Lianka Venter was born on the 10th of October 2017. The morning when she was born the doctor immediately noticed something was not right as she was very weak and cried softly.
She was immediately taken to NICU and put on oxygen. After 2 days she was able to breathe on her own, but she could not swallow, so she had to be fete through a tube in her nose. The doctors suspected that there was something wrong with her muscle tone.
Lianka had an operation after 3 weeks to put a Mic-Key feeding tube in her stomach for nutrition because at this stage she could not swallow. They did an “anti-reflux” operation to prevent her from bringing up the feeding, and also took a piece of muscle from her upper leg to send to the Red-Cross Children Hospital for a biopsy. After a few weeks the doctor received the results and she was diagnosed with Myotubular Centronuclear Myopathy. Under this diagnoses there are five different categories under which she could be grouped.
In February 2018 her parents had an appointment with Prof. Jo Wilmshurst and her medical team from Red-Cross Children Hospital where they were Informed that she tested negative for one of the above diseases that are common to South Africa. After further testing it was confirmed that she has Congenital Myopathy – probably Central Core Disease. With this diagnosis there are also different categories.
Prof. Jo Wimshurst and the panel`s feeling is that Lianka will need a further biopsy at a later stage to determine in which category she is grouped. As this disease is not common to South Africa, the biopsy will be done overseas. At this stage her diagnosis is mild and we hope and believe that she will just get better. For the first few years of her life it is very important that she does not get exposed to sick people or children, as her chance of getting very sick and being hospitalised is very big.
Lianka is a beautiful little girl with the greatest smile that needs intensive speech therapy, physio, water floating, dietitian, pediatrician, and a loving mother that had to give up her work to look after her full time.
Fundraising for Lianka Venter
Angelic Creamy-Peach Bracelets for Lianka; consisting of cream and peach wooden beads – with an Angel, I love Jesus or Cross charm. There are 3 different bracelets and also a limited edition bracelet with a rose (while stock lasts only!).
To place an order, contact the agent in your area or shop online.
Alternatively, please consider a donation towards the cause. Any and all donations welcome. REF: Lianka Venter.
What is Central Core Disease?
This weakness affects the muscles near the center of the body (proximal muscles), particularly muscles in the upper legs and hips. Muscle weakness causes affected infants to appear “floppy” and can delay the development of motor skills such as sitting, standing, and walking. In severe cases, affected infants experience profoundly weak muscle tone (Hypotonia) and serious or life-threatening breathing problems.
Central Core Disease is also associated with skeletal abnormalities such as abnormal curvature of the spine (scoliosis), hip dislocation, and joint deformities called contracturesthat restrict the movement of certain joints. Many people with central core disease also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant Hyperthermia.
Malignant Hyperthermia occurs in response to some anesthetic gases, which are used to block the sensation of pain, and with a particular type of muscle relaxant. If given these drugs, people at risk for malignant Hyperthermia may experience muscle rigidity, breakdown of muscle fibers (Rhabdomyolysis), a high fever, increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. The complications of malignant Hyperthermia can be life-threatening unless they are treated promptly.
Central Core Disease gets its name from disorganized areas called cores, which are found in the center of muscle fibers in many affected individuals. These abnormal regions can only be seen under a microscope. Although the presence of cores can help doctors diagnose central core disease, it is unclear how they are related to muscle weakness and the other features of this condition.