"It's just Julia"

Julia has been very busy this summer, with three to five doctor appointments weekly. Julia has PT weekly, OT 2 times per month, DI, and Family Training. She also started Feeding Therapy every other week. The recurring quote I have heard all summer when anything new arises is "I don't know, it's just Julia". Her doctors, specialists and therapists have all been stumped by Julia lately. She is a one of a kind, special little girl. Julia is fearfully and wonderfully made, God has a mighty plan for her life.

On July 7th, Julia went to CHOP to see the allergist. He told me that he had never heard of dystonia and he said Julia was very "rashy". He said she has hives, eczema and atopic dermatitis. He did not give any real diagnosis of why she is having these allergic reactions, only tips on what to avoid on the future. So again, "it's just Julia".

                                     Hives on Julia's face

 Atopic dermatitis on Julia's leg

Eczema on Julia's legs

On Wednesday July 9th we went to CHOP to see the metabolic doctor and genetic counselor. The metabolic doctor told me that she wants Julia to see a cardio specialist in the Exton, PA branch of CHOP. Julia has to see a cardiologist because they think she may have something called "Dysautonomia" (a.k.a. Autonomic Dysfunction), which is a dysfunction in the part of the nervous system that controls heart rate, blood pressure, body temperature, and digestion. This makes sense, as Julia's body often has a difficult time regulating her internal temperature. If I give her a bath, her temperature can suddenly drop to 96.0. If she is outside on a warm day her temperature can just as suddenly go up to 101.0. Frequently her lips are purple and her hands and feet are beet red. The cardiologist will perform a detailed EKG and echocardiogram of her heart. The Exton office, which is about 1.5 hours away from us, has the only cardiologists in the entire region that specialize in juvenile dysautonomia. Because of this. they are booked up for 6 months in advance. Luckily however they did have a cancellation and can squeeze Julia in sooner. Can you guess what day her appointment is.....of course it's on her birthday, September 15th. That is just the way Julia's life is, with almost daily visits to doctors, therapists and specialists.

Julia's purple hands

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Julia's Red Feet

 Julia's Purple Lips

Please continue to keep Julia in your prayers!  She is such a tough and strong little girl.

New AFO's (foot braces)

On Friday May 25th, Julia's orthopedic doctor came to the house and fitted her for new AFO's.  AFO stands for "Ankle-Foot Orthosis".  It is so great that Orthologix comes to the house to mold and fit Julia for her AFO's.  If anyone ever needs someone for braces I highly recommend Orthologix, they are great.  Julia wanted hot pink with hearts for her new braces. It is amazing how much Julia has grown since her last pair of braces.  Mr. Gregg from Orthologix said in October when she was fitted for her first pair of braces that Julia was 29 lbs, now she is 36 lbs.  Julia has grown a lot taller and her feet have gotten a lot bigger since October.

Mr. Gregg made Julia's AFO's a little different this time and he curved out the back of Julia's braces a little. He did this to help her bring her knees up when walking.  Julia wears the braces to help her with her foot drop.  Foot drop is a gait abnormality in which the dropping of the forefoot happens due to weakness.  Julia's dystonia causes Julia to have foot drop and the AFO's really help Julia pick up her toes and not drag them on the ground.  

Shoes are a huge issue for Julia when she wears her AFO's.  For some reason, Julia's right ankle is very high.  It is very challenging to find shoes that can properly fit with her AFO's on her feet.  So far, I have found only 1 pair of hot pink sparkly shoes to fit with them.  Julia loves her new shoes and we hope we can find more shoes to fit with her braces.  

Julia is all Smiles with her New AFO's.

Welcome to the Journey of Julia Kate

This blog is dedicated to raising awareness about Dystonia and to aid in Julia's increasing medical expenses.

Julia was born in September 2011 with severe jaundice that lasted for several weeks, requiring UV phototherapy.

