Personal message

Sadie, was firstly born with a unilateral cleft lip, but
with today’s amazing surgery, it was fixed beautifully. When she was born, she
also had one of her eyelids partially still joined, which had to be cut open.

When she was about one she was diagnosed with Ectodermal
Dysplasia based on all the signs of the syndrome.  It was later suspected
that it was a version called Haywell’s syndrome. That again is a congenital
condition, but she had it mildly. In severe cases, children have no eyebrows,
eyelashes, very poor quality and quantity of hair, poor quality of nails, low
set and protruding ears, the teeth grow out “pointy” and they have
underdeveloped sweat glands, which means that body temperature regulation is
affected. Therefore, fevers can be dangerous and extreme cardiovascular sport
needs to be avoided. So Sadie had very delicate hair, a few pointy teeth, low
set and slightly protruding ears and slightly underdeveloped sweat glands, but
enough that she got hot easily!!

In mid-November 2013 she suffered with an extreme viral
infection, with fevers in the region of 40 degrees for 3 solid days.  In
mid-December 2013, she was diagnosed with dilated cardiomyopathy. That is weak heart
muscles and an enlarged heart, and in layman’s terms “heart muscle disease”.
The cardiologist could not say whether it was the virus that had attacked her
heart causing this, or whether it was congenital, but was planning on doing an
angiogram to exclude any physical defect, which could be corrected surgically.
She however never had the opportunity to have the procedure done as this was
booked for the 25th of June 2014.  From December 2013 to mid-June 2014, her condition was treated with chronic medication. Her cardiologist was
satisfied with her heart remaining at least stable.

Early in June 2014, she picked up an infection which
was treated with antibiotics, however, towards the middle of June 2014, we were not
comfortable with her condition, and she was admitted to hospital on the 13th
of June 2014.  Essentially she was being treated for pneumonia or some form of
infection in the lungs, however the infection had put her into cardiac
failure.  She had what we didn’t know at the time was probably a cardiac
cough which could explain why the infection took time to be picked up, and this
was because in fact she was in mild cardiac failure. We actually, in
retrospect, realize she was probably in this condition for quite a while prior
to this, but she obviously “managed” as she was a real fighter. The onset of
infection just escalated her failure and she clearly had a weakened immunity so
could not fight the infection. While in hospital, the doctors struggled to
identify the infection that they were treating, and also with the Ectodermal
Dysplasia, her fevers were difficult to manage too. We were very hopeful that
she would pull through, but the infection levels, as well as the balance of all
treatment for the cardiac failure to ensure normal heart rhythm ultimately
became too much for her and the cardiac failure worsened, until after 27 days
in hospital and under the most brilliant care, she passed away on the 10th
of July 2014.

Through research, it has come to our attention that she is
now the 4th reported case worldwide, where with combined Ectodermal
Dysplasia and Cardiomyopathy, has lead to death in childhood. So this appears
to be a very rare, but clearly deadly combination.

Sadie was 3 years, 9 months old when she passed away. She was a very special, feisty,
fearless, passionate and intelligent little soul and is so dearly missed.

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