Raising Awareness - Kabuki Syndrome

Today we showed our support for raising awareness for Kabuki Syndrome :

A brief glance at Kabuki Syndrome :

Kabuki Syndrome is a rare, genetic disorder which occurs somewhere between 1 in every 10,000 to 32,000 births.  In 1968 Dr Yoshikazu Kuroki and colleagues examined a boy in Fukuoka in the southern part of Japan, with a unique set of malformations that did not fit into known syndromes. Ten years later another child with similar characteristics was examined in Kanagawa, followed with three others in the ensuing two years.  At the same time in 1967 Dr Norio Niikawa and colleagues discovered a female infant with an unusual set of characteristics that, again, did not fit into known syndromes. They found four other individuals from Hokkaido, an island north of Japan. In 1981 the combined findings of these individuals were presented as a new malformation and the name "Kabuki Make-Up" was selected because of the facial resemblance to the makeup of actors in Kabuki - traditional Japanese theatre. The arched eyebrows, thick eyelashes, eversion of the lateral lower lid and long palpebral fissures all contributed to this resemblance, especially in children of Asian descent. It has also been referred to as Niikawa-Kuroki Syndrome but is now more commonly known as Kabuki Syndrome.

The health issues of Kabuki Syndrome are variable. Many different health issues have been observed among children with Kabuki Syndrome, however, an individual child may have only a sub-set of those issues. Those born with heart malformations, cleft lip/palate or other obviously physical anomalies will be more likely to receive an early diagnosis, while for others this process may take longer.

MEET MICHAEL

Michael Arthur Smit was born four weeks premature on the 4th January 2006, weighing in at just 1.6kg's and with major problems.  Michael had two massive holes in his tiny heart and was in high-risk heart failure. The doctors did everything they could to keep him alive for the next six weeks, at which time Michael underwent open-heart surgery, weighing in at a still-fragile 2.2kg's. After the operation though life seemed to return to normal and other than being very tiny, Michael was doing very well.

However, after Michael's first birthday everything just seemed to start going wrong - he spent most of his time in and out of hospitals, sometimes for weeks at a time, as Michael contracted virus after virus. At this point Michael required regular physiotherapy, medication and feeds. The doctors eventually decided to give Michael a gastrostomy tube in his tummy in the hope that the extra feeds would help him pick up weight. At fifteen months old Michael underwent another surgery for a Nissen Fundoplication to help manage his severe reflux and just one month later yet another surgery to stretch his oesophagus as the Nissen had been done too tight.

When Michael was eighteen months old a geneticist in Holland diagnosed him with Kabuki Syndrome. It came as a big shock to parents, Lizel and Barnard, but did explain why Michael was suffering with so many medical issues. Michael also suffers with common variable immune deficiency which results in his immune system not functioning effectively. To help remedy this, Michael underwent another surgery to insert a Portocath and received his first Polygam (immune treatment)at eighteen months and every three weeks thereafter. Michael now receives Octogam on a four-week cycle.

After extensive physio and occupational therapy Michael learnt to sit by twelve months, crawl by the age of two and walk by the age of three. Side effects of the Kabuki Syndrome include speech impairment, mild cerebral palsy, eating difficulties, poor muscle tone, common variable immune deficiency and cognitive challenges.

Michael will be ten years old soon. He attends the Alta du Toit School for mentally handicapped children, which he loves. Michael loves his friends and laughs all the time. He still needs extensive physiotherapy, occupational therapy and speech therapy now and in the future, to help him cope with all the specific problems.

"Although Michael's life is full of challenges, we take each day as it comes and are very grateful to have him with us. He is funny, full of life and surprises us each day. He loves his food and is very strong-willed."

Sam doing his green bit for raising awareness

 

What would any Awareness Day be without this precious little face

Sienna Kuhnel xxx

20 October is Down Syndrome Awareness Day (SA)

Down syndrome (DS or DNS) or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.^[1] It is typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability.^[2] Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing, or after birth by direct observation and genetic testing. Regular screening for health problems common in Down syndrome is recommended throughout the person's life. Down syndrome is one of the most common chromosome abnormalities in humans,^[3] occurring in about one per 1000 babies born each year.^[2] In 2013 it resulted in 36,000 deaths down from 43,000 deaths in 1990.^[11] It is named after John Langdon Down, the British doctor who fully described the syndrome in 1866.^[12] Some aspects of the condition were described earlier by Jean-Étienne Dominique Esquirol in 1838 and Édouard Séguin in 1844.^[13] The genetic cause of Down syndrome—an extra copy of chromosome 21—was identified by French researchers in 1959.

SIGNS AND SYMPTOMS
Those with Down Syndrome nearly always have physical and intellectual disabilities. They also typically  have poor immune function and generally reach developmental milestones at a later stage. An increased risk of a number of other health problems is usually also present, including congenital heart disease, epilepsy, leukemia, thyroid diseases and mental disorders, among others.

MEET ROSHAN

Roshan was born on the 26^th of May at gestational age of 37.5 weeks, weighing only 2.720kg.

After Roshan was born, he was assessed by a paediatrician and diagnosed with Down Syndrome, confirmed with genetic testing within the following week. At Roshan’s follow up consultation, a heart murmur was detected and we were referred to a Paediatric Cardiologist, who added an additional diagnosis of VSD (a hole in the lower chamber of the heart). To date, no medical intervention has been necessary to treat the VSD and we pray it will remain so.  

