This Interview discusses a mother who’s using CBD Oil to help her daughters Aicardi Syndrome.
An Interview with a mother who’s using CBD Oil to help treat her daughters Aicardi Syndrome.
This interview discusses a mother experiences using CBD oil as a supplement to her daughter's incredibly rare genetic malformation condition known as Aicardi Syndrome.
The mother's name is Emily and her daughter Clover was diagnosed with Aicardi Syndrome earlier in this year.
This article is designed to help other parents who may have found themselves in a similar position to Emily and can hopefully learn from her experiences and research.
We want to stress that we do not promise CBD as a miracle cure for Aicardi Syndrome. All of Emily's information is purely anecdotal and based upon her own experiences.
When possible, we have tried to research peer-reviewed literature to support Emily's information. These will be referenced accordingly and can be found in the references section at the end of the interview.
We hope you find Emily's experiences valuable and interesting.
When Did you first find out Clover had Aicardi?
Emily: At 30 weeks into my pregnancy, we had a growth scan after a couple of episodes of reduced movement. The sonographer found a pocket of fluid on the brain and it was confirmed by fetal MRI, 3 weeks later, that Clover had Agenesis (absence) of the Corpus Callosum (ACC). This means that the structure that connects the right half of the brain with the left half of the brain (corpus callosum) had not developed normally.
During my pregnancy, the ACC was believed to be an isolated finding (no other brain abnormalities). However, once Clover started having infantile spasms, her MRI confirmed that there were additional brain abnormalities (unilateral, closed lip schizencephaly, polymicrogyria, grey matter heterotopia), as well as chorioretinal lacunae. It was at this point that Aicardi syndrome was diagnosed.
Aicardi syndrome is characterised by three main features: 1) partial or complete absence of the structure (corpus callosum) that links the two halves of the brain (2) infantile spasms (a type of seizure disorder), and 3) chorioretinal lacunae, lesions on the retina that look like yellowish spots (McKusick 2012). This final feature was not confirmed until Clover was three months old, but we will come back to that.
What happened next?
Emily: We went through our pregnancy and had Clover without a problem. It was not until she was 12 weeks old until she had her first infantile spasm. Interestingly they started the same day of her 12-week vaccinations.
Before or after the injections?
Emily: After. We believe that the whooping cough vaccination (Pertussis) acted as a trigger for the spasms. I didn’t suspect this at the time, but at a later date when I looked back at the dates, I put two and two together. There are many cases where infantile spasms begin immediately following vaccinations, and it is my opinion that, even though Clover would likely have started having them at some point anyway, the vaccinations were a catalyst.
Emily is right to believe that this may well have been the trigger as Infantile spasms in association with pertussis immunisation have been described by Fukuyama et al., 1977; Millichap, 1987; Portoian-Shuhaiber and Al Rashied, 1986.
The condition would have manifested itself at some point though?
Emily: Oh yes but I think the vaccinations sped it up.
Interestingly literature does say that the spasms tend to occur at three months of age (howson et al. 1991).
Can you talk me through the spasms?
Emily: I had already read a great deal about the condition. While she had been diagnosed with isolated ACC, which has a very good prognosis, we were aware that Clover had what was believed to be a cyst, and I had read that the two often go hand in hand with Aicardi Syndrome. Even though the doctors gave us pretty good odds that Clover would develop normally, I was always looking for signs of seizures. Seizures can occur with any brain abnormality, even isolated ACC, so I was on high alert. The spasms were quite subtle, and if I had not been half expecting them, they might initially have not been noticed.
The spasms can damage the brain and cause regression, and if left untreated are thought to be the main cause of the developmental issues that Aicardi patients experience, as well as ongoing, untreatable seizures.
So the key is to identify the spasms and stop them as soon as possible?
Emily: Exactly. When I brought Clover into the hospital, they performed an EEG which measures a particular brain pattern called hypsarrhythmia. This confirmed that they were infantile spasms she was suffering and not a different type of seizure. It's the hypsarrhythmia which is damaging to the brain.
