Monday, November 10, 2014

Spina Bifida, Myelomeningocele

Overview:
Bifida is the most common permanently disabling birth defect in the United States. Spina Bifida literally means “split spine.” Spina Bifida happens when a baby is in the womb and the spinal column does not close all of the way.

Myelomeningocele is the most severe form of Spina Bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities.

Symptoms:
Seventy to ninety percent of children with this condition also have too much fluid on their brains, Hydrocephalus. Children and young adults with Spina Bifida can have mental and social problems. They also can have problems with walking and getting around or going to the bathroom, latex allergy, obesity, skin breakdown, gastrointestinal disorders, learning disabilities, depression, tendonitis and sexual issues. Many also have symptoms associated with Spina Bifida due to a Chiari Malformation Type 2 in the brain. The Chiari Malformation can cause problems with breathing and eating.

Testing/Diagnosis:
Testing for Spina Bifida is done during pregnancy through a blood test. If indicators from the test show an increased risk, follow up and confirmation of the diagnosis is often done through an ultrasound.

Treatment:
A child with Meningomyelocele usually is operated on within two to three days of birth. This prevents infections and helps save the spinal cord from more damage. Most children will also require surgery to install a VP shunt in the brain to allow drainage of the excess cerebral spinal fluid.

Resources:
Spina Bifida Association

Personal Story:

Our daughter, Victoria, was born in July 2013 with a disabling condition, Spina Bifida. When she was born she had a hole in the lower section of her spine which damaged the nerves leading to the lower half of her body. She has limited movement in her feet and legs, and a condition called neurogenic bowels/ bladder. She requires urinary catheters throughout the day to prevent permanent damage to her bladder and kidneys.

Victoria also has hydrocephalus, which means she has too much fluid in her brain and spine. She had surgery to install a VP shunt when she was only three days old, and multiple revisions since, which drains the excess fluid from her brain into her abdomen and prevents further brain damage.

In addition, Victoria has what is called an Arnold Chiari Malformation Type 2 in the back section of her brain. The Chiari is where a part of the brain is pulled down from the skull into the spinal cord, and it damaged nerves in the brain, particularly those associated with breathing, swallowing, vocal cords, gag reflex, and the muscles around her trachea. As a result of this Chiari malformation, Victoria was born with tracheomalacia (floppy airway), bilateral paralyzed vocal cords, central apnea, and she had no swallow/ gag reflex. Because of her apnea, Victoria had a tracheostomy and has been on a ventilator since she was born.

A few weeks after her tracheostomy, she had a G-tube surgery along with a Nissen/ Fundoplication which allows us to feed her through a tube inserted directly into her stomach.

To relieve the pressure in Victoria’s brain stem, Neurosurgeon’s at CHLA performed a decompression surgery to remove a section of her skull and the back section of her top vertebrae. This procedure has allowed her to improve her breathing, her right vocal cord is no longer paralyzed, and she has regained some swallow and gag reflex, although they are still very weak.

Shortly after the G-tube surgery, Victoria started to show new symptoms that she had never exhibited before. She began to have high blood pressures and very low blood sugars. She was diagnosed as hypertensive and several months later diagnosed as having congenital hyperinsulinemia/ hypoglycemia.

The endocrinology team at CHLA started her on a drug combination to regulate her blood sugars, and placed her on a continuous 24/7 feeding pump. After just a week of this treatment it became obvious that Victoria was not tolerating this treatment, and we decided to reverse course with the drug treatment. It was soon after discovered that her condition was misdiagnosed and that she had developed Dumping Syndrome as a result of the Nissen surgery. It is a complication that can happen when the vagal nerve gets damaged during the surgery.

Over all, Victoria spent the first 5.5 months of her life in the NICU at both UCLA and CHLA hospitals, during which time she had 10 surgeries and multiple code blue scares. She finally came home in January of 2014, and requires 24/7 care to keep her stable, healthy and happy. She has nursing care at home through out the night and part of the day, as well as the loving care of her mom, dad, and grandma.

She has had a few set backs and scares since her homecoming; however, she has overcome more than most people would ever have to face, and she has done it with joy and love. She is a shining light to all who meet her, whether it be in person or on the internet. She truly is VICTORIOUS over all the challenges life has given her.

Contributed by MOM Leah Broyles
For more information click HERE

Monday, September 15, 2014

22q11.2 Deletion Syndrome

Overview:
22qMissing part of Chromosome 22…can be a random genetic mutation…first in the family…or a person that has it has a 50% chance of passing it on to their children. Gives rise to a variety of symptoms, ranging in severity.

Symptoms:
Growth, heart, kidney, spine, calcium, feeding, developmental, speech, immune issues. ETC.

Testing/Diagnosis:
FISH test

Treatment:
Needs care by a variety of specialists depending on the particular symptoms (cardiologist, immunologist, speech-language pathologist, feeding therapist, geneticist, ETC).

Resources:
Seattle Children’s Hospital, Children’s Hospital of Philadelphia, ETC.

Personal Story:
Tetralogy of Fallot (Congenital Heart Defect), Speech delay/articulation issues, Aspiration of regular liquids (on thickened feeds), Tooth decay.

Contributed by MOM Alycia
For more information click here

Monday, September 8, 2014

Congenital Talipes Equinovarus (CTEV) commonly known as ”Clubfoot”

Overview:
brooklynn
Clubfoot is a relatively common birth defect, affecting 1/750 births worldwide. Clubfoot is an idiopathic condition, meaning the cause is unknown. Clubfoot, also called Congenital Talipes Equinovarus (CTEV), {C-congenital-present at birth, T-talipes-foot and ankle, E-equino-foot pointing down, V-varus-heel turning inward} is a congenital deformity involving one foot or both. Muscles, ligaments, bones and joints are affected in the developing foot and ankle. The affected foot appears to have been rotated internally at the ankle. In babies with Clubfoot, the tissues connecting the muscles to the bones are shorter than usual causing the foot to be twisted. Clubfoot affects the tendons and ligaments in not only the foot, but the calf and calf muscle as well. The ankle can be twisted at a sharp angle making the foot resemble a golf club, hence the name. The severity of Clubfoot can range from mild to severe.
Clubfoot is diagnosed at birth, or in some instances, by prenatal ultrasound. It cannot be predicted or prevented. When Clubfoot is present in both feet it is called Bilateral Clubfoot. One affected foot is called Unilateral Clubfoot.
All Clubfoot cases are not of the same severity. A Pediatric Orthopaedic Surgeon will determine the most appropriate treatment for a child. Babies suspected of having Clubfoot are referred after their newborn exam to a Pediatric Orthopaedic Surgeon. Typically, infants are seen within the first few weeks of birth and treatment will begin. Clubfoot is not painful to infants. Although parents are concerned with treatment, children are resilient. With treatment, the vast majority of patients recover completely during early childhood and are able to walk, participate in athletics, and are capable of living a normal, active life.
According to the American Academy of Orthopaedic Surgeons (AAOS), the Ponseti method, which uses manipulation and casting, is the most frequently used method in the U.S. to treat clubfoot.

Symptoms:
Muscles, ligaments, bones and joints are affected in the developing foot and ankle. The affected foot appears to have been rotated internally at the ankle. In babies with Clubfoot, the tissues connecting the muscles to the bones are shorter than usual causing the foot to be twisted. Clubfoot affects the tendons and ligaments in not only the foot, but the calf and calf muscle as well. The ankle can be twisted at a sharp angle making the foot resemble a golf club, hence the name. The severity of Clubfoot can range from mild to severe.

