Monday, July 6, 2020

Premature Birth and PVL


DIAGNOSIS #1 - Petriventricular Leukomalacia

"What in the hell is Petriventricular Leukomalacia?"  That is the question Jen and I were asking ourselves in April 2017. We were informed that Rhythm had it following an MRI during a hospital stay to track her brain patterns (EEG) ordered by our neurologist.  In fact, the doctor on duty stated it so matter-of-factly that it completely caught us off-guard and forced us into immediate research mode.  Up until this point, we thought all of the evil that had ravaged Rhythm was solely because of Infantile Spasms Epilepsy.  We were wrong.

The National Institute of Health defines Petriventricular Leukomalacia (PVL for short) as follows:

"Periventricular leukomalacia (PVL) is characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns; premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the periventricular area of the brain, which results in the death or loss of brain tissue. The periventricular area-the area around the spaces in the brain called ventricles-contains nerve fibers that carry messages from the brain to the body's muscles. Although babies with PVL generally have no outward signs or symptoms of the disorder, they are at risk for motor disorders, delayed mental development, coordination problems, and vision and hearing impairments. PVL may be accompanied by a hemorrhage or bleeding in the periventricular-intraventricular area (the area around and inside the ventricles), and can lead to cerebral palsy. The disorder is diagnosed by ultrasound of the head."



As it turns out, PVL was THE core diagnosis for most everything Rhythm had been experiencing.  The root cause.  That's why I'm kicking off the deep dive of the various diagnoses she has had with PVL.  A look at the cause and symptoms all align.

CAUSE:
Rhythm was born prematurely and had to be resuscitated.  In that time, she had a lack of oxygen to her brain.  This caused the death of white matter around her ventricles, as confirmed in her MRI.

SYMPTOMS: 
1) Motor Disorders - at 5 years old, Rhythm is not yet crawling.  While she is now learning to sit up, she does not have the balance to maintain the position yet.
2) Delayed Mental Development - Rhythm is not speaking, although she is very vocal.  She has shown the ability to learn things, but at her pace.  She is still learning some basics at 5 years old.
3) Coordination Problems - as stated, Rhythm can not maintain balance, but she is trying very hard.  She is stronger in using her hands now, but that is a recent development.
4) Vision Impairments - a few doctors have indicated that while Rhythm's eyes are healthy, she likely has Cortical Blindness, which I'll cover in a separate post.
5) Hearing Impairments - Rhythm's hearing is very strong and always has been.
6) Cerebral Palsy - This has also been diagnosed, which I'll cover in a separate post.
7) Infantile Spasms - Any condition that causes damage to the brain can cause Infantile Spasms.  This would certainly qualify.

This was a significant piece of information, which unfortunately took us 15 months to get after her seizures started.  Now we could tie it directly to her premature birth and the ensuing impacts during resuscitation.  In the end, while unfortunate that it all happened the way it did, Rhythm is alive and that means everything.

There is no treatment for PVL at this time.  Interventions would be needed, based on severity, to treat the various symptoms.


NEXT POST TOPIC: INFANTILE SPASMS

Friday, May 29, 2020

Diagnosis Overload



Rhythm Star Adams just turned 5 years old.  It's been a tumultuous road to age 5, but thankfully the last 3 years have been more about the positives than the negatives.  Her seizures stopped in 2017 and have not returned, thanks to Haleigh's Hope Cannabis Oil.  I can't say it enough - there was no change in her seizures until we introduced CBD Oil.  All pharmaceuticals that we tried on Rhythm did not impact her seizures in the slightest. 

Rhythm's ongoing medical story began in the Philippines in 2016 and continued on here in the United States. Even before that, as she was a long-shot to survive her emergency premature birth.  As I reflect back on everything, I am still left troubled by something.  Rhythm has received 5 different medical diagnoses over the years from Doctors, Neurologists and Therapeutic Experts.  We still struggle in some cases to determine whether or not Rhythm did or still does have these varying diagnoses.

