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!