Tuesday, April 22, 2003

More about Jenelle

Re-written on August 8, 2006:

Welcome. My name is Kelly, and I am the author of this blog. I am married to a wonderful husband and father named Brett and we have two children named Jack and Jenelle. This blog was created as a way to update family and friends about our youngest Jenelle, who has special needs. That sentence seems so simple and yet there is no easy or simple way to describe Jenelle. She has literally stumped most of the world’s leading experts in child neurology yet technically all of the things we’ve tested her for have come back “normal”.

Jenelle’s biggest challenge is controlling her seizures. On top of that, Jenelle has very low muscle tone (hypotonia), cortical visual impairment (she’s blind), metabolic acidosis of an unknown cause and she has a G-tube for failure to thrive. Developmentally she is at the level of a 6 month old; she started sitting up in March 2006, she does not use her hands to hold anything and does not talk. She will laugh, giggle and cry when she wants.

Jenelle was born at 37 weeks after a difficult pregnancy. She was 6 pounds 14 ounces with Apgars of 8 and 9. Pre-term labor started for me at 28 weeks caused by a kidney infection that I had at the time. I was given Terbutaline, and placed on full bed rest the last two weeks of my pregnancy. At birth, we had no reason to believe that anything was wrong with Jenelle. My gut started to tell me something was wrong around 6 weeks when I noticed she wouldn’t smile, and that she didn’t grab at toys. She could barely lift her head, or support her own weight at 12 weeks. By six months of age, we knew she was delayed, but hoped it was due to her pre-maturity.

She was diagnosed with Infantile Spasm (seizures) at 10 months of age, and that is when things really began. Many medications, hospitalizations, steroid injections, status seizures, immune system compromise, therapy and endless doctor’s visits and specialists would eventually follow. About 9 months after the Infantile Spasms diagnosis, Jenelle was diagnosed with Lennox Gastaut Syndrome, a severe and rare form of Epilepsy that leaves most of its victims with severe mental retardation, if they live past age five. Though that last part is scary to hear, I’ve since met many, many families with LGS who have children in their 20s, 30s and even 40s. And although we use words like Infantile Spasms and LGS, the underlying cause of Jenelle's problems is still unknown.

Jenelle finally gained significant seizure control sometime in late July 2005. After that, her development really began to improve. We aren’t sure what is working exactly but we’ll take it. Welcome again and please feel free to comment from time to time.

Meet our Jenelle...

Our daughter Jenelle suffers from a rare form of Epilepsy called Lennox Gastaut Syndrome (uncontrolled seizures), global development delays, cortical blindness, low muscle tone (hypotonia) and "failure to thrive" for which she has a G-Tube. This "blog" is a collection of email updates to family and friends about Jenelle, and also has some thoughts from me (Jenelle's Mom) on occasion. To start at the beginning, please click on the archive link at the right for May 2003 - that is where the story/updates really begin. To learn more a little more about Jenelle, click on the link "Background on Jenelle" also found at the right.

Here are some statistics about Epilepsy:

"Epilepsy and seizures affect 2.5 million Americans of all ages, at an estimated annual cost of $12.5 billion in direct and indirect costs. Approximately 181,000 new cases of seizures and epilepsy occur each year. Ten percent of the American population will experience a seizure in their lifetime. Three percent will develop epilepsy by age 75."

Please check out Jenelle's Epilepsy Awareness Bracelet! (click on charity bracelets and scroll down) Right now, there is no cure for Epilepsy, however the fight remains strong. We appreciate your prayers and support - Thank you for visiting and sharing this site!

Monday, April 21, 2003

Tuesday, April 15, 2003

Frequently Asked Questions

How old is Jenelle?

Jenelle is 13 years old. We believe she started having seizures at age 10 months, or sooner.

What is Jenelle's diagnosis?
Jenelle's condition is undiagnosed. She has uncontrolled seizures that present in the form of Lennox Gastaut Syndrome (meaning multiple types of hard to control seizures). The cause of her seizures is unknown, but we believe she may have suffered some form of brain damage during development in utero. Because of her seizing brain, Jenelle has cortical visual impairment (is legally blind), low muscle tone, and is mentally retarded (functioning at the mentality of a 18 month to 2 year old child) and is fed by G-tube for failure to thrive.  In 2013, Jenelle was diagnosed with mild Cerebral Palsy.

What is Jenelle's prognosis?

Jenelle is medically fragile. When she was first diagnosed with seizures, our doctors told us that if we could not control her seizures, she would most likely not live past age 5. Obviously, we now have seizure control, and she is doing very well. Because she is undiagnosed, her prognosis is also unknown. We have been told that she will probably have a short life because she is medically fragile.  Now that she can walk, Jenelle is also at risk for elopement.  Jenelle requires 24 hour supervision for all daily living tasks, including sleep.

Is Jenelle Seizure Free?

No. We say that Jenelle has "seizure control", but that in no way means that she is seizure free. Jenelle has a few seizures a week, depending on her health. We see this as "seizure control" compared to the time when Jenelle first started having seizures (age 10 months) when she was having hundreds of seizures a day.

What do her seizures look like?

With Lennox Gastaut Syndrome, a child will have all types of seizures; grand mal, petite mal (absence/staring seizures), complex partial, myocloinc and atonic. Jenelle's most difficult to control seizures have been the absence seizures.

Here is a link to some videos that I have posted here in the past.

What therapies do you do with Jenelle?

Jenelle receives services from Regional Center and through our School District. She attends a special needs school where she receives various therapies, 6 hours a day, that include Physical Therapy, Occupational Therapy, Speech Therapy, Vision, Orientation and Mobility and other various inclusion type therapies with typical kids.

What equipment does Jenelle have?

Jenelle has a Convaid wheelchair stroller. She wears an AFO on her right leg to keep from turning in her ankle when she walks.  From ages 1 to 4, Jenelle used a walker/stander at school. We also used to use a Lecky Bath Seat during bath time, and our Peg Prego high chair for feeding until she was about 7 years old. I keep it lowered to the floor so she wouldn't tip it over.

What medications is Jenelle taking?

Jenelle is currently taking Onfi (for seizures), Felbamate (for seizures), Risperdol (for behavior), Trihexyphen (for muscle control), Melatonin (for sleep issues) and Miralax (for constipation), Clonazapam (for behavior), Zarontin (for seizures) and Jenelle has a VNS Aspire.  She mostly eats solid foods by mouth, and we use the G-tube for feedings when she is ill or post-ictal after a seizure. We also use the VNS Magnet to stop prolonged seizures and Diastat as a rescue med for seizures longer than 5 minutes.

What medications/treatments has Jenelle tried?

I strongly recommend the http://www.kidsepilepsy.com/ website. It is a database of medical treatments used for kids with epilepsy, including feedback on side effects, effectiveness and diagnosis. Below is a list of medications tried or currently in use for Jenelle:

still being used: No
effectiveness: Neutral
max. dose: 30mg

Corticotropin (ACTH)still being used: No
effectiveness: Negative
max. dose: 50 units per day

Pyridoxine (Vitamin B6)
still being used: No
effectiveness: Neutral
max. dose: 100 MG a day.

Vigabatrin (Sabril)still being used: No
effectiveness: Positive
max. dose: 750 mg, twice a day

Topiramate (Topamax)
still being used: No
effectiveness: Positive
max. dose: 100mg twice a day

Clonazepam (Klonopin, Rivotril)
still being used: Yes (for behavior - as needed)
Effectiveness: positive
max dose: 10mg three times a day

Lamotrigine (Lamictal)still being used: No
effectiveness: Positive
max. dose: 10mg twice a day

Felbamate (Felbatol)still being used: No, but added back in 2014
effectiveness: Positive
max. dose: 300mg three times a day

Ketogenic Diet - Jenelle started the Ketogenic Diet at UCLA on April 18, 2005 on a 3:1 ratio. After 3 weeks, Jenelle became very ill with meningitis, and was taken off the diet.
still being used: No
effectiveness: Positive

Phenytoin (Dilantin)still being used: No
effectiveness: Neutral
max. dose: 50mg a day

Diastat (Diazapam) (as needed for emergency)
still being used: Yes
effectivness: Positive
max dose: 10mg

Clorazepate (Tranxene - behavior drug)
still being used: No
effectiveness: Positive
max. dose: 3.25mg in AM & PM

Risperdol (behavior drug)still being used: Yes
effectiveness: Positive
max dose: 3mg twice a day

Zantac (for reflux)
still being used: No
effectiveness: Positive
max. dose: 2.5 ml twice a day

Miralax (for constipation)still being used: As needed
effectiveness: Positive
max. dose: 2tsp

Bi-Citra (for acidosis)
still being used: No
effectiveness: Positive
max. dose: 20mls three times a day

Vimpat (for seizures)
still being used: No
effectiveness: Positive
max. dose: 100mg twice a day

Banzel (for seizures)
still being used: No
effectiveness: unknown
max. dose: 600mg twice a day

Onfi (for seizures)
still being used: Yes
Effectiveness: Positive
max dose: 15mg in PM

Trihexyphen (for CP/Muscle control)
still being used: Yes
effectiveness: positive
max dose: 5ml twice a day

Zarontin (for seizures)
Still being used: YES
Effectiveness: Positive
Max Dose: 15ml twice a day

How do you get drugs from Canada?

Jenelle used Vigabatrin which is not FDA approved in the United States. In order to use this drug, we had to have our Neurologist provide us with a written prescription that we faxed to a pharmacy in Canada. In over a year, we only had one problem with our medication being held at customs. During that time, our pharmacy re-sent our prescription via Federal Express.

I recommend Mark's Plaza Pharmacy in Vancouver, Canada.

Marks Plaza Pharmacy
5760 Cambie St.
Vancouver, BC V52-3A6

Who are Jenelle's specialists?

Jenelle was followed by Dr. W. Donald Shields at UCLA for Neurology until his retirment in 2014.  She is now followed by Dr. Lily Tran at CHOC for neurology
Dr. Shaneen Idries at CHOC - Gastro Intestinal
Dr. Samuel Rosenfeld at CHOC - Orthopaedics
Dr. Sandhya Gudapati - Psychiatry
Dr. Joffrey Olaya - Neurosurgery
Dr. Richard Chang - Metabolics and Genetics

I think my child is having seizures, what do I do?

If you suspect your child is having seizures, you should contact your doctor and get a referral to a Neurologist. If you can, try to get into an Epileptologist, which is a Neurologist with special training in epilepsy.

Video tape your concerns regarding your child and anything you may suspected are seizures. Take it with you to the Neurologist. Request an EEG.

Every moment lost to seizures is a moment lost in development for your child. If you suspect anything, you need to act quickly and go with your gut instinct.

How may I contact you? jenellesmommy (at) gmail (dot) com