Here is a history of the diagnoses given to Rhythm:

January 2016: Diagnosed with Infantile Spasms Epilepsy after the onset of seizures
April 2017: Diagnosed with Petri-Ventricular Leukomalacia (PVL) after receiving an MRI at a hospital in New Jersey
July 2017 - Diagnosed with Cerebral Palsy by a Therapy team referred to us by our neurologists in New Jersey
October 2017 - Inferred that Rhythm had Cortical Blindness after an eye exam had her eyes declared healthy, but the associated condition of Rhythm's brain may be impacting her ability to process what she sees.
December 2019 - After a significantly long time (14 months) had passed following an EKG where there was no hyppsarhythmia, Rhythm's former neurologist in Las Vegas called us to let us know that although no seizures were present, signs of Lennox-Gastault Syndrome (LGS) were present.

Infantile Spasms, PVL, Cerebral Palsy, Cortical Blindness and LGS.  That's a lot to process over the years, and as we try to make sense of Rhythm and her behavior, mannerisms, patterns and development, we know that the answer has to be there, somewhere.  Not only what she has, but what it means for the future.

In my next 5 blog posts, I will take each of these diagnoses one by one, look at all of the causes, symptoms and developmental outlook and compare them to Rhythm's medical past, the similar symptoms she experienced and how she has developed.  I am not inferring that any of these are wrong, but there seems to be shades of gray on the surface with some of them and how they have applied to Rhythm.

I would also be very curious about the experiences of others in this regard.  I just don't know how different Rhythm's case is compared to others.

Rhythm's 5th birthday party was very low key in this time of COVID-19, but some of her friends in the neighborhood treated her to a Happy Birthday sing-along and some cute sidewalk chalk art.  Rhythm then had a pool party here at her home.  Happy Birthday, Rhythm.  Our precious little girl.





Monday, April 20, 2020

Rhythm at Age 5 - An Epilepsy Story Update

Hello all!  It has been over two years since my last blog post about Rhythm and her battle with Infantile Spasms Epilepsy and Petri-Ventricular Leukomalacia (PVL).  We were always told that it was going to be a long journey with Rhythm, as Infantile Spasms is one of the most insidious of the epilepsies.  Haleigh's Hope CBD Oil played a huge part in limiting and then stopping her seizures.  We are confident in saying that, as several pharmaceuticals were tried on Rhythm, and none of them stopped the seizures.  Only when we introduced Haleigh's Hope did they stop.  We know this does not work for all cases, but it worked for us.

Back in December 2017 and our last update, Rhythm's brainwaves did not show any abnormalities.  For us, that meant that she was truly seizure free.  Here are some amazing successes and continued challenges we have with Rhythm's development, 2 years on:

SUCCESSES
1) Rhythm started school!  Our school system picks her up at our house in a special stroller the school provided.



At first, Rhythm did not like the bus.  Especially her first year.  But she grew to love school this year.









2) Rhythm is eating some things on her own



And she has a sister!  Her sister, Lyric, has inspired Rhythm to do certain things as she learns them.






3) Rhythm is starting to say some words.  Sometimes it is words that she repeats from others.  But sometimes it sounds like she is joining a conversation.  Her two most common words are "Yeah" and "Okay".

4) Rhythm absolutely loves music.  How fitting with that name!


CHALLENGES
1) Rhythm is still building up strength to sit up, but isn't there yet.  As she gains weight, her mobility is something that we hope to see a huge improvement in and will continue seeking out therapies and tools to help.  PVL leads to Cerebral Palsy, which Rhythm does show symptoms of.  But we know there are varying degrees of Cerebral Palsy, and we are unsure of the extent that it will impact Rhythm as she gets older.

2) Rhythm is still not making direct eye contact.  We know that her eyes are healthy, but there is a level of cortical blindness.  That being said, she reacts to stimuli (sudden light for example) and does react to certain colors, on screen images and we do catch her focusing on things.

3) She is still prone to serious tantrums when she doesn't get something she wants or is experiencing something like gas pain, made more challenging with her being non verbal.  But those are becoming rarer, and she is generally a very happy girl.

As Rhythm prepares to turn 5 next month, we are very proud of her progress, development and how well she has taken to going to school.  We appreciate the kids in her class who love her and go out of their way to be her friend and protect her.  She loves her classmates.  We can tell by her reactions recently when we had video calls with her class!

