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! !

Thanksgiving 2016

Thanksgiving! We are so greatful for everything we have. We are thankful for our three beautiful children, the house we call our home, our family and wonderful friends.

Last Thanksgiving, we were pulling out our hair and trying to comfort a fussy baby who was 5 months old.This year was such a beautiful day, we relaxed and enjoyed watching our baby girl eat stuffing, turkey, mashed potatoes and the most delicious baked bananas. She devoured everything! We are so thankful and blessed to have 3 amazing children (yet sometime crazy) in our lives and couldn't be more grateful. Today we watched our children play with their cousins, and even get into trouble. Juleyana discovered the filling in the fake plant pot (trouble). Oh ya this girl is on the move! On this Thanksgiving Day, we are grateful for our beautiful family, the family members that we didn't get to see, and our dear friends.

Speech Therapy Day 1

What a Monday; we made it through three therapy sessions. Yesterday Juleyana had her first speech therapy session with the SLP. They worked through play. This therapy session was more getting to know Jules (16 months old) and getting her comfortable with her new therapist.  At this point Jules is making sounds such as "mmmm" "bahbah" and "dah." She is not yet labeling such as mama or dada. We have been working at home with labeling and pretend play, all of which are suggested for speech development. Speech development usually develops at about the time a child begins to walk. Since Jules has been crawling we have seen a big increase in her babbling. We also will begin working on signing words such as "more" "milk" "eat" and "all done." This is just the beginning and we can't wait to see how she progresses in the next 6 months.

It's The Climb

It is Friday!!! Thank God. This has been a rough week getting back into the swing of things after having our oldest daughter off school for 1 month, and being on vacation the last week of her break. I haven’t had much time to do anything, but get the kids to school on time, and get to our therapy sessions. With that said, tonight I am looking over our pictures from vacation instead of doing the mounds of house work sitting right before me. I can’t help to stare at this picture of Juleyana. It reminds me of how we need to live life one day at a time. To see her so content with bliss, gives me serenity, and peace. The calming water of the bay behind her precious little features, reminds me that we must not move mountains, but climb them one step at a time. It isn’t about how fast we get there; it is about the progress we make. Sweet little innocent Jules, keep climbing, keep moving, never give up and hold your head high. This is our motto for the next week as we venture into November…my favorite month of the year!!

Hearing and Speech Therapy

Jules is now 16 months. She has made so much progress and we are so proud of her. We love finding her in various places like half under the couch and giggling while doing it.

Today we endured two appointments, both were follow ups for hearing and speech. First, we had Juleyana's hearing. The hearing test is done in a sound proof booth and we have to sit in a chair and listen to sounds made by audiologist and toys placed in the booth. Let me just say Jules does not like to sit in a chair on mommy's lap, and if she is not interested in something, she will not pay any attention to it. Once again, we have to have a repeat hearing. The first test was done a month ago, and she responded to the loud sounds; this test she responded to her name in low tones, but not the loud sounds. As her mother, I don't believe we have a problem with hearing at all, I do believe it is a sensory issue, but just to be sure we will keep on it.

Our second appointment today was for speech. We already know she is behind and that makes perfect sense with her MRI results . The motor planning it takes to speak and move sounds isn't quite developed as it should be. (the neurologist anticipated this) We see her getting frustrated because she knows what she wants, but can't express it; however, now that she is moving around by crawling she can get what she wants and is a happier girl. With that being said we are being referred for speech therapy 1X/week! We will also see about receiving services at home through regional for speech. She has been babbling a lot more in the last few weeks and making  more sounds than ever before.

15 Months

After only 4 months of therapy 2 days a week (we just increased to 6 days), and working with Juleyana at home we are so very excited to say that she is crawling. It isn't yet the typical crawl (she will be soon), but she is getting around on all fours. She sometimes will do this bunny hop scoop with her legs and move forward. Now that she can move to reach what she desires, she is a happier baby. She has also started to move to our ottoman and pull herself up to high knees. Being on high knees is very difficult, it takes a lot of core strength and quad control. We are so very happy to announce this progress.

Therapy Update

We currently have a schedule packed with everyday therapy activities. Juleyana has physical therapy 2 times a week, occupational therapy 2 times a week. And we just started inland regional services. They come to our house 2 times a week for therapy. That is a total of 6 therapy sessions in 5 days (actually 4 days, we have Fridays off as of right now). We are one busy family and we still try to keep our older children in sports, and they are in school as well. Juleyana has made great progress since being in therapy sessions since June of 2016, just before her 1st birthday. When we first started in June, she could sit on her own, but was very unsteady. She now sits, rolls gets up from lying on the floor to being on hands and knees. She is almost crawling and loves to pull herself to standing. We have recently turned our formal dinning room into a gym/therapy room where the kids can play and we can focus on Jules. We are so anxious to see what the rest of this year brings for our little girl.

