Eli's Story:

Eli is one of two beautiful stars in our sky.  The other being his big brother, Noah, who is one year older, intelligent, articulate, and with no medical issues at all. 

Elijah Forrest Granard will be nine years old on August 29th, 2009!  His story is one of love, hope, faith, endurance and constant worry for those who love him. 

There is a large variation of symptoms from case to case within Ring 14. 

Elijah's case is intense involvement at times.  Not as severe as others I know; not as easy as most.

Diagnosis:

Eli has been diagnosed with a chromosomal disease  named RING 14.  It was confirmed by chromosomal analysis at Duke University, Stanford Medical Center,Cedars Sinai and UCLA.  His actual karyotype is 46,xy,r(14)(p11.2q32.3).  Elijah's prenatal life was very normal.  Mom was positive for Kell anti-bodies, but we were told Ring14 was not related to this. 

How It Started:

Eli was (is) a beautiful boy with no known health problems, except  during  his 5-month regular check-up, where he showed no head growth.  At the time, we were told,  "Don't  worry, he will catch up".

Then, at 6 months of age (February 19, 2000), he had a series of seizures. He was gasping, jerking, staring, having tremors, not responding to our voices, limp, and had dilated pupils.  We took him to the emergency room and a myriad of tests were performed.  He was admitted, and for many days he was observed, poked, scanned and measured. 

Everything possible  was done for him.  He was sent home with "idiopathic epilepsy", or seizures of unknown origin.  The only test that was pending was a chromosomal analysis test that took several weeks to complete.  The doctors didn't think that he "looked" like a chromosome baby, and felt sure his tests would be negative for any genetic trouble. 

His chromosomal analysis test was expected to return from Duke University as "normal".  It came back 3 weeks later with this strange karyotype. Twenty out of 20 cells tested were affected with Ring 14. 

What did this mean?  The admitting doctor told us to see Genetics.  We made an appointment and scanned the Internet.  We had our own chromosomal surveys done.  As parents, we wanted to see if we were carriers to this disease.  We were not.  This is a de novo case, meaning "it just happened " during cell division on its own.

What we found through our Internet searching was pretty heartbreaking.  Barely anything existed to help us find answers except  a few examples of very sickly looking infants that didn't look like Eli. 

We were lucky to find some support groups (Chromosome Deletion Outreach, out of Florida, and Unique out of the U.K.).  There are others in France. This is where we began to learn about our son, through other parents who have children with similar illnesses. 

Of course, we were devastated by all of this.  We weren't prepared to live a life of 24-hour care for our baby.  Our living room turned into an I.C.U.  What about his brother?  What about normal family life?  We were never told about resources, equipment needed, and the many hours of worry.  

He needed us to save his life, many times! His apnea may have not surfaced at that time, but it would have saved him many trips to the ER.  I am thankful for my career in nursing, but I have never experienced anything like this.

"Is Eli still breathing?"

We  would never speak that thought out loud, but it was clear that was what we were all  thinking.  

I think he was held 16+ hours out of the day in the first year.  It's no wonder that his brother Noah resented us whenever Eli needed medical attention.

Medications:

Eli is on a variety of meds for seizures. Topamax, Lamictal, and Klonopin seem to work the best for him. 

The Effects (not the "Special" kind):

As his mother, I frequently have to give Eli rescue breaths during seizure episodes (apnea means not breathing).  We noticed other features of this chromosome deletion emerging as well. 

His head wasn't growing at a normal rate (not noticeable to most, but definitely to us), he wasn't eating, he was weak and he didn't crawl or babble the way typical babies do.  Eli had sleep apnea, tremors and developmental delay. 

I should have been told to get some oxygen in the house, an apnea monitor, Diastat, a pulse oximeter and other various medical necessities, such as in-home nursing and services during his very first hospital discharge. 

His brain MRI is clear these days, though his corpus colosum is  still thin and he has a small area of infarction (stroke) and a small pituitary gland.  This was verified by a top Pediatric Neurologist at UCSF.  He head growth is a worry for us. 

Second in importance only to eating, he is still not really talking (a few times in his life we've gotten something that sounded like, "Mama", but the rest is just baby babbling, razzberries and crying like a 0-1 year old). 

He  has eating difficulties due to a short tongue, high arched palate, small jaw and a small frenulum. 

