rare disease Archives - Arms of Mercy NPC

Posted on 26/05/202626/05/2026 by AOM

Update Miliah Prinsloo: Urgent Medical Care and Specialist Support Needed

Living with a rare genetic chromosome disorder, 16q11.2q21 Duplication

Imagine a condition so rare that fewer than ten people worldwide have it. This is Miliah’s reality. Her rare chromosome disorder is largely unchartered territory, leaving local medical professionals with very little data or guidance to help her. Finding answers and funding the specialised care she needs is a constant, uphill battle.

Miliah, is facing a complex and challenging health journey. Her diagnoses include global developmental delay, speech impairment, neurological and behavioural difficulties, self harm tendencies, absent seizures, and hypermobility with an ankle valgus deformity. Physically, she also copes with lordosis, incontinence, irritable bowel syndrome, fatty liver disease, and severe inflammation throughout her entire digestive system, from her oesophagus to her colon.

To thrive, Miliah needs ongoing Specialist care, constant therapy, daily medications, and nappies. The financial reality of these medical costs is overwhelming.

It has been shared with us by Miliah’s mother that, following specialist intervention, a psychiatric admission has been recommended for Miliah, with the process needing to begin as soon as possible due to the seriousness of her current condition.

This has understandably been an incredibly distressing time for the family. One of the greatest concerns is the initial 72-hour observation period, during which parents may not be permitted to remain with their child, a heartbreaking prospect for any parent facing such circumstances.

Miliah has been experiencing severe emotional dysregulation and an escalation in self-harming behaviours, which have significantly impacted both her home and school life.

Her family is navigating an immensely challenging season, emotionally and financially, as urgent medical care and specialist support become necessary.

WAYS THAT YOU CAN HELP MILIAH

Should you feel moved to support Miliah’s journey, any contribution, no matter how big or small, would be deeply appreciated in helping ease the growing burden of medical expenses during this difficult time.

Please keep Miliah and her family in your thoughts and prayers.

DONATIONS
Account Holder: Arms of Mercy NPC
Bank: Standard Bank
Account Type: Cheque Account
Account Number: 10114699702
Branch Code: 051001
Swift Code: SBZA ZA JJ
REF: MILIAH

SUPPORT OUR BRACELET FUNDRAISER PROJECT
Browse our “nominate beneficiary” category in the online store. You can nominate Miliah when buying any of the bracelets in this selection and we’ll allocate all proceeds to her Fund, to help cover her ongoing medical care and expenses where needed. Click here.

MILIAH’S BACKABUDDY CAMPAIGN
Click here to support her current campaign on BackaBuddy.

There are illnesses no one talks about. Diseases many people have never even heard of.

Behind closed doors, families are fighting daily battles — surgeries, hospital visits, pain, fear, and exhaustion — while the world stays silent.

Rare diseases deserve awareness.
Patients deserve understanding.
Caregivers deserve support.
Children deserve to be seen.

We need more voices. More education. More compassion. More research.

Because “rare” should never mean invisible.

Source: Facebook – Miliah’s Journey – 16q11.2q21 dup

Posted on 15/04/202615/04/2026 by AOM

Supporting CJ’s Journey with Rare Genetic Challenges

CJ Matthee is a seventeen-year-old young man from Kathu; a kind, gentle soul with a smile that brightens any room.

CJ was born with Menke-Hennekam Syndrome (MKHK), a rare genetic condition that impacts various aspects of his development. He is also on the autism spectrum, which adds specific challenges but further defines the sweet, unique character his family loves so deeply.

Over the years, his condition has affected his development and feeding, as well as his muscles and legs. Living with chronic pain and weakness, CJ finds walking and standing particularly difficult. On many days, even simple movements lead to discomfort and exhaustion. Despite these hurdles, he maintains a quiet strength and never gives up.

CJ was also diagnosed with Gastroparesis, a condition where the stomach empties slowly due to nerve and muscle damage. As he cannot eat or digest food normally, he relies on a GJ feeding button to receive nutrition and medication directly into his intestines.

Although this intervention has provided immense support, it requires continuous care, medical supplies, and hospital visits that take a significant emotional and financial toll.

