Juvenile Alexander Disease

Overview:
Alexander disease is a type of leukodystrophy. It is characterized by the destruction of white matter in the brain and abnormal protein deposits known as Rosenthal fibers. This is a rare and fatal neurologic disorder!

Symptoms:
Juvenile Alexander Disease is characterized by difficulty with talking and swallowing and the inability to cough. There can also be weakness and spasticity of the extremities, particularly the legs. The course of the disease may involve signs of swallowing or speech difficulty, vomiting, ataxia, and/or spasticity. Kyophoscoliosis can occur. Mental function often slowly declines.

Testing/Diagnosis:
Because the genetic defect in Alexander disease is known, genetic testing on a blood sample can be used to diagnose most cases of Alexander Disease. A suggestive diagnosis can also be made from the clinical symptoms, including enlarged head size, combined with radiological studies and negative tests for other leukodystrophies. MRIs often reveal a characteristic pattern.

Treatment:
The treatment for Alexander disease is symptomatic and supportive.

Resources:
http://ulf.org/alexander-disease

https://www.facebook.com/groups/Leukodystrophy/



Contributed by MOM Virginia Jimenez

PCDH19 Female Limited Epilepsy (FLE)

Overview:
PCDH19 FLE causes severe drug-resistant epilepsy as well as a spectrum of developmental, intellectual, and behavioral problems in girls and women. PCDH19 FLE can occur de novo or can occur within families passed from women to their daughters or asymptomatic sons or from carrier fathers to daughters.


Symptoms:
The most defining symptom in PCDH19 are the seizures. They tend to be extremely resistant to drug therapies and come in clusters that occur over regular intervals (once every week, month, or number of months). The seizures tend to onset in infancy or very early childhood, and, often, the early seizures are accompanied with severe apnea. In fact, many of the early seizures are confused with episodes of choking or aspiration. Over time the girls with PCDH19 tend to exhibit multiple seizure types including general clonic tonic, atonic, complex partial, myoclonic, and absence.

The girls with PCDH19 also exhibit behavioral problems. They tend to be spirited, willful, and fearless...they also seem to have friendly, smiling personalities when they are feeling good. When they are not doing well, they can be aggressive. Many exhibit autism, autistic features, obsessive-compulsive behaviors, anxiety. They also tend to have marked issues with sleep disturbance and difficulty falling asleep.

They also have a wide spectrum of developmental delays. Some are delayed from infancy while others regress with seizure onset. Some do not experience delays. Many exhibit some degree of speech delay or difficulty. Many show some signs of mild hypotonia and many general delays in motor and motor planning skills. There are two cases of girls with severe hypotonia who require feeding tubes (Esmé is one of these cases). Some, but not all, of the girls also experience a spectrum of cognitive delays, intellectual disability, and learning disorders.

Testing:
PCDH19 FLE is diagnosed via genetic testing. A variety of mutations of PCDH19 (on the X chromosome) can cause the symptoms of PCDH19.

Treatment:
There is no cure for PCDH19 FLE. The girls are treated with a wide variety of anticonvulsants with varying degrees of success. No one medication seems to be particularly helpful in preventing seizures in this population. Some relief may be offered by Vagal Nerve Stimulators. The girls are also treated for the various behavioral symptoms.

Resources:
The Cute Syndrome raises funds for PCDH19 FLE (also on Facebook)
Insieme per la Ricerca PCDH19 – ONLUS is an Italian organization that raises money for PCDH19 research
Dr. Jack Parent at the University of Michigan researches PCDH19
The International Ion Channel Epilepsy Patient Registry

Videos:
Esmé and the Cute Syndrome
The Symptoms of PCDH19

Personal Story:
Our baby was born in early 2011. Before we knew her, before we gave her a name, it was clear that something was wrong. She wasn't breathing well or making much noise and she was very floppy...and she was swept away into a special portion of the nursery. In her first hours our birth team worked to transfer Esmé to another hospital where she could be treated in a Neonatal Intensive Care Unit (and to discharge her mother), we hoped it would be a quick stay--that it would be "nothing." But as the days in the NICU went by it was clear that Esmé struggled with low tone and with feeding difficulties...and that the doctors suspected she had some sort of genetic condition.

