Epilepsy Association of Utah

Rare Diseases

Rare Disease Story: Jeremiah

Lennox Gastaut Syndrome

Jeremiah was born healthy, except for a bit of jaundice that cleared up with bili lights after a week. He had the normal childhood illnesses and was on track with his milestones. At age 2 1/2, he was finally big enough to move from a crib to a toddler bed. On Sunday, August 24 2008, my then 15 year old son went to put Jeremiah to bed. He was laying down with him, trying to get him to sleep when he said that Jeremiah dropped his bottle so he picked it up. It was then that Jeremiah started shaking so he thought that Jeremiah was cold and he pulled the blanket up. But Jeremiah wouldnt stop shaking and he started making noises. He turned the light on and noticed that Jeremiah was having a seizure. Alex came running into my room and said: “Jeremiah is having a seizure!” I said,  “How do you know its a seizure?” and told my husband I would go check on him to find out what was going on. I saw Jeremiah in a full blown tonic/clonic seizure. I yelled for my husband and, after he came running in, I called 911. That was Jeremiah’s first of MANY seizures to come. 
3 weeks later, on a Sunday night, he had another seizure at bedtime. At that point, we took him to a neurologist at Primary Children’s Medical Center. They got him in for an EEG and when we got home, he had his first day time seizure. He was standing up in the dining room about to get lunch, dropped to the floor and had a seizure. 
After 3 months of sporadic seizures, they admitted him to the hospital for an over night eeg. It was early December. They had enough information after an hour but decided to keep him hooked up and finish the 24 hour eeg. We found out that he was even seizing while carrying on a conversation with the doctor! After that EEG, Jeremiah was diagnosed with Lennox Gastaut Syndrome. 
Jeremiah then took a turn for the worst: he was in the hospital in Status Epilepticus every month for a week or more, sometimes twice a month, for an entire year. 
In February of 2009 he was started on IVIg. In March 2009 he had the VNS placed. We were to the point that he was on 6 oral meds plus IVIg. He was like a zombie. He stopped talking, went back in diapers and 100% bottle fed. While in Status, he was having over 300 seizures per day, and over 100 when not in Status. My parents started the plot search and the doctors didn’t think he was going to live. The prognosis was not good. No one ever thought he would get potty trained, talk or even learn. We were told to expect him to be a toddler his whole life. He stopped growing and putting on weight. 
Today, Jeremiah is a healthy 7 year old. He is in first grade and doing well! He goes in every 2 weeks for his IVIg infusion and is on 2 oral meds. He is also taking an experimental medication. He was potty trained 2 weeks before kindergarten and off the bottle in January 2012. He is talking and learning, but in a functional skills class due to his being behind. He is a 2 year old mentally. He talks like a 2 year old, and it is hard to understand him at times. But, he defied the odds and he is thriving! He is down to about 20-30 seizures per month. We see the light at the end of the tunnel now, where a few years ago, we didn’t. 
LGS no longer defines who Jeremiah is.

Rare Disease Story: Sophia

Angelman Syndrome
This little love is eight-year-old Sophia. She loves animals,
playing in water and making new friends and she has Angelman Syndrome. Angleman Syndrome (AS) is a neuro-genetic disorder that occurs in one in 15,000 live births and is characterized by
developmental delays including difficulty speaking, seizure disorders, and
symptoms of autism, cerebral palsy and even more. However, individuals with
Angelman Syndrome are often full of smiles and laughter, leading to the term: “Happy
Puppet” and Sophia is no exception. Please support and celebrate Sophia and all
those who are affected by rare diseases this Thursday, February 28, for Rare
Disease Day. For more information on Angelman Syndrome, please visit www.angelman.org.

Rare Disease Story: Isaac

Dravet Syndrome

Isaac Sintz was born on August 5, 2006.  He was born a healthy child with no complications.  

At the age of 6 months he had a febrile seizure after immunizations.  Again at 9 months and 12 months Isaac had febrile seizures with immunizations.  At that point we stopped immunizations and we were told that he would outgrow the seizures.  He did stop having seizures.  He was in preschool reading and writing and doing very well.  He was even advanced for his age.  He had developed and progressed completely normal, until he was 3 1/2 years old.  

In December of 2009 Isaac had a non-febrile seizure at a birthday party.  It was a tonic-clonic seizure that seemed to last for hours, but in reality was maybe 4 minutes.  We have no idea why he would have a seizure completely out of the blue after all of these years.  After going to the emergency room, they told us his EEG was normal and he would still outgrow the seizures.  Exactly two weeks later he had another seizure.  After another trip to the emergency room, they then diagnosed him with epilepsy.  This was heartbreaking.  Why was my son, that was otherwise so healthy, having seizures?  

He began having seizures every day.  All of the seizures being tonic-clonic.  He was seizing and sleeping and never coming out of it.  He was put on a medication that didn’t help his seizures, but started to cause horrible fits of rage, crying, and horrible body pain.  Two weeks of that and we stopped that medication.  We continued doctors orders, trusting that they would be able to help my son and stop the seizures.  

