Joshua and Jeremiah’s Story

joshua Portrait


Diaz LPIN1 Angel April 26

Joshua early in 2014

jeremiah Portrait Pic


Jeremiah has Rhabdomyolosis LPIN1 gene, but has never had any major episode and has been in the hospital only because we are terrified from how quickly we lost Joshua.

We also have two other children, Isabella and Xavier who are only carriers.


Joshua and Jeremiah's stories were written by their mother Maria.




Joshua was a great 8 year old.  He was the oldest of our 4 children.  Joshua had 3 major episodes. 

His first one was back in 2008 when he was only 2.  He just simply woke up complaining of leg pain and refused to walk the whole day.

We took him to his doctor and they said it was just growing pains.  Later that day he just got better.  I think that was a miracle.

His next episode was in 2010 when he was just 4.  I had taken him to the ER because he had fever and was complaining of ear pain.  We went home with antibiotics. 

Later that night he began to crawl and complained of leg pain.  We rushed him back to the ER and they ran several tests and placed him in ICU and they told me he had rhabdomyolysis.  We stayed in ICU for about 3 days, and 2 days in a regular room.  Everything got better.  Four months later the genetics doctor called and told me he had this disorder so we followed up with her and got an emergency plan and all.  His last episode was his last.  On Wednesday April 23, 2014, I took him to a dental appointment where he had a tooth extracted.  The dentist came out and said that Joshua may have swallowed a piece of equipment.  Worried, I took him to the closest ER where they did an xray and he was fine.  We went home and he got in bed and the next morning I went to work and when I returned he was complaining of leg pain, and of course he hadn't eaten because of the discomfort due to his tooth extraction and other work he had on his teeth.

When we got to the ER he quit walking and as soon as they got his vitals he lost feelings in his arms and developed a rash that would come and go on his chest and face.  This also happened to Tom before he passed.  It took them an hour and a half to start him on IV which I had been anxiously telling the nurses he needed.  He cried so much from all the pain and was hungry so he did eat.  His CK levels were only 1500 and his potassium levels were normal so they gave me the option to go home.  At the time I wanted to take him home because he wanted to leave but again I couldn't even touch him because he was in so much pain.  My mom convinces me to keep him there so we ended up being admitted 3 hours later.

They started him on morphine for pain.  By 1.30am on he goes under cardiac arrest and at 2.15 on April 25, 2014 I lost my oldest sweet boy.