In the first few months home with Esmé she struggled to eat or gain any weight. She was so little and so very weak. Holding her felt like holding a rag doll: light and floppy. But from her first moments she was so intensely alive. Her eyes were loving and communicative, her smile brilliant. She couldn't hold up her head, but she could direct a room. Her reflux was unlike anything I could have imagined. She would vomit unspeakable amounts of food and shudder in pain afterward, sweating through her clothes, crying in her tiny voice with a permanently wrinkled forehead.

And, strangely, she purred...all the time. In retrospect, this should have clued someone in, but her doctors seemed unconcerned. The only person who knew it was a problem was the speech therapist who started seeing Esmé through Early Intervention...to this day she remains one of the most loyal and attentive members of Esmé's medical team.

Unfortunately, at three and a half months Esmé developed severe chemical (aspiration) pneumonia and went into cardiac and respiratory arrest due to ongoing aspiration (when food goes into your lungs). Thankfully, with the help of Esmé's aunt we got her to the ER just in time. She received chest compression and was resuscitated by an amazing team of doctors and nurses. She spent two weeks in the Pediatric ICU, a portion of that time she was on a ventilator. While there she received surgery to place an abdominal feeding tube (g tube) and an anti-reflux surgical stomach wrap (fundoplication) in order to prevent her from aspirating while eating by mouth and preventing reflux and vomiting.

Unfortunately, within a month of this surgery Esmé was able to vomit again, having destroyed her fundoplication by constant retching induced by an allergy to her formula and irritation from the fundoplication. We were able to help her retching by starting on a blenderized diet, but the fundoplication coming apart created a herniated portion of her stomach to sit above the diaphragm, in her chest cavity, and had the unfortunate side-effect of increasing her reflux, retching, vomiting, and discomfort.

At 8 months Esmé had what we are fairly certain was her first seizure...

We were told, however, based on our description of the event and a normal 30 minute EEG, that it was not a seizure.

Several months later, the day after Christmas 2011, when Esmé was 11 months old, she had several "spells" in which she stopped breathing, shook, turned blue, and then appeared to recovery quickly, but sleepily. We called 911 and, although she looked good when they got to us, she had another "spell" in the ER: stiffening, turning blue, elevated heart rate, and desaturation. By the time she was admitted to the Pediatric Intensive Care, she seemed fine. A day of EEG showed nothing problematic, and we were told she had neurological reflux and discharged.

A week later she had ten "spells" in one day. We put her in the car and drove her to Boston Children's Hospital. Again she had one "spell" in front of hospital staff--everyone agreed that these looked a lot like seizures. The EEG was, again, essentially unremarkable.

Over the next months things continued like this: Esmé would have spells about once a week. The spells looked like seizures, but EEG after EEG was normal, even when she had a spell while connected. Fortunately we had a doctor at the time who stuck it out with us. She said: If it looks like a seizure, it's probably a seizure. We tried medications, but they either made Esmé sick or they did nothing. All the while she kept having between three and ten seizures in a cluster every week or so...like clockwork...which we were told was VERY unusual.

Finally one year after her first seizure, weeks of EEG monitoring and seven medications later, Esmé finally had a seizure on EEG that was large enough to read. And then she had another one. And just like that we had definitive proof of what we (and the medical team that knew Esmé well) had known all along: Esmé was having seizures. They were just very deep and difficult to pick up...and Ezzy really wouldn't have it any other way than to keep everyone guessing for awhile.

Several months after that we were finally given our first genetic diagnosis of PCDH19 Female Limited Epilepsy. Esmé is one of approximately 100 known diagnosed cases of PCDH19 FLE. Admittedly this was a great relief and extraordinarily devastating. It was especially difficult to swallow since we were also told that PCDH19 FLE would explain her drug resistant epilepsy and aspects of her developmental delay, but that the known presentations of the disorder do not include low tone and the feeding issues Esmé has had. This means that she may have a second disorder.

Over the years we have had more than one medical professional say that Esmé is the lowest tone child they have ever held or worked with.