Genetics

September 2016 we had a follow up with genetics. We had genetic testing for 1000 different genetic malformations. For this test they need Juleyana's, mine and husbands blood. We just completed this test and will have to wait 6 to 8 weeks for results.Genetics also thought that Juleyana might have a genetic disorder called Angelman Sydrome. We had the testing done for that as well and that returned normal and she does not have that syndrome. Now we will sit and wait for results and Canute our everyday life of therapy.

August 24, 2016

Our follow up with neurology for MRI. This appointment went better than we thought. Images of MRI show that structure of her brain is intact and the white matter is decreased. On a positive note Dr. Yu is very hopeful, as are we, that the white matter will continue to develop until age 3. Currently she is 14 months. Dr also believes there is no specific cause, and just something that happened during development. This abnormality explains all her motor delay in general. White matter controls all motor function from the smallest muscle coordination, such as smiling to gross motor as in crawling and walking. We have seen over the last few months that her motor planning isn't all the way there and she gets very frustrated because she knows what she wants to do, but can't physically do it. We requested her therapy to be upped to 4 times a week: 2 for physical therapy and 2 for occupational therapy. We will have a follow up MRI in 1 year.

MRI

August 4, 2016 8:30am Juleyana had her first MRI and had to be put under general anesthesia. As parents, we were so anxious for the 2hrs that it took for her MRI. It took longer than normal because they did an abdominal MRI as well. Once she was out, she did very well during recovery. I never held and squeezed her so tight while planting 10000 kisses on her. When we left they told us it could take 2 weeks for results and they would review on our next appointment (2 months out)...what!?! I work in the medical field that is a joke. MRI takes hours to read...weeks for them to decide who, when and how results would be processed. I called the following week and demanded results. I  got that dreaded call from the Neurology department. The words they spoke I can recite, "we found something on the MRI, but there is no immediate intervention. Dr Yu would like to see you sooner than September 30th we can move your appointment to August 24th." My thoughts were, first breakdown and cry, second, you can't tell me that and leave me to ponder for 2 weeks before our appointment. I told the lady get me the doctor I need explanation. Next phone call was the following Monday, Dr says they found White Matter Hypoplasia no intervention needed. I broke down in tears and fell apart. It took a few days to get it together. Everything I/we read on the Internet was horrific. So for the next few weeks, I vowed to stay off google and wait to see what experts had to say.Abdominal MRI turned out normal.

Neurology

Let me start by saying our neurology Dr has been great. Dr. Yu has been following her since January 2016. Our concerns were the seizures, but also our baby girl was behind in meeting her milestones, and was not a happy baby. She had very poor head control. She will still occasionally drop her head when she is tired or working hard during therapy. Her first electro encephalo cardiogram (EEG) in January was normal. So he further ordered a 72 hour EEG. For that, we traveled to Hollywood and back. We had to endure a long 72 hr at home with our baby girl's head wrapped up and wires hanging out the back with a backpack attached. We were also to have video recording, but that didn't pan out. The results of the 72hr EEG were....you guessed it NORMAL. No episodes during the 3 days. However, the week before she had an episode, and the week after the test she had one.
Juleyana's seizure activity is like no other. I describe it as a blank stare into space with drooling and occasional posturing without any responding to painful stimulus or verbal commands. She then would go into a twitching/jerking motion on her left side of her body. They last 5 to 10 minutes. After the seizure, she would sometimes vomit, and then be sleepy from 30min to 1 hr. This is normal post seizure activity. 

We do have video as this is the only way for doctors to see what was happening. Each of the occurrence had a 911 call and a ER visit with erratic overwhelmed mom, and dad. With each one we became, I hate to say it, more comfortable and less chaotic with the 911 call. The worst part is seeing our baby so vulnerable and us being so helpless. Her last one was June 9th 2016. At this time we decided we couldn't see our baby like this, and started her on anti seizure meds during our last ER trip. 

She was started on Keppra and that has worked wonders for her. To date June 9th has been her last seizure. We decided we would like an MRI...it wouldn't change anything, but possibly give us reasons why Juleyana was having these episodes and her motor delay. We already had her in physical therapy and occupational therapy each 1 time a week for 1 hr. This last picture is her riding in the car to have the EEG equipment removed. Thank God!

GI

GI....here we are, hoping for an answer, sitting in yet another Dr. Appointment with our 6 month old who spits up every feeding, has random staring episodes, and cries many hours of the day. GI Doc put Juleyana on the reflux med omeprazole. He also suggested and ordered a barium swallow and a PH prob, which meant we would be over night in the hospital.

