My heart breaks when I see photos of children suffering from genetic disorders, such as the nine babies from this story. But this story also lauds to the use of genetically modified organisms for producing drugs for treatment.

Recently, scientists discovered a new genetic disorder in nine newborn to 2-week old babies. The infants had swollen bone tissues, bone pain and deformity, and rashes that can range in size from small fluid-filled blisters or pustules to blisters that covered the whole body.

The researchers immediately realized they were looking at an unrecognized auto-inflammatory syndrome, where recurring episodes of inflammation occur without any pathogens or immune cells triggering the reaction. All nine babies had mutations of IL1RN, a gene involved in the immune response which encodes the interleukin-1–receptor antagonist. Deficiency in the antagonist protein results in a rare disease called DIRA (deficiency of the interleukin-1 receptor antagonist). The disease presents itself at birth up to two-weeks old  so you can imagine the agony these babies go through.

The children came from six families from Newfoundland, the Netherlands, Lebanon, and Puerto Rico. Their parents were heterozygous carriers and the children were homozygous for the mutations affecting IL1RN. The good news about DIRA is that it is treatable using the rheumatoid arthritis drug anakinra (Kineret). Anakinra is a synthetic or recombinant interleukin-1 (IL-1) receptor antagonist prepared from genetically modified E. coli using recombinant DNA technology.

Six children responded rapidly to the treatment but they had to be on the drug all the time to prevent relapse. One patient – the child from Puerto Rico – had mutations in other genes so his treatment was complicated, and two others had died prior to the study.

The study appears in the June 4 issue of the New England Journal of Medicine.

Bethany Jordan may look just like any young girl, except she has an extraordinary story to tell, and she is only six years old.

Bethany was born with a heart that faces her back, two left lungs, a diseased and backwards liver, a stomach on the wrong side and five spleens. So unusual was her anatomy that doctors said her insides looked like a jigsaw, and soon Bethany was nicknamed the “Jigsaw Kid”.

Bethany Jordan has an extremely rare genetic disorder called Ivemark Syndrome that is characterized by misplaced or mis-oriented organs, a poorly-formed cardiovascular system and an absent (asplenia) or multiple number of (polysplenia) spleens. Doctors diagnosed her condition through routine pregnancy scans and thought she would never survive birth. But her brain function was normal and her mother carried her to term. Since then, Bethany has survived life-saving surgeries on her liver, lungs and heart, but she’s still waiting for a liver transplant.

Ivemark Syndrome is only one of many forms of “asplenia”, or absence of a normal spleen function, but it is such a rare congenital medical condition that very little is known about its cause.

Read more of Bethany’s story at the Telegraph.

The Ivemark Syndrome Association helps patients and families who are affected by this rare syndrome. Contact them at the information below:

Ivemark Syndrome Association

18 French Road
Poole
Dorset
BH17 7HB
Tel: 01202 699824

Images: Zuma Press

I first learned of this rare recessive disorder mucopolysaccharidosis VI, or MPS VI from the story of 3-year old boy Trey Lane, who suffers from it.

Mucopolysaccharidosis VI, or MPS VI is a rare unpredictable disorder resulting from a deficiency of arylsulfatase B, thus preventing the degradation of polysaccharides. The excessive amounts of polysaccharides in the affected person’s body compresses soft tissues and bones and hinders proper growth of the bones. Most affected individuals have short stature, deformed facial structures, stiff joints, and corneal clouding.

Featured in the Arizona Central, Trey’s story captured media attention when his doctors told him that his $20,000-per-week treatment didn’t seem to be working (in delaying the progression of the disease). Trey hasn’t grown an inch or gained a pound in months. Trey soon met a 20-year old man who has been suffering from the same disorder and the two families found mutual support. Later, word got out about the young boy’s struggles and schools and other children began donating to his treatment. Next month, Trey will go back to Minnesota and try another round of treatments. The Arizona Central article didn’t mention the specific treatments for Trey, but a clinical trial for an enzyme replacement therapy using recombinant human arylsulfatase B (rhASB) recently found success.