Thursday, October 16, 2014

Darien's Story--A Story of Hope

My name is Danae Cessna and my husband is Jeff Cessna.  I was asked to be a guest author on Newell Belnap’s blog and The Belnap Foundation's blog.   We have a beautiful 9 year old daughter named Darien, and this is her story…so far. 
When our daughter, Darien, was two years old, we noticed delays in her motor skill progression, speech and gait.  Her walk and run started becoming somewhat awkward, as if she was having problems with her balance.  We were quietly concerned but felt reassured by pediatricians that she was just a bit “delayed” developmentally and would probably progress fine.  But after a few more months, it was recommended by a close friend that we might have her screened by the AZ special educational services to see if perhaps she might qualify for some early pre-school entrance to help give her a head start. 

When Darien finally started Kindergarten, she was much worse in terms of poor balance, clumsiness, easily fatigued, unsteady gait, slow and slurred speech, and focusing.  She started in a regular Kindergarten class but a few weeks later we were called into the school to meet and discuss the possibility of placing Darien in a class for kids with special needs – where she could receive more one on one care and have an aid to assist her all day long when needed.
We didn’t like to think of her as “special needs” because we just didn’t want to believe that Darien might fall into any category that wasn’t perfectly “normal” and healthy.  We grew up with our stereotypes and small minded expectations but suddenly we were starting to learn about a whole other world.  A place where kids had some serious challenges and needed much more attention and learning tools than we were ever aware of.

Bailey, the service dog at Blue Ridge
Elementary for children with disabilities

In January of 2011, when Darien was 5 and ½, we took her to Phoenix Children’s Hospital to have some tests done.  She met with a neurologist who recommended her over to the Genetics department.  After hours of interviews with the doctor, an MRI, blood panels and general tests, we were told that Darien most likely had a rare genetic condition called Aicardi-Goutieres syndrome and that her basal ganglia was calcifying.  This condition did not have a specific treatment and it was unknown to the doctor how long she would live because according to the current literature, most people with this disorder do not survive past childhood.  Jeff and I left the hospital with Darien to go home.   We felt like we both had been hit by a semi truck.  The shock and pain of that moment will stay with us forever.  We tried hard to keep it together for Darien’s sake and focus on the NOW of her but we were so devastated and it was difficult.

Several months later, we were asked to come back and meet with the doctor to go over some additional blood tests and the DNA analysis he had ordered for her at our last meeting.  We were then told that she did NOT have Aicardi-Goutieres syndrome (WHAT??) and might have a different condition involving her inability to process certain proteins.  Well, now we were just baffled.  A little angry but relieved at the same time.  The problem that what was causing her to illness and regression was still unclear.  The doctor wanted to run another DNA panel to confirm before giving us any other information.  In the meantime, Darien went on a no-protein diet with some horrible tasting supplements and vitamins.   We held our breath waiting for the next “diagnosis”.   Some months later we met with the doctor at Phoenix Children’s again and were told that he had run all the tests he could think of but could find no clear diagnosis for her condition.  He took her off the no-protien diet because the DNA panel ruled that out.  We left that meeting with a final diagnosis of Familial idiopathic basal ganglia calcification.

Sydney and Darien enjoying the assembly

It was around this time when we both quit our jobs and moved up to Pinetop, Arizona in the White Mountains.   We needed a new start, a refocus and really just wanted to take Darien somewhere we could all breathe and have a little quiet.   Darien continued to go to school and do relatively well academically and thrived socially.  Everyone loves her and looks out for her during the school day and she loves her teachers ,  friends and resource classes in the special needs department. 

Some of Seth and Darien's special needs teachers and therapists at Blue Ridge Elementary

This spring (March 2014), I met Newell Belnap and two of his children, then 7 yr old Seth and Sydney age 18 at the elementary school.   We were both there picking up our children.  Little did either of us know that Seth and Darien were good friends.  They rode the same bus and had many special education and therapy sessions together.   