 As she grew older she had recurring bouts of bronchitis between the ages of four and six months, and was diagnosed with reflux and asthma. In January and February 2013 she experienced very high fevers and frequent facial hypoxia.  

At that point doctors were unsure of a diagnosis.  A short time later, on March 29, 2013, she suffered her first full body seizure.  For several months afterward she experienced mini-seizures involving uncontrolled eye movements and episodes of “spacing out”.   

To help pinpoint her difficult diagnosis Julia had to undergo several uncomfortable and expensive medical tests at the Children’s Hospital of Philadelphia (CHOP), including an EEG, Echo cardiogram, MRI, Spinal Tap, and Gentic testing. 

On May 21, 2013 she was officially diagnosed with dystonia, a rare degenerative muscular disorder in children.  Julia’s dystonia will require her to have continual physical, occupational, and developmental therapy. She recently received her first pair of ankle-foot orthoses (AFO's) which help brace and control the position and motion of her ankles. Julia's right foot only has 10% range of motion while her left foot has 25%.  Also, her right leg and foot are much weaker than her left, and as a result she has trouble staying upright without support. Her dystonia also makes her muscles fatigue at a much faster rate than other children, so she has trouble walking and keeping up with everyone else.  In December she is going to CHOP to be fitted for a medical stroller.

Despite her disability, Julia has an incredible smile and unbreakable spirit. 

She loves her baby dolls 

Julia loves her Big Brother Josh.

Medical Stroller is Here

We would like to thank everyone who came out to Julia's Benefit Dinner in January or donated to help Julia get her medical stroller.  Julia chose purple for her medical stroller, which she will have for the next three years.  The stroller is also Transport -Ready, which means Julia can be strapped in her stroller and go on a bus if she needs to for school.  It is going to help her to be able to do so much more than she can presently do.  For example, this weekend our family was on the Ocean City Boardwalk for the CF and than the MS walks.  Julia doesn't really like to walk much when we are out and about, so the stroller is perfect for her.  She rode in her stroller all day Saturday and Sunday and it was such a blessing so Mommy didn't have to carry her.  Julia's Mema made her a bag for the stroller to keep her stuff in, now we just need to get a cup holder and a sun shade for it.

 Julia picking up her Medical Stroller at CHOP.

Julia and her baby going for a walk outside at CHOP.

  Julia enjoying some ice cream on the boardwalk while strolling in her stroller.

Julia is going to Preschool

It has been awhile since I have blogged and a lot of things have changed.  On March 15th, Julia turned 2 1/2 and is getting so big.  I took her to the doctor for her well check-up and she is now off the chart for her height. She is out-growing her AFO's that she got in October and will be fitted for new ones in the next few weeks.

Since August 2013, Julia has been in the Early Intervention program.  She currently receives PT, OT, DI and Mommy and Julia receive Family Training each month.  When a child reaches three years, they age out of the program.  On Monday April 14, 2014, we had a TPC meeting at our house.  The TPC meeting includes Julia's case manager, her DI therapist, Occupational Therapist, Physical Therapist and two members of the Child Study Team.  We had a meeting to discuss what the plans with be for Julia in September when she turns three. ( I can't believe my baby will be three.)  Our district does not have a preschool or any programs for disabled children.  Therefore, if a child requires services our district has to find a school that can meet the child's needs.  I was told before the meeting that it was going to be tough and the school child's study team can turn Julia down.  Therefore, I did my homework.  I brought videos, pictures, information about Julia and Dystonia to the meeting.  I am sure most of you reading this blog have never heard of Dystonia before Julia.  Well, Dystonia is real and it effects Julia everyday.  She may look like a normal healthy 2 1/2 year old but looks can be very deceiving.  After, I shared all the videos, pictures and information with the Team they told me that she was APPROVED for Preschool in September.  Well, you may ask what does this mean?  It means that after Julia's third birthday she will be getting on a van or bus everyday and going to preschool for two hours a day.  She will get all her therapy in school, get to met new friends and be in a school environment to learn.  During the Summer, the Child Study Team, Julia and Mommy will go look at a few schools.  I am so happy that Julia got accepted into the program.  Now, I am going to miss her so much.  She is my shadow and it will be so hard not having her with me all day long and having someone else caring for her. However, I know it is best for her.  I am sure the first day of school there will be lots of tears between both of us.

