Oh My Summer!!!

Greetings!
Here we are,  halfway through 2017! We have had a very, very busy couple of months. So busy that I don't even know where to start!

In June, we took a family vacation to Mammoth Mountain. We camped in a trailer, with no hookups for a whole week! What an amazing experience, to leave the craziness and have peace, relaxation and of course, fun! The kids loved being outdoors fishing, seeing wild animals and getting dirty! 
Well, all good things mustcome to an end! We received a call mid-way through our vacation. Our house had 3.5 inches of water throughout the entire place!!! We debated returning early to deal with the mess, but we decided to make some phone calls and with the help of family, we were able to stay and try to enjoy the rest of our trip.

 We returned home to a complete disaster. All of our belongings were scattered, boxed and sent away to be restored from water damage. Our walls were ripped apart and 100 fans were buzzing in our house.  We are currently living with family because our home is completely gutted. On the flip side, we get to remodel our house that is less than 10 years old. They hope to have it completed by the end of October. Keeping our fingers crossed!

With all the madness going on, our baby girl has been doing some amazing things! Juleyana turned two on June 23rd and has been enjoying every second of being a big girl! She is babbling more, and has begun to walk by pushing her shopping cart that she got for her birthday. She is squatting while holding on with one hand and continues to crawl long distances at rapid pace! She loves to stand and walk with her brother and sister too! She continues to be the light of our lives and amazes us everyday. :) 

 Our two older children started school July 11th. We now have a first grader and kindergartener! Its been tough as we are living 20 minutes away from school. If you didn't know, we walk to school from our home!  We continue Juleyana's busy therapy schedule as well. We are one busy family! This summer has been full of fun, crazy and no sleep for momma or daddy!

 

Lastly, we had a follow up with Dr. Yu, Juleyana's neurologist.  He is thrilled with her progress! We will be scheduling a follow up MRI and MRS for her within the year. Also, on the agenda is to do a spinal tap to see how much protein she is actually converting from asparagine to glutamate, in hopes to guide us for the future. We are praying for positive results!

Bee Buzz
Weight 21.5lbs
Height 2'9"
Head 43.2cm
Loves her baths

Walking with shopping  cart or in her gait trainer

Babbles back and forth in conversation
Drinks from her sippy cup with a straw

Says "Momma" & "Dada" among a couple other words.
Loves her avocados and cottage cheese!

S.O.S.!

Greetings all!
This past week has been rough in the Guadagnolo home! Last Tuesday was the beginning of our family melt down. Juleyana had a grand mal (the jerking type) seizure that afternoon. Just when we thought we we were doing so good and seizure free for 11 months.... BOOM! The bomb went off.

It turns out that she had a sudden spike in temperature, an ear infection and caught the horrid stomach bug that has been plaguing around us. We were taken care of in the ER with some fluids, antibiotics and a dose of anti seizure medication.
Watching your child in a seizure state is horrible.  I was so upset because we had almost made it a year with no episodes. However,  learning the cause of this seizure gave us a little peace of mind as it was not related to her condition. It still doesn't take away the pain and heartache is causes to all of our family.

Our oldest daughter also caught the bug and began vomiting while we were in the ER (Fortunately for us, she was home). This was just an hour before her playoff soccer match. She was so upset she couldn't be there to help her team. Lo and behold, our son also caught it that night. Sigh!

Jaylene bounced back fairly quickly, but Juleyana took a hit and wouldn't eat or drink very much for the next couple of days. We did everything we could to keep her hydrated, and it worked. We had a couple of visits to urgent care, one Friday to make sure she wasn't dehydrated and one on Mother's day because she started vomiting on Saturday night. Oh, did I mention that on Friday night I caught the stomach bug and was out for 3 days (I did my best to still care for my babies)?!