Testing/Diagnosis:
Clubfoot is diagnosed at birth, or in some instances, by prenatal ultrasound. It cannot be predicted or prevented. When Clubfoot is present in both feet it is called Bilateral Clubfoot. One affected foot is called Unilateral Clubfoot.
All Clubfoot cases are not of the same severity. Babies suspected of having Clubfoot are referred after their newborn exam a Pediatric Orthopaedic Surgeon. Typically, infants are seen within the first few weeks of birth and treatment will begin.

Treatment:
Dr. Ignacio Ponseti (1914-2009), Professor of Orthopaedics at the University of Iowa, pioneered his method in the 1940’s. Dr. Ponseti found that there were negative long-term after effects as a result of surgery to fix Clubfoot. He studied the anatomy and function of the human foot and he started manipulating newborns with Clubfoot differently. The Ponseti Method of treating Clubfoot is minimally invasive and over 95% effective. The Ponseti method is the standard method to treat Clubfoot worldwide.

Treatment Overview: 5 Phases
Phase 1
Correction: Gentle manipulation to align the foot in a normal position with weekly (serial) casting to allow the soft bones to set. Here, the ligaments and tendons are gently stretched. The cast extends from groin to toe. This takes place within the first few weeks of the baby being born. Casting varies from approximately 4-8 weeks.

Phase 2
Minor Surgery: Percutaneous Achilles Lengthening, also referred to as a Tenotomy, is performed. The Achilles tendon is clipped to lengthen the heel. After surgery a cast is applied and worn for 4 weeks.

Phase 3
Prevention of Relapse: After correction, a brace is necessary to prevent relapse. Braces, also known as Boots and Bars, are worn 23 hours a day (“full-time bracing”) until your baby is about 9 months old.

Phase 4
Prevention of Relapse: With doctor approval, your child will wear the braces at night time and nap time (“part-time bracing”) until they are approximately 4 years old. It is suggested to wear the braces while the child is sleeping so the child can build muscle strength by moving during the daytime.

Phase 5
Surveillance: Your child will regularly visit your doctor to monitor progression of how the legs and feet are growing.

Resources:

  • clubfoot.co.za

  • clubfootclub.org

  • community.babycenter.com/groups/a52555/clubfoot_support

  • dobbsbrace.com

  • feetfirstworldwide.com

  • footnotefilm.com

  • globalclubfoot.org

  • groups.yahoo.com/neo/groups/nosurgery4clubfoot/info

  • mdorthopaedics.com

  • miraclefeet.org

  • ponseti.info

  • steps-charity.org.uk

  • talipestogether.com


 

Facebook Groups:

  • Adults/teens with clubfoot

  • Atypical/complex club foot

  • Aussie clubfoot kids

  • Born with clubfoot (talipes equinovarus)

  • CF families, north/north west Tasmania

  • Club feet

  • Club foot Australia & world wide

  • Club foot awareness (talipes/C.T.E.V.)

  • Clubfeet Arizona

  • Clubfeet; a place for educating and supporting

  • Clubfoot and talipes UK

  • Clubfoot Australia support

  • Clubfoot awareness initiative

  • Clubfoot babies in Ontario

  • Clubfoot closet

  • Clubfoot Colorado

  • *Clubfoot community of central California

  • Clubfoot is treatable

  • Clubfoot mommas

  • Clubfoot new Zealand

  • Clubfoot online

  • Clubfoot research forum

  • Clubfoot STEPS SA

  • Clubfoot support group

  • Clubfoot UK

  • Happy feet talipes new

  • Happy feet talipes selling page

  • Parents and friends of children with clubbed feet

  • Parents with children/adult with clubfeet

  • Parents/guardians of children with club feet/foot (talipes equinovarus)

  • Ponseti method for treatment of clubfoot

  • TALIPES

  • Talipes

  • Talipes (club foot)

  • Talipes NZ

  • Talipes support group (club foot)

  • Tassie clubfoot kids

  • Thank you, dr. dobbs-clubfoot support

  • The dr Ignacio ponseti appreciation society


 

Personal Story:
Here is the newspaper article featuring my daughter, Brooklynn and myself.  The article starts on page 1 BUT it is CONTINUED ON PAGE 3.

Contributed by MOM Jill Harold

For more information click HERE

Monday, September 1, 2014

Hydrocephalus

tristanOverview:
Tristan, our Treasure, is 11 years old. She has been diagnosed with a list of things.

Symptoms:
There are many different symptoms that Tristan has had as part of all her diagnosis’.

Testing/Diagnosis:
Born with Hydrocephalus, Chronic Asthma, Pulmonary Valve Stenosis, Heart Murmur, & some other things.

Treatment:
Tristan’s had 17 surgeries.

Resources:
<a href="http://www.hydroassoc.org/">Hydrocephalus Association</a>

Personal Story:
Tristan is truly a Miracle!! She is a Fighter & will Over Come these things thru Jesus Christ!

Contributed by MOM Stacey York
For more information click HERE

Monday, May 5, 2014

Developmentally Cognitively Delayed

Overview:
9 years ago, my daughter Grace was born at 24 weeks. She was a micro-preemie. She had a tracheostomy,ventilator, oxygen, and feeing tube. Today, she is mechanically free, but does have DCD. She is in third grade, and is developmentally delayed for her age. Grace still has induced asthma at times, due to her respiratory colds.

Symptoms:
Grace was on born at 24 weeks, she had severe chronic lung disease. Being born 16 weeks prematurely, brought many health issues for our micro-preemie, along with years later, of being diagnosed with having developmental cognitive delays. Grace was very hyper and impulsive for years. She had a hard time focusing on one task at a time. Today with the work of her teachers and at home, she is doing very well, and learning how to read and do basic math skills. We have an IEP plan through the district that Today, she has an IEP plan at school, that each year we try to achieve.

Testing/Diagnosis:
For years we worked with OT, PT and speech in the home, and during her pre-school years. Between working with early intervention and the school district, we learned that Grace had Developmental Cognitive Delays. She had a learning disability which she would learn differently than most kids her age.

Treatment:
Grace learns differently at school in her special education classes. She has goals set through her IEP plan through the school district.

Resources:
Because our family endured so much, I felt compelled to share our story and how we coped through the years with my book, “Life with Grace”. htt://www.lifewithgracebook.com

Personal Story:
graceMy daughter Grace was born 16 weeks prematurely. She had Chronic Lung Disease. She also had a multiple of many other medical surgeries throughout our long 9 months that we endured in the hospital. She came home with a tracheostomy, ventilator, oxygen, and feeding tube. Today, I can happily share that she is mechanically free, and is trying to get along, just like any other third grader out there. She is surely a miracle, and has survived through some extreme circumstances. Because our family endured so much through the years, I felt compelled to share out story through my book, “Life with Grace”. It’s a resource book intended for parents of premature babies. My book is about hope, and how we managed to move forward after such a life changing experience. Grace is a true fighter, and even though she has some struggles to deal with in her daily life, she is a walking example of what a miracle is all about. My book is a way for me to say thank you, with all the blessings we have been given.
http://www.lifewithgracebook.com,
http://www.facebook.com/lifewithgracebook

Contributed by MOM Jennifer Schwertfeger,  Author of <a href="http://www.infor@lifewithgracebook.com">Life with Grace</a>


For more information click HERE

Monday, April 28, 2014

Hydrocephalus, Arthrogryposis, Chronic lung disease

Overview:
Hydrocephalus is a buildup of fluid inside the skull that leads to brain swelling. Hydrocephalus means ”water on the brain.”

