Unknown Phosphate Wasting Sydrome

ava444

On the 9th of July 2013 our family became bigger by 3 little people. At 2:14pm, 2:15pm and 2:16pm we welcome Mia, Kai and Avah at 33 weeks and 3 days. Our family was complete. Since our triplets were born early they were taken upto NICU. Avah struggled the most being born with an Apgar score of O, and our only triplet to need assistance with breathing. We got to see them on day 2 and they were beautiful. On day 3 Avah was losing weight, she was twitching uncontrollably & her eyes rolling around in her head. It broke our hearts seeing her like that and not being able to help. We honestly thought we were going to lose her.

Blood tests showed Avah had dangerously low levels of Phosphate in her blood, so they started her on medication at 3 days of age. Avah continued to need the medication and was having daily blood tests to watch her levels. Her levels were still dropping and no-one could work out why. Medication doses kept going up medicating around the clock. Avah got better but still didn’t gain weight like her siblings. We went into the Dr for a check up and was spoken to by one of the doctors from NICU that questioned us if we were giving Avah her medications which we were but they didn’t understand why her levels still kept dropping even with her medications. We had a talk and was told it could be a Phosphate wasting syndrome but they are so rare it couldn’t be that.

After many many tests and Xrays it came back Avah was born with an aggressive Phosphate Wasting Syndrome that has caused Hypophosphatemic rickets with hyperparathyroidism. We were also told Avah has Falconi Syndrome. Avah has slight bowing in her Femurs even with high doses of Phosphate Sandoz and the highest amount of Calcitriol for her weight. Without medications Avah would not make it. Blood tests have just come back that Avah has nearly 18 times the amount of FGF23 in her blood and we are still waiting and looking for answers and to see if Avah has a new found disease. Avah is a spirited & sprightly little girl and smiles at everyone and everything.

For Avah life is an adventure that needs to be lived and boy does she live it. Avah’s sunny bright personality can only be matched by the golden colour of her hair. More so Avah is a fighter, a little Aussie battler.

1 Comment
  1. I know Avah and she is a gorgeous little thing whose smile can light up a room. Her positive spirit is so addictive that you can’t help but smile or giggle when she smiles. She loves to give cuddles too. I’ve never met a bubby quite as content as Avah and it just goes to show that through it all, there is ALWAYS a positive side to life.