Diagnosis Journey: Part 3- Aicardi Syndrome, Lennox-Gastaut Syndrome, and Beyond

Diagnosis Journey: Part 3

Aicardi Syndrome, Lennox-Gastaut Syndrome, and Beyond

This weekend, September 2nd in particular, has a pretty heavy significance for us. September 2, 2021 was the day Sage had her MRI that diagnosed her with PVNH. Then, exactly a year later, September 2, 2022 she was officially diagnosed with Aicardi Syndrome. The Aicardi Syndrome diagnosis actually started on April 1, 2022 (no kidding). ☺️

After getting the Infantile Spasms diagnosis for Sage, starting her on meds that were helping (Vigabatrin), starting her in therapies, and learning how to keep moving forward with life, things seemed to finally be looking up. We were figuring out how to deal with her seizures a bit better, they had slowed down and she finally started making strides in her development. I was also finally able to focus on Clover more because my debilitating fear for Sage had become a bit more manageable. (Clover was such a trooper through everything and has always been very involved with everything dealing with Sage.)

I need to note: all seizure medications come with side effects, some more severe than others. Vigabatrin is a very aggressive medication, it definitely helped Sage’s Spasms, but did a brutal hit to her developmentally. She went from rolling over at 5 months old, to a total rest (newborn status) at 6 months, and it’s been a battle ever since. One of the biggest side effect of it is vision loss when used for extended periods of time.

Sage started Vigabatrin at 6 months old so by April 2022 our neurologist thought we should get her checked to make sure it wasn't affecting her vision. We scheduled an eye and genetics appointment in Boise, ID so we could get them both done at once.

We had genetics first. I was nervous for the genetic testing, worried for what it might show. They took blood from me, Brandon, and Sage to check if there was any hereditary gene that was causing her PVNH and seizures. Then we went to see the eye doctor. In my mind it was going to be a routine check, and they were going to say she was just fine. Well, that’s not what happened.

They put in eye drops to dilate her eyes then we had to wait for 30 minutes for her eyes to fully dilate. Then the doctor came in to examine her. She looked in her eyes and said with surprise, “You didn't say she had Aicardi Syndrome, did you? “

I felt my stomach drops, and I asked her “What? No. What is that?”. The doctor then explained that Sage has holes in the back of her eyes. Her retinal nerve is bigger than it should be and she has marks all over her eye that is the mark of Aicardi Syndrome. There are three requirements for the Aicardi Syndrome diagnosis: Infantile Spasms, holes in the back of the eyes, and missing corpus callosum. Sage has 2 of the three.

Because of her lacking one requirement, we needed to wait for genetics to come back to confirm the diagnosis. We told our neurologist about the possible new diagnosis and he told us to not freak out too much and try to not look it up too much (because it would just cause more worry without knowing if she had it for sure).

I actually took the advice and didn't research too much, but started finding Facebook groups about it. I admit, the groups made me worried for what Sage’s life might look like. I saw these amazing women with angel girls, but had the thought that I can never be that strong….I can’t do what they do.

These families with special needs children are truly amazing! They are strong when life is unbearable, they are compassionate to others, they are inclusive, and they show love in a way that is unmatched. I strive to be like them, they were so encouraging to me when I felt like there was no light left, no hope left for my beautiful baby. They taught me that you can have joy, love, and meaning in life no matter what life throws at you.

Those with special needs children understanding the pain of receiving a diagnosis you dread. When you hear a diagnosis, it doesn’t change your child, but it exposes what there limitations most likely will be, it shows the reality of what their lives are going to look like and, as selfish as it may sound, it also brings the reality of what it means for your family’s future.

We received the results of the genetic testing and there were no abnormal genes, so she was then officially diagnosed with Aicardi Syndrome September 2, 2022.

Even though we’d been kind of expecting the diagnosis at that point, it was still a heavy reality to accept. I’ve found that there is mourning I've continually gone through, mourning what I expected of our lives and how Sage was supposed to grow up. This mourning can be very overwhelming, sometimes debilitating, but a lot more pronounced when we receive a new diagnosis. The prognosis for Aicardi Syndrome isn’t very encouraging toward a “normal” life. When Sage was diagnosed with Aicardi Syndrome I felt the possibility of her having any type of normal life being ripped from her, and us.