Overseeing his pain management, leg physiotherapy, and specialist consultations demands a steadfast commitment of both time and resources.

CJ faces more in a single day than many encounter in a lifetime, yet there is so much more to him than his medical condition; he is a funny, caring, and remarkably brave individual. He finds his greatest happiness in music, quiet cuddles, and being surrounded by those who provide him with a sense of safety.

The family wishes to express their deepest gratitude to everyone who has read his story and chosen to support him. Your kindness brings a sense of hope and renewed strength to CJ’s life every single day.

Medical Fundraiser – How You Can Help

If CJ’s story has touched your heart, please consider making a donation today. Every donation, no matter the size, will directly support his healing journey.

We have also launched a heartfelt bracelet project to help raise funds for his ongoing medical expenses. Purchase a bracelet today and join CJ’s circle of hope and support!

Make a Donation
Account Holder: Arms of Mercy NPC
Bank: Standard Bank
Account Type: Cheque Account
Account Number: 10114699702
Branch Code: 051001
Swift Code: SBZA ZA JJ
REF: CJ MATTHEE

Alternatively, make a donation online with Payfast.

Shop “Faith is my Armour Bracelets for CJ”

Posted on 18/03/202618/03/2026 by AOM

A Lifeline for Liana van Niekerk: A Small Warrior’s Big Journey

Liana van Niekerk Arms of Mercy Fundraising

Born on 19 January 2026, baby Liana entered the world already fighting for her life. Though she is small, her courage is extraordinary, carrying a strength far beyond her size.

Liana van Niekerk was born with an Encephalocele, a rare and serious condition in which brain tissue develops outside the skull. In addition to this, she bravely manages Hydrocephalus, Colpocephaly, and Chiari Malformation Type 3. Each diagnosis presents its own unique hurdles, making her journey incredibly complex; yet, through every trial, Liana continues to demonstrate remarkable resilience.

On the 31st of March 2026, this little baby girl will undergo her first major surgery, a pivotal step that could shape her future. It marks the start of an arduous and uncertain journey involving specialised treatments, continuous care, and significant emotional and financial pressure on her family. While Liana’s parents have medical aid, the reality is that her complex surgical requirements and long-term neurological needs far surpass their existing cover. The weight of the responsibility they now carry is immense.

This is where the power of community becomes so important.

Liana’s story is not just one of hardship, it is a call for compassion, for unity, and for people to come together to give this precious life a chance.

How You Can Help

Please keep Liana in your thoughts as she prepares for her upcoming surgery.
Together, we have the ability to stand in the gap for this beautiful little girl, to give her hope, to give her strength, and to give her a fighting chance at life.

If Liana’s story has touched your heart, please consider making a donation today. Every donation, no matter the size, will directly support her healing journey.

We have also launched a heartfelt bracelet project to help raise funds for her ongoing medical expenses. Purchase a bracelet today and join her circle of support!

Make a Donation
Account Holder: Arms of Mercy NPC
Bank: Standard Bank
Account Type: Cheque Account
Account Number: 10114699702
Branch Code: 051001
Swift Code: SBZA ZA JJ
REF: LIANA VAN NIEKERK

Alternatively, make a donation online with Payfast.

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Posted on 26/09/202528/11/2025 by AOM

An Urgent Plea for Little Jordan: Facing Two Life-Altering Diagnoses

Jordan (4 y/o) is a beloved foster child who has been with his primary caregiver since he was a baby of six and a half months. Throughout his young life, Jordan has been plagued by illness, leading to more than 14 hospitalizations for issues concerning his lungs and stomach. His foster family has always known that something was seriously wrong, and earlier this year, their fears were confirmed with not one, but two life-altering diagnoses.

In March, the family learned Jordan has Arnold Chiari Malformation, a condition where brain tissue extends into the spinal canal. Then, in June, they received the devastating news that he also has Cystic Fibrosis (CF). This is a lot for any family to process, especially as they navigated a regimen of extensive medication and preparation for Jordan to undergo his first major surgery – a crucial brain operation on the 12th of September 2025.