Symptoms:
Symptoms of the diagnosis- this is not specific to your child.

Testing/Diagnosis:
Hydrocephalus thru MRI, Catscans, ultrasounds
Arthrogryposis is presented at birth

Treatment:
Hydrocephalus has no cure only treatment is brain surgery for a shunt.
Arthrogryposis treatment is castings, braces and surgery

Resources:
Hydro Angels over America
Shriners Hospital

Personal Story:
I want to share an amazing little girl who battles everyday to be here with GODS Grace.
Janyia’s battle started before birth, at 13 weeks along utero. She was cut off oxygen for 29 minutes due to a surgery that had to be done to save my life. They had discovered Janyia would of been a twin but the other baby ruptured my tube causing internal bleeding. Right before they took my back I remember the pain and not being able to breathe. My life, family, unborn child flashed in front of my eyes and I looked at my grandmother and said I’m going to die, she then said to me GOD was with me. I had took my last breathe and everything went away, no more pain, I seen the gates of heaven. Drs didn’t expect me to survive let alone Janyia. I had 2 surgeries, spent 1 week in ICU and 2 more on a regular floor. I was cut open from breast bone to pelvic bone. Drs and nurses would keep telling me I would loose Janyia anytime. One night in the hospital it came to me Janyia was the reason I survived and I knew I was hers. Were eachothers guardian angels. At my 20 week ultrasound we discovered she had no use/movement waistdown caused by Arthrogryposis. 36 week ultrasound showed fluid on her left venterical on her brain and again I was scheduled Csection at 38 weeks. Drs prepared me with everything that has happened and now she wouldn’t survive birth. Janyia was born March 12, 2013. She spent almost 4 weeks in NICU having her first surgery at 2 weeks for a feeding tube. Janyia has reflux, aspiration and no motion. Her legs were bent in and up with clubbed feet. She went to ia city every Monday for 12 weeks of casting to get them out. She has been admitted several times for different reasons. August 2 she had surgery on her brain to place a shunt. August 4 back to surgery for a revise. She spent a month admitted due to weight loss and vomiting and was switiched to a gj tube.she is on a 20 hr continuious feed. She had surgery Dec 12 for ear tubes and adnoids removed. January 2014 she had a close call I took her in due to her heartrate 260s plus. She was on a ventilatior due to RSV. Janyia has seizures and sleep apena. She requires meds, breathing treatments and oxygen. She has a home nurse and ither PT/OT and early acces everyday. She has tons of appointments to see all her specialists. Janyia is a true miracle and proof GOD is amazing. Janyia will never walk and has very limited head and trunk support. She endures so much and smiles. Thank you Lord, he has amazing plan for Janyia

Contributed by MOM Janyia Miracle

For more information click HERE

Monday, April 21, 2014

Q21.1 Micro Duplacation

Overview:
this is a chromosome disorder that can vary in symptoms

Symptoms:

  • Relatively large head

  • Increased possibility of mild or moderate developmental delay

  • Increased possibility of autism or autistic-like behaviour

  • Slightly unusual facial features

  • Heart problem

  • Seizures

  • Increased risk for other inborn anomalies


Testing/Diagnosis:
this is done by a blood test called fish

Treatment:
you can only treat the symptoms

Resources:
unique and rarechromo.org are two places to look

Personal Story:
well my 8 yr old got tested at five and he was presenting with ADHD,sight problems with eye turning,hearing loss,lots of lung issues,sleep apnea,asthma,low muscle tone,seizures,malrotation,narrowed trachea,he may need cpap in the future hernia,hydro seal ,tonsils and adenoids have been taken out and my three year old is going through all of this to

 

Contributed by MOM aimee

For more information click HERE

Monday, April 14, 2014

Pyruvate Dehydrogenase Complex Deficiency (PDCD)

Overview:
Pyruvate Dehydrogenase Complex Deficiency results from the deficiency of one or more of the pyruvate complex enzymes. In short, the body can no longer effectively metabolize carbohydrates and as a result the body’s ability to produce enough energy to run it’s systems is interrupted.


Symptoms:
The severity of symptoms vary widely from person to person but often include:



  • Low muscle tone

  • Irregular eye movements

  • Seizures

  • Poor head control

  • Lack of energy

  • Developmental Delays

  • Complications of normal childhood illnesses

  • High lactate

  • Acidosis


Testing/Diagnosis:
PDCD is normally diagnosed via muscle or skin biopsy. Genetic (DNA) testing is also sometimes recommended because occasionally, a single biopsy won’t show the deficiency.


Treatment:
Currently there is no cure for PDCD however the Ketogenic diet has improved the quality of life of many patients. Vitamin B1 is also recommended.


Resources:
You can find our support group on Facebook if you search PDCD Parents and Friends.


More information on PDCD:
Genetics Home Reference
United Mitochondrial Disease Foundation


Personal Story:
gavinMy husband, two sons and I welcomed our third son, Gavin, into our family in late summer of 2009. At first, Gavin seemed as healthy as our other two children although he was a little smaller. Within two weeks however, Gavin was rushed to the hospital by ambulance because he was having a hard time breathing. I had no idea the road we were in store for.


Upon arriving at the hospital Gavin was discovered to be acidotic (too much acid in the blood). After some further tests and observation Gavin was transported to Nationwide Children’s in Columbus with suspicion that he had a metabolic disorder. There, we met our metabolic team of Geneticists, Nurses and a Dietician who would later become like an extended family to us during our stays at the hospital.


It took a few months for the tests to come back but it was confirmed that Gavin suffered from a very rare metabolic disorder called Pyruvate Dehydrogenase Complex Deficiency (PDCD). PDCD is a genetic, neurodegenerative disorder which interrupts the body from correctly metabolizing carbohydrates. There is no cure for this disorder but in some cases it can be managed with the Ketogenic (high fat, low carb) Diet.


At the time Gavin was diagnosed, he had mild motor delays which was pretty good considering that the disorder can affect boys pretty severely. In fact, many boys don’t live for more than a few years. Our doctors however, were optimistic and hopeful because Gavin was presenting fairly well and some tests had come back indicating that Gavin was mosaic, meaning some cells in Gavin’s body were functioning perfectly fine. We were still given an emergency letter with instructions for any doctor that may be treating Gavin. We were also told when to take him to the hospital and were warned that the slightest childhood illnesses could become life threatening very quickly.


We learned how quickly the following month. Gavin was sick with a fever and was breathing a little faster. We took him to the ER and gave them the ER letter, all the time thinking he didn’t look any sicker than any other baby with a fever. Within an hour of arriving at the hospital, Gavin suffered from respiratory failure. He had to be intubated and flown to Nationwide where he was treated and released a week later. To make matters worse the same thing happened again two weeks later. At that point, we realized how fragile our seemingly normal child was.


Through all of this, Gavin recovered just fine and he continued to develop at a regular pace slightly behind his peers. However, in the summer of 2010, just when Gavin was starting to sit up on his own and roll to go where he wanted, he suffered a major setback. He once again became acidotic but this time when Gavin woke up, something was different. He was really floppy and wasn’t responding like he normally did. An MRI later confirmed that he had suffered some injuries to different areas of his brain. Gavin slowly came around. He started smiling and cooing again but he continued to have difficulty with seemingly simple motor skills, like holding up his head. This was a hard time for all of us but it was a turning point as well. We began to learn to appreciate what Gavin could do instead of focusing on what he couldn’t. Each smile became priceless and each new skill was something to truly celebrate.


