Aperts Syndrome

Overview
Aperts Syndrome is a multi-faceting condition caused by a mutation of a chromosome. Most mutations occur randomly, but then it becomes a dominant trait. So then the person affected has a 50/50 chance of passing it on to their child.  Aperts Syndrome occurs in 1 out of approximately 160,000 live births.

Symptoms
Aperts Syndrome is pretty obvious at birth as the child is born with webbed fingers and toes as well as a retruded midface. The plates of the skull tend to fuse together prematurely, putting pressure on the brain. Joints can be stiff or fused. Typically the middle knuckle is missing in all of their fingers. There can also be heart and kidney problems. Often there are vision and hearing problems as well. Many suffer from sleep apnea due to the abnormal craniofacial features and smaller airways. A high arched or cleft palate and overcrowded teeth are very common. Intellectual abilities vary.

Tests/Diagnosis
Aperts is pretty apparent at birth, however, since it is a pretty rare condition not all pediatricians are able to diagnose it immediately.

Treatments
Treatment for the various facets of Aperts Syndrome includes typically over 20 surgeries by the age of 18. Speech, occupational, and physical therapy also significantly help the child to function.

Craniofacial surgeries are done to separate the plates of the skull which fuse together prematurely (Craniosynostosis), draw the bones of the midface forward and reshape the skull. Oftentimes the child will wear a helmet to keep the top of the head from growing abnormally wide. Several surgeries are done to separate the webbed fingers as well as straighten out thumbs and big toes. Often a child will also undergo surgery to realign the eye muscles. Orthodontic work is also necessary. Many children also get a trach due to breathing issues.

Resources
http://www.apert.org/
http://www.faces-cranio.org/Disord/Apert.htm
http://www.thecraniofacialcenter.org/apert.html

Several groups on Facebook:
https://www.facebook.com/#!/groups/apertsyndromeawareness/
https://www.facebook.com/#!/groups/apertusa/

Personal Story

My son Matthew is a trooper! He is 6 years old and about to undergo his 7th surgery. This year alone he will have three surgeries! And yet the child keeps on smiling and laughing. He has an insane amount of curiosity and energy as well as mad problem solving skilz!

Matthew has had surgeries to correct his craniofacial issues, webbed fingers, bent big toes, and eye muscles. He also has progressive hearing loss due to the bones in his ears which are calcifying. Matthew's shoulders are out of socket, which decreases his range of motion. Sleep apnea has also been an issue for him, as well as a contributor to his ADHD.

Matthew's most recent surgery was in January of 2012 where metal distractors were placed in his head (and turned every day for 30 days or so) to push the bones in his midface forward. He had a trach while he was in the hospital, but was able to get it removed before being discharged. As you can probably imagine, the craniofacial surgeries carry the most risks.  This time around we experiences some of those... Matthew sat up the day after surgery and his trach slipped out and his airway started to close up. He also contracted meningitis while in the hospital.  Then a couple weeks ago he had to be rushed to the ER via ambulance because of airway problems.

It has been a scary road at times, but overall I am grateful for the blessing of raising my little miracle boy. He reminds me what is most important in life (the people!) and not to sweat the small stuff. Despite all the trials, we are so blessed!

If you want to read more of our story, check out my blog about my journey as a single mom of a special needs child:

Contributed by MOM Selena LaBerge- to read more about Mathew check out his BLOG

Chronic Mucocutaneous Candidiasis (CMC)

Overview
CMC is a less common PID (primary immunodeficiency) CMC is associated with a selective T-cell deficiency to Candida and a few related fungi, but otherwise their immune system is fine.

Symptoms
persistent Candida (fungus), infections of the mucous membranes, scalp, skin and nails, but not of the blood stream or internal organs.

Tests/Diagnosis
The most common abnormal lab test is a negative delayed hypersensitivity skin test to Candida antigen, despite widespread Candida infection.

Treatments
These infections respond to anti-Candida treatment but recur when the treatment stops.  A few CMC patients develop severe hepatitis or bronchiectasis. Treatment requires life-long antifungal medicines.

Resources
Canadian Immunodeficiencies Patient Organization-CIPO

Personal Story

Our two boys were just diagnosed with CMC, after years of unexplained illness.  Both have candida in their esophagus, our youngest is responding to treatment, our older son is not.

Contributed by MOM Erin H

Undiagnosed

Overview
Keean has struggled with absorbing nutrients, has damaged villi, doesn't respond to immunizations and can't tolerate more than 38ml's and hour or he throws up.  He does not act hungry and could go without eating for an entire day.  He also has chronic diarrhea. Keean would not eat enough to gain weight on his own and associates food with pain so he had a feeding tube placed in September.  At first he just had formula pumped into his J tube, but eventually was able to tolerate all his feeds through his G tube.

Symptoms
-Chronic diarrhea
-Fatigue
-Lack of response to immunizations
-Vomiting
-Damaged Villi
-lower muscle tone (can sit up and bare weight on his legs but will not pull himself up or sit in a crawling position for long).  Less strength in his arms than legs.

