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Our journey with Menkes disease began on Christmas Eve 2007.  Our son Isaiah had been at Nationwide Children’s Hospital in Columbus, Ohio for 3 days.  We came to the emergency room via ambulance because he was having a seizure.  We didn’t know that at the time, we just knew something was very wrong.  The ER doctors were concerned because they couldn’t stop his seizure activity, and had no idea why he was seizing.  Those three days were filled with test after test, ruling out diseases we had heard of, and some we had not.  He turned three months old on the 23rd, and we received his Menkes diagnosis the day after.  He stayed in the hospital until January 9th, when they finally were able to get his seizures under control.  He still had several a day, but they were mostly sub-clinical and the doctors had done the best they knew of.  He went home on 4 seizure medications, a reflux medication, and a monitor for his pulse and oxygen.

He did fairly well at home, but still had breakthrough seizures that we were able to treat with Diastat.  On Mother’s day weekend, he was extremely lethargic and sleepy.  We were able to wake him up to take his medication, but that was about it.  By Sunday we could hardly even do that.  Monday morning, we were back at the hospital.  The doctors were trying to give us a positive outlook, but we could tell they were very concerned.  Over the next two and a half days, they tried several life sustaining procedures, to no avail.  He was in a medically induced coma from Tuesday on.  Isaiah’s brain had stayed the size it was at three months, but his head had continued to grow appropriately for his age.  This caused his brain to literally shake itself around in his head, causing swelling and bleeding.  They put a drain in his head and tried to relieve the pressure, but too much damage had been done. Isaiah went home to God on May 14, 2008.  Though we miss him daily, his life and death were not in vain.

Isaiah’s brother Tarron Elijah was born on November 2, 2009.  Isaiah’s Menkes disease had been attributed to a rare genetic mutation, but we were still worried.  We insisted Tarron be tested, and he was at 8 days old.  Unfortunately, he was diagnosed with the identical mutation of Menkes at 15 days old.  At 18 days old we flew to Maryland and met Dr Kaler at the National Institutes of Health.  We were thrilled to learn that treatment was possible, due to early diagnosis.  We learned how to administer the copper injections, and optimistically came home. 

Since then, Tarron has thrived.  He is extremely happy and outgoing.  He laughs all the time, smiles, and tries to talk.  He is cognitively and physically delayed, but is working very hard in therapy.  He receives physical, occupational and speech therapy at home.  He is making progress, his therapists love working with him.  With a wrap around his back, and a little help, he can sit up and play!  He has only had one seizure, and is not on any seizure medication.  He has reflux, allergies and skin issues, but all are managed with medication.  His biggest deficit is his size.  He is significantly underweight.  He may be tiny, but his personality and impact on people are huge!  He is an absolute blessing!  We believe in miracles!!!!!!

Isaiah’s diagnosis came too late to be treated, but it led us to have Tarron tested early.  Isaiah lives on through his brother Tarron!

 

Rondale and Tara McCarrel




 

Posted: July, 2011

Tarron

 

Isaiah

 
 
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