The Overwhelming Cost of Care

While Jordan is surrounded by a caring foster/adopting family, the financial burden of his ongoing medical needs is overwhelming. His foster parent does have medical aid, but it does not cover all the bills, and the family’s savings are completely depleted.

They are currently blessed to receive some necessary medications, like Creon, from the Johannesburg Clinic, but the most critical financial hurdle is the cost of medication for his Cystic Fibrosis. The life-saving drug Trikafta, cost R33,333 per month, which is not covered as a chronic medication by medical aid. This is simply unattainable.

As it stands, the foster parent pays all doctors’ bills and other incidental costs in cash, highlighting the family’s current struggle to provide everything Jordan needs.

How You Can Help

Little Jordan is a lovely boy whose family is taking excellent care of him, but they cannot do this alone. They need immediate financial assistance to cover the soaring costs of his medications, treatment, and long-term care.

If Jordan’s story has touched your heart, please consider making a donation today. Every donation, no matter the size, will directly support his fight against these two serious conditions, offering him the chance for a healthier, more stable future. Each contribution moves this loving family closer to securing the funds needed for his life-saving medication.

We have also launched a heartfelt bracelet project to help raise funds for his ongoing medical expenses to further support his journey.

Make a Donation
Account Holder: Arms of Mercy NPC
Bank: Standard Bank
Account Type: Cheque Account
Account Number: 10114699702
Branch Code: 051001
Swift Code: SBZA ZA JJ
REF: JORDAN

Alternatively, make a donation online with Payfast.

Hope for Jordan Charm Bracelet Arms of Mercy NPC — **Shop Hope for Jordan Charm Bracelet**

Posted on 26/08/202526/08/2025 by AOM

The Power of Community: Supporting Amy Klopper’s Aplastic Anemia Battle

fundraiser amy klopper arms of mercy npc

Amy Klopper, a resilient four-year-old girl, was diagnosed with Severe Aplastic Anemia in early January 2025 at Donald Gordon Hospital. Her treatment is overseen by Dr. Nandipha Sigedle. This rare and serious condition has required Amy to undergo frequent blood and platelet transfusions, as well as regular bone marrow biopsies. Her ongoing treatment includes Eltrombopag (Revolade), a costly medication that stimulates her bone marrow, along with Cyclosporine, Anviro antibiotics, and Bactrim twice a week.

The family’s life has been a whirlwind of hospital visits, emergency admissions, and specialist consultations, often on short notice.

Thanks to an outpouring of support from their community, the family was able to upgrade Amy’s medical aid to the Momentum incentive option, which now helps cover the cost of Revolade. However, their medical savings are completely depleted. The family continues to face significant financial strain, as all other expenses—including additional medications, transport, and specialist visits—are paid for out-of-pocket. Amy sees her doctor every two weeks for blood and platelet transfusions, depending on the results of her blood tests. She has also received ATG (anti-thymocyte globulin) treatment, which is slowly helping her show signs of improvement.

How You Can Help

Despite this progress, Amy’s recovery is still delicate and requires active management. The family is grateful for every small victory but recognises that their journey is far from over. They are actively fundraising and managing Amy’s care while trying to hold their family together. They have reached out to Arms of Mercy to partner with them to help carry the financial burden of Amy’s continued treatment and recovery. A stem cell donor is currently on standby should her condition take a turn for the worse.

If Amy’s story has touched your heart, please consider making a donation today to help the family and ensure she receives the continuous care she needs to fight this rare, life-threatening condition. Every donation, no matter the size, directly contributes to Amy’s ability to continue her fight. We have also launched a heartfelt bracelet project to help raise funds for her ongoing medical expenses to further support her journey.

Make a Donation
Account Holder: Arms of Mercy NPC
Bank: Standard Bank
Account Type: Cheque Account
Account Number: 10114699702
Branch Code: 051001
Swift Code: SBZA ZA JJ
REF: AMY KLOPPER

Alternatively, make a donation online with Payfast.