Tests/Diagnosis
Keean has been tested for numerous diagnosis.  Some include:  Cystic Fibrosis, Microvillus INclusion, Auto Immune Enteropathy, Maple Syrup Urine disease, kidney disease, thyroid disease, immune deficienccies and has had an MRI to see if there was any visible cause of low muscle tone.  He has had numerous endoscopies where biopsy of his small intestine have been taken, but NOTHING has shown any sign of ANyTHING.  We have been to a geneticist and have had genetic testing and have donated many ounces of his blood looking for answers.

Treatments
Keean has a feeding tube so he intakes enough calories to gain weight and is on previcid for reflux.  Because there is not yet a diagnoses, he is not being treated for any other symptoms.

Resources
Midwest Immunology Clinic, Children's Hospital and Clinics --Minneapolis and St. Paul, Neurology clinic, St. Paul Gastroenterology, Genetic clinic of St.Paul.  I have also found different online support groups through facebook.

Keean's Story
Keean was born full term weighing 6lbs 12oz and was 20 inches long.  When still at the hospital after birth he threw up, but that was considered "normal" and we were sent home after 2 days.  Keean lost 2 ounces before we were discharged (again considered normal).BUT when we went to our first check up he had lost another 2 ounces.  That started our journey of weekly weight checks.  He slowly became more irritable and was switched to nutramigen because they diagnosed him with a protein allergy.  He was tested for pyloric stensosis, had an xray and ultra sound of his stomach and of his heart and an upper GI.  The only thing that came of those tests was they noted his stomach was "slow to empty" and he had severe reflux.  Keean continued to struggle gaining weight and was puking numerous times daily.  He wouldn't eat enough to gain weight and if he ate 2 ounces he'd throw up 3.  At 2 months old we were admitted to Children's Hospital where they ran several tests (all of which came back negative). We had to force him to eat every 4 hours and pray he would keep it down.  While at the hospital he came down with the enterovirus and started malabsorbing sugar.  He was placed on a carb free formula and put on TPN because he was losing weight quickly  At 3.5 months Keean only weighed in at 9lbs. 8oz. which is less than 3lbs since his birth.  While at children's he had an NJ tube placed to help him get enough nutrients and   because it was down his throat made him gag and puke constantly so I insisted on a permanent feeding tube (GJ).  This was placed in September and when he was able to gain weight off a very high amount of calories of just formula and no TPN we were able to take out his TPN line and go home.  Keean continues to doctor because he has chronic diarrhea, damaged villi, a weak immune system and low muscle tone.  He has not been responding to his immunizations and will bare weigh on his legs, but won't put weight on his arms or pull himself into a standing or crawling position. He will be 10 months old on April 2 and weighs 17lbs 5oz and has not gained weight in over a month.  He has been puking more again and last week was malabsorbing sugar again. We are patiently waiting for answers or looking for some direction due to all sorts of negative tests.

Contributed by MOM Ashley Hanson

ESES - Electrical Status Epilepticus of Sleep

Overview
ESES - Electrical Status Epilepticus of Sleep is a rare form of epilepsy that produces subclinical (unseen) seizures during sleep. This type of epilepsy is characterized by the presence of generalized 1-3 Hz spike-wave discharges occupying 85% or more of the EEG of non-REM sleep.  Visible, clinical seizures may also occur, but not necessarily.

Symptoms
The epilepsy: The age at which the first seizure occurs ranges between 2 months (Dalla Bernardina et al 1989) and 12 years (Bureau 1995), with a peak around 4 and 5 years (Tassinari et al 1985). This event can be preceded by either normal psychomotor development or abnormal signs indicating pre-existing encephalopathy, such as hemiparesis, hemiplegia, spastic quadriplegia, diffuse hypotonia, and ataxia.

The seizure types occurring in the disorder can be both partial and generalized. They include unilateral or bilateral clonic seizures, generalized tonic-clonic seizures, absences, partial motor seizures, complex partial seizures or epileptic falls. They may occur during wakefulness or sleep. Tonic seizures, however, never occur.

The first seizure is reported to be nocturnal and of unilateral type in almost one half of the cases reported. At onset, the frequency of seizure attacks is low. At the time of discovery of the typical nocturnal EEG pattern, however, the epileptic seizures frequently change in severity and frequency. Absences and epileptic falls herald the appearance of continuous spikes and waves during slow sleep and seizure frequency increases, both during wakefulness and sleep. About 60% of patients also exhibit several types of seizures (Tassinari et al 1985; 1992).

Neuropsychological deterioration:  There is a constant and severe deterioration in neuropsychological functions associated with the disorder, and language capacity can be particularly affected. Patients also may show a profound decrease in intellectual level, poor memory, impaired temporospatial orientation, reduced attention span, hyperkinesis, aggressive behavior, and even psychosis (Jayakar and Seshia 1991; Tassinari et al 1992).

