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

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

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:
My 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

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:
I 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