Therapy at home

We have GREAT news this week, Julia started Physical Therapy at home.  Julia has been traveling to Weisman Rehab (one hour each way) for PT.  Julia has been on the waiting list for the Early Intervention program for four months.  Julia will now be receiving eight therapy sessions per month at home. She will be getting Physical Therapy, Occupational Therapy, Developmental Therapy and Family Training with Mommy.

Julia sitting in her new therapy room and Loving it!

My husband and I have turned out basement into a therapy room for Julia.  For her Physical Therapy we have tunnels, tents, therapy balls, trampoline, bean bags and a therapy bike.

Julia going through the tunnel.

Julia on her little Therapy Ball.

Julia jumping on the trampoline.

Julia in her tent.

For OT we have puzzles, lacing activities, paints, coloring books, crayons, markers and we will be working on sensory things as well.  I would love to get her an indoor water/sand table.

Cat Scan

Thank you to everyone that has been praying for Julia lately.  We have felt the prayers and greatly appreciate them.  On January 13, 2014, Julia had a spinal MRI done and the report came back that Julia's hips are asymmetrical, they couldn't find her left ovary, and there was an unusual fat accumulation near her colon.  Therefore, CHOP recommended Julia get an ultrasound done on her pelvic region and stomach.  The Ultrasound was very unclear and the doctors could not see anything conclusive.  Therefore, Julia's Pediatrician decided that a CAT scan would be the best way to go, to get a clearer picture.  Julia's doctor really didn't want to put her under another test since she has been through so many in the past nine months such as a brain MRI, Spinal MRI, Lumbar Puncture, EEG, ultrasound and now a CAT scan. The doctor called me today and the results came back and everything is ok for now.  Thank you so much for your prayers.

Yesterday I was trying to prepare Julia for the CAT scan. I told her that she was going to have a CAT scan done because the doctor wanted pictures of her belly.  Well, all Julia understood in that was the word "CAT".  For those of you who don't know Julia well, she is scared to death of cats for some reason.  She said they are going to put a cat on my belly.  My son and I just cracked up laughing.  Julia's face was priceless.

Today on the way to get the CAT scan done, Julia and her brother asked to listen to their music in the car.  The kids are in the back seat singing away.  Then Julia says, " Mommy, I am strong and I am not going to cry".  She knew she was going in for a test and it was going to be a challenge but she was going to be strong and brave.  I love my little girl so much, she is so strong.  No matter what you are facing in your life just remember God is with you.  

Here is the song that my kids love and was playing in the car on the way to get Julia's CAT scan today.

http://www.youtube.com/watch?v=iKZ94ztlJ-s

Therapy update and Valentine's Day

Julia was approved for Physical Therapy in August 2013 and was receiving PT in our home until October 2013.  However, at the end of October Julia's PT left Early Intervention and Julia's PT stopped.   Julia's Dr and Early Intervention team recommended that Julia continue PT.  At the time, there were no PT available in our area so once a week Julia was scheduled to go to Washington Twp, an hour away for PT.  On Friday morning, I received a phone call that Julia will be receiving PT in our home through Early Intervention 1x a week.  Praise God, that is a huge help for Mommy.  Julia will now be receiving therapy 8x a month in our home.  The therapy that Julia receives are PT, OT, Developmental therapy and Family Traning each month.

Julia had fun making and sending Valentines cards this year.  

Mommy and Julia worked on OT Sensory stuff and made some Valentine's pictures.

Julia hopes everyone had a good Valentine's and is sending you her love.

