Ehlers-Danlos syndrome: Hamilton mother fears daughter will develop AVCS

Teenager Jemima Thompson was given three years to live due to an abdominal condition – until she went to Germany and had a life-saving operation. Her younger sister Matilda died 11 years ago from what their mother Rachel Mckenna suspects was the same condition. Now, Mckenna fears for her youngest daughter, Clementine.

A Hamilton mother who has lost one daughter and saved another from what she believes was the same rare and debilitating condition now fears her third daughter may develop it.

Despite being raised in Rotorua, she says she may consider leaving New Zealand for a country with better care options if the public health system doesn’t change.

Rachel Mckenna’s 5-year-old daughter Clementine was recently diagnosed with Ehlers-Danlos syndrome (EDS).

Clementine’s symptoms of the genetic connective tissue disorder are not life-threatening, but Mckenna fears they could be if she developed a co-morbidity, abdominal vascular compression syndromes (AVCS).

Mckenna is knowledgeable about the two conditions after her eldest daughter, Jemima Thompson, was diagnosed and underwent surgery costing $160,000 in Germany last year.

In 2013, Mckenna’s second eldest daughter, Matilda Thompson, died from what Mckenna suspects were the same conditions.

A doctor in Germany told her the probability Matilda died from side effects from EDS due to AVCS was “evident” and he saw a predisposition in siblings with AVCS.

Now, Mckenna fears for Clementine should she need treatment one day.

Without the surgery in Germany, Mckenna believes Jemima would not be alive.

Mckenna is speaking out after the Bay of Plenty Times shared Bay local Pam Coburn’s story of battling EDS and AVCS while preparing for lifesaving surgery in Germany, and reported on Hamilton vascular surgeon Dr Chris Holdaway’s efforts to introduce the surgery in New Zealand.

Common characteristics of EDS include joints that move more than normal, unusually stretchy skin and fragile tissue with wounds that take longer to heal.

Vascular compression syndromes are a group of conditions occurring when blood vessels are under abnormal pressure, restricting blood flow, which can make a person feel weak and cause extreme pain.

‘A real mystery’

Mckenna told the Bay of Plenty Times Matilda died of dehydration aged 4 after experiencing issues with eating, drinking, vomiting, and abdominal pain.

The family lived in Singapore at the time but moved back to New Zealand after Matilda’s death.

She said Matilda’s issues were “a real mystery” until Jemima got sick in 2022. Then it became “deja vu”.

Jemima (left) and Matilda Thompson.

Jemima said she became sick in September 2022, experiencing pain when she moved, ate and drank.

She was admitted to Waikato Hospital where she spent almost seven months.

Jemima said her feeding tube was placed in the first week.

“As they increased my feeds, it felt like the iron fist in my stomach was clenching harder and harder until I told them I couldn’t take any more pain.”

Jemima Thompson at Waikato Hospital before she went to Germany for surgery.

In November 2022, Jemima was diagnosed with EDS and given three years to live by a private specialist.

Jemima explained she was reliant on artificial nutrition and her central line kept getting infected while Mckenna said the prognosis was based on her “rapid deterioration”.

The specialist suspected AVCS and gave her some information about the condition and surgery in Germany.

‘I’m not dying any more’

In April 2023, Jemima had surgery in Germany. She was approved for some funding through the Government’s high-cost treatment pool – application-based funding for private or overseas treatments.

“I went from just lying in bed to being able to go back to dance, to hang out with friends, to do everything that I was doing before I got sick.”

Jemima Thompson pictured in Germany post-surgery, able to eat normally again.

Jemima said she still suffered from EDS and had digestive problems but could “pretty much eat whatever I want”.

Her pain was more manageable.

“And I’m not dying any more.”

Easier access to diagnosis, treatment needed - mum

Mckenna said Clementine was recently diagnosed with EDS.

She said Clementine was “very flexible” but not otherwise sick, but feared for her future given the family history.

She said she wanted an “easier pathway” for diagnosis and treatment in New Zealand.

Clementine, 5, has been diagnosed with Ehlers-Danlos syndrome. Photo / Mike Scott

“It just makes me think … do I need to move? Is change going to happen in that time?

“I don’t know how I can stomach or face having to go back into the system as it stands.

“I hope that... should we ever need it for Clementine, the diagnosis and treatment and surgery will all be quick and easy to access.”

Hamilton mother Rachel Mckenna and her children Oscar, Clementine, and Jemima. Photo/ Mike Scott

Te Whatu Ora statement

A Health New Zealand Te Whatu Ora spokeswoman referred to a previous statement about EDS and AVCS.

It said diagnosis could be difficult and only be made after criteria were met, and delays would occur at times, especially with rare and complex conditions.

It sought to deliver evidence-based assessment and treatment.

“It is normal practice to consider common conditions before those that are less common.”

The severity and complexity of EDS and AVCS varied between people and problems could accumulate over time.

Treatment options for AVCS differed for each individual and a range of vascular services were available across New Zealand including through primary care, allied health and specialists when needed.

Treatments could involve pain management, physiotherapy and splinting. Many responded well and did not need further interventions.

Vascular release surgery, considered experimental, may be recommended in some cases.

It said it recognised that sometimes accessing all multidisciplinary components of care in the health system could be challenging.

Health NZ said creating the high-cost treatment pool recognised New Zealand could not provide all treatments, technology and expertise available in other countries.

“Because New Zealand has a relatively small population and hence has small volumes of rare conditions and related treatments, we also acknowledge that some patients who have problems which may arise from vascular compression complications may seek overseas treatment.

“This means that although we could have a clinician train to perform a specialist surgical treatment, unless the specialist clinician regularly performed sufficient volumes of the treatment, they would be unable to maintain their skills and expertise.”

Clinical specialists treating patients with rare and complicated cases could apply to the pool to support access to appropriate “one-off” and otherwise unfunded treatments.

The application process required supporting documentation and “considerable clinical discussion”.

Applications were assessed against eligibility criteria by a panel of Health NZ chief medical officers. Each case was also considered for “exceptional circumstances” beyond that criteria.

Megan Wilson is a health and general news reporter for the Bay of Plenty Times and Rotorua Daily Post. She has been a journalist since 2021.