February 4th was our admit date for our tests 1 week prior we had to take her off her reflux meds which worked very well for the 2 weeks she was on them. On the 6th day of being off the reflux med she had her test. Juleyana's pH prob test for 24hr came back normal no acid reflux. I laughed....it is evident my daughter has reflux, she spits up with every feeding at 7 months old.

Everyone thought we were crazy....no one had seen what we were talking about with her staring seizure like episodes. Until, she had one on the table in radiology during the barium swallow. I have never seen another nurse freak out so bad and rush us back to the floor. My thoughts were....FINALLY, someone will believe us! That evening we were sent home and put her back on reflux meds. By this time Juleyana had these seizure episodes every 2 hrs from the time we left the hospital. 5 o'clock pm the next day we were back in the ER (they wanted to bolus anti seizure meds) and ended up admitted (per my husbands request) without seizure meds. She had a CT, that was normal and her EEG was normal as well. The peds doc thought for sure she wasn't having seizures but bad reflux. They increased her reflux meds and 2 days latter we were discharged. She didn't have any episodes for 2weeks.  Now what...?

The Day Our Life Changed

December 5th 2015 our lives took a turn in a direction we never thought they would go. After a feeding, Juleyana burped and I put her to play. I had the baby in a jump saucer, she was 5 months old by this time, playing (actually let me rephrase that....screaming) as usual with her brother playing along by her side. I noticed I didn't hear her screaming as usual, when I turned to look to see what was going on I saw her with her head down and drool coming from her mouth. She wouldn't respond to me or her siblings as she usually would and stared off into space. I picked her up right away. I blew in her face and she blinked, but wouldn't respond otherwise....with my medical background it appeared she has having a petite mal (staring into space) seizure. No medical professional will ever be prepared to face the emotional roller coaster of their own child enduring a seizure. Of course we called 911 and off to the hospital we went. In ER they discovered she had a fever 101.1. They attribute the seizure to the fever, and explained that they need to do a spinal tap on our 5 month old. Many thoughts ran rampant in my mind....we debated for hours....what if it was meningitis?.....but what if it wasn't? So, we went with the spinal tap  and blood work and various other IVs. We so badly wanted to know what was going on with our baby. We left the hospital with a diagnosis of febrile seizures. We found a new pediatrician and from then on have been on the hunt for a diagnosis. We were told by her new pediatrician that if she has more than 3 febrile seizures, or one without a fever than she probably has a seizure disorder. Words no parent wants to hear.  At this first visit he also started Juleyana on omeprazole  for reflux. Well, in January she had 2 more episodes of staring, drooling and not responding...all of them happened within 1 hr after a feeding and the episodes last 5 to 10 minutes. Every episode had a call to 911, ER visit and a post visit to her pediatrician.  He told us what he thought and referred us to the pediatric neurologist. We came with what we thought....Sandifer Syndrome. It made sense, she has the unusual staring seizure episodes after a feeding. Not every feeding though, they happened randomly, and she still spit up more than usual. The pediatrician also referred us to the GastroIntestinal (GI) as well....I would post video, but at this time it is still hard for us and most to watch.

History of life thus far

June 23 2015 our baby girl was born, we named her Juleyana Joy. We loved her from the moment we knew she was growing in the womb. Labor was smooth, and without complications. Pregnancy was as well, with the exception of a Echogenic focus on her heart (which turned out to be nothing, very common). She was happy and healthy.At 2 months of age we took our baby for her check up, and to voice my concerns. I told our pediatrician that there was something wrong with my baby. She screams bloody murder every time I put her down and all day long. They said she had reflux, and gave us Zantac. We did that for awhile with no success. By this time, we noticed that she was spitting up every feeding more than usual, and continued to cry a lot like she was in pain. We continued to deal with it and loved our baby girl unconditionally. We thought with time she would get better, but that lasted almost 1 year. We did notice that she wasn't smiling as her older siblings did by this age, but we of course attribute it to her being so unhappy all the time. She also had poor head control (dropped her head) and arched her back with feedings. We continued to thing everything would be okay; we have 2 older kids age 4 and 3. We made it with them we can do it with this one. Everyday life is trial and error. Trying to figure out what we can to to make her happy.

Welcome

Welcome to The Joy of Jules! The story and progress of our baby girl Juleyana Joy. A place to love, laugh and cry at our crazy journey through life. I am a mother of 3 beautiful children, a wife to a hard working husband, and a Registered Nurse when time allows. Here we invite family and friends to keep up on our daily life, and the progress of our youngest daughter Juleyana.