Rhythm's story continues.  The last two years have been very positive.  We hope and pray that it continues!



Thursday, December 7, 2017

A Big Test Arrives for Rhythm


We are approaching five months now that Rhythm has been seizure free.  We have grown comfortable, free from the daily nerves and trepidation of seeing those damn things.  Even the mild ones or myoclonic ones were heartbreaking.  But it's been a long time since we've seen even those.




The ravaging effects of Infantile Spasms are still present with Rhythm.  She is not crawling or sitting up yet.  Walking is still far off in the distance of a developmental milestone.  She has made some progress with her vocalizations, but her communication skill set consists mainly of sound effects with her mouth and tongue.  Strangely, she has already learned how to whistle.  But she can't say mommy or daddy yet.  She can not maintain eye contact, so we are unsure if she is really seeing or reacting to us.

Despite all of that, positive signs are there.  She is crying less and laughing more.  She is noticing parts of her own body.  Her finger has discovered her nose, mouth and ears.  She can clap.  She reacts to music in a noticeable way, and in a happy way.  She can let us know when she doesn't like something.  It's obvious when she is hungry or thirsty.  And she now loves her bath!



She has four therapy session types ongoing currently - Physical, Occupational, Speech and Vision. She has a Stander now that will help her learn to be upright. But soon, Rhythm will turn 3 years old, and we need to segue from Early Intervention to preschool.  The thought of Rhythm going to preschool is both exciting and terrifying.  Part of me thinks she will advance even more, but the other part of me thinks she will cry all day and be scared.



Rhythm has a big test coming up soon.  One that will either confirm that the hyppsarhythmia in her brain is gone, and so is the Infantile Spasms.  Or one that will still come back as abnormal still and shatter our comfort.  We have a 2 day at home EEG for her scheduled that will show her brain waves for the first time since her seizures stopped.  I don't know what to expect, and I'm nervous.  We often wonder what's going on in that little head of hers.  We will soon find out.

Sunday, November 5, 2017

Epilepsy Warriors Pt 1 - Cash and Veda

One thing that has been invaluable for us as parents of a child with Infantile Spasms and PVL is Support Groups.  It is there where you know you are not alone.  It is there where others are facing the same tough decisions, heartbreaking setbacks and trials and tribulations of doing everything in our power to make the damn seizures go away.  It takes a toll on you, in all facets of your life.

We owe a lot to Support Groups.  Starting with the Philippine Cannabis Compassion Society, then to all of the Infantile Spasms, CBD and PVL Support Groups on Facebook, we have met so many kind and wonderful people and learned their stories.  In some cases, they were very much like Rhythm's.  Everyone has a unique story to tell.

Rhythm is doing good.  She is four months seizure free, still being treated by Haleigh's Hope and Child's Life Multi-Vitamin.  She is receiving Physical, Occupational, Speech and Vision therapy.  She is beginning to sound out consonants, like Mama and Baba.  Such a small thing, but such a huge thing for us.

Every so often, I want to offer this blog as a chance for others to tell their stories.  Let us know about their little Epilepsy Warriors.  Let me introduce you to two of them: Cash and Veda


Epilepsy Warrior: Cash Hunter
Story Provided by: Savannah Chantel Hunter




A little history on my son Cash.  He began having myoclonic  seizures at 3 weeks old.   After all the testing that takes place he went home on Keppra, Phenobarbital, and B6. Had to adjust the dose a bit but eventually we had control and weaned off Pheno, then B6 as he tolerated Keppra so well and we were about to start wean that until this past March, 1 year later to the day, his seizures returned. But they were different initially clonic tonic with desaturation but then he was having seizures that where the only that would happen is he'd stop breathing,  a few times his heart stopped, but then revived himself as I prepared for CPR. The doctors started him on the ketogenic diet in early June. Still continued to struggle with seizure control. Father's day weekend he had a different type of seizure where just his head dropped and he was out of it for a few seconds then fine and resumed regular activity. Wasn't overly concerned as his other seizures were so severe. Since the seizures were continuing they started him on Vimpat. Contacted our other Neuro, that we went to for a second opinion In December, she reviewed VEEG and felt he was a candidate for hemispherectomy.  Well he wasn't and he had 40 seizures in 24 hours of 3 different types.   One being infantile spasms and they believed that the spasms actually caused the apenic seizures.

