We are a family from The Netherlands.
Elijah is 5 years old, in February 2014 he suffered his first severe rhabdomyolysis attack.
We never knew there was anything wrong with him because he has always been healthy and never ever shown anything like this before.
February 15th around 9 pm Elijah starts vomiting, we have a bug going around the house. I thought it would be best to lay of the food for a day or so and just slowly get some fluids in, thats how i have allways done it before.
The next day Sunday the 16th around 5 pm he starts complaining his legs hurt, when i try to move him or he moves he screams out loud everytime saying “help me mummy help me, do something”. This was so awfull i was so confused. Whats happening to my baby?
I took him to the doctor and she said he has a throat infection, he’ll be fine. I asked her about the leg pain and she said oh, everybody has muscle pain when they have a flu….by this time he could not walk anymore. How could she have not acted on that…I don’t understand.
We went home and I gave him something for the pain which of course did not help at all. All this time being in extreme pain, I started to get really really nervous, I had been nervous all day actually to the point of hyperventilating but i didn’t know why, I was 39 weeks pregnant so i thought it was just stress about labour or something. I now know it was my mothers instinct feeling something bad was going to happen.
Around 11 pm he said he needed to go pee, so i carried him to the toilet, when i lifted him off I saw very dark brown urine and i thought oh no, this is NOT good, so i called the doctor again. He came and looked at the urine, i did not flush the toilet, so he could see and he was in shock. He called an ambulance straight away.
Ambulance came and I was just in so much worry and anxiety I didn’t realize i started to go into labour, the doctor did and told the ambulance to get me checked in once at hospital.
By this time is was around 3 am Sunday the 17th. At 5 am i gave birth to a beautifull baby sister for Elijah, Olivia.
I actually have missed a huge part of what happened to him because I was not there and all my family and friends for some odd reason did not pick up their phones that night. But when i got myself fixed up and went to see Elijah with my brand new baby girl in my arms, about 8 doctors and nurses came rushing into his room and one pulled me out of the room saying “your son is very very sick”. I remember the doctor being so scared she was shaking so bad she could not get IV in anymore, by that time nobody could get a drip in anymore because his veins were not accessible or something i guess or it took too long due to him being so sick. His potassium was 8.8, he was in and out of consciousness and they needed access quickly, so they drilled a hole in his tibia and got a drip in his bone. That was the moment that something snapped in my head seeing that and hearing him scream so horribly them doing that to him, has left me traumatized to this day.
They were able to stabilize him thank God and he had to be transported to a different hospital to get dialysis because his kidneys were failing.
I gave my baby to my sister to take to her house and i went with him.
They took him into ICU and they kept him asleep so his body could rest a bit and they could get him hooked up on dialysis. His ck levels got as high as 600900. He was on dialysis for 9 or 10 days I don’t remember exactly, he needed blood transfusions and couldn’t eat anything, was allowed only little bit of drinks which was hard because after he woke up he complained about thirst the whole time.
He came home after 18 days and it took him about 5 weeks to get all his strength back in his legs and walk properly.
During his stay at ICU they ordered a DNA test to get this lpin1 gene tested, i was told it was very unlikely it would turn out positive because the condition is so rare. 6 weeks later they called me it was positive. That has turned our whole world upside down.
His younger sister aged 3 is a carrier of this gene, my 5 other daughters and 2 sons are from a different relationship so will only be tested on being a carrier when they request this.
I am telling this story to raise awareness and to make sure it is known how very dangerous this disease is.
Please take care of your children if you see any of the symptoms described on this website or if something does not feel right do not hesitate to get medical help.