When I say low tone, which is also referred to as hypotonia, I am not describing her strength. Esmé has be remarkably strong (although she does tire quickly). She can fight off the efforts to hold her still for medical procedures with startling power. What low tone refers to is her involuntary muscles. It means that if you extend her muscles beyond what they should do, she doesn't contract in resistance automatically. It means that she refluxes like crazy and doesn't have the coordination to swallow easily or safely. It means she cannot produce a large variety of sounds. It means that her joints slide out of place. It means that she can find herself in a full split with her feet facing the wrong direction.

In a more global sense, Esmé's hypotonia has significantly delayed her physical milestones. She was unable to hold up her head until she was a year old. At two she was still unable to sit without support. She uses a gait trainer and other adaptive equipment to help her gain independent mobility.

It does not appear as though Esmé's low tone would be explained by her diagnosis of PCDH19 Female Limited Epilepsy. However, as more cases of PCDH19 FLE are identified, it may prove to be on the spectrum of the disorder. In the meanwhile, we continue our search to identify another disorder and/or genetic mutation that may be contruibuting to Esmé's struggles.

Our story of getting diagnosed can feel like the stuff of an epic poem, with so many twists and turns and adventures. There is little doubt of who the hero of this story is. My daughter Esmé has battled with joyful determination through the various challenges that have appeared in her short 2 1/2 years. As a result, she has inspired everyone around her to be more loving, stronger, and more knowledgable than they ever thought possible.

Contributed by MOM Hillary Savoie- to follow Esmé you can find her on her webpage, blog or on Facebook

Mitochondrial Disease

Overview:
My daughter is diagnosed with Complex I mitochondrial disease. She was born healthy and full term with out any suspected problems. After a severe bout of pneumonia at 16 months she began to show signs that something was wrong.

Symptoms:
Audrey has chronic fatigue sleeping up to 23 hours a day. She has gastroparesis which began as dysphagia and now has progressed to the point she is TPN dependent with very little j-tube feeds. She has hypoglycemia and temperature instability. Audrey intermittently requires oxygen during sleep and play. She has mild developmental delays and is suspected of having auditory processing disorder though she is too young to diagnosis this.

Testing/Diagnosis:
Prior to her diagnosis, Audrey underwent an MRI, multiple blood test, urine organic acids, sleep studies and seizure evaluation. Results led to a suspected mitochondrial deficiency. She underwent a muscle biopsy which confirmed a complex I deficiency. She is waiting to undergo DNA testing at this time.

Treatment:
Audrey takes over 18 doses of medications each day. She is on the standard mito cocktail of carnitine, Co Q 10 and riboflavin, plus many others. She is also on TPN 24 hours a day and some feeding through her j-tube.

Resources:
curemito.org, mitoaction.com



Contributed by MOM Elsa Yedinak.  Check out Audrey's blog for more.

Pierre-Robin Syndrome with MRSA

Overview:
Pierre-Robin Syndrome is a condition most often diagnosed at birth. It is sometimes genetic. Pierre-Robin Syndrome occures in 1 in 33,000 births. It presents with a small mandible and a cleft palate occasionally with a cleft lip as well. The childs tongue is normal sized but falls backwards and causes the child to stop breathing.

Symptoms:
Inability to eat/bottle feed normally. Breathing difficulties

Testing/Diagnosis:
Visual diagnosis for Pierre-Robin Syndrome and culture testing for MRSA

Treatment:
Cleft palate repair, jaw distractions, tongue lip adhesion surgery, g-tube placement, possible tracheostomy, special bottles, therapy