In the months that followed, Gavin continued to recover, slowly regaining some motor control. What loomed around the corner continued to haunt us, although we tried our best to focus on the present. Cold and flu season soon caught up to us though and Gavin became feverish once again. This time, Gavin did well with the fever but his respiratory infection caused complications. Due to his hypotonia (low muscle tone), he couldn’t cough well enough to clear his secretions and developed pneumonia. He needed breathing support and we went along with the Doctors’ advice and made arrangements for Gavin to have a tracheostomy. Soon afterward Gavin was back to his happy self, smiling upon seeing people he recognized and loving games like peek a boo. About a month after his surgery Gavin came home and life and we began to develop our new normal. Today, Gavin enjoys reading books and watching his brothers play. He’s an avid lover of Nick Jr. and attends preschool with his nurse a couple times a week.


What a road this has been so far! Less traveled, and not the one we expected to take, but I can say that I’ve learned alot! I’d be lying if I said that I wouldn’t change a thing but I am grateful for what I’ve learned to appreciate and I’m thankful for the people we’ve met. I’m not sure where our road will take us but I know that as a family we can handle the things that life throws our way and we’ll cherish everyday we have together.


Contributed by MOM Michelle King

Monday, April 7, 2014

Muckle Wells Syndrome

Overview:
Our little girl, Skyelah, was born with a rare disease that I had to keep pushing for answers & finally got an appointment at the NIH by the time she was 7 months old.


Symptoms:
spots, low grade fever, reflux


Testing/Diagnosis:
Arkansas Children’s Hospital, NIH


Treatment:
Anakinra, Ilaris


Resources:
National Institutes of Health, NORD, Rare Disease, Nomid Alliance


Personal Story:
ruddI try to connect people to the right info after feeling helpless & alone when we couldn’t find answers for our baby. I was persistent even when Dr.’s said I was just overprotective & she’d outgrow whatever it was. You could tell she didn’t feel good & some days her spots were so bad we wouldn’t leave the house to avoid explaining. My biggest fear was the time going by would cause permanent damage & not knowing if she was dying. No one (in Arkansas), her Pediatrician, nor the specialist at Children’s Hospital, had a clue what was wrong with her. In fact, she has a scar from them doing a biopsy, thinking it was allergies. Once we flew out to Maryland & they tested her for a week, they clinically diagnosed her because her genetic mutation did not show up until they had it sent off for further testing. As soon as they gave her the first shot of daily medicine, Anakinra, her true self began shining for the first time since she was born. They changed her meds about a year later from daily to once every other month, Ilaris. Both of these meds are extremely expensive which has insurance scares that play a role in her future care. We continue to travel out to the NIH yearly for her testing where we see some slight changes in her physical functions each time.


Contributed by MOM Angela Rudd


For more information click HERE

Monday, March 31, 2014

Traumatic Brain Injury

Overview:
My daughter was born healthy and normal. She suffered a traumatic brain injury at 2 1/2 years old, we still do not know exactly what happened that day.


Symptoms:
She is now unable to speak, walk or even sit up on her own. She has partial paralysis on the entire right side of her body.


Testing/Diagnosis:
She is diagnosed with Hemiparesis, a type of cerebral palsy, and epilepsy.


Treatment:
The only treatment we are allowed through insurance is physical,occupational and speech therapy. She wears braces on her feet to help keep the muscles in her ankles tightening and were working to get her a brace for her right hand. She also takes medication for seizures and medication to help keep her muscles relaxed.


Resources:
https://www.facebook.com/groups/ParentsofChildrenwithBrainInjuries/


http://www.biausa.org/


http://www.neurorestorative.com/locations/illinois/carbondale


http://lahoodcenterforcp.com/index.html


Personal Story:
unnamedThe date was September 13, 2012. Kylie was 2 1/2 years old and was being babysat while I was at work. I often went to pick up my sister from work before picking up Kylie as Kylie was being watched at her home. On the way I got the worst phone call any parent could ever want. Kylie had reportedly fallen off the deck and was unresponsive. The ambulance was on it's way. Approaching the turn to my sister's house I could see the ambulance coming up the road. That was my baby in there... I followed as fast as I could, arriving only minutes behind the ambulance. When I entered the ER I demanded to see Kylie, I wasn't going to answer any of their questions or fill out any paperwork. They took my into the room she was at and told me to sit in a chair in the corner. I couldn't see Kylie. There were too many doctors and nurses surrounding her. Kylie was admitted with a glasgow coma scale of, I believe, 3 which is about the lowest you can get and still be alive. She would not open her eyes, she made no sounds and barely responded to painful stimuli. I only got to sit there a couple minutes before they ushered me into a private waiting room. It seemed like I was there for hours. Kylie was in the ER for an hour and a half. The police came asking me stupid questions like where I worked. The only thing I was concerned about was what was wrong with my baby. It felt like I was in a dream. They told me she would have to be taken to a different hospital 2 hours away and that she would be taken via LifeFlight (helicopter) I was finally able to get a hold of Kylie's dad and he rushed to the hospital as soon as he could. They let me see Kylie before she was taken on the helicopter. She was intubated and unconscious. Kylie's dad arrived just in time to see the helicopter lift off. We made the 2 hour drive down to Children's Hospital of Illinois. About 10 minutes before we arrived I got a phone call telling me she was being taken into emergency surgery. Thank god they didn't wait for us to arrive. We waited again for what seemed like hours before someone came and told us about the surgery and Kylie's condition. Kylie had suffered massive head trauma and her brain was swelling so much that it was trying to move down into the back of her neck. Kylie had suffered a subdural hematoma along with bleeding in her brain. They had to remove a portion of Kylie's skull to allow the brain more room to swell and they had to remove blood clots that had formed in her brain. They told us this was something Kylie would never recover from. That the little girl we knew was gone. Kylie was taken to the pediatric critical care unit after surgery where we waited again for something like 5 hours before she was stable enough for us to see her. Waking into the room was heartbreaking. Her little head was so swollen and she was still intubated, unable to breathe on her own. She had multiple IVs in both her arms and legs. She didn't look anything like my little girl. They had a wire surgically placed in Kylie's brain to monitor the pressure and swelling inside. It took almost a week before Kylie opened her eyes, but she was absent. There wasn't anything left of the little girl I once knew. It was hard to tell how aware she was of anything. She had moments where her heart rate would skyrocket to almost 200bpm. She was given medicine to help her relax. They put a PICC line in her arm, which is basically a multi port IV that runs in her arm and stops at a point near her heart. Kylie's doctors on multiple occasions spoke to us about "being prepared for her to not recover" and what our options were. I would usually walk out on them when they began trying to talk about that. They also spoke of her probably needing a tracheostomy. A tracheostomy is a surgical procedure to create an opening through the neck into the trachea (windpipe) to provide an airway. They never thought she would be able to breathe on her own again. About a week into our stay, one of Kylie's nurses thought she witnessed Kylie have a seizure. Although Kylie didn't move her pupils were moving in a repetitive motion leading the nurse to think it was something like an absent seizure. They wanted to put the bone they had removed back in Kylie's head at this point but needed to do an EEG to check for seizure activity before they could. Everything went well with the procedure and the bone went back in. About a week and a half after being admitted to CHOI Kylie was still intubated but was initiating breaths on her own and the doctors attempted to take the breathing tube out. I waited in the back of the room, hardly seeing a thing as the doctors surrounded her expecting to have to put the breathing tube back in. I think I stopped breathing for 5 minutes while they pulled the tube out. They had to use the oxygen bag to help her start breathing and put her on a a very high concentration of nasal oxygen, but she did it. She was breathing on her own. As Kylie became more stable she was gradually moved to different wards of the hospital. From Peds ICU to intermediate care and finally general pediatrics. Although Kylie was more stable she was still completely absent. Sleeping most of the time, she never moved or made a single sound. It was discovered when Kylie was moved to intermediate peds that she had developed a bed sore on the back of her head about the size of a quarter. After Kylie was weened off the nasal oxygen she was given a tube placed in her nose and down to her stomach to start feeding her. Kylie didn't do so well with that. She threw up many times and often dislodged the tube and forcing them to replace it. Kylie also began to accumulate large amounts of fluid between her skull and skin where they had removed and replaced the bone. They surgeon spoke to us about possibly having a shunt placed to remove the fluid if it continued to build. He came in daily and attached a large syringe to a needle and drew the fluid from her head. After about a week of this, the fluid was gone and Kylie did not need a shunt placed. Kylie was observed to have multiple seizures while in intermediate care. There was one day she must have had 10 or more. Luckily only lasting a min or so. Kylie was placed on an anti-convulsive medication and we didn't see any more seizures. Kylie was then determined to be stable enough to move to general pediatrics and she got her first bath since her head injury and I finally got to hold her. The hospital had done hearing and vision tests on Kylie, to the best of their ability. It was determined that the parts of Kylie's brain responsible for sending this information were functioning as they should be but there was no way of knowing how Kylie's brain was interpreting the information. In preparing to go home, it was decided that Kylie would have a G-tube placed in her stomach for feeding her liquid nutrition. I was very concerned about a surgery in which Kylie would need to be intubated again, but she did great and was breathing on her own immediately after the surgery. Kylie was in the hospital for 47 days following her brain injury. She came home the day before Halloween.


