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.