“Baby Juvan Meyer was born at 30 weeks and 5 days, on the 14th of July 2023. He was 1.66kg and 40.5cm, and he had an enlarged abdomen.
When they started to examine him with X-rays, CT scans and blood work, they found a meconium cyst and he could not pass stool. They also found symptoms of Cystic Fibrosis.
On the 4th of August 2023 he had his first surgery, where they removed the cyst and they discovered that the small bowel had atresia. They had to cut off a piece and attache two colostomy bags, one at the small bowel and one at the colon.
He still can’t pass stool, so they did some more scans and it seems as if the colon also has atresia. They will have to remove that piece as well.
The doctor already told us what to expect. If they are right about the colon, Juvan will have to live with a colostomy bag for a few years, before they can do reconstructive surgery.
His cystic fibrosis (CF) tests also came back positive and he has two rare types of CF.
He is in Bloemfontein Mediclinic and we are from Olifantshoek. It is 420km from where he is. Our expenses to be with him are a lot and we can only go to him every second weekend. We also received a few medical bills already, which the medical aid did not pay. We need all the prayers and help we can get. Please pray for our baby.”
Please open your heart and support our fundraiser for Juvan by purchasing his “Breath is Life” bracelets. All proceeds are donated towards his ongoing medical care and expenses where needed – together we CAN make a difference in this precious boy`s life!
Alternatively, please consider a donation, any and all donations welcome. REF: Juvan Meyer.
Fundraising for Juvan Meyer
Breath is Life Bracelets
The “Breath is Life Bracelets” consist of wooden beads with silver and diamante fillers.
Bracelet Options: 1. White and grey with cross charm. 2. Blue, white and grey with angel charm. 3. Blue and grey with feet charm.
Divan Conway is a 11 year old boy who was diagnosed with Lissencephaly (smooth brain), Cerebral Palsy, and Epilepsy (West Syndrome). He currently weighs 40kg, he can not walk or talk at all, and his mother has to carry him everywhere.
Divan suffers from extreme cerebral palsy therefore he cannot walk or sit on his own nor can he speak. As a result of constantly being in bed he developed chronic lung damage. He will be using nappies for the rest of his life and therefore also linen savers.
Due to his special needs, mom had to leave her job to take care of him.
Divan has epilepsy and has 5/6 fits on a daily basis, and is on six types of medication: Epilim, Keppra, Sabril, Rivotril, Epanutin and Ativan. The epilepsy is extremely challenging to control.
He regularly contracts infection in his lungs due to all the mucus and lack of movement, and has been admitted to hospital repeatedly for Acute Upper Respiratory infection. Mom has to clean his throat and nose with a suction machine to remove all the mucus that he doesn’t swallow. Divan has a feeding tube because he can’t eat and drink, and can only consume milk and water. He also struggles with bladder infections because his bladder does not get rid of all the urine. It is mom`s duty to empty his bladder for him at home using catheters.
Please open your heart and support our fundraiser for Divan by purchasing any of his “Little Soldier” bracelets, “Hope for Divan” bracelets or key ring. All proceeds are donated towards his ongoing medical are and expenses – together we CAN make a difference in their lives!
Alternatively, please consider a donation, any and all donations welcome. REF: Divan Conway.
“Brody Van Der Schyff, a 2-year-old resident from KZN, South Africa, was diagnosed with an extremely rare disease called CHARGE Syndrome when he was just 1.5 months old in 2021. Brody has spent more than 60% of his life in hospital, fighting life-threatening recurring bacterial infections.
Brody was born with a Horseshoe kidney and Grade IV Vesicoureteral. He had multiple surgeries to try prevent infections and UTI’s. Due to Genital abnormalities, Brody underwent Ureteral reimplantation surgery before he was a year old. At the age of 18 months Brody went into Kidney failure and had his Horseshoe kidney separated and received a Left radical nephrectomy in December 2022.
Over the last 7 months Brody had been living in absolute agony with 7 recurring E.COLI infections and multiple skin infections with constant itching and severe abdominal pain! On the 17th of July 2023 he was admitted for 19 days where they discovered he has a cyst on his right kidney, an inguinal hernia, a neurogenic bladder and multiple issues in his spine. After an MRI was done, he was diagnosed with Type II Caudal Regression Syndrome.
His inguinal hernia repair surgery has provisionally been booked for the 19th of August 2023.
We have been told by a Neurosurgeon that Brody would need spinal cord surgery to assist with the tethered cord as he can lose total control of his lower body. We will now first see a pediatric Neurologist to get a better understanding of what is going on in the spine as there are multiple issues to be looked at, and then we will see a Neurosurgeon to discuss what needs to happen and when. Brody will always have a neurogenic bladder, and this can lead to kidney damage. Due to Brody only having 1 precious Horseshoe Kidney, we need to protect his kidney. Brody has no bladder function control. His bladder does not empty out and this is what is causing the requiring Infections! We have been referred to go see a Pediatric Urologist In Umhlanga on the 24th of August to discuss a way forward for the neurogenic bladder.”
Please open your heart and support our fundraiser for Brody by purchasing one of his bracelets, two, or the whole set of three. All proceeds from the “Brody in Charge Bracelets” are donated towards his ongoing treatment, medical care and expenses. Together we CAN make a positive difference!
Alternatively, please consider a donation; any and all donations welcome. REF: Brody van der Schyff.
Fundraising for Brody Van Der Schyff
Brody in Charge Bracelets
The “Brody in Charge Bracelets” for consist of blue, coffee and white wooden beads with crystal, silver and diamante fillers.