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Posted on 01/05/202509/06/2025 by AOM

Be Elliatt’s Hero: Help Cover the Costs of His Crucial Medical Care

Elliatt Strauss( 2 years old) has a rare genetic condition called Diamond-Blackfan Anemia (DBA). This disorder affects his bone marrow, which means his body cannot produce enough red blood cells. Because of this, Elliatt has needed blood transfusions every three weeks since he was only one month old. He has already had more than 8 operations and has received over 30 bags of blood. He has been in the hospital for 8 months now, currently staying at Rondebosch Medical Centre in Cape Town.

Brave little Elliatt is currently fighting a tough battle while on the GEMS Ruby medical aid plan. While this coverage helps with many of his medical needs, the reality is that several co-payments and frustrating shortfalls leave his parents facing significant out-of-pocket expenses.

Every three weeks, Elliatt needs vital blood transfusions to keep him stable and strong. These transfusions, while life-saving, have led to high iron levels in his little body. To combat this, he is on very costly iron-chelating medication. When the day arrives that his iron levels stabilize enough, he wil undergo a bone marrow transplant which is the next crucial step on his journey to recovery.

Elliatt also needs therapies like physiotherapy, and potentially others, to help him regain strength after his long hospital stay. Sadly, these have had to be put on hold while he focuses on getting stronger.

As you can imagine, the mounting medical bills are a heavy burden on the family, on top of the emotional and physical toll of Elliatt’s illness. We are reaching out with hopeful hearts, asking for your support in helping us cover these essential medical costs. Every contribution, no matter how small, will make a tangible difference in Elliatt’s life, bringing him closer to the day he can receive his bone marrow transplant and begin his journey towards a healthier future.

We believe in the strength and compassion of our Arms of Mercy community. If Elliatt’s story has touched your heart, please consider making a donation using the banking details below. We have also launched a heartfelt bracelet project to help raise funds for his ongoing medical expenses to further support his journey. Thank you for considering standing alongside Elliatt in his fight. Please keep him and his family in your thoughts and prayers.

Make a Donation

Account Holder: Arms of Mercy NPC
Bank: Standard Bank
Account Type: Cheque Account
Account Number: 10114699702
Branch Code: 051001
Swift Code: SBZA ZA JJ
REF: Elliatt Strauss

Donate online with Payfast

Miracle for Elliatt Bracelets - Arms of Mercy NPC

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Posted on 11/05/202223/02/2023 by AOM

May is Prader-Willi Syndrome Awareness Month

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.

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!

Prader-Willi Syndrome Awareness Bracelet – Shop Online

Sources: rarediseases.org, fpwr.org, pwsavic.org.au, webmd.com, wikipedia.org.

*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.

Posted on 03/05/202203/05/2022 by AOM

What is Cystic Fibrosis?

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.

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 on 25 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.

Sources: www.cff.org, rarediseases.org, wikipedia.org, theconversation.com, sacfa.org.za.

Posted on 31/03/202205/04/2022 by AOM

What is Mowat-Wilson Syndrome?

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

Mowat-Wilson Syndrome Awareness Bracelet © Arms of Mercy NPC — Mowat-Wilson Syndrome Awareness Bracelet

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Sources: rarediseases.org, mowat-wilson.org , medlineplus.gov, wikipedia.org.

Posted on 09/02/202209/02/2022 by AOM

23 February – Noonan Syndrome Awareness Day

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 Awareness Bracelets © Arms of Mercy NPC — Noonan Syndrome Awareness Bracelets

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What is Noonan Syndrome?

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.

Learn more about symptoms, causes, complications.

Treatment

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.

Sources: teamnoonan.org , rarediseases.org , mayoclinic.org , genome.gov.

Posted on 20/05/202026/10/2020 by AOM

Williams Syndrome: Causes, Symptoms, Common Features and Treatment

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
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Regular cardiovascular checkups are necessary to monitor and track any potential problems.

Narrowed blood vessels can be treated if they cause symptoms, physical therapy and speech therapy can also be beneficial.

Medical conditions can affect the lifespan of those with Williams syndrome.

Visit the sources below for more in-depth information.

Sources: healthline.com, williams-syndrome.org, rarediseases.info.nih.gov

Fundraising for Logan Clarke – Pierre Robin Syndrome, Williams Syndrome

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