Mother's Day, my wonderful husband cleaned the house and we sprayed lysol everywhere Monday morning to kill all the germs! I think we kicked it to the curb because (thankfully) everyone is back to normal!
On a better note, we had our follow up appointment with our metabolic geneticists, Dr. Vats.
We received results of the studies that were sent to the Mayo clinic. Those returned to be normal! Juleyana was such a happy and playful little girl at her appointment. Dr. Vats loved her and was pleased with her progress. We will continue our everyday schedule and hope to have her MRI in August! We will also have a follow up with her neurologist next month.
Today, Dylan graduates from preschool! He has really grown a lot this school year and we are excited to see what Kindergarten will bring! I'm just excited to have our two oldest at the same school! Life will be easier now, not by much, but easier! I'm also happy about this because it will give me more one on one time with my Jules! Should be a special year! :)


Bee Buzz
Weight 20.21lb (lost a tad with being sick)
Head 42cm
Length 34in
Loves clapping and to sign "more" and is starting to sign "all done."
She is using her gait trainer to help with walking independently.
She babbling more
Loves to hop on her knees!
Continues to loves her "cados" (avocados)
Loves to kiss and sometimes waives "hi!"
She is determined more than ever!

Baby Steps

April is almost over!! Hope you all had a blessed Easter! Can you believe that in just over a month our baby girl will be 2?! How can this be?

Many of you may (or may not) know that Juleyana has been trying to stand on anything and everything. She travels along the couch, her crib and pack and play at home and outside. She has even pulled off the pants of her sister trying to stand up, using her as leverage! 

Unfortunately, all the push toys are light weight and not made for a child of her height, so they either fall over or she has improper body alignment while using them. We resorted to putting a weight in the push stroller so it doesn't tip over when she stands.
Yesterday we were supposed to have a gait trainer (type of walker) delivered to use while we figure out which device would work best for her. Unfortunately, I received a phone call in the morning saying it wouldn't be delivered and I would have to reschedule for next week. I thought, great! Here we go, delayed and we will probably never get it.  So, we set out on a mission to get this device. I asked to pick up the gait trainer myself. We were told that was fine, but then got another phone call demanding that we must bring a letter from Juleyana's  pediatrician saying she is cleared to walk with this device....seriously?!! We have Kaiser and it is usually a process to get a letter or talk to a Doctor, unless you have an appointment. Again, I was on a mission and I had faith that we would get what we needed (and wanted to badly!). Doctor Horan (her pediatrician) is amazing. We emailed and called and to my surprise, he emailed back right away and said to come by his office! Within 2 hours we had our letter. After therapy we picked up papa, brother and sister and headed to San Bernardino Inland Regional Center. We provided our paperwork  and into the car went our loaner gait trainor!!! Woooohooooo! It was a long day worth all the driving, emails, phone calls and jumping through hoops. When we got home, I cleaned the mother out of the thing, using a whole spray can of lysol and made it sparkling clean!

Today we brought it to therapy for fitting and to give it a roll. It is a smidgen big and she wasn't too thrilled, but little by little she will be all over the place! I'm so happy to see my determined little girl climbing mountains with baby steps! Can't wait until I can update you all with a video of her walking with her gait trainor! Take care and Happy Friday!

It's Spring!!

Hello and Happy Spring!
Life has been full of chaos and bliss (Is that even possible?), hence the long delay in writing an update! Can you believe our precious Jules is 21 months old?! Time flies when you're busy as a bee, conquering therapy goals and of course, having lots of fun in between!
Life is such a blur some days. Sometimes, I find myself stuck in 2015, on that cold December day when our baby had her first seizure. Why though?  Why do I always go back? Is it anxiety? Fear of going back down that long, dark road? Or is it a reminder of how much she has accomplished? I'll go with the latter!

SHE has come so far since then. We have worked so hard for HER and with HER over the last year and a half. SHE is our top priority and SHE, in return, has given us so much hope, joy, love and PROGRESS! My hubby jokes that PROGRESS is HER middle name!!
Today at therapy, I held a dear friends precious baby boy in my arms as he had a seizure/episode of infantile spasms. I had a roller coaster of emotions and this numb feeling entered my body. As I held this sweet 8 month old boy, I couldn't help but track back to the days before Juleyana was started on anti seizures meds. It was a traumatizing time in our life and I  am so glad we haven't experienced it since. This sweet boy's mom is working on getting his seizures under control, and I hope they get relief soon.