“Meet beautiful little Jasmijn Duvenhage. She is our little superhero, fighting, like only a superhero can, since the day that she was born. Jasmijn was born via C/section with low Apgar scores and hypotonia and started choking, then turning blue on day two of life. Initially diagnosed with severe reflux, with temporal lobe epilepsy later confirmed at the age of 4 months. Complicated with West syndrome, diagnosed two months later.
By the Lord’s Mercy and Grace, West syndrome resolved at 10 months of age after battling through four months of very expensive steroid therapy combined with specific anticonvulsants.
Due to her underlying genetic condition (IDIC 15), Jasmijn’s condition was complicated with several different forms of uncontrolled epilepsy requiring yet another multitude of expensive anticonvulsant therapies, which (still to date) has not completely aborted the seizure activity. Little Jasmijn continues to have multiple daily seizures ranging in severity from quick and mild to completely life-threatening.
The ketogenic diet had been added about five months ago with a favourable, but still incomplete effect. This is still being titrated by a Specialist Dietician in the field and there is always hope.
Unfortunately this brave little girl, of whom her parents are very proud, started combatting recurrent viral pneumonia in mid 2022, these requiring admission for non-invasive ventilation leading to prolonged and very complicated hospital stays.
Her mother, despite being a medical professional, has not been able to go back to work since little Jasmijn had been born. She has been needed next to her little girl’s bedside to assist with her complicated therapeutic regime at home, as well as the hospital. This causes extreme financial strain as their home and their future plans were built on two reliable salaries.
To make matters worse, the medical aid has been helpful, but does not cover most of the expenses needed for Jasmijn’s basic care and the family is still in the process of reapplying for PMB cover. They have depleted their savings on their precious daughter’s care, with Jasmijn’s father working full time to support their family.
Thank you for supporting this brave little girl and our fight by purchasing one of these lovely bracelets from Arms of Mercy. Our Lord Jesus Christ bless you.”
Please open your heart and support our fundraiser for Jasmijn. All proceeds from the “Divine Grace Bracelets” are donated towards her ongoing medical care and expenses. Together we CAN make a positive difference and help a child in need.
Alternatively, please consider a donation; any and all donations welcome. REF: Jasmijn Duvenhage.
Fundraising for Jasmijn Duvenhage
Divine Grace Bracelets
The “Divine Grace Bracelets” for Jasmijn consist of wooden beads with silver and diamante fillers.
“Zachary is happy, incredibly busy, and he loves every moment of life. To Zach, the world is full of possibilities and endless fun, but shortly before his second birthday in March 2021, we got the news that Zach’s life will be nothing like we expected. He was diagnosed with MPSII.
Hunter syndrome is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. In Hunter syndrome, the body doesn’t have enough of the enzyme iduronate 2-sulfatase. This enzyme’s job is to break down certain complex molecules, and without enough of this enzyme, the molecules build up in harmful amounts. The buildup of massive amounts of these harmful substances eventually causes permanent, progressive damage affecting appearance, mental development, organ function and physical abilities.
Hunter syndrome occurs in 1 in 120 000 to 170 000 boys. There’s no cure for Hunter syndrome.
Treatment involves managing symptoms and complications through weekly Enzyme Replacement Therapy. This is an extremely expensive treatment but absolutely life changing and life saving. With treatment, life expectancy is much higher, meaning Zachary can live well into adulthood and live a healthy long life. Without treatment the disease will progress and life expectation is 12 to 18 years.
Signs and symptoms include:
• Reduced endurance • Vision problems • Reduced field of vision • Optic nerve damage • Glaucoma • Enlarged liver and spleen (hepatosplenomegaly) • Umbilical and inguinal hernias • Abnormal facial features (such as flat face, flat and depressed nasal bridge, slightly bulging eyes, enlarged tongue, thick lips) • Large head (macrocephaly) • Short stature • Lung problems • Reduced lung function • Frequent, recurrent lung infections • Sleep apnea • Potential developmental delays (some may have normal intelligence) • Potential slowing of mental development • Carpal tunnel syndrome • Fluid in the brain (hydrocephalus) • Compression of the cervical spinal cord • Thick lips • Enlarged tongue (macroglossia) • Abnormal teeth (widely spaced and very thin enamel) • Frequent ear infections (otitis media) • Hearing loss • Frequent and recurrent sinus infections (sinusitis) • Heart valve disease, especially aortic valve • Abnormal heart muscle (cardiomyopathy) • Irregular heartbeat (arrhythmia) • Angina • High blood pressure (hypertension) • Poor circulation • Joint stiffness • Skeletal abnormalities (dysostosis multiplex) • Abnormal hip formation (hip dysplasia) • Bone deformities in the spine (scoliosis, gibbus, kyphosis), or knees (knock-knees or genu valgum).
Zachary suffers from a wide variety of these symptoms, he therefore has an extensive medical team comprising of the following specialists monitoring and taking care of him: Paediatrician, Pulmonologist, Cardiologist, Ophthalmologist, Ear Nose & Throat Specialist, Neurologist, Occupational Therapist, and a Speech Therapist.
Unfortunately treatments and Specialists are extremely costly and medical aid does not cover all of this. We are continually in need of funds for those additional expenses.”
Please open your heart to Zachary and his family today and support our fundraiser. All the proceeds from his “Amazing Grace Bracelets” are donated towards his ongoing medical care, treatment and therapy. Together we CAN make a positive difference in his life!