Once again, the medication did not help control seizures at all, but caused horrible side effects.  

During the next couple months his seizures picked up pace at full speed.  He would seize every hour and then sleep, seize and sleep non-stop.  He wasn’t waking up to eat or take meds.  We were shoving meds down his throat to get him to take them.  We had to syringe fluid in to his mouth to keep him hydrated.  We were in the hospital for two weeks, out for one, in for three weeks, out for one, etc. for three months.  The doctors had no idea what was wrong with him.  They would get him stabilized and send us home.  The minute we were home, the nasty cycle would start all over again.  The rescue meds stopped working because we were using them so frequently.  Even when he was awake it was like he wasn’t alive.  He wasn’t able to talk or communicate to us.  We were carrying him around because he couldn’t walk.  He was back in a diaper.  

At one point, after being in the hospital on and off for months, they told us he would never walk or talk again.  Once again our hearts were shattered.  But there were no answers as to what was wrong with him.  Why was he having all these seizures and losing all of his abilities???  Finally they did some genetic testing while he was in the hospital.  We then got a call to tell us that he had Dravet syndrome.  

I had never heard of Dravet syndrome.  I immediately started researching this disease.  It was worse than anything I could have ever imagined.  The information I found told me that my son was going to have intractable epilepsy for the rest of his life despite medication.  That there was a high fatality rate and that he would not live in to adulthood.  That he would be mentally and physically disabled.  That my once healthy normal child would never be the same again.  We went through the grieving process.  We had lost the child that we once new. It felt like our world had been completely shattered, fearing the unknown and the unexpected.   

We love our Isaac more than words could ever express.  Our Isaac is just a new Isaac.  We have a new normal.  Our life has completely changed.  Because of Isaac’s seizure threshold we are not able to live as we used to.  

Isaac now has failure to thrive and is fed through a g-tube.  He doesn’t regulate body temperature and has seizures when he overheats.  He has ataxia and falls and hurts himself very easily, etc. We have to be very prepared every time we leave the house for any kind of emergency.  We can’t do a lot of the things we used to do because Isaac can’t mentally or physically handle the strain and commotion.  But, through these challenges, our family has grown closer together.  We don’t take anything or anyone for granted.  We appreciate each other more fully and respect each other for all that we have to sacrifice for each other.  We are loving each other through new and improved eyes.  This has changed us all for the better.  We have learned valuable life lessons and met incredible people dealing with similar things that we would have not met under any other circumstances.  We are so blessed.  

Isaac is doing much better now.  After meeting with doctors who specialize in his disease, we have been able to get him the treatment he needs.  Isaac is walking, talking, riding his bike, and going to special needs school.  We have also learned that there is more hope for Isaac with the more recent research on the outcome of the disease.  We have hope.  He may never learn to read or write, but he is still our little ball of fire that we are able to put our arms around and hug every single day.  To see his smile, makes it all worth it.  He is our Isaac and we love him more than anything in this world.

– April Sintz

Rare Disease Story: Isabelle

Rett Syndrome

This is Isabelle. She is 8 years old and has
Rett Syndrome. Rett Syndrome is a rare genetic condition that affects almost
exclusively girls and includes symptoms of Autism, Epilepsy,
Parkinson’s syndrome, Cerebral Palsy and anxiety.

Isabelle “Izzie” Knowlton came into the world on October 29,
2004 to join her siblings, Emily and Tom. She was small at birth and the nurse
exclaimed “What a little peanut!”.  Peanut has stuck ever since. After 6 days of
life, Izzie gave us quite the scare; she was blue in her crib. We know now that
was her first seizure. After a week in the hospital with lots of tests, she
went home with a heart lung monitor and oxygen.
Most girls with Rett Syndrome progress normally
and between 9-18 months they regress much like an Autistic child. However, they
continue to lose skills and develop symptoms of Cerebral Palsy. Isabelle is A
Typical in that she never had developed milestones. At 8 months, she was
not rolling over or sitting up. At that point, we decided to take action. We
were huge fans of the movie “Mr. Holland’s Opus” and became convinced she could
not hear. It took 16 audiologists before we were convinced there was nothing
wrong with her hearing. We moved on to a behavioral developmental specialist
who gave us a clinical diagnosis of Angelman’s Syndrome.   A few
months later, she scared us with her first recognizable seizure:  A grand
mal.  Back off to the hospital for another long stay. After 2 years of
testing, and little developmental progress, we learned she has Rett Syndrome.
In the time since then, Izzie has lost the ability to swallow
foods on her own, and the muscle tone to chew anything. She was placed on a
feeding tube, which is common in Rett, and has been doing very well with it.
She is wheelchair bound and is learning to use her eyes to communicate with a
computer. We have found that she has a wonderful sense of humor and a strong
will. Izzie
is very smart girl who loves flirting with her sister’s boyfriend, baby dolls
and the color pink.  Everyday we see more
of her personality coming out. She loves music and dancing, Dora the Explorer,
and puppets.
Isabelle is a trooper; she was featured in a
television segment in Canada as a spokesperson for Rett Syndrome (and got to go
swimming with the dolphins for the shoot!). This Thursday is Rare Disease Day
and we celebrate all those diagnosed and those yet to be. For more information
on Rett Syndrome, please visit www.rettsyndrome.org.

