The patient journey | SATB2-associated syndrome (SAS)

06/16/23 • 21 min

Erika Stariha is the mother of the first child in Slovenia diagnosed with SATB2-associated syndrome (SAS), as well as the founder and president of SATB2-Europe.
SATB2 Europe's aim is:
“To improve quality of life for individuals with SATB2 syndrome through discovery and development of targeted treatments and enhanced availability of appropriate care”.
SATB-2 associated (also known as chromosome 2q32-q33 deletion syndrome or Glass syndrome) is a rare genetic syndrome caused by mutations in the SATB-2 gene leading to developmental delays, intellectual disability, and speech and language difficulties.
The main symptoms can be remembered using the acronym S.A.T.B.2 :

S = Severe speech anomalies
A = Abnormalities of the palate
T = Teeth anomalies
B = Behavioral issues with or without Bone or Brain anomalies

In this podcast, Amanda Hansson Hedblom, Senior Associate at FIECON, talks to Erika Stariha about the patient journey and her experiences as both a parent of a child with SAS and as a patient advocacy leader.

S = Severe speech anomalies
A = Abnormalities of the palate
T = Teeth anomalies
B = Behavioral issues with or without Bone or Brain anomalies

Previous Episode

The patient journey | Acanthamoeba keratitis

Juliette Vila Sinclair-Spence is a passionate Acanthamoeba keratitis (AK) Warrior and Rare Disease Patient Advocate as well as the Founder and Chairwoman of Acanthamoeba keratitis (AK) Eye Foundation. With her patient voice, she brings personal and first-hand experience of what it means to be affected by Acanthamoeba keratitis as well as its aftermath.

Her goal is to raise awareness about the rare disease Acanthamoeba keratitis by educating contact lens users (Contact lens and water don’t mix!), eye professionals to stop misdiagnosing Acanthamoeba keratitis, understand the impact the disease has, providing the right medical treatment (refer to an expert), support like pain management (excruciating pain) as well as mental support (depression) and encourage all contact lens manufacturers that a “No water" label on all packaging would help the goal.
In this podcast, Guy Lacey, Manager at FIECON, talks to Juliette about her patient journey since she contracted Acanthamoeba keratitis in 2016 and shares the details of her long and arduous journey to diagnosis and finally treatment. She has devoted much of her time to help others learn more about this disease and has became an advocate for patients, families and providers by creating the Acanthamoeba Keratitis (AK) Eye Foundation.

Acanthamoeba keratitis is a rare but often devastating ocular condition that can lead to severe vision impairment, corneal transplantation, and even enucleation. It is caused by a free living amoeba that is typically found in soil and water, including tap water.

The main risk factor for AK is contact lens wear. AK presents initially with a high degree of pain, often out of proportion to the clinical signs observed. Many times, this condition is misdiagnosed as herpes simplex keratitis.
Our innate immune response can fight the infection, but once the amoebas have breached the corneal epithelium, it is difficult for the immune system to fight these parasites due to the fact the cornea is an immune-privileged tissue. Cysts can remain in a dormant state on corneal tissue for close to 3 years making recurrent infection possible.

Next Episode

The patient journey | FOP (Fibrodysplasia Ossificans Progressiva ), Lexi's story

In this podcast, David Robins talks to Lauren Weinberg, Senior Associate at FIECON, about the patient journey, his experience as the father of Lexi who lives with Fibrodysplasia Ossificans Progressiva (FOP), and as a family after the FOP diagnosis.

FOP is an ultra-rare genetic condition and is one of the most debilitating conditions known to medicine. FOP causes the soft connective tissue of the body to turn into new bone. When that occurs over or near joints, or within a muscle, it restricts the person’s movements. This new bone, or ossification, can mean that the sufferer is eventually no longer able to move the joint. Once movement has been lost in a part of the body, it is not possible to remove the new bone as that can aggravate the FOP and trigger further bone growth.
FOP is characterised by congenital malformations of the big toes and progressive heterotopic ossification (HO) in specific anatomic patterns. FOP is the most catastrophic disorder of HO in humans. Flare-ups are episodic; immobility is cumulative. A common mutation in activin receptor IA (ACVR1), a bone morphogenetic protein (BMP) type I receptor, exists in all sporadic and familial cases with a classic presentation of FOP.

There is currently no treatment for FOP so investigating all avenues of research and finding more FOP doctors, who are willing to be educated about FOP, is essential.