Help Jess and Rumi keep fighting

Hi, my name is Sara and I'm Jessica Stein's cousin.

This campaign is to try to help ease the financial pressures on top of what Jess and her 6 year old daughter Rumi are currently facing medically. Any donation will go towards medical and living expenses.

Jess and Rumi are both suffering from multiple complications of a connective tissue disorder they both share. Connective tissue disorders are a heritable condition, that cause faulty connective tissue throughout the entire body. This includes hypermobile and unstable joints, as well as fragile tissue that means that their organs and vessels are more vulnerable to damage. Their family shares features of Ehlers Danlos Syndrome, Marfan Syndrome and Brittle bone.

After years of trying and failing to navigate the complex and rigid health care system, they are having to turn to the community to help find them appropriate health care. They both have complex conditions and present with atypical symptoms that the system seem unable and unwilling to manage. If you have any information about medical professionals that have experience or are interested in the medical issues outlined below please send through their contact details to Jess's email address.

Rumi

Rumi has craniocervical instability, atlantoaxial instability, basilar invagination, tethered spinal cord, chiari malformation and brain stem compression. This means that there is too much movement between her skull and the top of her spine, compressing vital nerves, vessels and her brain stem. This causes her to have severe autonomic dysfunction which impacts her breathing rate and oxygen saturation, heart rate, temperature regulation, inability to safely swallow and gastroparesis. She currently has periods where she struggles to walk and hold her head up, vacant episodes and pain.

These diagnoses did not come easily as there are very few experts globally in craniocervical instability, especially for children. Rumi is at the more severe end of the spectrum, and will require a craniocervial fusion at some point, which screws the skull to the top of the spine. This surgery is a last resort option and ideally not done until at least the teenage years when growth has slowed down.

Rumi is having spinal surgery this week, with the hope that it relieves some of the symptoms without making things worse, but it is always high risk to do any surgery on her not knowing how her body will respond.

Jess

Jess has suffered gaslighting by the health system for many years while trying to advocate for Rumi. She was repeatedly told that the symptoms she was explaining were ‘phsyiologically impossible to survive’ and that "she wanted to have a sick child in hospital".

Unfortunately, while living in hospital with Rumi in 2019 Jess started to experiece light sensitivity and migraines for which she sought help. Things worsened and became acute following a lumbar puncture in which she blacked out. She woke up to severe tearing chest pain, visualised full body circulation changes, leg weakness, numbness and often different blood pressures in each arm. This initial treatment was severely mismanaged by the neurologist, who failed to rule out an aortic dissection with a CT which was recommended by a fellow doctor due to her genetic predisposition. She was discharged with ‘conversion disorder and anxiety’ and the neurologist saying that she was simply unable to cope with having a sick child. It is from this point that things continued to get worse.

Prior to the lumbar puncture Jess was still under enormous stress caring and advocating for Rumi, but she was still able to maintain daily life and activities, even swimming laps at Bronte and participating in a 5km charity walk raising funds for Ronald McDonald House.

Jess has continued to get worse over time, and has become incapacitated at home. She knows that the injury could have, and should have killed her. Each time she was sent to hospital with acute and visible symptoms, medical professionals continued to say it was conversion disorder. Jess’ limbs would completely change colour, nails blue and her face would flush and swell when laying down with jugular distension on both sides. She began coughing up blood and pink phlegm multiple times a day, everyday. She continued to be told that her scans were clear (as are Rumi's) and that these physical and acute symptoms were due to anxiety.

Jess has been bounced in circles between expensive specialists and imaging without anyone managing her care, which she has been largely left to figure out on her own. She has been able to rule out some things like thoracic outlet syndrome, eagles syndrome, mast cell activation syndrome etc. Doctors are no longer calling her hysterical but they are now labelling her with an unknown chronic condition, too complex and atypical while still no one is helping to properly manage her care or future direction.

Jess has been diagnosed with craniocervical instability, retroflexed odontoid and tethered spinal cord, just like Rumi. Because of how sensitive her tethered spinal cord is causing her episodes of paralysis, her top specialist neurosurgeon in NYC recommended that Jess have a craniocervical fusion and tethered cord release at the same time. This would cost $210k USD (which is approximately $310k AUD) not including flights and other hospital expenses.

Unfortunately, Jess is unable to move forward with this treatment plan as she has the separate, undiagnosed and much more unstable vascular issues that were triggered by the lumbar puncture injury. They are still trying to find what is causing this, but suspect a major vessel in the chest is being compressed. Her radiologist who specialises in connective tissue disorders is ‘completely stumped’ that she doesn’t have a ‘massive tumour’ on her Superior Vena Cava which her symptoms suggest. There does seem to be compression of the base of the SVC between her pulmonary artery and ascending aorta, and a recurring 'slice' between her ascending aorta and SVC which hasn't been accounted for.

Jess is completely unable to lay down. She is forced to prop herself up on a wall or wedge and pillows. This would make even the strongest of people go insane. She has been unable to work, drive, cook, clean or properly co-parent. She cannot lift anything and now doesn’t leave the house outside of medical necessity. She can barely walk or talk before losing her breath and voice, fainting and appearing to be strangled internally. She tries pushing herself to breaking point every single day just to be present in Rumi's life. She requires so much help for not only herself but also to continue to help care for Rumi and participate in her life.

If anyone in the medical field could help find her better suited specialists or an advocate please contact us directly to Jess's email address.

Jess's current major vascular congestion symptoms are:

Her recent imaging shows:

Current situation

Rumi is having another surgery this week that Jess is unable to assist with as she can't safely be there without assistance. Jess is also due to move out of her rental house in a week’s time and has not been able to secure somewhere suitable for their health needs, and be close by to Rumi’s father who provides constant emergency check ins and day to day support for both of them. He is completely burnt out from trying to support them both.

Any contributions would go towards both of their mounting medical costs and ongoing investigations, accessing more specialised care as well as a safe and secure place to live that may include home modifications. Jess and Rumi stayed with my family for a few months in 2021 while they tried to find a rental in the start of the current housing crisis. I witnessed first hand their daily struggles and want nothing more than to see them safely settled somewhere where they can enjoy their days as peacefully as possible, as well as the day they can both access timely and appropriate medical care.

Jess has not been physically strong enough or able to speak up or post about what she has been going through for so many reasons, including feeling isolated and defeated from the gaslighting. She is so tired of having to fight so hard for them both to receive adequate and appropriate health care, and can’t do it anymore. The ongoing gaslighting has now caused the whole family severe medical PTSD and they would rather live a quiet life away from medical intervention, if that was only possible. Their experience has also highlighted the enormous challenges faced by people with rare and complex medical conditions in the current health care system which fails to cater and appropriately help them.