In 2003, when Bethany was born, we had no idea the journey that we would be on. I had a normal pregnancy and a normal delivery. Even though Bethany’s Apgar scores were fine, to me she didn’t look well. She looked pale and her lips were slightly blue. With testing we found out she had low oxygen levels in her blood and streaking on her lungs. So within a few hours after her birth she was transported to Cottage Hospital in Santa Barbara, California. And there she would stay for one month. She was having trouble keeping milk down with something like acid reflux, but it was more than that. After a test in the NICU, it was discovered that she had a malrotated stomach. So two weeks after she was born she had surgery to correct this. She also had a G-tube placed. But thankfully after her surgery she was able to eat normally and we never needed to use the G tube and it was eventually removed.
I really thought this was extent of her condition. I thought it was a matter of surgically correcting the situation, getting her oxygen and temperature levels back up and helping her eat. I didn’t fully understand what the doctor was explaining to me back then, that she had some type of (genetic) condition that he said we may or may not find the answer to. It took a while for this to sink in, even when we went to UCLA to meet with the genetic counselors I didn’t fully understand what was going on or what we were talking about. But when she was in the NICU, I thought she wasn’t going to make it. I thought she was going to die, though I didn’t know why.
I know God doesn’t make deals or at least I don’t think he does. But I prayed desperately back then. I told Him that I didn’t care what was wrong with Bethany that I would love her regardless and that I wanted to take care of her. If only He would let her live. And I believe He answered my prayer because today Bethany is 15 years old. We have been through so much with helping her in her development and getting genetic testing to find her diagnosis.
In 2015, after 12 years of searching for a diagnosis, I was called by Julie Jones of Greenwood Genetic Center in South Carolina and finally given a diagnosis. Bethany had Champ1 Gene Mutation, a rare genetic mutation that causes severe speech delay and #IntellectualDisability, among other things. It is new and extremely rare and there is not a lot that is known about it because it has not been researched.
“De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features” (Tanaka et al 2015 CHAMP1) The Champ 1 gene is located on chromosome 13q34. In other words, this gene mutation overall causes developmental delay. Here are some additional characteristics people with Champ1 may have: hypotonia, #Microcephaly, severe speech impairment, short stature, may have seizures, congenital abnormalities. But the primary characteristics are an intellectual disability and severe speech impairment.
As of today, as far as I know, there are over 44 cases of Champ1 World wide.
Like Autism Spectrum, there are ranges within this condition of severity and some champs are even diagnosed as having Autism. Bethany has not had that diagnosis.
Bethany did not learn how to walk until she was eight years old and it has taken many years since for her to be more stable. She is nonverbal for the most part. She will occasionally say, “Mama” and “Uh- Uh”, which means no. She can walk with assistance, but is unstable at times and can easily be knocked off balance. But she is improving every day. She needs constant supervision and is incontinent and wears diapers. She is a very happy, loving daughter and we are so fortunate to have her in our lives. We love her very much.
I think it’s important to be careful how you interpret circumstances in your life. You may think: “What did I do to deserve this? Is God punishing me?” But I believe difficult times are not punishments. They are challenges to overcome. You have to dig down deep into your soul and find out what you are truly made of. I was a mess (and still am somedays), but I couldn’t have gotten through all this without my faith and trust in God, and the support, love, care, and prayers of family and friends. Life with a child with special needs is definitely challenging at times. Life is not what I thought it would be, but I find joy in the simplest of rewards and that is seeing Bethany’s spontaneous smile.
There is a Facebook support group for families with Champ1. You can go to www.champ1gene.com to learn more. This site is run by Stacey McPherson of Scotland.
There is also a new research organization that is a non-profit created by one of the families in the support group. You can go to www.champ1foundation.org to read more about this and or donate to help with the research and cure. This foundation was created by Jeffrey and Katis D’Angelo of Florida, USA. And I occasionally blog about Champ1 at: www.champ1champion.wordpress.com