Motor impairment: Motor impairment, in the form of dyspraxia, dystonia, ataxia, or unilateral deficit, has been emphasized as one of the outstanding disturbances occurring in this syndrome (Dalla Bernardina et al 1989; Neville et al 1998).

Tests/Diagnosis
The best form of diagnosis is an all night sleep study EEG.  A diagnosis may be given through a shorter sleep deprived EEG, but and all night study is best.

Treatments
At this point in time there is no one drug in particular that works in every child.  Many times it is very difficult to find a medication that works at all.  In our specific case our daughter is responding remarkably well to Kepra.  Kepra is generally NOT one of the recommended medications for this type of seizure, but in her case it is working wonderfully.

Resources
Because this is a very, very rare form of epilepsy there is very little information out there.  Even many neurologists are unfamiliar with the disorder.  We were very fortunate to find a doctor who was familiar with and recognized ESES when he saw it.
There is very little information available on the internet that is not highly technical.  Here are a few of the most helpful web sites I have found:

http://www.ilae.org/visitors/centre/ctf/electric_stat_slow_sleep.html
http://articles.complexchild.com/aug2011/00322.html
http://www.nattsumi.com/epilepsy-treatment/syndrome-of-electrical-status-epilepticus-during-slow-wave-sleep-eses.html

Lily's Story

All I can say is that God was watching out for our little girl.  It is my very strong belief that this condition would have gone undiagnosed, possibly her entire life, if she had not had two actual clinical seizures this past summer.

We adopted our daughter at 16 months of age from China, aware that she had some fairly significant developmental delays.  She was at about a 3 month level developmentally when we got her and could barely hold her own head up.  She weighed 15 lbs.  She had the blessing of excellent care which made her condition that much more concerning.

We went through the standard battery of tests when we came home and the only things that showed up were obvious problems that we were aware of, 80% blocked ear tubes and bilateral club feet.  She didn't even register on the growth chart for weight or height.

A year went by and we made very slow but very steady progress.  A three steps forward two steps back kind of pattern, but she would always forage ahead.  We sought out a new pediatrician at that time because of our daughter's lack of weight gain.  She ate, and ate, and ate but gained hardly anything.  She went through several crazy growth spurts where she grew inches in height, but again, gained no weight.  Her muscle tone was very low to nonexistent adding to her struggles to move ahead.

The new pediatrician immediately diagnosed her as PDD-NOS (pervasive developmental delay - not otherwise specified) and Failure to Thrive and sent us for new, more in depth testing including a brian MRI and a complete genetic work up.  Because we have no family history he felt it was very important to do the genetic testing.

While we were waiting for those tests to come back Lily had her first febrile seizure.  My husband and I are both EMT's.  We see febrile seizures all the time, and while we were very concerned since it was happening to us, we knew that febrile seizures are very common and not really anything to get worked up about.  She went to the hospital and everything checked out fine.  She ran a fever for a couple of days and everything went back to normal.  Two weeks later another identical seizure, but no fever.  Luckily it happened in a hospital (I was in having surgery, go figure?!?!) so my husband immediately rushed her to the ER where they ran a CAT scan and did a full blood work up.  Everything was clear, they sent her home on anti-seizure medication.

At this point, however, her pediatrician immediately requested a consult with the Children's Hospital in Milwaukee Neurology Dept. to set up an EEG.  Once a child has a seizure that is non-febrile, or a second febrile seizure and EEG is standard protocol.
To make a long story short, they did the EEG and found "abnormal brain activity" while she was sleeping, handed us a prescription and said see you in 9 months.  Not pleased is a very mild description of my reaction to their concern for my child.

We immediately requested a 2nd opinion and were referred to the University of Wisconsin Madison.
While we were waiting to get in for the 2nd opinion we did continue to give the anti-seizure medication that was prescribed by the original ER doctor and neurologist.

We immediately, upon starting the medication (Kepra), began to see global improvements in our daughter.  Every single aspect of her being started to come alive, that is the only way I can describe it.  Cognitive, emotional, developmental, you name it, it improved.  Her strength and her weight both started to increase.
We met with the new neurologist last October for the first time.  After a 2nd EEG he diagnosed her with ESES.  Basically ESES causes conditions in the brain that make it as if the brain never gets to sleep.  The body may be sleeping like normal on the outside, but inside, the brain is having an electrical storm of massive proportions.   We all know what happens to us as adults if we don't get enough sleep.  Try that every night for your whole, short, little life when you are trying to learn and grow and it is a very, very bad outcome.

Thankfully we found this early.  Lily is thriving right now and has every chance at a full recovery.  She still has a lot of catching up to do, but God gave her a spirit of strength and determination that is unmatched by anyone I have ever met.  I just pray He gives me the strength to keep up with her!

Don't ever give up home on finding answers for your child.  God loves you and he loves your child.

Contributed by MOM Jennifer Thoreson