Contributed by MOM Stephanie Bradford


For more information click HERE

Monday, March 24, 2014

Spinal muscular Atrophy (SMA)

Overview:
Spinal Muscular Atrophy (SMA) is a motor neuron disease. The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. It is a relatively common “rare disorder”: approximately 1 in 6000 babies born are affected, and about 1 in 40 people are genetic carriers.


Spinal Muscular Atrophy (SMA) refers to a group of inherited diseases of the motor nerves that cause muscle weakness and atrophy (wasting). The motor nerves arise from the spinal cord and control the muscles that are used for activities such as breathing, crawling, walking, head and neck control, and swallowing. SMA is a rare disorder occurring in approximately 8 out of every 100,000 live births, and affecting approximately 1 out of every 6,000 to 10,000 individuals worldwide.


SMA affects muscles throughout the body. In the most common types, weakness in the legs is generally greater than in the arms. Sometimes feeding, swallowing, and respiratory function (e.g., breathing, coughing, and clearing secretions) can be affected. When the muscles used for breathing and coughing are affected and weakened, this can lead to an increased risk for pneumonia and other respiratory infections, as well as breathing difficulty during sleep. The brain’s cognitive functions and the ability to feel objects and pain are not affected. People with SMA are generally grouped into one of four types (I, II, III, IV) based on their highest level of motor function or ability.


Symptoms:
Infants with SMA type I are born with very little muscle tone, weak muscles, and feeding and breathing problems.
With SMA type II, symptoms may not appear until age 6 months to 2 years.
Type III SMA is a milder disease that starts in childhood or adolescence and slowly gets worse.
Type IV is even milder, with weakness starting in adulthood.
Often, weakness is first felt in the shoulder and leg muscles. Weakness gets worse over time and eventually becomes severe.


Symptoms in an infant:


Breathing difficulty, leading to a lack of oxygen
Feeding difficulty (food may go into the windpipe instead of the stomach)
Floppy infant (poor muscle tone)
Lack of head control
Little movement
Weakness that gets worse


Symptoms in a child:


Frequent, increasingly severe respiratory infections
Nasal speech
Posture that gets worse
Scoliosis


Testing/Diagnosis:
The first steps in diagnosis of a neuromuscular disease are usually an in-office physical examination and family history, with some simple tests to distinguish spinal muscular atrophy (SMA) from similar conditions (such as muscular dystrophy).


The doctor may order a blood test for an enzyme called creatine kinase (CK), an enzyme that leaks out of muscles that are deteriorating. This is a nonspecific test because CK levels are elevated in many neuromuscular diseases, but it’s often useful anyway. High blood CK levels aren’t harmful in and of themselves, but they do indicate that muscle damage has occurred.


The doctor probably will recommend genetic testing if SMA is suspected, because this is the least invasive and most accurate way to diagnose chromosome 5-related SMA (types 1-4). Genetic testing requires only a blood sample. However, it has implications for the whole family that must be considered (see Causes/Inheritance).


Genetic tests are available for chromosome 5-related SMA and for some of the other forms of SMA. See Athena Diagnostics, a Massachusetts company that offers genetic testing for many neuromuscular diseases, including SMA; and Gene Tests, a website supported by the National Center for Biotechnology Information and sponsored by the University of Washington-Seattle, that lists available genetic tests.


Reliability and specificity of genetic tests are improving, and the number of tests available is expanding rapidly as knowledge and technology improve. For more on getting a definitive genetic diagnosis, see The Genie’s Out of the Bottle: Genetic testing in the 21st century. Your MDA clinic team can guide you toward the right type of genetic testing for your situation.


In rare cases, doctors may order a muscle biopsy, which involves taking a small sample of muscle tissue, usually from the thigh, and looking at it under a microscope.


Other tests sometimes used to diagnose SMA include one that measures nerve conduction velocity — the speed with which signals travel along nerves — and one that measures the electrical activity in muscle, called an electromyogram, or EMG. Nerve conduction velocity tests involve sensations that feel like mild electric shocks, and EMGs require that short needles be inserted in the muscles.


Treatment:
There is no cure for SMA. Treatment consists of managing the symptoms and preventing complications.


Resources:
Fsma.org


Personal Story:
kristenMy son, Brayden was diagnosed with Spinal Miscular Atrophy on September 6, 2013! When he was 15 months we began to realize something was wrong! He never began to walk! He never even tried! We would stand him up with help and he just wouldn’t go! We underwent multiples of testing! Blood work after blood work! Everything came back fine! He became sick in march of 2013 and ended up in the hospital for dehydration and ended up leaving with a feeding tube! He was on it for about 2 weeks and showed improvement! But there was still something wrong! At 20 months, his pediatrician desided to send him to Siskins for developmental delay! I expressed some further concerns with this pt who thought it be best to see a neurologist who then recommended testing for SMA! The one test we never wanted to be positive! We were so crushed and in shock, but have somehow managed to get through it and come out stronger than we ever imagined! Brayden is a type 2! Although unable to walk, he is pretty strong! He is able to sit unsupported, able to crawl, and can cruise some along the couch, but is getting to where he can’t do that as much! He is healthy otherwise and we thank God each and everyday for our wonderful little boy!


Contributed by MOM Kristen Hobbs

Monday, March 17, 2014

Dandy-Walker Syndrome

Overview:
Dandy-Walker Syndrome (DWS) is a congenital brain malformation involving the cerebellum and the fluid filled spaces around it. A main feature of this syndrome is the partial or even complete absence of the part of the brain located between the two cerebellar hemispheres. DWS is a genetically sporadic disorder that occurs one in every 30,000 live births. It is also associated with Hydrocephalus.