Seth & Darien April 2014

Seth & Darien embracing at the Fundraiser Assembly

Newell saw Darien and some of her obvious difficulties with fine and gross motor skills.   Newell approached me, introduced himself and informed me that Seth had a rare disease called Leigh’s syndrome.  He told me about his diagnostic odyssey and how everything changed when he met a pediatric neurogeneticist in Phoenix named Dr. Vinodh Narayanan.  He explained that Dr. Narayanan believed Seth had a form of mitochondrial disease and had referred his family to a specialist in Atlanta named Dr. Shoffner who confirmed the diagnosis of mitochondrial disease, specifically, Leigh’s disease.

After some email correspondence, we met with Newell and Becky Belnap at their home.  They told us that they had created The Belnap Foundation, a 501(c )(3) non-profit organization whose mission was to raise awareness and money for Mitochondrial and other rare genetic diseases.  We met with them  to discuss an upcoming fundraiser and assembly at Seth and Darien’s school to help raise awareness of rare diseases for the local elementary, middle and high schools. The assembly kicked off a “penny-war” fundraiser which was wildly successful! 

Seven of the eight heroes at Blue Ridge School fighting a rare genetic disease

Darien joined the other eight local kids with rare diseases in the assembly and had a great time. It was not only an awe-inspiring week of school-kids active involvement with a great cause, but their example helped prompt the rest of the local community to get involved and contribute to the fundraiser as well!  This fundraiser raised over $12,000 for children with rare genetic diseases.  It was the most successful fundraiser in the history of the school.

Dr. Phil Johnson sharing his experience with a rare disease as he speaks of his son Kyle who 
died at an early age of an unknown rare disease

Presenting the HEROS to the Blue Ridge Student body who the students at Blue Ridge rallied to raise money for

We had more discussions with Newell and his wife Becky regarding their journey.  There was so much in common with our stories.  Overwhelming feelings of fear, uncertainty, hopelessness, and just appreciating every minute we have

with our children.  Newell and Becky told us that Seth’s prognosis was poor.  They told us about how devastating it was to hear that their sweet boy could live 6 months to 6 years.  This uncertainty is a parent’s worst nightmare.

Newell Belnap showing an MRI of a
patient's brain with mitochondrial disease

They then spoke about Dr. Narayanan and a study he was the principle investigator for, that was being done by a company in Phoenix called TGen (Translational Genomics Research Institute) at the Dorrance Center for Rare Childhood Disorders  This study was looking at children with a rare undiagnosed genetic disease.  They had been enrolled in this study since 2010.  Uncertainty and fear turned to hope on December 17th, 2012 when Dr. Narayanan called Newell and told him they had found the gene that was causing mitochondrial disease in his family.  He then spoke of the next step to find possible treatments. 
We decided to take Darien to meet with Dr. Narayanan and see if he might have some ideas regarding her condition.  We didn’t have any expectations and were frankly a little wary at this point due to our past experience with mis-diagnoses.   Dr. Narayanan amazed us right from the start!  He took on Darien’s case right away and showed a level of expertise and compassion for her condition which brought me to tears immediately.  I had actually given up and was resigned to just live our lives as they were.  I didn’t think there was another option.  But Dr. Narayanan’s confidence in getting to the bottom of Darien’s mysterious condition was infectious.  Right away he ordered her whole Exome sequencing on Darien, me, and Jeff all courtesy of TGen!  He ordered several other tests including a CT scan,  spinal fluid, blood and urine analysis.   After getting back some of the test results he told us that Darien does NOT have basal ganglia calcification and most likely has a mitochondrial condition.  He is very hopeful that the Exome sequence will help pinpoint the specific gene causing the problem.

We don’t have the final answers yet (we have a few more months of waiting still), but like Dr. Narayanan, we are also looking forward to a positive outcome.  We have hope again and are very thankful to the Belnap family for their love and encouragement.  TGen and Dr. Narayanan are fantastic and we are so grateful to them for their knowledge and advancements in genetic research.  We know that without the help of The Belnap Foundation, we would not have answers for our precious daughter. 

Dr. Huentelman, Dr. Narayanan, and Dr. Craig posing with the Belnaps
after discovering the gene causing mitochondrial disease in their family