I had taken the previous 6 months to come to terms with the possibility of that diagnosis, so when it became “official “ it was still a hard pill to swallow but not as devastating as it was when we initially suspected it. I allowed myself to research more, and started to get acquainted with what this diagnosis will mean for us.

“What is Aicardi syndrome?

Aicardi syndrome is a rare disorder that’s present at birth (congenital). It causes malformations in the brain, eyes and other parts of the body. It leads to lifelong difficulties, including intellectual disabilities and developmental delay.

How rare is it?

Aicardi syndrome occurs in 1 out of every 100,000 live births. There are approximately 1,000 cases in the US and roughly 4,000 worldwide.

How does Aicardi syndrome affect the body?

The condition has three common issues:

Agenesis of the corpus callosum: Abnormalities in the structure connecting the brain’s left and right sides.

Eye issues: Holes in the back of the eye (coloboma) or patches of clear tissue (choroidal lacunae).

Seizures: Difficult-to-treat episodes of irregular electrical activity in the brain.

It’s possible to have Aicardi syndrome and not have all three issues. Many children experience additional symptoms and delays."

- 1

Not long after her Aicardi Syndrome diagnosis her seizures seemed to change back into Infantile Spasms, so we did an EEG to check. I felt so sure they had returned and felt completely devastated that these terrible seizures had come back.

Our neurologist came in during the EEG and explained to me what it was showing. It was showing a similar brain wave as IS but wasn’t IS. It is called Lennox-Gastaut Syndrome, and is a result of her having IS. She has myoclonic seizures that come in clusters, resembling Infantile Spasms pretty closely.

“What is Lennox-Gastaut syndrome?

Lennox-Gastaut syndrome (LGS) is a severe form of epilepsy with seizures that begin in early childhood, usually between the ages of 2 and 5, and continue into adulthood. About 10% to 30% of children with LGS have a prior history of earlier onset epilepsy syndromes, such as West syndrome or Ohtahara syndrome. LGS accounts for 3% to 4% of all children with epilepsy.

Children with LGS experience multiple types of seizures that are often resistant to many types of antiseizure medications. These may include:

• Tonic (stiffening) seizures, especially in sleep

• Atonic (drop) seizures

• Atypical absence seizures

• Myoclonic seizures (sudden muscle jerks)

• Generalized tonic-clonic seizures (also called grand mal seizures)

Many children with the condition have developmental delays, cognitive impairments or behavioral problems.”

- 2

I admit, I am still learning a lot about all of Sage’s disorders but especially these two. Each person who is affected by Aicardi Syndrome or LGS can have such varying degrees of symptoms and outlooks. We still don't know for sure what Sage’s life will continue to look like, but we have the hope that she will keep growing, learning and developing skills.

There is always the possibility that we will discover more telling diagnoses for Sage as time goes on. We know she has cerebral palsy and epilepsy as a result of her other disorders. But these are more of a widely recognized term for symptoms that other disorders cause.

Life has been overwhelming, to say the least. Especially this past weekend with the diagnosis anniversary bringing up all the memories and feelings.

Brandon has been reading The Daily Stoic and showed me this page, and I feel like it is so relatable to how I feel.

If I try to look forward to what our future could look like, especially with regards to Sage, it gets extremely overwhelming and like there is no way I will be able to do it. But when I focus on the present, one step at a time, one seizure at a time, one day at a time, things become doable. I see Sage as my Forever Baby, and of course, I will do all of this for her!

Life in the grand scheme can be intimidating, but when I focus on the beautiful moments in the now I can see the hand of God in my life. 💜💗💛.

I still don’t fully understand why He chose me to have one of His choicest spirits, but I do know He will always be by my side in this journey.

#sagemariewebb #lifeisbeautiful #epilepsymomma #epilepsybaby #aicardisyndrome #pvnh

1.https://my.clevelandclinic.org/health/diseases/6028-aicardi-syndrome?fbclid=IwAR0IS-z1ZI4GPExeFEw6cE8bQsTWmWnhnT9aGbtAMy6JpjXi4FGljdmhIWc#:~:text=What%20is%20Aicardi%20syndrome%3F,intellectual%20disabilities%20and%20developmental%20delay

2. https://www.chop.edu/conditions-diseases/lennox-gastaut-syndrome