Brave young girl continues to overcome adversity
Miliah Prinsloo, who is four years old, was diagnosed with a rare disease and has been on the journey to recovery as she has been visiting hospitals since she was three weeks old.
A Jukskei Park family requires financial assistance after their youngest daughter was diagnosed with a rare disease.
Miliah Prinsloo (4) was diagnosed with 16q11.2q21 duplication after frequent trips to the hospital and tests conducted. Currently, Miliah is undergoing several treatments for symptoms at various healthcare facilities that cater for her rare disease including Charlotte Maxeke Hospital, St Augustine’s Hospital in Durban, Pinehaven Hospital in Krugersdorp and is frequently admitted at Wilgeheuwel in Roodepoort.
What is the 16q11.2q21 duplication?
According to the Rare Diseases website, the 16q11.2q21 duplication is a chromosomal change where a small number of material within chromosome 16 is abnormally copied. Chromosome 16 has two copies in each human being, one which is inherited from each parent.
Chromosome 16 spans more than 90 million DNA building blocks and embodies almost 3% of the total DNA in cells. The symptoms vary from person to person, and Miliah’s mother, Jade Schenckenberg said Miliah had had several diagnoses that stem from the 16q11.2q21 duplication.
Some of Miliah’s diagnoses that stem from the 16q11.2q21 duplication include:
- Global developmental delay
- Absence seizures
- Self-harm
- Speech impairment
- Obesity
- Intellectual delay
- Chronic sinusitis
- Diarrhoea
- Reflux and dysmotility
- Patent ductus arteriosus
- Murmur and hypertrophic obstructive cardiomyopathy (HCM)
- Neurological issues
- Metatarsus adductus (corrected)
- Hypermobility
- Ankle valgus deformity
- Flat feet
- Lordosis
- Left unilateral hypertonia
- Intermittent alternating exotropia
Described as a friendly, lovable and strong little human by her mother, with all the hospital visits, Schenckenberg applauded her daughter’s tenacity to keep going and not give up. This perseverance was shown when Miliah had surgery on her feet and was wheelchair-bound, she tried to get out of her chair and walk on her casts.
What a typical day looks like for the young child and her mother
A usual day begins with Miliah waking up at 05:00 to have something to eat and then heading either to school or her biokinetics appointments.
“Making Miliah breakfast or giving her snacks during the day, lunch and dinner is challenging as she’s allergic to gluten, dairy, fish and nuts, so she is very fussy as well. It makes things even harder as her sensory problems eliminate more solid foods,” Schenckenberg said.
“I will need to give her medication, change her nappies, and try and stimulate her so that she doesn’t get bored otherwise she tends to self-harm. Lately, she’s been having uncontrollable diarrhoea so it’s sometimes two to three packets of nappies a day.”
Schenckenberg also washes her clothing and bedding, does household chores, and gives Miliah her medication and formula bottle when she is to be put to bed.
Funding for treatment:
Both Miliah’s parents are involved in getting the necessary funds for her treatment but Schenckenberg mentioned that financial assistance was still needed for the toddler to receive appropriate treatment, and has turned to fundraising to get money for this.
“Miliah currently has neurologist appointments every few months, she does biokinetics twice a week. She has a live blood analysis coming soon and has a genetics appointment in Cape Town in February 2023.
“She should be doing speech therapy as well as occupational therapy, and see other specialists, however, there isn’t funding for it.”
Schenckenberg focuses on the positives:
Being the parent of a child with a rare disease, Schenckenberg spoke on the challenges of looking after Miliah, from keeping track of her allergies that continue to worsen to general concerns she has for Miliah’s well-being. However, there are still positives in watching her grow.
“As a parent of a rare-disease child, it can be mentally and physically exhausting, lonely and you seem to lose yourself. Having said that, Miliah’s smile, and seeing her growth and achievements, even small ones, make it so rewarding. She’s taught me patience, determination and pure love.
“I am constantly tired but constantly making sure her needs are met and she’s happy – all I’m striving for is giving her the better life she deserves. The worry of the unknown is soul-destroying because every parent wants to know their child will be living their best life. My children are my everything and they are my purpose.”
Details: jade21prinsloo@gmail.com or backabuddy.co.za/miliah-prinsloo
Share your thoughts on the Fourways Review Facebook page.
Related articles:
