Jayne’s Story by her mother.

There is a gaping hole in the middle of our family.
My daughter died suddenly on May 3rd 2015.

Of acute pulmonary oedema, the autopsy said.

Her lungs filled with fluid and her heart gave up.

She was 45 and left a six-month old baby.

The kidney condition she had, Gitelman’s Syndrome, is very rare. It involves a very low level of potassium in the body.

We should have known that she was at risk.

From what I’ve found, this is only recently realised by the medical profession about Gitelman’s Syndrome patients – there may be only 1500 in Britain.

If your body is working on a very low potassium level (‘hypokalemia’)……this is the typical information you find online for patients with Gitelmans:

“There are usually no signs of hypokalemia. Some people suffer from weakness, fatigue, constipation, and muscle cramping. In more severe cases, heart arrhythmias, or abnormal rhythms may occur.”

None of the online information available for patients with this condition says clearly that there is a definite risk of sudden death. (As of spring 2015.)

Which doesn’t sound much like this, for doctors:

Sudden Arrhythmic Death (causes of):

“Those who are statistically at greatest risk of sudden death are people with one or more of the following features:

• a previous cardiac arrest (yes for Jayne, during operation)
• blackouts (yes, once)
• a very long QT interval on the ECG (i.e. abnormal, often found in GS.)
• sodium channel mutations (e.g. Gitelmans)
• young adult women.”

She hadn’t seen her consultant for four years for her kidney condition. She may have had few symptoms except fatigue. She probably wasn’t taking her potassium pills, or not enough. We didn’t know she was risking her life.

We don’t think she knew.

….. and I am really angry that we didn’t know.