RARE GENE DAY 2017

Jules may be our top priority, but brother and sister are just as important. My husband and I try our hardest to keep life in all of our kids. Yes, Jules needs some extra TLC, but we don't let that interfere with our oldest two, simply being kids.
Jaylene started recreation soccer a few weeks ago. Recently, a club team has had an eye on her also. Needless to say, we signed her up! Why two teams? Because she loves it! She is busy with practice four days a week and games on weekends. She continues to excel in school. She is the master of sight words and received a Reagan reward, among many others.
Dylan is playing t-ball for the Boston Redsox! He gets better everyday and is quick to scoop up grounders! He also enjoys riding his bike with no training wheels! Dylan is doing very well in preschool, passing all of his tests at rapid speed.
Back to Jules. At this moment we are still waiting for results from the Mayo Clinic for her Urine and blood tests. I will update the blog with results as soon as we get them.
Last week we had our 6 month progress/evaluation report from Inland Regional Center. Let me start by saying, I cannot believe how time has flown by. Six months already! Are you kidding! Our progress report shows that Juleyana has met some of her goals (sitting stable on her own, transitions from sitting to quad, and crawling for 5 feet or more) and continues to develop the others. We will have another evaluation/meeting when she is 2 years old.

We were also notified that at 3 years old she will go into the school system. This makes me very nervous, but I have heard nothing but good things from those who are currently in or have been in the program. This will be a trying time for me (Jules too) as we don't do well apart. However, I will always do what is best for my baby girl. I want her to constantly progress and smash goals for the rest of her life.
We are still currently getting two home therapy sessions per week and five therapy sessions at Jump and Schout, per week. Between the seven sessions, Jules receives occupational therapy, physical therapy and speech therapy.

Therapy Update
We are still continuing our rigid therapy schedule. She has recently started to stand with only holding on with one hand, and sometimes she gets brave and lets go.
Juleyana's physical therapist is looking to get AFOS (leg braces) for her pronation (feet roll in when standing -though not a whole lot). Having her wear shoes has been helping  a lot. She is also considering a walker to transition to walking. We all know and have high hopes that Juleyana will be walking with or without the help of a walker.

We have found that Juleyana uses clapping to sign the word more. She can't physically do the sign for "more" due to her fine motor delay, but we continue to work with her each day.
As always, thank you for reading and for your support in our little girls journey.

Bee Buzz
•Weight: 21lb 9oz
•Head: 41.5oz
•Length: 34in
•She is no longer on a bottle. She drinks from a straw sippy cup.
BIG GIRL!
•She has increased her diet, though we still give her 2 pediasure shakes a day.
•Still loves her avocados!
•Loves to be chased and get rowdy!
•Enjoys being outside in the sun and fresh air.
•Loves to be in the water, kicking and splashing water everywhere!
•Juleyana continues to progress, provides tons of kisses and love and be amazing!

Keep a look out for our next update!

Metabolic Geneticists

UPDATE:

January 23, 2017
Our alarm sang at 4am! We set out on a cold, rainy morning and headed for a two hour drive to Kaiser LA. Nothing like driving to LA with morning traffic, right?!  Well, the freeways surprised us and we arrived an hour early to Juleyana's  appointment!
We met with the Metabolic Geneticist, Dr. Vats, the man who wears white socks with trousers. :) Despite the socks, my husband and I were very impressed. He sat with us for a long while, discussing the genetic process of the disorder Asparagine Synthetase Deficiency on the ASNS gene, potential treatments and the possible outcomes of the disorder.
He confirmed my thoughts and this is a spectrum disorder. This means, not every child diagnosed will display/have signs or symptoms of this disorder. That being said, this disorder affects the brain growth and development. Luckily for us Juleyana's  brain structures are intact. Her white matter is decreased, but we are hopeful that it will continue to develop, even if at a slower pace.
Dr. Vats has many ideas floating around that could possibly work with Juleyana. Long story short, based on his recommendations we will do a spinal tap to see how much of the protein asparagine Juleyana produces. This will be done with her follow up MRI in August of this year. Along with that, he recommends doing a MRS which scans the levels of chemical components within the brain.
Another recommendation was to do frequent feedings and try to keep her from fasting (not eating for long periods). This should be fun and interesting as lately she has just wanted avocado and cottage cheese!! She refuses to drink Juice, but if it is plain water she sucks the sippy cup right down!
With the August 2017 results, we will also be ruling out any other possible causes of the decreased white matter of the brain. And, as with every other doctor we have seen, he is amazed at the progress that Juleyana has made and believes/is hopeful that she will continue to progress. Dr. Vats also confirmed that Jules is the ONLY case diagnosed within all of the Kaiser system. We picked his brain in regards to this genetic disorder being underdiagnosed/misdiagnosed and he agreed.
We are anxious for our August results!

Happy New Year

Happy New Year to you! We are so very excited to see what this year will bring for Jules and our family. I wanted to give a little update on how 2017 is going thus far! Well, we started the year off with a bang! We are back to our intense therapy schedule, Jaylene and Dylan are back to school and start soccer and baseball soon and my husband just works too much! Our life is beautifully chaotic and I cherish it!

So, we all know that Juleyana loves to put EVERYTHING in her mouth. We found out that clear, scotch tape is hard to see in an 18 month old's throat. Yes, I said tape!! Juleyana had a 1.5 inch piece of tape stuck in her throat which we discovered on January 2nd.

 The story goes... January 1st, later in the evening, Juleyana began to cough and seemed to be gagging on her mucous (gross I know, but that's what it seemed like). We looked to see if she was choking on something but couldn't see a thing. This momma didn't want to take her to urgent care at 8pm (because that place has the worst germs around), so we waited until the next morning when the situation got worse.

 She woke up January 2nd coughing, chewing and gagging even more. (Note: she slept on momma all night long so I could keep a close eye on her). I decided to rush her to urgent care.  There, the doctor put her in an intubation position, used the light and tongue depressor just to check her throat for strep or something. He found the tape way back and into her throat. Let me tell you, this was so embarrassing as a mother and nurse, but the doctor assured me that we wouldn't have seen it without the tongue depressor.  My first thought though was thank god we had the outcome we did, the tape could have blocked her airway and we would be in a different situation. So, a big thank you holiday season, for the over abundance of tape laying around!!! 

She is now back to normal, no cough and happy as usual. Big sister was doing a project with tape by the way and NO, it was not hers nor anyone's fault for this incident. Just another keep us on our toes kind of moment!

We also have had a couple of appointments.

January 17th we had an eye appointment to see the optomologist. This is one of the first appointments in a year where we walked out with a smile our faces! Juleyana's eyes are in great shape! No structure problems, and retina intact. "Beautiful eyes," he said. "And I can't sell you glasses." Phew! We will test her actual vision at a later time.

January 17th we also had a Neurology follow up with Dr. Yu. This appointment also went well. Dr. Yu is a man of few words, straight to the point, spot on and good at what he does. He assured us that she is doing very well and we are doing everything right at this time. We will have a follow up MRI in August of this year to compare with her first MRI. We will continue anti seizure meds at this time and pray they continue working so well. It often happens that anti seizure meds have to be changed due to the lack of success with preventing seizure activity. We will have another neurology follow up 4 months from now.

.

.BEE BUZZ.

-Weighs 20.10lbs

-Pulling to stand and cruising along the couch

-Gives sweet kisses

-Loves her bath at 6:30pm

Sometimes life doesn't always turn out as we expected, but when we open our hearts we find joy in the gifts we have been given. Our dark room begins to shine a bright light from within, and guide us to the most beautiful destiny. 

When I look at our baby girl, each smile brings me joy, each tender kiss melts my heart, and every gain towards progress makes me proud. "This little light of mine, I'm gonna let it shine!" To a happy and healthy 2017! 

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!