Resources:
Unknown

Personal Story:
This is the story of our warrior that stole my heart the second she was born. My entire pregnancy with our daughter was strange. I couldnt keep down anything including water up until the day I delivered. I actually lost 35 pounds while I was pregnant. When I was about 25 weeks pregnant we had a 3-d ultrasound done. My husband and I were both concerned with how our daughters face looked. Her chin and her neck were literally running together. We questioned the Dr who assured us that she was totally fine. He said some babies just have small jaws. Our daughter was delivered at 39 weeks and 6 days. I will never forget the look on my husbands face. The only thing he kept saying was dont look down. My husband is my rock and I have never seen sheer terror in his eyes like I did that day. Our daughter was stuggling so hard to breathe that she was almost black. A few minutes later she finally started to breath. Once we were in our room with her she continued to have episodes where she would completely stop breathing. The nurses at first said she was fine but after a few hours took her to the nursery to put her on an O2 monitor just in case. She was desating into the 40s. Three days and one google search later we found out that she had Pierre-Robin Syndrome. Her Dr had never seen it before. Our daughter was kept in PICU for two weeks and then transferred by ambulance to a differnt hospital 4 hours away that would hopefully be able to help her. She had a tongue-lip adhesion to try to improve her breathing. It was unsuccessful and she was air lifted to a hospital in NC that would hopefully be able to help her. She had her first internal jaw distraction when she was about six weeks old. Her heart rate was at almost 200 her entire hospital stay. After numerous rounds of pain meds the nurses chalked it up to maybe that was her norm. We found out the next year that her heart rate was up so high because she contracted MRSA in the hospital after her jaw distraction. The MRSA ate the entire right side of her jaw including her jaw hinge. The pressure built up in her face so much that it blew all the nerves on the right side of her face. Our daughter had a rib graft put in a few years ago to make up for her missing bone. That has since gone horribly wrong. The graft started growing exactly like a rib. It turned her jaw sideways turning her teeth with it. Due to all her jaw surgeries her jaw is also in a fixed position making it very difficult for her to talk and eat. She has had 22 surgeries about 90% of which have been on her jaw with at least 2 more years of surgery to follow. Our daughter is truly one in a million. Through it all she has dance parties in her hospital room and rides a tricycle around her hospital unit for hours. We have never met another child even remotely like her. She is our mir-RARE-cle.



Contributed by MOM Jessica Thomas

Toriello-Carey Syndrome

Overview:
Extremely rare, as of fall 2012 I was told there are only 46 world wide, living. Global delays, oral defensive, short stature, immunosuppression, cardio-facial anomalies.

Symptoms:
As above. Heart involvement, my son has repaired coarctation of the aorta, ASD, VSD, bicuspid aortic valve. Missing teeth. Agents is of the corpus callosum. Pachyderm gyri, tracheal and bronchial malacia, parychimal malacia, feeding problems, frequent infections, short stature.

Testing/Diagnosis:
None Diagnosed by symptoms

Treatment:
Early childhood interventions. Treat symptoms as they appear. Treat infections as they present. Testing as needed for new symptoms. Mostly maintainance.

Resources:
None known to me.

Personal Story:
Patrick was adopted at age 18 mos. he had a trach, g-tube, vent dependent, trach dependent. He was happy, and still is. Very tiny, weighing 12 lbs. we sought out doctors as needed, with the PCP, pulmonogoligist, and GI docs already on board. His delays became prominent as he grew. He crawled at 2yrs 8 mos. sat at 2 yrs 6 mos. walked at 4yrs 3 mos. he spoke his first word at 9 yrs. he has a fairly decent receptive language, but a very small communication language. He has a small amount of ASL that remains garbled due to his under developed fine motor skills. He has a mild to moderate hearing loss. He was home schooled through elementary school, and now attends school 2 days a week for 4 hours a day. Illness and exposure keep him from further school, and he has very low endurance. I knew from the moment I met him at age 4 months that he was my son from another mother. He smiled at me, his first ever smile, according to his nurse. He was supposed to die at or before age 1, but our God and great physician has chosen to keep him here, and this year on July 4 he will reach 20 years old. We were told that he was blind and deaf, but he sees well with glasses, and can hear us, and others if they are near him. He had cataracts removed when he was 6, and had victrectomies at age 8. He is truly a happy lovable miracle who has little trouble getting his point across. I have been unable to make contact with other families dealing with this syndrome.

Contributed by MOM Barbara

Transverse Myelitis

Overview:

After my sons 5th birthday party we came home to play with all his new toys. That night he started complaining of a headache and said his legs felt sleepy, I treated the headache with Tylenol and we went to bed. The next morning he woke up completely paralyzed from neck down (c3) we are almost 2 years out with some recovery, this diseases is rare and there is only 2 doctors that really treats it.

Symptoms:
Legs feeling sleepy, headache, legs tingling, lose of bowl, and urine retention they can hit all the sudden or over a course of weeks or months.