Alternatively, please consider a donation; any and all donations welcome. REF: Zachary de Wet.
Fundraising for Zachary de Wet
Amazing Grace Bracelets – Ladies
The “Amazing Grace Bracelets” for Zachary consist of turquoise and black wooden beads with silver and diamante fillers.
“Lenè was born a bit early at 36.5 weeks but she was a normal healthy baby as far as the eye could see. When she turned 1 years old I started to worry because she was far behind her cousin who was 2 months older than her. We stayed in a small town with no therapists and doctors, and my father said we must be patient with her as she might just be a bit slow.
When she turned 19 months old she started to lift herself and at 21 months she was walking, but not that well. We moved back to Klerksdorp when she was about 2.5 years old. I was still worried at this stage as she was still on nappies and did not talk. We took her to the Potch University – Care2Kids program to get her assessed and see if there is maybe something wrong. After this I finally got a school that had the time to care for her as the special needs school had her for 1 week and asked us to rather take her out as there is something seriously wrong with her.
In February 2022 she was assessed by Dr J.C.K Strauss who found her to have an intellectual disability as well as a serious communication delay. We started looking around for a Paediatric Neurologist to assess Lenè as we need assistance with treatment and advise on the way forward. In May 2022 she went to see Dr C Erasmus in Pretoria who diagnosed her with Prader Willi Syndrome and ADHD among a list of things. She has a wide range of symptoms and we are eager to find answers so that we can help her have a better quality life.
Lenè turns 5 years old in February 2023. She is currently on 2ml Risperdal a day. This alone is R1900.00 a month. The day to day from our medical covers it but this will soon be depleted. Thereafter, all medicine must be paid in cash. School costs R1850.00 a month and then nappies work out to R165.00 a week. I cannot look for better employment as I need to take off a lot, when she gets sick or is too difficult, so I only get commission on cases completed… no work, no pay.”
Please open your heart to Lenè and support our fundraiser for this family in need – all proceeds from the “Uplifted in Faith” bracelets are donated towards her ongoing medical care and expenses. Together we CAN make a difference!
Alternatively, please consider making a donation. Any and all donations welcome. REF: Lenè Grobler.
Fundraising for Lenè Grobler
Uplifted in Faith Bracelets
The “Uplifted in Faith Bracelets” consist of grey and white wooden beads with crystal, silver and diamante fillers.
Charm options: Heart / Faith / Butterfly.
To place an order, contact the agent in your area or shop online.
“Amoré is a tenacious 7-year-old with 18Q Deletion Syndrome. She was diagnosed at six weeks old. 18Q Deletion Syndrome is a rare chromosomal disorder affecting the 18th chromosome. One in 40,000 newborns is affected by this chromosome disorder. There is no cure for her condition.
Symptoms range largely from case to case. Some features include low muscle tone, hearing loss, sight problems, heart defects, kidney problems and features of autism.
Amoré had open heart surgery at 6 months old and sees her cardiologist every 2nd year. She has been diagnosed with Nystagmus and Strabismus and wears glasses to help with these conditions.
There is currently no PMB for her condition and therefore all of her specialist consultations and therapy i.e. Occupational therapy, Speech therapy sessions are paid from their medical aid savings account which is generally exhausted within the first three months of the year. Most of her specialists are also not contracted in with the medical aid and therefore they need to pay cash for their visits. She is non-verbal but they pray for an augmentative and alternative communication device, which the medical aid does not pay for.”
By supporting our fundraiser for Amoré you can make a positive difference in her life – all proceeds from the “Never Give Up” bracelets are donated towards her ongoing medical care and expenses. Together we CAN change the world and help a child in need!
Alternatively, please consider making a donation. Any and all donations welcome. REF: AmoréDe Wet.
Fundraising for Amoré De Wet
Never Give Up Bracelets
The “Never Give Up Bracelets” for Amoré consist of white, blue and silver wooden beads with silver and diamante fillers.
Prader-Willi Syndrome (PWS) is a rare genetic multisystem neurodevelopmental disorder that affects a part of the brain called the hypothalamus. The hypothalamus is a gland in your brain which is responsible for regulation of all the systems in the body and control of hunger and thirst, temperature regulation, pain and stimulation hormone production amongst others. The disorder results in a number of physical, mental and behavioral problems.
PWS is caused by a lack of active genetic material in a specific region of chromosome 15 (15q11-q13). Individuals normally inherit one copy of chromosome 15 from their mother and another one from their father. The genes in the PWS region are normally only active on the chromosome that came from the father. There are 3 main molecular mechanisms that result in PWS: paternal deletion, maternal UPD 15, and imprinting defects.
A clear explanation of PWS symptoms, causes, diagnosis, genetics, treatments & research can be found on the Foundation for Prader-Willi Syndrome Research website. Watch the video below for a brief overview.
PWS was first described by Swiss doctors Andrea Prader, Alexis Labhart, and Heinrich Willi in 1956, based on the clinical characteristics of 9 children they examined. The common characteristics defined in the initial report included small hands and feet, small stature, very low lean body mass, early-onset childhood obesity, weak muscles at birth, insatiable hunger, extreme obesity, and intellectual disability.
PWS occurs in approximately 1 in 15,000 births. It affects both females and males of all races and ethnicities with equal frequency. Symptoms and severity may vary from one person to another. The symptoms also change over time in individuals with PWS, and a detailed understanding of the nutritional stages of PWS has been published.
PWS is recognized as the most common genetic cause of life-threatening childhood obesity. There is no cure for Prader-Willi syndrome but many patients will benefit from a supervised diet, and some symptoms can be treated with hormone therapy. Other treatments include feeding therapy, physical therapy, occupational therapy, strict food supervision, exercise program, and counseling. Scientists are actively studying the normal role of the genetic sequences in the PWS region and how their loss affects the hypothalamus and other systems in the body.
Milan Dale
May is Prader-Willi Syndrome Awareness Month
Individuals, families, communities, schools and workplaces, various organisations, Associations and Foundations around the globe come together in May to raise awareness of Prader-Willi Syndrome, and also to raise funds to provide support and fund important research into this complex and life-threatening condition. The official awareness colour for Prader-Willi Syndrome is ORANGE as it had been previously used as the awareness colour for hunger.
Display your support by wearing orange in May and help raise awareness for PWS!
*All information in this post is published for general information and educational purposes only. Arms of Mercy NPC and the armsofmercy.org.za website do not offer any diagnosis or treatment, and will not be held liable for any adverse health effects, losses and/or damages whatsoever. Any action you take as a result of the information is at your own risk, and does not replace the advice of a qualified medical practitioner. Always consult with your medical healthcare practitioner.
Cystic Fibrosis (CF) is an inherited life-threatening disorder that damages the lungs. It is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. It also causes severe damage to the digestive system and other organs in the body. CF hinders the release of digestive enzymes from the pancreas, which triggers malnutrition and causes lung disease that is eventually fatal and produces high levels of salt in sweat that can be life-threatening.
CF is characterized by abnormalities affecting certain glands (exocrine) of the body, especially those that produce mucus. Saliva and sweat glands may also be affected. Exocrine glands secrete substances through ducts, either internally (e.g., glands in the lungs) or externally (e.g., sweat glands). In CF, these secretions become abnormally thick and can clog up vital areas of the body causing inflammation, obstruction and infection.
Figure A shows the organs that cystic fibrosis can affect. Figure B shows a cross-section of a normal airway. Figure C shows an airway with cystic fibrosis. The widened airway is blocked by thick, sticky mucus that contains blood and bacteria. Source: National Heart Lung and Blood Institute (NIH).
Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. It causes these fluids to become thick and sticky. They then plug up tubes, ducts and passageways. See how the lungs work normally and how cystic fibrosis can affect the lungs over time in this video by the Cystic Fibrosis Foundation.
CF is a complex disease. The types of symptoms and the severity can differ widely from one person to the other. Many different factors can affect a person’s health and the course the disease runs, including the person`s age at the time of diagnosis. While the majority of people are diagnosed with CF by the age of 2, some are diagnosed as adults.
Symptoms of Cystic fibrosis can include the following:
Persistent coughing, at times with phlegm
Frequent lung infections including pneumonia or bronchitis
Shortness of breath / Wheezing
Chronic sinus infections
Nasal polyps
Very salty-tasting skin
Poor growth or weight gain in spite of a good appetite
Frequent greasy, bulky stools or difficulty with bowel movements
Clubbing or enlargement of the fingertips and toes
Rectal prolapse
Male infertility
The disorder was first recognized in as a specific disease by Dorothy Andersen in 1938, with descriptions that fit the condition occurring at least as far back as 1595. The name “cystic fibrosis” refers to the characteristic fibrosis and cysts that form within the pancreas.
Although technically a rare disease, CF is ranked as one of the most widespread life-shortening genetic diseases. It is most common among nations in the Western world, and occurs predominantly among Caucasians – about one in 40 carry the so-called F508del mutation. Two copies of the mutation, one inherited from the mother and the other from the father, cause the disease, while inheriting just a single copy cause no symptoms, and makes the person a “carrier.”
While significant progress has been made in treating the disease, there is still no cure. Treatment depends upon the stage of the disease and the specific organs that are involved. Treatment is geared toward reducing the thickness and amount of mucus in the airways, preventing infections, preventing blockage of the intestines and ensuring the proper intake of vitamins and nutrients.
May is Cystic Fibrosis Awareness Month – CF Genes Day 2022
The South Africa Cystic Fibrosis Association (SACFA) is a Non-Profit Organisation, and as such is the primary cystic fibrosis support group and driver of advocacy for the treatment of cystic fibrosis in South Africa. Their objectives include communicating with the CF community, raising public awareness and promoting medical advancements. Fundraising is essential to sustain these objectives.
Join CF Genes Day on25 May 2022! This event aims to create public awareness of cystic fibrosis in South Africa and helps raise funds for necessary medical equipment. In order to take part, each person needs to have a sticker and wear jeans. Individuals, groups, schools, and companies are encouraged to get involved, the proceeds raised will be used to purchase medical equipment and help spread awareness of Cystic Fibrosis in South Africa. See details here.
*All information in this post is published for general information and educational purposes only. Arms of Mercy NPC and the armsofmercy.org.za website do not offer any diagnosis or treatment, and will not be held liable for any adverse health effects, losses and/or damages whatsoever. Any action you take as a result of the information is at your own risk, and does not replace the advice of a qualified medical practitioner. Always consult with your medical healthcare practitioner.
Mowat-Wilson Syndrome (MWS) is a rare genetic disorder that may be apparent at birth or later in childhood. It is caused by an abnormality in the ZEB2 gene that is usually the result of a new genetic change (mutation) in the affected person. MWS almost always occurs as a new mutation. This means that in nearly all cases, the gene mutation has occurred at the time of formation of the egg or sperm for that child only, and no other member of the family will be affected. It is usually not inherited from, or “carried” by, a healthy parent. In a very small number of families, more than one child has been affected with MWS.
One rare finding is lack of a spleen, an organ that helps to fight certain types of infections. All individuals with MWS should be checked at the time of diagnosis to see if they have a spleen. This can be done through an ultrasound of the abdomen. Blood testing can sometimes also suggest that the spleen is absent.
MWS affects both males and females, and is estimated to occur in 1 in 50,000-100,000 births. MWS has been described in many different countries and ethnic groups worldwide.
MWS is characterized by distinctive facial features, intellectual disability, and seizures. Other congenital anomalies do occur in some individuals and can include a gastrointestinal disease known as Hirschsprung disease (40-50% of individuals) in which a narrowing of a portion of the colon is present, heart defects, eye defects, kidney abnormalities, male genital abnormalities, short stature, and absence of the area of the brain which connects the two cerebral hemispheres (agenesis of the corpus callosum).
Mowat-Wilson Syndrome, clinical features of Patient 1 at age: (A) 1 year and 6 months; (B-C) 5 years; (D-E) 13 years and 8 months; (F-G) 18 years. Source: Garavelli L et al, CC BY 2.0, via Wikimedia Commons
Children with MWS have a square-shaped face with widely spaced and deep-set eyes. They also have a broad nasal bridge with a rounded nasal tip; a prominent and pointed chin; large, flaring eyebrows; and uplifted earlobes with a dimple in the middle. These facial features become more distinctive with age. Adults with MWS have an elongated face with heavy eyebrows and a pronounced chin and jaw. Affected people tend to have a smiling, open-mouthed expression, and they typically have friendly and happy personalities.
Less commonly, this condition also affects the eyes, teeth, hands, and skin coloring (pigmentation). Although many different medical issues have been associated with MWS, not every individual has all of the features.
MWS is often associated with an unusually small head (microcephaly), structural brain abnormalities, and intellectual disability ranging from moderate to severe. Speech is absent or severely impaired, and affected people may learn to speak only a few words. Many people with this condition can understand others’ speech, however, and some use sign language to communicate. If speech develops, it is delayed until mid-childhood or later. Children with MWS also have delayed development of motor skills such as sitting, standing, and walking.
There is no cure for this syndrome. Treatment is supportive and symptomatic. All children with Mowat–Wilson syndrome required early intervention with speech therapy, occupational therapy and physical therapy
*All information in this post is published for general information and educational purposes only. Arms of Mercy NPC and the armsofmercy.org.za website do not offer any diagnosis or treatment, and will not be held liable for any adverse health effects, losses and/or damages whatsoever. Any action you take as a result of the information is at your own risk, and does not replace the advice of a qualified medical practitioner. Always consult with your medical healthcare practitioner.
February is Noonan Syndrome Awareness Month, and 23 February is Noonan Syndrome Awareness Day.
Wearing an Awareness Bracelet creates an opportunity to start a conversation and share information about a particular cause or disease. One conversation can have ripple effects and may ultimately improve early diagnosis, access to services, increase funding for research, and help reduce feelings of isolation as well as discrimination that so many individuals with rare diseases face on a daily basis. Shop Noonan Syndrome Awareness Bracelets.
Noonan syndrome (NS) is a variably expressed, multi-system genetic disorder that is present in about 1 in 1,000 – 2,500 births. People with NS may experience bleeding issues, congenital heart defects including hypertrophic cardiomyopathy and/or pulmonary valve stenosis, lymphatic abnormalities, small stature/growth issues, feeding and gastrointestinal issues, failure to thrive, hypertelorism, learning disorders, autism, unexplained chronic pain, chiari malformation, hypotonia, ptosis, skeletal malformations, laryngomalacia, tracheomalacia, opthamology issues, orthopaedic issues, oncology issues and much, much more. Because of the variability in presentation and the need for multidisciplinary care, it is essential that the condition be identified and managed comprehensively.
NS is caused by a genetic mutation and is acquired when a child inherits a copy of an affected gene from a parent (dominant inheritance). In many individuals who have NS, the altered gene happens for the first time in them, and neither of the parents has Noonan syndrome (this is called a de novo mutation). Because some cases of NS occur spontaneously, there is no known way to prevent it. NS can be detected with molecular genetic testing.
Management of Noonan syndrome focuses on controlling the disorder’s symptoms and complications.
The signs and symptoms of Noonan Syndrome vary greatly in range and severity from person to person. Characteristics may be related to the specific gene containing the mutation.
Symptoms of Noonan Syndrome
The symptoms of Noonan syndrome may include the following:
A characteristic facial appearance: The Head may appear large with a prominent forehead and a low hairline at the back of the head. Facial features may appear coarse, but appear sharper with age. The face may appear droopy and expressionless. Eyes are wide-set and down-slanting with droopy lids. Irises are pale blue or green. Ears are low-set and rotated backward. The Nose is depressed at the top, with a wide base and bulbous tip. The Mouth has a deep groove between the nose and mouth and wide peaks in the upper lip. The crease that runs from the edge of the nose to the corner of the mouth becomes deeply grooved with age. Teeth may be crooked, the inside roof of the mouth (palate) may be highly arched and the lower jaw may be small. Skin may appear thin and transparent with age.