CHOP MRI

Julia had an MRI on her spine at CHOP on Tuesday January 27, 2014.  Julia couldn't have anything to eat after midnight the night before so she was very hungry by the time we arrived at CHOP at 11:30 for her MRI.  When he arrived at CHOP the volunteers came around and gave Julia a Lightening Mcqueen coloring activity.  Than when Mommy was getting her visitors badge, the 2 kind ladies there gave Julia a big purple balloon.  Purple is Julia's favorite color and purple seemed to be the color of the day for her.  Julia wear a purple Minnie Skirt outfit to the hospital, than she got a purple balloon.  The nurses put Julia in the purple room and she also wore purple Pj's in the hospital.  It was quite a "purple day" for Julia.

Julia doing so well getting her blood pressure checked.

Julia  and Molly dressed and ready for sedation.

Wisher and Dreamers made the hospital gown for "Holly"

Julia is such a trooper.

Mommy little superhero.  Julia came out of sedation very rough.  This is Julia's 3rd sedation in 8 months and she came out of this one the hardest.  Julia couldn't take her medicine all day which caused her to have "dystonic storms".  Julia's MRI results came in and she needs to get an pelvic ultrasound this week to check on something.  Please keep Julia in your prayers.

 

My joy!

Julia's laugh is so contagious, she can brighten anyone's day. Julia can fill a room with such joy and love.  Julia has been through so much in the past 11 months and still smiles through it.  She has taught our family so much.  

  

Julia's new Blanket

Thank you for everyone who has donated to Julia's Medical fund and also everyone who came out to Julia's benefit dinner.  One of Julia's therapist highly recommended that we buy Julia a weighted blanket.  You might say, what is a weighted blanket.  Well, a weighted blanket is a blanket that is filled with poly pellets and weighs 5lbs.  The blanket will help add  deep pressure to Julia's body and especially her legs.  The Dystonia makes Julia's legs spasm, which causes her legs to hurt especially at night.  Have you ever had a charlie horse?  Well Julia's spasms are worse than a charlie horse and very painful. Here is an example of what dystonia does to Julia's muscles.

When we purchased Julia's weighted blanket, we also received a FREE Weighted vest. Julia receives Occupational Therapy 2x a month for her sensory issues.  The vest can be filled with weight, beans, poly pellets or anything to help Julia get the deep pressure that her body needs.

                                 Julia loves her new Princess Weighted Blanket.

Julia taking a nap with her blanket.

CHOP visit 1-13-14

Julia went to CHOP hospital to see her Movement Doctor on January 13th . The Dr said Julia looks good and her height is 36 3/4'' and 32 lbs.  The Dr would like to increase Julia's current medication to a higher dosage and 3x a day. The Dr also requested some more blood work.  Julia cried while getting her blood drawn. Than the nurse gave Julia a band-aid and also 2 for her babies, she is such a tough little girl.

Julia's Dr has also requested a MRI of her spine, an Exome sequencing testing and a urine sample.

Julia was exhausted after a long day at CHOP.

Julia's Benefit Dinner

Julia's benefit dinner on Friday January 10, 2014 was a Success.  Thank you to all the business who donated items for the Chinese Auction and the bakeries for the yummy baked goods.  Also, thank you to everyone who attended Julia's Benefit dinner.  We hope everyone who came out, had a great time.

Julia ready for her Special Dinner

 Thank you Acme for donating the cake, Century Bakery for donating the sampler pastries,  Little Mama's Cafe for donating the cupcakes and Lindsay Cassidy Cookies for donating the Dystonia cookies.

 Dystonia cookies made by Lindsay Cassidy Cookies

 Cake donated by Acme

Thank you DJ Will Mosley for doing an awesome job.

Julia had a great night dancing

(even though her legs and feet hurt)

The TV Raffle 50'' Flat Screen TV 

Thank you to Edwards Events and Entertainment for doing caricatures.