Symptoms:
Dandy-Walker Syndrome (DWS) is a congenital brain malformation involving the cerebellum and the fluid filled spaces around it. A main feature of this syndrome is the partial or even complete absence of the part of the brain located between the two cerebellar hemispheres. DWS is a genetically sporadic disorder that occurs one in every 30,000 live births. It is also associated with Hydrocephalus.


slower motor development and progressive enlargement of the skull. increased intracranial pressure also causes symptoms such as irritability, vomiting and convulsions and signs of cerebellar dysfunction such as unsteadiness and lack of muscle coordination or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, problems with the nerves that control the eyes, face and neck, and abnormal breathing patterns.


Testing/Diagnosis:
Prenatal diagnosis is possible with ultrasound. Because the syndrome is associated with an increased risk for fetal karyotype abnormalities, amniocentesis can be offered after prenatal diagnosis. MRI and CT scans aswell as genetic testing.


Treatment:
Treatment for individuals with Dandy–Walker Syndrome generally consists of a shunt to reduce intracranial pressure, it is placed inside the skull to control swelling. Endoscopic third ventriculostomy is also an option. Treatment may also consist of various therapies such as occupational therapy, physiotherapy, speech therapy or specialized education. Services of a vision teacher may be helpful if the eyes are affected.


Resources:
Www.Dandy-walker.org


Personal Story:
dandywalker
When I was pregnant I had my first ultrasound at 21 weeks, they couldn't determine the sex, and they had to have the doctor come and re-look at the brain. There was a mass of fluid in the back and they told me it was most likely spina bifida and that they couldn't tell me a positive answer unless i went through for more testing. I knew , regardless of what the condition was, God made my child PERFECT in his image & had a true purpose for this and didn't accept further testing & the genetic counselor and doctors recommended an abortion. I don't think I've ever cried so much, they made me feel so horrible and that my child wasn't going to walk or talk, basically not do anything. I decided to change my OB/GYN and get a second opinion at a different hospital and i went to Tufts Medical Center in Boston. There they did an ultrasound and said we see the fluid , and it is what we call a Dandy-Walker Syndrome (DWS). Finally after 3 months of ultrasounds at the previous hospital , I have a name/condition to what they found! They told me basically not to be afraid, it varies WIDELY ! there are some children who suffer greatly and others who have no signs or symptoms other then headaches and nausea. They told me it is basically something we have to take day by day through his life. I delivered my baby at 36 weeks & 4 days, on April 9th 2013 @ 2:53am at Melrose-Wakefield Hospital to a beautiful baby boy my husband and I named, Yael (Ya – as in yacht; el – as in the letter L ) Jeremiah. His name in Israel means, God's Strength. At birth my son was taken to the NICU and 12 hours later was transported to Tufts Medical Center. My son was born with a list of things we would have to follow up with, he had Jaundice, his blood platelet counts kept dropping ( which we found out our bloods platelets are different and i create very rare antibodies that attacked him- NAIT) , he had a Coarctation of Aorta, Hypospadias, He Had A Hemorrhage of the brain and lastly it was certain Yael had DWV. The first few days were so hard, because my son was faced with SO MUCH! it wasn't just this one thing. after 2 weeks, my son was discharged from the NICU & came home. He had an emergency shunt placed on September 9th, 2013 because he also developed hydrocephalus. He is such a miracle and has proven every negative thing against him wrong. he is developmentally on track and he isn't behind at all. its still early and i know my son is still a baby, but doctors told me he wont even talk, walk, they basically considered him brain dead & My son truly showed me , that doctors ARE NOT GOD ! there are still so many unanswered questions when it comes to science & to the brain. We just learned to have hope, don't doubt anything. Have faith even if it is as small as a mustard seed, the possibilities are endless. I'm dedicated to raising awareness for these conditions and start something in the Boston Area, because there isn't anything for DWS & hydrocephalus. I will keep updating on my sons progress, cause i know he is going to go beyond what doctors think! God Bless everyone!


Contributed by MOM Brittany Argueta


For more information click HERE

Monday, March 10, 2014

Loeys-Dietz Syndrome

Overview:
LDS is a rare congenital connective tissue disorder. Only about 500 people world wide have been diagnosed. It affects every body part in some way. The most critical effect is on the heart, mainly the aortic root. In patients with LDS, the aortic root expands to the point of rupture, often leading to death, especially in people who have gone undiagnosed. LDS also causes aneurysms, ruptures, and tortuous vessels throughout the body. It affects bones, joints, the GI system, the central nervous system, the lungs. With proper care and maintenance testing, it is a manageable life-long condition. However, the danger of a catastrophic event happening is always present, regardless of how proactive an LDS patient is.


Symptoms:
Aneurysms, arterial tortuosity, scoliosis, kyphosis, flat feet, bifid uvula, cleft palate, craniostenosis,joint laxity, cervical spine instability, pectis excavatum or carinatum, osteoarthritis, contractures of the fingers, club foot, hernias, soft velvety skin, easy bruising, rupture of organs, congenital heart defects.


Testing/Diagnosis:
Genrtic testing when physical symptoms are noted.


Treatment:
No cure. There is no one treatment for the disease. Because it causes different ailments throughout the body, each ailment can be treated accordingly. The blood pressure medication Losartan is recommended for all LDS patients as a drug that can help slow the dilation of the aortic root and help prevent spontaneous rupture.


Resources:
Loeysdietz.org


Personal Story:
I found out that I had LDS when I was pregnant with my son, Bodhi. At that time, at 20 weeks along, doctors told me to terminate my pregnancy. It was too unsafe for me to carry and they were concerned I would have an aortic dissection or uterine rupture. My husband and I made the easiest and most difficult decision of our lives to give our baby a chance. The pregnancy was a scary ride, but we were relieved that I made it through when our baby boy was born 6 weeks early. Unfortunately, I had passed LDS on to him and he was born with a long list of his own problems. He spent the first 6 weeks of his life in the NICU. Then I went immediately into the hospital for my aortic root repair. I had made it through the pregnancy, but my aorta would not hold out much longer. At first the surgery was considered a success, but that night something went horribly wrong and I went into cardiac arrest. I died for 5 minutes before the doctors were able to revive me and take me back for an emergency coronary artery bypass. I spent the next two weeks in a coma and woke up thinking it was the next day after my original surgery. I was still intubated and very confused, then devastated when I was finally told what happened. I spent an entire month in the hospital missing my newborn son, and another two years before being fully recovered. Today, Bodhi and I live LDS every single day. Our daily lives are a struggle, but he keeps me smiling. He has a g-tube, and at the age of four, has several surgeries and medical procedures under his belt already. I deal with chronic pain and fatigue, along with a long list of medical issues. My little guy keeps me going though. If he can do it, so can I. He always gives me a reason to fight harder… And it’s because of him that I’ll never stop.


Contributed by MOM Bodhi Swindle

Monday, March 3, 2014

Dopamine Deficiency

Overview:
The chemical dopamine is produced naturally in the body and functions as a neurotransmitter, playing a role in the pleasure and reward pathway of the brain as well as in memory and motor control. When dopamine levels fall low symptoms such as depression, mood swings, poor attention and food cravings can occur.


