Support newborn screening for Severe Combined Immune Deficiency (SCID)

Read the IDFA SCID Newborn Screening Position Statement.

SCID -Harrison’s Story We have been contacted by this beautiful family to share their story of loss and sadness because of Severe Combined Immune Deficiency. By sharing this real life story we hope to raise more awareness and understanding around why we are trying to support and initiate Newborn Screening tests for SCID in Australia. Please feel free to share this on your Facebook page to help others understand what we are trying to achieve. Thank you.

Harrison

Harrison

Severe Combined Immunodeficiency Disease (SCID) is a life-threatening condition which is present from birth. If undetected or unsuccessfully treated, SCID is fatal in 100% of cases, usually before a baby’s first birthday. I wasn’t aware of this condition until the loss of my beautiful nephew Harrison in 2010. Harrison’s mother, my sister Bianca has bravely shared his story:

“Harrison was a happy, healthy little baby who loved his milk and gave out smiles to everyone that smiled at him. He had been born seven weeks premature, but was very strong and thrived as any healthy full term baby would.

At four and a half months of age, Harrison became sick with a cold. A couple of trips to the doctor resulted in antibiotics to clear a suspected infection. For a few days Harrison’s condition began to improve, then suddenly he deteriorated and was admitted into North Shore Hospital (in Sydney, Australia) with pneumonia and hepatitis.

Harrison’s condition continued to deteriorate, and two days later he was transferred to Intensive Care where upon arrival he had a massive lung haemorrhage and stopped breathing. He was placed on a ventilator and our family were told that due to the extensive damage to multiple organs caused by the infections, we had to say goodbye to our darling baby. Only two weeks after being admitted to Hospital, and only two days shy of being 6 months old, little Harrison died.

The grief from this loss is heartbreaking, particularly in such preventable circumstances. We have to live with the knowledge that a Newborn Screening test could have detected Harrison’s condition at birth and allowed him to access treatment that could have saved his life”.

PLEASE SIGN THE LETTER OF SUPPORT and SHARE THIS POST asking for the inclusion of SCID in Newborn Screening programs in Australia.  http://www.idfa.org.au/support-newborn-screening-for-sever…/

Please get on board so we can do better for our Australian babies and their families.

Read the European NBS White Paper by Professor Bobby Gaspar.

SHARE this post in honour of Harrison, to raise awareness of SCID and most importantly – to get as many people as possible to sign the Letter of Support for SCID Newborn Screening in Australia.

  DONATE to this campaign. We are aiming to raise $1,000,000 to support the SCID research and pilot study currently being undertaken at the Children’s Hospital Westmead, and advocate for SCID newborn screening to be added to the Guthrie heel prick test given at birth to all babies. This will ensure early diagnosis and life saving treatment for SCID affected babies.

Donate by credit card via our secure Westpac site. Use  “SCID Donation” as the Reference.

SIGN the letter of support for our advocacy campaign to the Federal government to add newborn screening for SCID to the Guthrie test, done at birth to all babies.

Name:
E-mail: *
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Statement of support:

Want to know more?  More commonly known as the disease of the “Bubble Boy”, SCID is the result of a genetic condition which sees sufferers born with an undeveloped immune system. Babies with SCID are left defenseless against the broad spectrum of viruses, fungi and bacteria that would be virtually harmless to people with normal immunity. Many babies with SCID have no family history of the condition.

EVERY child with SCID will die unless the condition is successfully treated; successful treatment depends on early detection. Given that babies with SCID appear healthy at birth due to a brief window of coverage from their mother’s antibodies (as well as the common delay in diagnosis) many children succumb to infection before treatment can be provided. Newborn screening provides an opportunity to detect SCID early in a baby’s life while the child still has protective antibodies and prior to irreversible, major exposure to infections.
As babies with SCID usually present with common pediatric conditions requiring diagnostic workup, Newborn Screening for SCID would ensure treatment is initiated earlier, minimising risk of exposure as well as limiting unnecessary and invasive testing.

Medical developments mean it is possible to effectively treat SCID, which may provide the sufferer with the opportunity to lead a full life. A Bone Marrow Transplant (BMT) has the potential to provide positive long-term outcomes. If early diagnosis is achieved, BMT within the first 3.5 months of life results in a 95% survival rate! Positive outcomes however are dependent on early detection and successful uptake of treatment before babies are harmed and overcome by opportunistic infections. Hence, the imperative for Newborn Screening.

David Vetter the 'bubble boy"

David Vetter the ‘bubble boy”

SCID is a fatal primary immunodeficiency in which there is combined absence of T-lymphocyte and B-lymphocyte function. There are at least 13 different genetic defects that can cause SCID. These defects lead to extreme susceptibility to very serious infections.

Severe Combined Immunodeficiency (SCID) is a paediatric emergency that meets all the criteria to be included in the national newborn screening programmes.

Children born with SCID lack a working immune system. They are only partially protected from infection in the first few weeks of life thanks to maternal antibodies. Once these antibodies disappear from the child’s system, the child is prone to severe infections that threaten survival or seriously compromise the child’s health beyond the first year of life.

Fortunately, effective treatments, such as stem cell transplantation and gene therapy can cure the disorder, however, the key is early detection. This can make possible life-saving intervention before infections occur. All types of Primary Immune deficiencies, not just SCID, would benefit from early diagnosis as research advances.

Newborn screening for SCID will prevent infant deaths from undiagnosed SCID and also enable the potential diagnosis of other primary immune deficiencies. SCID Newborn screening is being done in other parts of the world, including New Zealand. In the USA, only 6 States are not screening for SCID or have not implemented a newborn screening pilot programme (see map). In Canada – Ontario and Nova Scotia. Other countries include Spain, Israel, Qatar, Sweden (Stockholm), Singapore (with payment) and Taiwan (with payment).

Pilot studies are being done in France, Germany, Norway, Iran, Italy, Japan, Norway, Saudi Arabia, Slovenia and ThailandIDFA SCID Newborn Screening Position StatementIDFA SCID Newborn Screening Position Statement (information from IPOPI).

Babies and young children are still dying in Australia from SCID. If diagnosed and their bone marrow transplanted within the first 3 months of life, a child has a 95% chance at survival.

FOR MEDICAL PROFESSIONALS

Early recognition of primary immunodeficiency (PID) is vital as early referral to a specialist improves management of disease. A new e-training course for health professionals has been released by ASCIA that aims to increase awareness of PID amongst general practitioners, paediatricians and general physicians.

www.allergy.org.au/health-professionals/health-professionals-e-training

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