Our journey since July has been rough.  They started him on Sabril first since he was still on keto and ACTH wouldn't work well with that. That successfully stopped apenic and generalized seizures but not I.S.  Then started first round ACTH.  After 1 week, I.S.  stopped but he had high blood pressure.  Weaned off after 2 weeks and I.S. returned before wean was complete.  Had him go straight to prednisolone thinking he would tolerate better with blood pressure.   Nope, not our little medical mystery, actually made it worse.  Then tried toprimate no change not even with the generalized seizures that returned.  So tried second round ACTH with 3 weeks high dose,  4 wk wean, that we're currently on.  IS have returned. Tried Depakote caused elevated heart rate.  Now trying hh 20:1.  Was having myoclonic seizures, generalized clonic tonics,  and myoclonic. Still on Keppra, vigabatrin, ACTH wean, and reintroduced Haleighs Hope.  In the past few weeks, Haleigh's Hope has stopped the clonic tonic seizures, but unfortunately is still on clonzepam prn.  The prn is as needed, but it has stopped the myoclonics and infantile spasms.



Epilepsy Warrior: Veda Salazar
Story Provided By: Sarah Salazar














I have a beautiful daughter named Veda. She was diagnosed with atypical absence seizures right after her 12 month vaccines. She had every test imaginable done to find the root cause of the issue without success. We have tried two pharmaceuticals (ethosuximide and topamax) without any success. She had all the nasty side effects and no seizure control with them. We then tried CBD, a combo of CBD, THC, AND THCA. A couple brands with no success. Finally we got her into a clinical trial in a different state  using castor bean oil to mimic the ketogenic diet. Unfortunately this didn't work either. We were running out of options.... Being a naturally minded person I wanted to not go down the pharmaceutical route again unless it was absolutely necessary. My husband and I  pushed for the ketogenic diet. This was a daunting option but felt it was the best. My daughter at one point also was thought to have Glut1 Deficiency Syndrome. The best and basically only treatment option for Glut1 is the ketogenic diet because with glut1, glucose isn't able to get to the brain. This causes impairment of motor function, seizures, developmental delays etc...

Fast forward 4 months we started her on the ketogenic diet at a 4:1 ratio and the seizures went away! This was the miracle we needed. Prior to the diet she was having up to 2,000  Petit Mal seizures a day and also atonic seizures. At this time I also saw a link between Fiji water and a decrease in seizure activity. Fiji water has naturally forming silica and also other trace minerals. The idea behind the water is it is supposed to detox aluminum from the brain, whatever the cause of her seizures I am so grateful to have her on a regimen that works and that is natural. Her body is fighting inflammation and 'healing' and I feel hopeful this will continue to work for her. She also takes cod liver oil daily and forms of magnesium.


A special Thank You to Savannah and Sarah for sharing their story so far.  My wish for them and for every parent that reads this and is going through a similar situation, is for complete and total healing of their little warriors and a life free of epilepsy.


NEXT BLOG POST: THERAPY TOYS

Tuesday, October 3, 2017

The Five Therapies and Early Intervention


An invaluable service for us has been the New Jersey Early Intervention (EI) program.  It was introduced to us by another couple whose daughter had also dealt with Infantile Spasms.  It was described to us as a service that would allow for Rhythm to receive the kind of therapy she needs to help re-teach her brain all of those things that were set behind as a result of her type of Epilepsy and associated developmental delays.


As we met with the coordinators of the EI program and learned what they would be able to do, I felt confident that Rhythm would have a great support structure going forward.  It wasn't just physical therapy to help her learn how to use her limbs and eventually crawl and walk.  It was everything else that a child does that we take for granted, like playing and eating.


Rhythm has qualified for Physical Therapy, Occupational Therapy, Vision Therapy, Speech Therapy and Feeding Therapy.  It's overwhelming, especially for Rhythm, but every day, kind and caring people are helping our daughter learn and meet milestones for development that still lay in front of her.  She has at least one therapy session a day.