Testing/Diagnosis:
Mri, spinal tap

Treatment:
High dose steroids, IVIg infusion, plasma pherisis

Resources:
John Hopkins TMA association and Kennedy Kriger institute in Baltimore

Contributed by MOM Anna Martin

Hirschsprungs Disease

Overview:
HD is a rare intestinal disease where the walls of the intestines are missing the proper nerve cells, which causes the intestines not to have movement. My daughter is about of the 10% in which this disease effects the entire colon.

Symptoms:
No bowel movements, major constipation, vomit/green vial.

Testing/Diagnosis:
Biopsy.

Treatment:
Surgery for an ileostomy at 1 month old, surgery at a year old to reverse the ileostomy, remove the large intestines, and pull the small through to the rectum.

Resources:
N/a

Contributed by MOM Ceaton Busch - check out Elynn's Facebook page for more.

Moebius Syndrome

Overview:
Moebius syndrome is a rare neurological disorder that is present at birth. It primarily affects the 6th and 7th cranial nerves, leaving those with the condition unable to move their faces (they can’t smile, frown, suck, grimace or blink their eyes) and unable to move their eyes laterally. Other cranial nerves may be affected, especially the 3rd, 4th, 5th, 9th, 10th and 12th. There may be skeletal involvement causing hand/feet anomalies and/or club feet. Respiratory problems, speech and swallowing disorders, visual impairments, sensory integration dysfunction, sleep disorders, and weak upper body strength may also be present. Approximately 30% of children with Moebius syndrome are on the autism spectrum.

Symptoms:
Lack of facial expression; inability to smile Feeding, swallowing and choking problems Keeping head back to swallow Eye sensitivity due to inability to squint Motor delays due to upper body weakness Absence of lateral eye movement Absence of blinking Strabismus (crossed eyes) Drooling High palate Short or deformed tongue Limited movement of tongue Submucous cleft palate Dental problems Hearing impairment Articulation / speech disorders Minor mid-line anomalies Club feet Hand/feet deformities

Testing/Diagnosis:
Clinical diagnosis. There is currently no genetic test for Moebius.

Treatment:
Infants sometimes require special bottles (i.e. Special Needs or Pigeon Feeder) or feeding tubes to maintain sufficient nutrition. Strabismus (crossed eyes) is usually correctible with surgery. Children with Moebius syndrome usually benefit from physical and speech therapy to improve their gross motor skills and coordination, and to gain better control over speaking and eating, as well as occupational and sensory integration therapies. Limb and jaw deformities may often be improved through surgery. In addition, plastic reconstructive surgery of the face can offer benefits in individual cases. In that surgery, nerve and muscle transfers to the corners of the mouth have been performed to provide an ability to smile.

Resources:
http://www.moebiussyndrome.com

http://www.manyfacesofmoebiussyndrome.com

Personal Story:



Contributed by MOM Jennifer Akers

Foxg1 Gene Disorder on 14q12 gene (Congenital Variant Rett Syndrome)

Overview:
FOXG1 is a severe neurological condition characterized by seizures, small head size, inability to control body movements, and lack of speech. The majority of our children cannot walk or talk. They cannot feed themselves and they struggle to communicate their most basic needs.

Symptoms:

• Inconsolable crying within the first year of life


• Partial or complete agenesis of the corpus callosum


• Developmental Delay


• Teeth grinding


• Enlarged ventricles in the brain


• Irregular involuntary muscle movements


• Microcephaly


• Seizures


• Spontaneous laughter


• Cortical Visual Impairment


• Strabismus


• Higher pain tolerance


• Higher susceptibility to illness


• Constipation


• High and low muscle tone


• Regression -very rare


• Swallowing issues


• Sleep disturbances


• Nonverbal or minimal word approximations


• Reflux


• Temperature issues


• Low tolerance of heat


• Flushing


• Exceptional love of water and music


• Hand washing motions


• Small hands and feet


• High palates

Testing/Diagnosis:
Testing is available through a blood test

Treatment:
None

Resources:
Foxg1.com
International Foxg1 Foundation page on Facebook

Story:
I'm Heather, Vice President of IFF and here's my story!

On February 15, 2004 my husband, Greg, and I welcomed our beautiful baby boy, Jacob into the world. He was five weeks early and spent two weeks in the NICU. We knew when we brought him home there would be some delays; however they never really resolved. At six months old Jacob's Pediatrician ordered an MRI. We then discovered that he was missing brain tissue, and would have mental and physical disabilities for the rest of his life. He cannot talk, walk, feed himself, is legally blind, has seizures and a small brain, asthma, severe reflux, and global developmental delay. He functions at about an 8-12 month level and is almost 9 years old. However, Jacob is the happiest kid in the world~ his giggle is pure, unadulterated joy.

Needless to say, it was a bit of a shock. We began to see Neurologists, Ophthalmologists, Gastroenterologists, Orthopedists, and also had Speech, Vision, Physical and Occupational Therapists coming into our house several times a week. While trying to get our feet back under us and learning how to deal with all this, at 18 months old Jacob began to have seizures- his first one was 3 hours long. It was quite probably the most terrifying moment of our lives. We were so helpless- we didn't know if Jacob was going to make it- and if he did, would he be different? Thus began the first of Jacob's many hospital stays, and yet another road-less-traveled for us. After about a year of trial and error on different meds, we finally found a med cocktail that controlled the seizures for the most part.

Things were hectic for awhile, but stable. Jacob started pre-school in 2007 and finally began sleeping through the night (woohoo!!). We then had our baby girl, Anna in 2008 who is an amazing gift-although she does make us want to pull our hair out at times!

In 2009, when we finally made the decision to have a feeding tube placed because of oral motor issues and medication side effects causing decreased appetite, leading to a diagnosis of failure to thrive. It made a huge difference in Jacob’s and our lives, all for the better. In 2010, we were truly blessed to have Jacob approved for a Make-a-Wish trip based on his life-threatening seizures. The four of us plus an aide went to Disney- it was the most magical experience of our lives!

Throughout this whole process, Jacob continued to struggle with seizures. We never knew when they would come, how severe they would be, and whether or not the emergency meds would work. More often than not we had to call 911 as the meds became less and less effective. We eventually learned to live with the "always waiting for the other shoe to drop" sensation, and tried to live our lives as typically as possible. Finally, in August of 2012 we decided, along with Jacob's Neurologist, to have a Vagal Nerve Stimulator implanted for seizure control. It's basically like a pacemaker for the brain, and every five minutes it turns on, sending a 30 second pulse to the brain in an attempt to break up any potential seizure activity. As a result, Jacob's seizures have definitely reduced in frequency and severity. For the first time in almost eight years, the Neurologist has begun lowering one of the three seizure meds, and between that and the implant, we are seeing some increased cognitive function. For the first time, Jacob has begun to talk. He has just started responding with the sound "ay" when his friends and family say "Hi Jacob!" It is the most amazing sound in the world!

The reason I tell you all this is because while all this was going on, we were still searching for a diagnosis. We had been told previous to having our daughter that Jacob has some kind of genetic disorder, although no one could figure it out. We continued testing as the years went on, until one day we got a call- Jacob has Foxg1 Gene Disorder. We poured the internet for more information no avail- we had a name, but the genetic mutation was only just discovered and no signs, symptoms and treatments were available. Our secretary, Stefanie, started a group on Facebook, and the rest, as they say, is history! Over the past year, we have found 34 other children diagnosed with Foxg1 in the world, but there is still very little information available.

We decided to do something about that. This year, myself and 5 other Foxg1 moms formed the International Foxg1 Foundation. Our Mission is to provide support to families with an individual diagnosed with Foxg1; to educate the medical community and public about this disorder; and to provide funding to the three Neurogeneticists who have formed a team and study Foxg1 in the hopes of someday discovering treatments and a cure.

Greg and I are truly blessed to have Jacob and Anna. They have taught us how to life in the moment, to appreciate the small things and to truly see what is important in life. We are one of the many faces of Foxg1, and we can’t to see what the future holds!

Contributed by MOM Heather Norwood

MAE - Doose Syndrome

Overview:
MAE typically known as Doose Syndrome, is a rare form of Epilepsy. With 1-2 children being diagnosed out of 100 children with epilepsy. MAE is much like Lennox-Gastaut Syndrome (LGS) with the difference of the Myoclonic-Astatic seizure type. Due to the risk of head injury from the drop seizures a protective helmet is worn at all times some may even be in a wheelchair at times because of the 100s of drops in a day to reduce the risk of injury.

Symptoms:
MAE shows to be difficult to treat seizure activity, ranging with several types of seizures and often experience 100s a day. Myoclonic (drop seizure) or Myoclonic-Astatic (drop seizure with muscle loss) seizures are rare and unique with diagnosing MAE. 100% of children diagnosed with MAE will experience one or both of these seizures. Typically a child will have no prior neurological issues and begin having seizures suddenly (onset age of 3) between the ages of 1 and 5.

Testing/Diagnosis:
An EEG reading of a child with MAE typically has a specific Hz pattern.

Treatment:
It is very rare, to have a few medications control seizure activity so several medications are needed along with other treatments. The ketogenic diet has shown a great success reduction rate for many. Other treatments include VNS and/or brain surgery.

Resources:
Epilepsy Foundation Doose Syndrome Foundation and Dallas Childrens Medical Center

Personal Story:
Camryn began having seizures just before his 3 birthday, it was a morning that I will never forget. That first seizure (tonic-clonic) seemed to show up from nowhere and within 2 weeks my healthy and normal little boy was fighting a battle with Epilepsy and 100s of seizures a day, ranging from tonic-clonics, myoclonics, tonics, atonics, absence and other types of seizures recorded on EEGs that we still dont have a name for. We began seeing regression and slower EEG readings and no answers on WHY!?! His resistance to medication was overwhelmingly horrific. Taking 369 pills a month and still having seizures on a daily basis. When the medication was taken away for a VEEG, he experienced status-epilepticus (convulsive and non convulsive) lasting 3 days with zero effects from the emergency medication. It was shocking to me that I assumed the 369 pills a month were doing nothing and then seeing that within just 12 hours without them could possibly be life threatening! Camryn has been on the Keto genic Diet and showed zero improvement as well as the VNS therapy. The VNS is our new HOPE. It is new for us so only time will tell, but we have seen some improvement. He is talking much more now and begining to progress instead of regress. Camryn is a HERO to me and has a smile of pure innocense that I wish the world could have. He is so strong and has been through so much, but when the seizures seem to disappear for even just a few hours he can light up a room with his joy. He may not be "normal" like other kids his age but he IS UNIQUE.



Contributed by MOM Amber Fuller

Undiagnosed

Overview:
My daughter Isabella Cate Wimpsett was born at 26 weeks unexpectedly (Placental Abruption). She was diagnosed with bilateral grade IV IVH. Bella Cate has since had a feeding tube placement, a VP shunt placement, several sets of subdural drains due to subdural hematoma that she developed. She has had meny sets of Botox injections and bilateral hip adductor releases.

Symptoms:
Universal developmental delays, Spasticity of all limbs, hypotonic trunk, seizures,

Testing/Diagnosis:
many CT scans, MRI, Xrays, ultrasounds, blood tests

Treatment:
PT,OT,ST, Baclofen, splinting, Botox injections, Keppra (for seizures)

Resources:
Kosair Childrens Hospital, Shriners Hospital



Contributed by MOM Amber Wimpsett

Undiagnosed

Overview:
While in utero Andrew suddenly stopped moving and using his muscles. When he was born via c-section since he was breech, he was immediately intubated and brought to the NICU where he spent the first 103 days of his life.

Symptoms:
Neuromuscular - Extremely low muscle tone, does not swallow & barely moves, Trached & Vented full time, G-tube feeds, frequent suctioning, contractures of the wrist joints and no knee, ankle or elbow joints, hip displasia

Testing/Diagnosis:
Andrew has had numerous blood and genetic tests done. Doctors wanted to do a muscle biopsy during his g-tube surgery, but there was not enough muscle to take.

Treatment:
PT, OT, Speech

Resources:
Rhode Island Parent Information Network, Hasbro VIP Clinic

Personal Story:
When Andrew was born 5 weeks early, we did not know what to expect. There was a brief moment when we locked eyes before they whisked him away to be intubated and brought to the NICU. Andrew went through more in his 3 1/2 month NICU stay than most people go through their whole lives. He was poked, prodded, head shaved, got sicker, was extubated twice - on accident, had both his arms fractured & had 5 surgeries in 1 day. Once he was trached, however, he began to thrive! He would communicate using his eyes since he made no sounds. I trained daily to learn how to care for him at home and eventually that day came. Andrew has had some ups and downs since being home, but nothing too severe. He is now almost 5, a big brother and in Pre-K at school. He is working with a computerized eye gaze device in order to communicate. He still has extremely limited movements, but can tell you a story with his eyes. He is still undiagnosed, but shows us daily how he knows more than we can imagine and it is only getting better!