Symptoms:
Low muscle tone, weakness


Testing/Diagnosis:
Extensive testing


Treatment:
Drugs normally prescribed for Parkinsons Disease


Resources:
Tgen Center for Rare Childhood Disorders


Personal Story:
[embedyt]http://www.youtube.com/watch?v=3Su0FchniqE[/embedyt]
Shelby spent the first 10 years of her life in a wheelchair before discovering her brain was not producing Dopamine. After researchers at Tgen decoded her DNA, they were able to put her on a treatment plan. She has been wheelchair free for over three years.


Contributed by MOM Renee Valint


For more information click HERE

Monday, February 24, 2014

Trisomy 5q

Overview:
Rare chromosome disorder.
Long arm : within the 15p15.33 band there is a deletion of 0.133 Mb followed by a duplication of 0.710 Mb followed by a deletion of 0.119 Mb
Short arm: duplication of 5q33.2q35.3


Symptoms:
Congenital heart defect, growth failure, failure to thrive, low birth weight, low set of ears, small chin, small jaw, short neck, plagiocephaly, developmental delay in all area.


Testing/Diagnosis:
Chromosomal microarray analysis
Partial karyotype and FISH studies of both parents it is not inherited it is a de novo event.


Treatment:
Vsd repair at 9 months. Amiodarone to control tachycardia and episodes of SVT.
Weekly therapy to help on development ( speech , OT, physical, nutritionist, early interventionist)
Feeding tube to help on gain weight.


Resources:
Naylah is the only one we know of in her medical circle with this diagnosis.
Other documents are from the 1980s where not much detail is given.


Personal Story:
naylahNaylah was diagnosed with trisomy 5q at about 5 months but her journey as a fighter started at my 20 weeks checkup which she was diagnosed with coarctation of the aorta. Chances were that at birth she would be going through her first heart surgery. From then, We would go weekly to the Obygyn to make sure she was growing strong. At 37 weeks of pregnancy, they decided to induce me since she wasn’t gaining weight.


She was born on May 2nd 2012, Pink and full of life, surgery wasn’t needed. The coarctation was mild but we would go frequently to the cardiologist to make sure she was growing healthy. She also had a mild ASD and a VSD that we were hoping would close on its own as she was growing. Naylah had failure to thrive her first 9 months of life was just like a newborn she would eat every two hours, play shortly and go to bed. That was our daily routine along with many cardiology and pediatrics appointments.


At about 5 months her cardiologist thought her head was too small and her ear sets too low. To us she looked perfect but he suggested to take her to a geneticist to see if she had any abnormalities. A few weeks later results came in. Naylah was diagnosed with trisomy 5q. She has deletion within the 15p15.33 band there is a deletion of 9.133 Mb followed by a duplication of 0.710 Mb followed by a deletion of 0.119 Mb along with duplication of 5q33.2q35.3 . Being a rare genetical disorder that left us at blank. Not knowing where her deletion were, what they cause and what the extra one will make. She is the only one we know of in her medical circle with that.


Soon after that to help her with whatever delay she may have, we started home therapy. She is being seen weekly by speech, occupational, physical therapists and nutritionist. To help us understand better the way she function.


At 9 months Naylah went through her first surgery she had a VSD repair causing too much blood flow and was also diagnosed with tachycardia were she does episodes of SVT( which brings her heart to a rate in the 240s and +). She recovered very fast from surgery but that was the scariest moment of our lives. After 15 days we got to bring our baby back home, and was now on Ameodarone to help control her heart rate.


New hopes came in thinking she would finally start sleeping trough the night and having more energy for others activities. It helped but the heart wasn’t the issue so we question her genetical disorder. We always see things this way if it’s not the heart it’s the trisomy 5q. At 10 months she started sitting. That was a big moment of pride. At 12 months to help her gain weight (14lbs 4oz)and sleep better we went to see a gastronomist who recommended a feeding tube. So we went for it. Anything to help her out, next day out of the hospital Naylah slept for 12 hours straight. We didn’t, we were actually so use to her waking up at all times that our body got use to it. Another big step for our warrior. At 16 months Naylah started crawling. Yes, she is behind in a lot,but every child is gifted they just unwrap their packages at different time. Our daughter is determinate, and she has been doing all the milestones needed at her own time frame. She is doing everything she is suppose to but at her own time. She might not crawl at 6 months like most kid do,take her first steps by her 1st birthday, say mama or dada like she is suppose to, eat a whole meal by mouth without having trouble with it, but the most important thing to remember is that She has an amazing team behind her and we are her biggest fan and source of support.


Every new thing she does shows us she has the willingness to do so. A friend once told me it takes a village to raise a kid. Sure enough she was right, no way we could of made so much progress without family/ friends support and all her medical team. She has a total of about 20 different specialists working with her, with us. Here are some of the characteristics of a child with trisomy 5q. Small head, plagiocephaly ,small jaw/mouth/neck,failure to thrive, developmental/ physical delay, heart disease and physical appearance which on her are unnoticeable unless you know where your ear lobs are suppose to be;) . The only case we know of is from the 1980′s. Where they don’t give us much detail of how the little girl on the article developed, what she accomplished and how her life growing up is like. It’s very brief and very unknown. She might not have had the same loss of chromosome as our daughter. Only time will tell but we know so far. She came to win to fight and we are never giving up.


Contributed by MOM Daniella
For more information click HERE

Monday, February 17, 2014

Hydrocephalus

Overview:
Our daughter Brieanan was diagnosed with hydrocephalus at just 10 months old, less than 3 days later she suffered a massive global stroke (which actually did more damage than the cancer itself), three days later she underwent an almost 10 hour surgery to remove her tumor and once it was biopsied she was subsequently diagnosed with anaplastic ependymoma a grade 3 brain cancer. She has undergone many surgeries, scans and therapies, spent over 75 days in the hospital over an 8 month period and is just an amazing little girl. She's our miracle tumor trooper!


Symptoms:
secondary hydrocephalus, vomiting, focal seizures, loss of milestones, infantile spasms, drastic weight fluctuations, nystagmus


Testing and Diagnosis:
Ultrasound, MRIs, bloodwork, CT scans
Diagnosed with hydrocephalus Aug 24th 2012
Diagnosed with large brain tumor Aug 29th 2012
Suffered massive global stroke Sept 1st 2012
Diagnosed with anaplastic ependymoma Sept 5th 2012
Diagnosed with epilepsy Sept 2012
Diagnosed with paralyzed vocal cords 2012
Diagnosed with Cortical blindness Oct 2012
Diagnosed with subdural hematomas March 2013
Diagnosed with Cortical vision impairment Spring 2013


Treatments:
External emergency shunt for immediate relief of hydrocephalus and the resulting stroke


Complete tumor resection, no chemo/radiation because of age (10 months) and the amount of brain tissue already damaged from stroke we couldnt risk more irreversible damage for a treatment that might not be necessary or might not work


VP shunt placed for long-term treatment of hydrocephalus


Trach placed due to paralyzed vocal cords


G-tube placed secondary to trach


Port-O-Cath placed for future lab work and possible chemo


Subdural shunt placed for long term treatment of the two large subdural hematomas


Complications and infection due to shunt tubing perforating bowel and both shunts externalized during 2 week intensive antibiotic course


Hydrocephalus was found to be self-regulating so VP shunt was removed


Subdural hematomas were cleaned out and subdural shunt also removed
(very rare to have these shunts removed as most shunts are left in even when not needed any longer because of the risk of infection to the brain and CSF during surgeries and recovery)


Currently has MRIs every 3 months to check CSF and to check for recurring tumors


Also undergoes vision, physical, speech and occupational therapy and is on anti-seizure medication


Resources:
www.butterflyfund.org
www.chasa.org
www.acco.org


Personal Story:
unnamedOn August 29th, our daughters 10 month birthday, we found out that she had a fairly large brain tumor which was causing hydrocephalus the pressure from which caused a global brain stroke just three days before the tumor was able to be removed.


