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...?