Approximately 50% – 70% of those with NS have short stature. Feeding issues. Musculoskeletal issues. Breathing issues. Heart defect present at birth (congenital heart defect). A broad or webbed neck. Minor eye problems such as strabismus in up to 95 percent of individuals. Bleeding problems such as a history of abnormal bleeding or bruising. Developmental delay of varying degrees, but usually mild. Genital and kidney conditions. Learning disabilities. Hearing problems. Lymphatic conditions. Skin conditions.
Treatment is based on the individual`s particular symptoms.
Heart problems are followed on a regular basis, and are treated in the same way as they are for those in the general population.
Bleeding problems may have a variety of causes and are treated accordingly.
Growth problems may be treated with growth hormone treatment.
Early intervention programs are used to help with developmental disabilities, when present.
Description: A 12-year-old female with Noonan Syndrome. Typical webbed neck. Double structural curve with rib deformity. By Konstantinos C Soultanis, Alexandros H Payatakes, Vasilios T Chouliaras, Georgios C Mandellos, Nikolaos E Pyrovolou, Fani M Pliarchopoulou and Panayotis N Soucacos – Rare causes of scoliosis and spine deformity: experience and particular features, CC BY 2.0, commons.wikimedia.org
Watch: A Conversation with Dr. Bruce Gelb, Director of the Mindich Child Health and Development Institute at Mt. Sinai Hospital. An expert in Noonan syndrome, Dr. Gelb has studied the genetic origins of this disease to understand its pathogenesis. Noonan and related syndromes result from mutations in several genes that encode proteins that cells use to signal from the outer membrane to the nucleus. Dr. Gelb and colleagues examine whether stem cells generated from cultured skin cells malfunction, leading to developmental disorders, and whether it is possible to coax cellular development to function normally.
*All information in this post is published for general information and educational purposes only. Arms of Mercy NPC and the armsofmercy.org.za website do not offer any diagnosis or treatment, and will not be held liable for any adverse health effects, losses and/or damages whatsoever. Any action you take as a result of the information is at your own risk, and does not replace the advice of a qualified medical practitioner. Always consult with your medical healthcare practitioner.
Miliah is just over 3 years old and has an incredibly rare genetic disorder, 16q11.2q21 duplication – which was discovered only recently after years of tests and doctors’ visits. She struggles through global developmental delay, speech impairment, seizures, a heart defect, self-harming issues, obesity and other ailments.
Miliah has already gone through:
3 MRI’s; ECG Tests; Ph7 Test; Tube feedings; Biopsy; 2 Berium Swallows; 2 Metabolic Tests; 2 Geneticist consultation; Physio since 8 months and needs to continue; Speech therapist, she had every two weeks; Grommets put in; CT Scan; Xrays; Sonars; Scopes done; Occupational therapy; Correctional shoes (for a year – which hasn’t helped, hence why she will now need to undergo surgery).
Miliah was also diagnosed with chronic sinusitis, which means she’s sick most of the time, with chronic reflux and dysmotility.
There is not much information on her chromosome genetic disorder as it is so rare, which causes a lot of uncertainty, even for some Drs.
Miliah needs ongoing therapy (speech, OT, PT), frequent neurological check-ups, testing and medications, Specialists for her stomach and immune system, as well as many others.
She had surgery on the 18th of January 2022 in order to correct her metatarsus adductus to help her jump, run and walk normally. The bones had to be broken and placed correctly, and Miliah is due back in theatre in 3 weeks. Recovery will take longer than expected (around 6 months to a year) and she won’t be able to go to school for the next 5 to 6 months. During these first 3 weeks Miliah will not be able to walk at all and her legs need to stay elevated, either at home in bed, or on the couch, or in a wheelchair when walking around the complex or anything.
Her mommy works part-time to be there for all her go-to therapies, hospital check-ups and specialist visits, but she had to stop all forms of therapy due to financial constraints.
Please open your heart and support our fundraising efforts for Miliah– all proceeds from the “Crown of Hope” and the “Incredibly Precious” bracelets are donated towards her ongoing medical care and expenses. Together we CAN make a positive difference and help a child in need. Together we can change her world!
Alternatively, please consider a donation; any and all donations welcome. REF: Miliah Prinsloo.
Mikyla Pretorius – She epitomizes grit and determination.
Mikyla was unknowingly born with a condition called Acute Hydrocephalus 16 years ago, but has never let this stop her from attending mainstream schooling and achieving good marks in her grades. She is currently a 10th grade student at Goudveld High School in Welkom.
Late last year during the final exams of grade 9, Mikyla told her parents she is experiencing difficulty studying because something was disturbing her vision. After consulting a local optometrist and ophthalmologist, her parents Johan and Claudene decided to consult with Dr. Lynette Venter in Bloemfontein for further testing of the eyes and possible treatment options. Mikyla was diagnosed with Juxtapapillary retinal capillary hemangioma — a rare eye condition. On Dr. Venter’s recommendation, Mikyla also had an MRI scan of her brain where it was discovered by Dr. Dan Hugo that she had Acute Hydrocephalus.
With both these conditions comes a great deal of difficulty in her life, and several operations will be required to get things back to a sense of normalcy. In order for her to have these though, a substantial amount of money will need to be raised, which is where your help is desperately needed.
After the eye condition was first discovered, Dr. Venter recommended that Mikyla receive a series of Avastin injections into both her eyes due to bleeding behind her left eye and the risk in her right eye. Mikyla returned to Dr Venter in March for her check-up and further tests were conducted. However, there was only a slight change in both eyes. Dr Venter recommended further treatment, namely laser treatment followed by eye surgery. She also discovered that there was a certain amount of new bleeding behind the left eye.
