boy with his infectious smile who brings exultations to everyone around him. His arrival brought new meaning to the insouciance we sought to grow as a family.
During Alek’s routine check-up when he was six-month old, his pediatrician noticed something was not right with him. Aleks’ blood count was extremely low with enlarged spleen and liver. Subsequently, for the next two years, Aleks made several visits to hostipals and specialists and unerwent numerous blood tests without any conclusive diagnosis. I decide to take a short break begining 2008, after working for more than fifteen years, longing to dedicate more time with Aleks with his undiagnosed medical condition and his older brother, Tyrone, who was then starting his first year in promary school.
In December 2008, Aleks was diagnosed with Gaucher Disorder a rare genetic disorder virtually unknown in this part of our world. He is believed to be the first and only patient to be diagnosed with it in Singapore. Confronted by the abyss below, one of the first steps we took was to write and/or meet with medical professionals, drug companies and foreign rare genetic disorder organisations/ societies seeking guidance and sharing their experiences. We were indeed gratuitous for it opened up our eyes that help was not rare even from without when we asked. Then we learnt that for Alek’s case, the only approved drug for treatment (by other national health authorities) that was available is an enzyme called Cerezyme which is produced by the pharmaceutical firm, Genzyme. We too are in contact with another company whose treatment drugs are still on clinical trials and awaiting approval from FDA of USA.
The prices for Cerezyme and other “orphan drugs” are very expensive. The cumulative dosage for Cerezyme is positively correlated to the weight of the patient. Aleks now weighs eighteen kilograms and will require four vials of Cerezyme for his treatment (or Enzyme Replacement Therapy, or ERT for short) a two-weekly intravenous infusion of this drug. The estimated total cost for his annual dosage of Cerezyme work out to be SGD150,000.00. We came to know doctors caring for patients with rare genetic disorders in Singapore had attempted to put forward the tenets that the authority should fund what is standard of care for their patients but until now to no avail even though these drugs have been proven to “reduced morbidity and mortality”. For these exceptional women and men, getting these expensive drugs listed as “Standard Drug List” means their patients can have ready access to them.
In July 2009, Aleks was inflicted with H1N1 influenza A which rapidly turned into pneumonia. He spent more than a month in the Intensive Care Unit. For all my life, I could not remember being so helpless. I stayed in the hospital for more than a month with Aleks, visited the temple almost daily, praying for Aleks recovery. I seek every doctor I know or, yes, within my sight to help Aleks. I remembered a very senior doctor who visited Aleks told me that Aleks was a very sick child and that I have to be strong. I saw and comprehended from a distance some nurses and doctors telling my husband to take care of me and that I need to be strong. I am strong and sound, I told them, but please, I beg you all to help Aleks.
Today, we are most grateful to the team of doctors and nurse who saved Aleks. Once off the invasive respiratory support system and was conscious, Aleks initially fought hard to remove the respiratory aids, which looked unfamiliar and threatening and was definitely very uncomfortable for his delicate physique. We told him, as the bravest child, he was chosen, to be on a very important mission and has to train as a jet fighter pilot, thus the need for the oxygen mask. He gave a selfreassured smile and that when he went along with the “mission”. There it was, our brave Aleks, on a “pilot training” sortie and away from the jaws of mortality.
Aleks has been going for the two-weekly Cerezyme ERT at KK Women’s and Children’s Hospital for almost two years and is very much better now. Look at him, so full of life, bright, cheerful, and at times mischievous, very much like any other five- year old boy, except that he has to make a trip to the hospital twice a month and spend about five to six hours there to replace the missing enzyme in his body via intravenous infusion and braving the now familiar “needle” insertion.
Following are Aleks’s very encouraging medical results from Cerezyme ERT:
• Spleen has reduced from 25 cm to under 10 cm • Liver has reduced from 5 cm to 2 cm • Hemorrhagic count has increased from 9.5 g/dL to 13.1 g/dL • Palette count increase from 50,000 to 100,000 per ?l of blood (150–450 x 109/L) • Human plasma chitotriosidase level measured in December 2010 was at 2,322 nmol/ml/h, a vast reduction from 8,030 nmol/ml/h obtained in January 2009
Thrust into the Gaucher world, we remain positive and really want to be able to persist and function like a normal family and to bring up children whose dreams and aspirations must not be impeded by “permanent” obstacles. On our own we will do our best to see that Aleks will be well and have a bright future.
Meanwhile, little Aleks, as his cheerful self, continue to charm people around him with his wits and infectious smile. The intravenous infusion of ERT, twice monthly, has not oppress our cheerful Aleks, instead Aleks is now, the little ambassador in the Children Therapy Unit, reassuring other children, not to be fear of the intravenous infusion.
“It’s not pain, see, doctor set plug for me, I did not cry”
Even though, at this moment, Gaucher patient may need live long treatment, we choose to see light at the end of the tunnel, reading encouraging medical news, medical profession finding great break through, which may lead to possible cure for Gaucher disorder.
As a patients parent, we hope to raise awareness of the rare disorder, the right for survivor, and the need for treatment beyond economics and politics. In seeking sustainable treatment, we believe Singapore