Rhythm has now been nearly three months seizure free.  This has really allowed us to focus on her therapy, on teaching her things and watch as she slowly learns things on her own.  Our speech therapist has described the many sounds that Rhythm makes (raspberries, etc) as her own language.  If we notice trends and when she uses these sounds, we may begin to understand sometimes what she wants until she learns to form words.

With a lively, but non-verbal child, I often find myself wondering: What's going on inside that little head of yours, Rhythm?  It's a world I think she is trying to share with us.  We just have to be patient.


Each state has an Early Intervention Program.  If you have a child under 3 years of age, and have not heard of Early Intervention or had a chance to reach out to them yet, below is the contact information for each state in the US, along with US Territories, and a link to a website that summarizes the program.


State Coordinators for Early Intervention


List as of 9/14/2017

Alabama


Alaska


American Samoa

  • Ruth Te'o, Acting Part C Coordinator
  • Department of Health
  • Helping Hands Early Intervention Program
  • Early Hearing Detection and Intervention
  • PO Box 7477
  • Pago Pago, AS 96799
  • Phone: (684) 699-4987
  • Fax: (684) 699-4985
  • Email: rteo@doh.as
  • Website: http://www.helpinghands-as.org/index.html

Arizona


Arkansas


Bureau of Indian Education

  • Sue Bement, Acting Supervisory Ed Specialist, Early Childhood
  • Division of Performance and Accountability
  • Bureau of Indian Education/Albuquerque Service Center
  • 1011 Indian School Road, NW, Suite 332
  • Albuquerque, NM 87104
  • Phone: (505) 563-5274
  • Fax: (505) 563-5281
  • Email: sue.bement@bie.edu
  • Website: http://www.bie.edu/
  • ReferPhone: See regional phone numbers at the Referral Website
  • ReferWebsite: http://www.ectacenter.org/topics/bie/biecontacts.asp

California


Colorado


Connecticut


Delaware


Department of Defense


District of Columbia


Florida


Georgia


Guam


Hawaii

  • Charlene Robles, EIS Supervisor/Part C Coordinator
  • Department of Health
  • Early Intervention Section
  • 1350 South King Street, Suite 200
  • Honolulu, HI 96814
  • Phone: (808) 594-0007
  • Fax: (808) 594-0015
  • Email: charlene.robles@doh.hawaii.gov
  • Website: http://health.hawaii.gov/eis/
  • ReferPhone: (808) 594-0066 (for Oahu or 1-800-235-5477 for Neighbor Islands)

Idaho

  • Christy Cronheim, Program Manager
  • Children's Developmental Services
  • State Department of Health and Welfare
  • 450 West State Street, 5th Floor
  • PO Box 83720
  • Boise, ID 83720-0036
  • Phone: (208) 334-5590
  • AltPhone1: (800) 926-2588
  • AltPhone2: (208) 332-7205 (TTY)
  • Fax: (208) 332-7330
  • Email: cronheic@dhw.idaho.gov
  • Website: http://healthandwelfare.idaho.gov/default.aspx?TabId=78
  • ReferPhone: (208) 334-6530

Illinois


Indiana


Iowa


Kansas


Kentucky


Louisiana


Maine


Maryland


Massachusetts


Michigan


Minnesota


Mississippi


Missouri


Montana


Nebraska

  • Julie Docter, Part C Co-Coordinator
  • School Based Services/Early Development Network
  • DHHS - Medicaid & Long-Term Care
  • 301 Centennial Mall South, 5
  • P.O. Box 95026
  • Lincoln, NE 68509-5026
  • Phone: (402) 471-1733
  • Fax: (402) 471-9092
  • Email: Julie.Docter@nebraska.gov
  • Website: http://edn.ne.gov/cms/

Nevada


New Hampshire


New Jersey


New Mexico


New York


North Carolina


North Dakota


Northern Mariana Islands


Ohio


Oklahoma


Oregon


Pennsylvania


Puerto Rico


Rhode Island


South Carolina


South Dakota


Tennessee


Texas


Utah


Vermont


Virgin Islands


Virginia


Washington


West Virginia


Wisconsin


Wyoming