Contributed by MOM Tara Townsend

Mosaic Triploidy

Overview:
Mosaic Triploidy is a chromosome disorder where the person has an extra of every chromosome on some of their cells. There have only been 50-60 cases ever recorded worldwide.

Symptoms:
Syndactyly between 2 toes on each foot Small jaw Large head Low muscle tone Slow weight gain/failure to thrive Curved wrists and feet 2 types of scoliosis Low set ears Constipation

Testing/Diagnosis:
Amniocentisis at 19 weeks.

Treatment:
There are no treatments for the disorder itself. We treat the symptoms he has and will have. He sees physical occupational and speech therapy as well as a nutrionist. He goes to his pediatrician every other week for weight checks and goes to special care clinic once a month. In March he will have an MRI and body cast for the scoliosis.

Resources:
There is not much information. The most support I have had is from a group on Facebook.

Personal Story:
My son has Mosaic Triploidy. There are only around 50 recorded cases ever in the world. On November 1 2011 I took a pregnancy test because I had been having symptoms for a few weeks. My husband was adament that I was not pregnant because I had the Mirena IUD placed in 2009 and it is supposed to last for 5 years. The first as well as second test showed positive immediately. I cried all that day because I knew we just could not afford another child. Josh said not to believe it until we had an ultrasound showing the baby. We went to the doctor 4 times before we could see Castan. Everything went well other than he always hid from the heart doppler. AT 15 weeks I could not wait any longer to find out what we were having so we went to get a 3D/4D ultrasound done. We were ecstatic to be having a boy having 3 girls already and losing a son. At 19 weeks we went to my midwife for an anatomy scan. There we discovered that Castan was not growing correctly. His head was only 2 weeks behind but his chest and abdomen were about 6 weeks behind. I immediately started crying because I knew something was wrong. Josh tried to stay positive and told me I was just paranoid. Sue my midwife ordered that we go see the perinatologist. We went there that Friday. He insisted on an amniocentisis. He was pretty sure our baby had Down Syndrome. I was not sure if I wanted an amnio because I was scared of the results. He pressured us so we decided to get it done. 2 weeks later (at 21 weeks) he called us to his office. He told us that Castan had full blown Triploidy and would not live. He said I was too far along to "terminate the pregnancy" even if I wanted to. We were devestated. I did not like how he delivered the news so I got a second opinion where the doctor informed us he actually has the mosaic form of Triploidy and had a chance to live but would most likely be still born. This was was still not the news I wanted. I started researching everything I could get my hands on. I wanted to know everything about DTM. It is such a rare disorder that there is very little information out there. I joined a group of family members of babies with DTM. I started a fb page to show that we were not going to give up on him. My water broke at 29 weeks where we were told that Cas only had a 10% chance to live bc his lungs were not going to be developed due to my water breaking and him being so extremely tiny. On April 27 Castan was born weighing 1 lb 12 oz and was 14 inches long. From day one he has been a fighter. A few days after he was born his doctor told me he did not expect him to live. I did not understand because all of his tests had shown he was doing amazingly. The doctor said he would not live because he was "so small." I told him I chose to believe differently. The doctor tried to quote the statistics of full blown Triploidy to me. Full blown is incompatible with life and has the longest recorded case living to 10.5 months. Every statistic he quoted me I corrected. I did not want this doctor giving up on my son just because he did not understand his disorder. Today Castan is a little over 7 months old. He is 5 lbs 8 oz 19.5 inches long. Every day he amazes me. The doctors told me he would have extremely low muscle tone and would develop way slower than "normal" babies. He started rolling over about a week or so after we got home which they said he would not do until 7 or 8 months. He smiles. He coos. He does everything a normal baby can except hold his head up and sit up. He also grows very slowly. In 5 months he has not even gained 5lbs

Contributed by MOM Christine Brown. For more information click HERE.