Mikyla has to put an enormous amount of effort into completing her school work, often working late into the night and early morning. She is prone to headaches, migraines and nausea and lately is feeling immense pressure in her brain. Both Dr. Venter and Dr. Hugo have been extremely accommodating and they have arranged that if sufficient money can be raised, the laser eye treatment will take place on the 18th of March and the brain operation will take place in late May this year.
In between, Mikyla hopes to continue her education as classes are very important to her. To add to all their woes, Johan lost his job in June 2020 and is working alongside his wife in Web Development from home. In the hope of raising some of the funds, he is arranging a Charity Golf Day with the support of Brand Mashie Golf Course. The date will be advised. All previous costs, in excess of R50,000, have been covered with the help of family, friends, a local church in Odendaalsrus, and by the Grace of God.
For the next two operations, they need to raise a minimum of R220,000 for the operations to take place. If YOU can help with any donation they will be eternally grateful. They have already arranged with an Advocate in Pretoria that if they manage to raise any additional funds, these funds will be used for other young people with the same type of conditions.
Please open you heart and support our fundraising initiative; all proceeds are donated to Mikyla`s ongoing medical care and expenses. Together we can change the world, one bracelet at a time!
Alternatively, please consider a donation; any and all donations welcome. REF: Mikyla Pretorius.
The “See God`s Beauty” Bracelets for Mikyla consist of coloured wooden beads with silver and diamante fillers. Bracelet options: 1) White with Hope charm 2) Dark purple with love charm 3) White, purple & black mix with diamante flower
“Dihandré was born 4 November 2020, a very healthy boy weighing a full 3.2 kg and 52cm. At birth I noticed something strange about Dihandré; his head was weirdly shaped, not round-shaped like a normal baby’s head. His head also had some kind of riff like his skull bones grew over each other, so I asked the nurses at the Hospital and they said that it is normal and it will be the way it is supposed to be when he turns 6 weeks. So I left it there.
On 11 February 2021 we took Dihandré to the Pediatrician in Potchefstroom, who immediately said that it is not normal and we should go for an MRI scan. He was booked for an MRI scan on 18 February. Praying the whole time that the results will come back clean and that nothing is wrong with the little one. Nervousness ate me and my family for the results. We waited patiently. The results came back: Craniosynostosis-scaphocephaly.
Craniosynostosis-scaphocephaly is when a baby’s head fuse in the mother`s womb, meaning there is no fontanel. His brain can’t grow and this means that he can get fog on his brain which can cause brain damage, blindness and worst case scenario death.
Dihandré had surgery where they cut out a part of his skull to make space for his brain to grow and is doing well. He has to wear a helmet for 6 months – 1 year to protect him from bumping his head.”
By supporting our fundraiser for Dihandré you can make a positive difference in his life – all proceeds from the “Sweetest Love” bracelets are donated towards his ongoing medical care and expenses. Together we CAN change the world, and help a child in need!
Alternatively, please consider a donation; any and all donations welcome. REF: Dihandré van Staden.
Fundraising for Dihandré van Staden
Sweetest LoveBracelets
The “Sweetest Love” bracelets for Dihandré consist of wooden beads with crystal, silver and diamante fillers.
“Hi there; my name is Louis Taylor; and this is my story:
I came into this world on 21 November 2014 by Caesarean section at St Georges Hospital in Port Elizabeth. Mom and Dad was elated to meet me. I gave them a huge fright when mere hour after my delivery, I was transferred to the NICU for observation and tests because my doctor was concerned that the tremors, I exhibited, could be seizures. A lot of testing and scanning did not produce any satisfactory answers.
The testing and prodding went on for years amid speculation on Angelman Syndrome, Coffin Siris syndrome, and signs of Autism. The eventual conclusion was that I have a rare, yet unnamed break in my DNA; 6q25.3q26(162291555) x1; to be exact. My folks decided not to pursue further testing that would merely satisfy academic curiosity; but instead focus on helping me reach my full potential.
Together we faced several difficulties starting with the 2 hernias I was born with of which one reoccurred. As a baby I suffered from, and is still prone to severe constipation, I also acquired a very unpleasant reflux reaction to food and drink; to the extent that I was hospitalized for Colonoscopy, Gastroscopy and Barium Swallow; challenging my parents to find foods and drinks suitable for me. I require chronic medication because I am easily excited, prone to Epileptic seizures, and struggle to sleep properly at night.
I am now 7 years old. I have severe developmental delays, I am nonverbal, I still wear diapers, use a sippy cup. need lots of special things like a Special needs School environment, Speech therapy, Occupational therapy, Physiotherapy and Pool therapy; which is why our very dear friend Monique Kitching recommended us to Arms of Mercy NPC for financial assistance.
Thank you for reading my story.”
By supporting our fundraising initiative you can help raise funds for Louis` ongoing medical care and expenses. Together we can change the world, one bracelet at a time!
Alternatively, please consider a donation; any and all donations welcome. REF: Louis Taylor.
Fundraising for Louis Taylor
Eternal Love Bracelets
The “Eternal Love” Bracelets for Louis consist of denim blue wooden beads with silver and diamante fillers.
Williams Syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder that is present at birth. The condition can affect anybody, and is known to occur equally in both females and males, and in every culture. WS causes numerous medical issues including cardiovascular disease, musculoskeletal problems, delays in development, and learning disabilities. These often occur side by side with highly social personalities, striking verbal skills, and a fondness for music.
