Marielé was born on 31 October 2005 at 37 weeks gestation. She was very small at birth weighing in at only 1,88kg with a head circumference of 28 cm. Doctors were not very optimistic about her prognoses and suspected Toxoplasmosis as the culprit. They discouraged me to breastfeed as they did not want to encourage bonding as they predicted that she would not live very long.
The diagnoses proved to be incorrect. It was later suspected that she was affected by the Cytomegalic Virus that she contracted while in the womb. A MRI was done, and we were informed that she had calcifications on her brain.
Amongst all the medical commotion, Marielé was drinking fairly strongly and exercising her lungs to great effect.
Ten days later she was discharged and we joyfully embarked on parenthood. Being our first child we were not sure what to expect but saw that she did not reach her milestones within the expected time frames.
At the age of six months she had a seizure and she was subsequently diagnosed with Cerebral Palsy (SpasticQuadriplegia) secondary to the calcifications on the brain.
She was put on anti-epileptic medication. She would also require extensive physiotherapy and occupational therapy for the rest of her life.
In 2007 we decided to move to Somerset West as we needed a bigger support system. Despite all her problems, she progressed well (although be it at her own pace ) and started to smile and say a few words.
At the age of three she started becoming anaemic and could not talk anymore. Suspecting liver problems, a liver biopsy was done. The biopsy revealed raised enzyme levels, but a functioning, albeit fatty liver. Marielé also suffered from continuous bladder infections since a very young age.
Shortly before turning four, Marielé became critically ill. Her haemoglobin levels dropped to two and she received a blood transfusion before she was transferred to Red Cross Children’s hospital, where we were told that she had gone into renal failure. She was placed on dialysis immediately.
After two weeks she started to urinate on her own again. However, her renal function was severely compromised. She did excrete sufficiently enough to not need dialysis anymore. She would be dependent on an extensive amount of medication to help assist her little body with the functioning of her kidneys. After two months in hospital she was discharged. She had to go for regular check-ups at Red Cross Children’s hospital to manage and keep an eye on her kidney function.
In 2011 she started attending Paarl School in Brackenfell. We moved to Bellville and met Professor Pieter Fourie. He became her and her sister Liza’s (who was born in 2011 ) paediatrician. In the same year it was also established that both siblings suffer from a genetic condition called Aicardi-Gautieres syndrome.
In 2011 fluid accumulated in the space around her little heart and a peritoneal drainage of the fluid was necessary. In May 2012 she was admitted to hospital with appendicitis. Her kidney function had stabilised and slightly improved even, and she was not admitted for kidney related complications that year. We had lots of ups and downs. But at least we had each other.
In 2013 repeated bladder infections lead to a kidney infection. The fragile kidneys went into renal failure again. After a month in CapegateMediclinic, she was transferred to Red Cross Children’s Hospital. The prognoses were poor. The nephrologists at Red Cross Hospital were rather frank with us. They told us that they did not think that she would survive and that continuous dialysis and a kidney transplant was out of the question because of her Aicardi-Gautieres Syndrome. Even if she was otherwise healthy, it is very difficult to get a kidney, and for a child for a disability, it is basically impossible. Just as the kidneys (against all odds) started to improve, she developed pancreatitis, which caused the kidneys to fail again. All oral feeds were stopped. She received TPN (feeds that went directly into the veins). During this time, Marielé’s heart stopped and she was resuscitated.
After about ten days, the pancreatitis did not improve and we were told that all treatment would be stopped. As pancreatitis is very painful, only her pain would be managed. On 11 August 2013 we were prepared for the worst. Marielé passed away on 16 August 2013, bravely fighting to the end.
Mariele loved her music and her stories. “LieweHeksie“ was her favourite. Her soft smile and soulful eyes will remain with us forever. We played “Dapper Muis“ for her at her funeral. Probably the first time ever that song was played in a church before. That song always seemed to cheer her up.
Liza Laurie was born on 11 January 2011 at 37 weeks’ gestation weighing only 2,4kg and with a head circumference of 32 cm. Initially she was doing really well. At three and a half months old she started to cry inconsolably.
We later learned that this is indicative of the later onset Aicardi-Goutieres syndrome (where areasMarielé had the early onset and the damage according to doctors had already taken place at birth). Liza started to miss some of her milestones. When she went for her four-monthcheck-up, she had not grown in line with the growth chart. Professor Fourie decided to do an MRI. The MRI was interpreted as Agenesis of the Corpus Collosum. Professor Fourie referred her MRI results to Professor Schoemann at Tygerberrg (a Neurologist ). He made a clinical diagnoses of Aicardi-Goutieres Syndrome.
Liza started wearing spectacles at the age of six months as the optical muscles in her brain are hypo plastic.
Liza also suffered from chronic bladder infections, andwent into kidney failure a couple of times. We are trying a new medication from overseas, hoping to slow the progress of her disease. Currently her kidney function is at 5%, and she also suffers from pancreatitis. Doctors are working hard to get her better, and we remain hopeful. Liza is a happy child, loving her stories and with eyes that look into your soul. One of her favourite things is to sit on your lap and just be with you, swimming and watching her favourite stories on her tablet.
The public can offer support by pledging time and expertise through voluntary services (e.g. therapists, etc.) or through financial contributions, be it through monetary donations, providing daily essentials (nappies, formula, etc.) or sponsoring equipment (wheelchairs, walkers, etc).
OUR BANKING DETAILS ARE:
FNB Business Cheque Account
Daniel and Friends Fund
Account Number: 62457695438
Universal Code (Branch): 250655