Luckily the tumor came out completely and after many scans and MRIs she is cancer free, but we still are dealing with the aftermath of the stroke which did more damage than we could ever have imagined. She has a trach to breathe, a g-tube to eat, a shunt to drain excess fluid from her brain to her belly, and she has a port-o-cath for any treatments she might have to go through. Luckily we did not have to go through chemo or radiation, but it is still a hard lot to deal with. She went from being a perfectly normal developing 10 month old to a newborn hooked up to countless machines and undergoing many treatments. But she is strong, and determined and stubborn, THANK GOD. She is progressing, slowly but surely, however it will be a long road to finding out whether or not our little miracle tumor trooper will ever be back with us 100% recovered. Our perfect little girl was taken away from us and we don't know if we will ever get her back like we remember her.


However, we are so thankful that we still have her, being in the PICU at the childrens hospital we saw many little ones lose their battles, and saw many families mourning children that had not even made it to highschool, but that doesn't take the pain away from our thoughts, and doesn't make our memories any less traumatic. No mother should ever have to see her baby, not even a year old, on a table with wires and tubes before she had even been able to say Mama. No parents should have to sit in a meeting room and see an MRI covered in white, showing the drastic brain damage their 10 month old has suffered, and be told that we would be lucky if she even woke up again. Its moments like that, they make you look back and realize how good you had it just a week before and look forward and realize you have no idea what the future holds for your child.


After spending almost 2 months straight in the hospital from Aug 29th to October 18th, we came home and tried to get settled in to our new life, trying to make a new normal. It was definitely hard. My normal now is scheduling countless doctors appointments, making sure B gets her medical supplies on time, making sure her medicines are refilled and keeping up with insurance calls and supply companies and therapy visits (on top of keeping up with housework and infant twins!) We have four amazing nurses that take care of B 24/7 so that we can in fact get back to a "normal" life. I was a stay at home mom and took her everywhere I went, so it was and still is super hard adjusting to the fact that I cant just pack up and take my little girl everywhere I go anymore, without a ambu-bag, supply bag, emergency trach bag and suction machine, and also a nurse.


So now we have a new normal, a medically special needs 2 year old, 6 month old twin boys and home nurses that are like family. I dont know what its like to be alone in my home anymore. I dont know when I might end up in the hospital and away from the twins for weeks at a time. Our life is an anything goes roller coaster at this point. We definitely never expected this but we are so happy to have our miracle tumor trooper still with us, being stubborn, doing things they said she might never do again, and being a princess and a diva at the same time.


Our family motto: Take NOTHING for granted!
Submitted by MOM Erica Jerome

Monday, February 10, 2014

Rubinstein Taybi Syndrome

Overview:
Rubinstein Taybi syndrome is a rare genetic disorder first described in the 1960s. It effects approximately 1 in 100,000-300,000 people. Spectrum disorder varying from mild to severe. They haven't figured out exactly what causes this, some have chromosomal deletions, some don't. More often than not a deletion in the CREBBP gene in the 16th chromosome.


Rubinstein Taybi syndrome is characterized by developmental delay both physical and mental. Common physical traits are a red wine spot on the forehead, beaked nose, downward slanting eyes, “grimacing” smile, broad and often angulated thumbs and great toes, fetal pads on fingers and toes, excess hair.


Heath problems include heart defects, failure to thrive, tethered spinal cord, reflux, dental issues, increased risk for cancers and tumors,chronic constipation, eye and hearing problems. Most prominent is speech delay. High risk of being non verbal. Autistic like tendencies such as stimming and tics. Sensory disorder common.
Behavioral problems.


Those with rts are often extremely happy outgoing people who love music and swimming. Their love, joy and strength is truly unmatched.


Testing/Diagnosis:
FISH testing can determine diagnosis but often just clinical diagnosis.
Follow ups required are pulmonary cardiology, audiology, genetics, gi, eye.


Treatment:
There are no treatments but management depending on health.


Resources:
Special Friends Foundation
RTS Confessions


Personal Story:
bast1My pregnancy was typical. No problems. No history of problems in family. They day I gave birth the first thing the nurses told me when she came out was she had abnormal thumbs. My daughter also had a double toe and VSD. I was referred to genetics. I got an appointment the day she turned two weeks. The geneticist examined her and then told me she had rubinstein taybi syndrome. Of course I had never heard of this. I asked what this means. Was it something I did? No. Its not hereditary. It just happens. He said it means she will be moderately to severely mentally retarded. I burst into tears. Holding my tiny angel, so fragile. So innocent. What did she do to deserve this? Of course the answer was nothing. After him and the counselor hugged me, he asked me if I wanted to continue talking or if id rather make a follow up. I asked him to continue. He started telling me all the appointments I needed to make. The therapies I needed to seek. The potential health risks right now. After the appointment was over I called her father and told him to leave work and come home. We spent that day crying in each others arms holding our daughter.


With the wisdom of my aunt it got better quickly. She told me I needed to mourn the loss of the child I thought I would have. I needed to grieve the loss of the dreams I had for her. She told me it was like a death. She told me to give myself two weeks to cry. Then I needed to get up, find my strength and fight. Before those two weeks were up I lost her too. But I still found myself standing and doing as she said.


bast2Now my daughter is just shy of 16 months. We've had vsd, enlarged kidney valve, failure to thrive, feeding tube, projectile vomiting, chronic constipation, reflux, double toe removal, mris, neuroblastoma, adrenalectomy, tethered spinal cord, planning heart surgery and thumb correction. Education therapy, physical, speech, occupational, sensory processing disorder diagnosis, mild sleep apnea, restless nights, fused labia. We have also realized how lucky we are that that list is all we’ve had. We’ve grown. We’ve found strength. We’ve had accomplishments and progress. We discovered love beyond most peoples capability. We found a family in our fellow rts parents. We’ve been happy. Our daughter is unbelieveably beautiful. Shes sweet and gentle. Shes so happy.


We’ve found acceptance. I wouldn’t change her. I wouldn’t want her to be anyone else. Who she is, is already perfect.
Contributed by MOM Stephanie Bast

Monday, February 3, 2014

HIE, CP, Epilepsy, FTT, GERD, dysphagia

Overview:
Emerson went without O2 during a traumatic birth and HIE resulted.

Symptoms:
She had to be resuscitated and intubated at birth, spent 6 weeks in the NICU, had no suck/swallow, hypotonic and hypertonic muscle tone, hearing loss and visual impairment.

Testing/Diagnosis:
She was diagnosed with Cerebral Palsy, Epilepsy, Failure to Thrive, GERD and dysphagia

Treatment:
We do a combination of traditional (OT, PT, vision, developmental) and alternative therapies (CME, VitalStim, Hippotherapy, MNRI, CranioSacral) and also stem cell therap. She has come a long way!

Resources:
Stem Cell Therapy Center
Therapy Center

Personal Story:
[embedyt]http://www.youtube.com/watch?v=QIHNnWFeMJs[/embedyt]

Contributed by MOM Dawn Hamilton
For more information click HERE