Williams Syndrome: Extraordinary Gifts, Unique Challenges
May is Williams Syndrome Awareness Month
What Causes Williams Syndrome?
Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome #7. The deletion occurs in either the egg or the sperm used to form the child with Williams syndrome. Accordingly, the deletion is present at the time of conception. It is likely that the elastin gene deletion accounts for many of the physical features of Williams syndrome. Some medical and developmental problems are probably caused by deletions of additional genetic material near the elastin gene on chromosome #7. The extent of these deletions may vary among individuals. – Williams Syndrome Association
Signs and Symptoms of WS
Signs and symptoms of Williams Syndrome can vary, but generally include:
a distinctive facial appearance;
mild to moderate intellectual disability;
a unique personality that combines over-friendliness and high levels of empathy with anxiety.
People with WS typically have difficulty with tasks such as drawing and assembling puzzles. They tend to do well on tasks that involve spoken language, music, and learning by repetition. They also often have very outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common. Learn more
Common Features of WS include:
Characteristic facial appearance
Heart and blood vessel problems
Hypercalcemia (elevated blood calcium levels)
Low birth-weight / slow weight gain
Feeding difficulty (generally limited to the early years)
Irritability (colic during infancy)
Dental abnormalities
Kidney abnormalities
Hernias
Hyperacusis (sensitive hearing)
Musculoskeletal problems
Overly friendly (excessively social) personality
Developmental delay, learning challenges and attention deficit disorder
Treatment Options for Williams syndrome
There is currently no cure for Williams syndrome, and no known way to prevent it.
Treatment is usually based on the individual’s symptoms, and involves easing the symptoms connected to the condition. There is no standard protocol. Management may include:
Feeding therapy for infants with feeding problems
Early intervention programs and special education programs for children with varying degrees of developmental disabilities
Behavioral counseling and/or medications for attention deficit disorder and/or anxiety
Surgery for certain heart abnormalities
Medications or diet modifications for hypercalcemia
Orthodontic appliances or other treatments for malocclusion of teeth
Gonadotropin-releasing hormone agonist for early puberty
*All information/posts on this blog is published for general information and educational purposes only. Arms of Mercy NPC and the armsofmercy.org.za website will not be held liable for any adverse health effects, losses and/or damages whatsoever. Any action you take as a result of the information is at your own risk, and does not replace the advice of a qualified medical practitioner. Always consult with your medical healthcare practitioner.
Grace Shadrach was born on the 13th of June 2012, 34 weeks into the pregnancy as an emergency C-section due to complications. She weighed 4kg at birth and there was no problems or anticipated health concerns in the pregnancy according to the Obstetrician, but after delivery the Paediatrician had come in to discuss Grace`s condition.
Having a baby is such a beautiful experience but nothing prepared mom and dad, Susan and Eugene, for the road ahead..
They were told that her feet were deformed, a type of clubbed foot, and that she also had anal-malformation. That was a lot to handle but as days went on they found more and more problems like Sacral Agenesis – the most painful issue to deal with. Part of her spine was “missing” as it did not develop; she will never ever walk and will be in a wheelchair for the rest of her life.
She had been seen by numerous Specialists who could not do much. She was discharged after a month or so and went through to Durban to see a different Paediatrician. He had noticed that Grace had a problem with her eyesight and after testing found she had bilateral cataracts. She was referred to Specialists who could not do anything and referred her to another Specialist who surgically removed them. She was also referred to another Paediatric Ophthalmologist for glasses that had to be especially made for her overseas.
Susan was told by one of the Drs to make the decision of choosing whether to go back to work or not, and that Grace needed her undivided attention. She decided to resign in order to be there for little Grace. Consequently things are difficult financially because there is now one less salary.
Eventually their money had finished and Medical Aid had to fall away. All of the Specialists did scans and MRIs, blood tests and consultations, but nothing to repair the problems with her feet or bowel problems. Eventually after all the testing they found she had 3 kidneys with persistent bladder infections as well as a micro-colon with chronic constipation or severe diarrhea.
It has been a challenge to say the least. From Febrile convulsions, hospital admissions to high bowel washouts every other day. Grace is 7 going on 8 and still in nappies and that alone is a struggle. She has incontinence and toilet training has not worked so nappies, wetwipes, linen savers, nappy rash creams alone have become a costly affair as well as her Nutritional supplement, Pediasure.
With prayers from her parents, families and friends, Grace has defied Drs reports and started to walk on her own with no help at all – and she has never used a wheelchair. She has such an incredible mind and is so intelligent but what is sad is that there are no schools in Empangeni that are willing to take her because she is still in a nappy.
Any help would be welcomed, especially with her nappies and Pediasure. Surgeries that she still needs would be to repair her feet as well as repairing the anal malformation. She needs to be seen by a Ophthalmologist again to assess if she still needs glasses and ocular lenses.
You can help to raise funds for little Grace`s medical care and expenses by supporting our bracelet initiative. Together we can give her a chance at a better quality life and a brighter future!
Alternatively, please consider a donation; any and all donations welcome. REF: Grace Shadrach.
Deliveries: Please note that items are made by hand and on-order. Delivery may take between 7 and 14 working days after payment has cleared in our bank account. Direct Bank Transfers: Should we not receive payment or POP within 3 days the order will unfortunately be cancelled on our system. Shipping Policy
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