As Hypertonia (low muscle tone) is associated with Down Syndrome, Roshan required Physiotherapy and still attends Speech and Occupational therapy at present. He is non-verbal and we are in the process of having him assessed for Speech Apraxia to ascertain whether this might be contributing to Roshan’s not yet communicating verbally, despite his age. Roshan also has sensory issues and doesn’t always adjust to unfamiliar surroundings and people. He also suffers from GDD (Global Developmental Delay).

At seven months old, Roshan became very ill and was rushed to hospital.  After a series of tests and a biopsy it was discovered that he has Hirschsprungs disease, which required a colostomy until the infection subsided in his colon. At 10 months old Roshan had a pull through (follow up) surgery as well as an Orchidopexy.  In most cases, life resumes as normal after these surgeries, but because of Roshan having Down Syndrome as well, this is not the case – Roshan is dependent on the chronic use of laxatives and will be in nappies for many years to come. Because of Roshan’s heart condition, the use of anaesthetic makes every surgery risky.

From the moment I held my precious little boy in my arms I knew he was very special, even before any diagnoses were made. Roshan has brought a new meaning to parenting for me. He is teaching me and all those around him that children with special needs just need to be embraced lovingly by society.

Today Roshan is 3 years old and keeps us busy and on our toes. He loves water, dancing and playing with blocks and balls.  As yet, Roshan does not attend a nursery school as we have not been able to find one which meets both Roshan's personal needs, as well as our financial restraints. We would do anything to keep him happy and healthy, and look forward to being able to sign Roshan up for swimming lessons and equestrian therapy (horseriding therapy) one day in the future." Samantha, Roshan's mommy
 

 

 

AND LITTLE ANJA

"Our journey with Down Syndrome began when Anja was already seven weeks old. As neither scans nor blood tests during my pregnancy indicated any reason to suspect Down Syndrome, the diagnosis was a huge shock! We met with a cardiologist the very next day...I never knew I had so many tears. And they kept coming! Most babies with Down Syndrome are born with heart defects (in addition to a variety of other possible medical issues). Anja had a hole of about 5mm between the arteries which did not require surgery. What relief that news brought, as well as the blessing that she did not suffer from any other serious medical issues.

 

Anja's daddy, Jacques, made peace with the diagnosis from the beginning, saying "Anja is my little girl!" I, however, had to come to terms with it. Anja was being re-born in my eyes, I had to dream new dreams for her...accept the fact that she was even more special and would need me/us much longer than a typical little girl would. Developmental challenges...intellectual challenges...a lot of new "things"...a brand new girl we didn't know yet. We decided to take one step at a time and contacted the Down Syndrome Association of the Western Cape to set up a meeting. Later on we typed up an email to all our family and friends telling them about Anja, that she is our little girl and will be raised in the same way as her brother and that we remain the same people. We also stated that any questions were welcome. We realised immediately that acceptance was going to be the biggest challenge. 

 

Now, more than a year later, we have discovered that we are so lucky to have Anja in our lives. With her ever-present smile, we've learnt about unconditional love and the need to slow down as everything takes longer to master. Sometimes it is hard to see that your little girl is "behind" her friends, sometimes a tear finds its way down my cheek but I wouldn't want it any other way.

The hole in Anja's heart shrunk to approximately 1mm and she started crawling at 16.5 months. We've made many new friends along the way too, learnt about early intervention, physiotherapy, occupational therapy, disabilities, inclusion, genetics and much much more. Some days have been really hard but in so many ways Anja is the best thing that could have come our way - she and her brother fill our hearts and lives!

 

In November 2014 I began my "21 Cookies of Hope" project in support of Anja and our hopes for her and to raise awareness."    Mariaan, Anja's mommy

 

 

 

Little Sienna showing support for her DFF Family xxx

 

Raising Awareness - World Cerebral Palsy Day 07.10.2015

Cerebral Palsy (pronounced seh-ree-brel pawl-zee) is a blanket term commonly referred to as “CP” and described by loss or impairment of motor function caused by brain injury or abnormal development of the brain that occurs while a child’s brain is still developing — before birth, during birth, or immediately after birth.  Cerebral palsy affects body movement, muscle control, muscle coordination, muscle tone, reflex, posture and balance. It can also impact fine motor skills, gross motor skills and oral motor functioning.

 

An individual with cerebral palsy will likely show signs of physical impairment. However, the type of movement dysfunction, the location and number of limbs involved, as well as the extent of impairment, will vary from one individual to another. It can affect arms, legs, and even the face; it can affect one limb, several, or all. Cerebral palsy affects muscles and a person’s ability to control them. Muscles can contract too much, too little, or all at the same time. Limbs can be stiff and forced into painful, awkward positions. Fluctuating muscle contractions can make limbs tremble, shake, or writhe. Balance, posture, and coordination can also be affected by cerebral palsy. Tasks such as walking, sitting, or tying shoes may be difficult for some, while others might have difficulty grasping objects. Other complications, such as intellectual impairment, seizures, and vision or hearing impairment also commonly accompany cerebral palsy.

Every case of cerebral palsy is unique to the individual!

One person may have total paralysis and require constant care, while another with partial paralysis might have slight movement tremors but require little assistance. This is due in part by the type of injury and the timing of the injury to the developing brain.

Cerebral Palsy is...

• non-life threatening
• incurable
• non-progressive
• permanent
• not contagious
• manageable
• chronic 

As the Daniel and Friends Fund has many CP Heroes in our family, we were out in full force raising awareness and showing support xxx