Genetics Results (Asparagine Synthetase Deficiency)

   Hello and Happy Holidays to all of Jules followers! I am the very proud Auntie of our beautiful, blue eyed girl! My name for Juleyana is "Bee." It stems from one of my brother's (Bee's Daddy) favorite fruits, "jujube." So, since her birth, I've called her Jujube which has simply become Bee. I love my Bee. 

 

    Bees (the insects) are known for pollination - something impactful and life giving. My Bee pollinates our lives with love, beauty, tenacity, hope and joy. My Bee showers us with hugs, kisses and cuddles. Her beauty is picturesque and shines through those bright blue eyes. She is tenacious in all of her therapy endeavors (7 sessions per week), which has enriched her life and ours the last 6 months. Bee's tremendous strides and her feisty demeanor have and will continue to bring us hope and joy through this journey.

    I have saddening news to share with you. News that ran us over and left us broken... Mommy, Daddy and Bee gave their blood 8 weeks ago in a final attempt to see if this would bring anymore answers to her struggles. 
    On Tuesday, December 6th, we received Bee's genetic testing results. It has been confirmed that she has Asparagine Synthetase Deficiency. This genetic condition is so rare that there are only 20 reported cases worldwide and has only been studied since 2013.
What is Asparagine Synthetase Deficiency? 
    Asparagine Synthetase Deficiency is caused by mutations in the ASNS gene. The ASNS gene makes a protein (or enzyme) called Asparagine Synthetase. The proteins job is to convert one substance (amino acid) to another, aspartate to asparagine. When this enzyme is not working, the amount of the amino acid asparagine is low, and the amount of the amino acids aspartate and glutamate is high.

    The Asparagine Synthetase enzyme is highly expressed in brain cells. The lack of asparagine and the build up of glutamate and aspartate, lead to abnormal functioning brain cells. Individuals with ASNS gene mutations have symptoms that mainly affect the brain. Symptoms include small head size, poor growth, seizures that are not well controlled with medication, wasting away or atrophy of the brain, developmental delay and intellectual disability. There is still a lot unknown as it's extremely rare.

How did Bee inherit the ASNS gene mutation?
    Asparagine Synthetase Deficiency is an autosomal recessive condition. In order for an individual to be affected, they must have two non-working copies of the ASNS gene. This means that both parents of an affected individual must be carriers. Carriers have one working, and one non-working copy of the ASNS gene. Carriers have no symptoms and are not affected by ASNS.  Carriers can either pass on the working or non-working copy to their children. The recurrence risk for autosomal recessive conditions is 25% to have an affected son or daughter.

    Bee's Daddy is heterozygous for the S427P variant in the ASNS gene. Bee's Mommy is heterozygous for the R519H variant in the ASNS gene. In silico analysis predicts these variants are probably damaging to the protein structure/function. These variants are strong candidates for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
We have our diagnosis. Where do we go from here?

Our plan of action is to continue loving and supporting our Bee. I believe love alone can do miraculous things. We will continue seven therapy sessions every week, plus all the extra Mommy does with her at home! (Side note: Mommy is extremely dedicated and attached to Bee. She is the greatest ingredient in all of Bee's successes.) Lastly, we have already begun the research process. We hope to find doctors who are currently studying and testing Asparagine Synthetase Deficiency as well as others affected by this rare genetic condition. We pray that we will find answers that will benefit our Bee and others. 
I appreciate you all taking the time to read this long, medically informative post. If you have any questions, please ask! Bee's diagnosis has me heartbroken and emotional, yet so very hopeful and optimistic. I (my family as well) am around Bee at least 3 days a week and have witnessed her hard work come to fruition. She amazes me and strengthens me every time I see her. She also makes me cry (milestones), but then smile again... I love my Bee and I'd love to leave you with some "Bee Buzz!" Enjoy and take care! 
Bee's Auntie,
Jenny

•BEE BUZZ•
- Just shy of 18 months old
- Crawling everywhere and getting into trouble!
- Loves to smile and giggle :)
- Loves eating cottage cheese with sissy and Grandma :)
- Loves avocados, cheese balls and sushi!
- Pulling herself up to stand!!!
- Loves playing with her siblings, her cousin Mayci and pulling her hair too ;)
- Likes drinking out of Mommy's cup!
- Responds to her name and babbles back! :)
- 20 pounds, 32 inches

Yes, Happy Holiday’s to all! I have looked to my best friend, sissylaw, and really she is my sister to help me write this blog post. I always have a hard time conveying what I want to say on paper, and she is good at it.

What a great way to start December. We got a phone call from the genetics office on Tuesday December 6^th. Doctor would like us to come in and discuss genetics results. The soonest appointment is tomorrow 8am.  Well I couldn’t bear to wait. I got an appointment that day at 1:30pm, oh and I had to get my husband there as well. You know what that means? Not so great news. My husband and I both held it together. I could see him tearing up, and I almost lost it. The genetics counselor started with the good news…Juleyana was doing great. Then came the bad news, we found this disorder which is an inherited Autosomal recessive trait. Wonderful….NOT! They proceeded to tell us that there isn’t much research and most cases haven’t lived past a year and didn’t meet any developmental milestones….well Juleyana has, so she may not fit the exact picture previously studied. They also labeled her in a “likely pathogenic” category meaning that this is likely to cause a severe problem that may result in death. It was like they gave us this big pill with the word “DEATH” written all over it and wanted me to swallow it up!!!  The genetics counselor so kindly called to check up on us later in the week. Now that we have digested the situation at hand we know that this doesn’t define Juleyana. 

She is her own person and will write her own destiny!

Happy Holidays to all and Happy New Year! !