Rare Disease Story: Bug.

Cerebral Folate Deficiency

CFD has been the bane of our existence for 7 years. 6 years we spent in the dark, wondering why our son’s seizures were getting worse, why his communication was absent, why he seized less when he had a fever and why he couldn’t walk a straight line anymore.
The last year, since his diagnosis, has seen great improvements with a long way to go.
CFD usually begins with seizures, lack of speech, the stiffening of muscles, losing the ability to walk or problems with eyesight, around the age of 3 to 4 years old.
Our son started seizing just before his 3rd birthday.  The first indicator that there was something to look for, was his sleep pattern or lack of it from birth. To say he was a lousy sleeper would assume he did sleep. Any baby sleeping less than an hour, awakening to eat and then sleeping less than another hour off and on all night, should not be disregarded as some physicians may recommend.
Sleep disturbances are common in CFD. Folate is important to several key functions in the body: Immune system regulation, dopamine creation, protein binding, and gastrointestinal regularities.
How do these relate to our son’s symptoms? Looking back, the symptoms SCREAMED: CFD!
Immune System:
Bug had all of his vaccines on schedule. After his second DTaP he had his first seizure. The vaccines didn’t CAUSE the seizures, but they exacerbated the condition.  When Bug is starting to get sick, he seizes more. When he has a fever, he does NOT seize. Ever. Has NEVER seized when he has a fever. It’s odd; we were told with more than a hint of skepticism. But it’s also, a red flag.
When a person is getting ready for sleep, the ‘sensors’ in the eyes trigger melatonin, which is produced from serotonin, and is responsible for a person feeling drowsy and getting ready to sleep. Bug’s sleep disturbances are the second red flag. He would sleep better taking Melatonin but without it, he was up every few hours, if he slept at all. His first few EEG’s done during sleep showed no REM. Bug was not dreaming, he was not getting into any recognizable sleep pattern and he was not writing long term memory well. He regressed.
Protein Binding:
Bug loved to eat steak and beef and chicken and despised sugars. This alone does not affect the protein binding that one needs to build good Neuro pathways, but it is a clue that there is an imbalance in the system. Protein breakdown and lack of protein is a known issue for Autistic persons. Bug was labeled Autistic when he was 4. It was not a shock; it was clue. Autism patients have been known to test positive for the folate autoantibody and if they don’t, the treatment still has shown positive results.
Bug never had well formed stool. And his soiled diapers where frequent. Very frequent. He averaged 6 soiled diapers a day, even after he was no longer breast fed (which he refused to do after the age of 4 months – he would not take ANY breast milk. We surmise now, because it was too sweet). Once he started seizing, anytime he would be constipated or had diarrhea which was twice to three times a month, he would seize more. Doctors told us this is common with people who have seizures, but it is also a red flag. He also suffered from Cyclical Vomiting Syndrome. For no known reason he would just stop eating and then start throwing up everything he did eat.  We would take him to the Doctor, get some medication and he would get better, only to start it all over again a few weeks later. It is common in patients with CFD.
Other signs include:
Lack of speech or loss of speech.
Eyesight problems leading to eventual blindness.
Loss of coordination.
Muscle rigidity.
How is one tested for CFD?
Most blood work will be completely normal. There may be irregularities in protein levels, and amino acids but unless they are large anomalies, most Doctors will not make the connection. A lumbar puncture is the best way to get a clear picture. CFD is always associated with a low level of 5-MTHF (5 – Methyltetrahydrofolate – an important neurotransmitter).
The treatment for CFD is well known and readily available. Since the body does not do well with its own folate (but the patient can still have normal blood levels of folate and B Vitamins) supplementing with folic acid is usually ineffectual and if the patient has the autoantibody, it can make their symptoms worse. A prescription Follinic Acid is the first medication a Doctor will order after diagnosis. Follinic Acid is an analog folate, specifically developed to cross the blood-brain barrier and assist in raising the levels of 5-MTHF. Because folate is a B vitamin, most Doctors familiar with CFD will also order B Vitamin injections. If the patient also has the autoantibody, it is important to test for antibodies to the vaccines they have already had, if they have had them. If the antibodies are present, IVIg may be ordered, if they are not, a more cautious approach is required.
Since the addition of Follinic Acid, our son’s seizures have decreased, he has not had a bout of Cyclical Vomiting, his stool is almost normal, he is sleeping through the night with NO assistance, he is making sustained and meaningful eye contact and he is babbling. No real words yet, but he is working on it. It took us 5 years to get the lumbar puncture that would change our lives, I may wish we had that time back, but we are more focused than ever about making the time ahead hopeful and beautiful, for Bug’s sake.

– Annette Maughan