Hospital Admissions:
(We kept a log)

In October of 2001, we had Eli admitted for a 48-hour videotaped EEG at UCLA.  He was diagnosed with generalized seizure disorder, having atonic episodes.  He had another 36- hour video EEG here at home a year later, and discovered more of the same (generalized seizures with apnea).  

There is no focal area of his brain that could be removed, like some other wonderful happy stories I have read about children with this problem.  It is occurring in areas scattered throughout  his entire brain.  We may start the Ketogenic diet, but only if indicated.  Currently, he has a few minor episodes in the night time.   He would have to have 10-20 seizures a day for us to reconsider it. 

In December of 2001 he was admitted to the hospital for an NG tube/nutritional boost (a narrow tube is put down the nose into the stomach for feeding).  That unfortunately failed, and Eli (and the family) acquired the Rotavirus while at the hospital. He also has had RSV. 

On January 25, 2002, Eli had to have major surgery.  A Nissen / Fundoplication / pyloroplasty with a g-tube was inserted (a feeding tube into his stomach).  He now has a continuous feed  (many breaks throughout the day) via a tube to help him gain weight. 

It was another painful procedure for him to endure.  He bled, gagged, cried, arched and was very unhappy for almost an entire year.  He had gained almost no weight one year post op. I wasn't informed that this could happen.  We were praying for ounces to be gained weekly.  Finally during the 10th month post-op a pound was finally gained.  

This first procedure "fell apart" sometime around the third month of it being placed.  Bloody gastric output was observed in late April.  He had to live on drugs to make him sleep to help the pain, etc.  He refused to swallow food, and cried A LOT!!  He was still only 17 pounds. 

This was so unlike our little boy, we knew right away he had another problem.  He only truly cries out when in pain, and that now happening all of the time.

It was discovered/confirmed that he had suffered a paraesophageal hernia and the Nissen had fallen apart.  His stomach was protruding through his diaphragm and had to have this surgically corrected.  

I was told that the chances of this happening was 5% or less.  Yeah right...

On May 17, 2002, we found a very skilled doctor at Cedars-Sinai Hospital in Los Angeles (Dr. Steven Chen).  Dr. Chen performed a corrective laparscopically, and Elijah is now doing much better.  A year and a half later, still with other difficulties, Elijah has gained substantial weight. 

The Hand Injury:

After the December 2001 admission, Eli was re-admitted the next day for dehydration and sustained a severe hand injury due to an I.V. infiltration (gross negligence on the part of the hospital and the nurses).  Plastic surgery was a possibility; he was in a lot of pain.  Elijah's hand took 10 weeks of constant and painful dressing changes to finally heal over completely.  Now he is dealing with a thick scar and nerve damage.  He still sees the plastic surgeon for follow-up care.  His ability to utilize sign language is impaired; Eli is still sensitive to this day about holding anything with that hand.

[2009] - There've been many more admissions since then, but you get the picture..

Prognosis:

The cases we have found have shown mixed results.  Some of these babies reach an IQ of 50, others better, some worse. 

Eli is a curious, happy, peaceful little boy.  He has no idea that anything is wrong.  He can be at peace just watching everyone talk, or just being held.  He says, "ehh-ehh" when he wants something. 

Eli's seizures continue to this day, with occassional times of stability.  Eli can go for about two weeks weeks with no seizures, and then suddenly have clusters of 5-10 a day (lasting from seconds to many minutes). 

My husband is thankful that the seizures are not the visually disturbing and heart-wrenching "body-flailing" that you see on T.V. (though he has had a few "jerking" ones), but instead are as though Eli has just fallen unconscious (or his thoughts are just "elsewhere" as he stares off into space; perhaps pondering great thoughts!).

Summing It Up:

We feel that we have been blessed to have Elijah in our lives.  He is a pure soul and really a fun little guy.  We can't imagine life without him.  I can't say enough about how he draws people to him, as does his big brother.  He has a "presence" in everyone's eyes. 

This child truly is an angel.

We hope that this site can become a meeting place for those families who share this or other chromosomal disorders.  Please email us your stories and pictures, and we will be happy to add on to this site.   

A final thought:

We'd love to hear from you.  We're very thankful to all of you who've kept Eli in your prayers and thoughts. 

Warmest Regards,

Terri and Ryan Granard