Hrachovy & Frost 2003 describes Hypsarrhythmia as a very chaotic and disorganised brain electrical activity with no recognisable pattern, whereas a normal brain electrical activity shows clear separation between each signal and visible pattern. It is frequently encountered in infants diagnosed with infantile spasms.
Em is right; if treated quickly and correctly, some children with infantile spasms may ultimately lead healthy lives (shields 2011).
What happened next?
Emily: After the infantile spasms were diagnosed along with the previous ACC diagnosis, the final feature to confirm was chorioretinal lacunae.
These are like little lesions on the back of the eye.
Because I had read about Aicardi while being pregnant, I insisted that the doctors check for these lesions. Even though the doctors were very dismissive, I pushed the issue.
I’m guessing they found the lesions?
Emily: Yep. Remember Aicardi is very rare <100 people in the UK. Very few doctors have any experience diagnosing the syndrome. So luckily, I had researched the condition and knew what to look for. I wasn’t expecting it to be Aicardi, but I just wanted to rule it out.
Kroner et al. 2008 believe that there are approximately 4000 Aicardi sufferers worldwide.
Wow. Ok, so what would have happened if this was not spotted?
Emily: Without the diagnosis, the treatment could have been very different, and the damaging seizures may have continued, possibly causing irreversible damage. We caught it early which I came to realise was very lucky.
So you can have infantile spasms, but not have Aicardi?
Emily: Yes, that’s right. There are other brain issues that can cause them, but sometimes children can have them without having any abnormalities on an MRI. The brain will look completely normal, and often they can be untreatable. The children will have them for years and years, which causes massive development problems as they grow up. They tend to stop or reduce at five years old, but the spasms have essentially held their development back, so when they stop, they may still be like a newborn mentally and physically.
During the three weeks, Clover had her seizures she went from being able to support her weight on her legs to having no strength at all. She stopped using the left side of her body completely, due to seizure activity taking place on the right side of her brain.
She even stopped smiling. So I can only imagine what years of infantile spasms would do to a Childs development.
Let's summarise, Clover has now been officially diagnosed with Aicardi Syndrome, and the doctors want to stop the Infantile Spasms as soon as possible.
Emily: The next stage was using steroids to stop the spasms. At her worst, she was having clusters of around 20 at a time.
They prescribed a steroid called prednisolone which is used to treat lots of different conditions. She started at a dose of 40mg/day but, after seeing a reduction and not a complete stop at that dose, they increased the dosage to 60mg/day before the seizures were brought under control and stopped. This is a very high dosage as even 10mg/day is thought to be high for an adult.
She was kept at 60mg for a further 7 days before the weaning process began. This weaning process was very gradual, dropping 5mg every five days.
Sinclair & Barry 2003 state that prednisolone is often used as a treatment for Infantile spasms with good levels of success.
So how long was she on the steroids for in total?
Emily: Six weeks in total.
Were there any side effects to the steroid, especially as she received such a high dose?
Emily: The most noticeable effect was her body swelling up, and this was most obvious in her cheeks. This side effect is called Cushingoid.
She also became ravenous to the point where I could not physically keep up with breastfeeding. We had to supplement with formula and finish a whole large bottle and then feed on me straight after. We even introduced solid food at four months old just to try and fill her up.
An article on www.mayoclinic.com taking oral corticosteroid medications in high doses over an extended period of time. These medications, such as prednisolone, have the same effect in the body as does cortisol produced by your body.
Did you then completely bring her off the steroids after six weeks?
Emily: After seven days of no spasms, she suddenly had a cluster of two seizures. At this point, we introduced a new drug which is an anti-epileptic medication called Vigabatrin. We continued the prednisolone dropping the dosage gradually until she was weaned entirely of this leaving her taking only the Vigabatrin. She has been spasm free ever since.
Are there any side effects of Vigabatrin?
Emily: I’ve heard from other parents that it affects muscle tone and mental development. I would say that perhaps if she was not on Vigabatrin, she would be learning things a little quicker. But considering, she’s doing well. I’m hoping that the CBD has helped mitigate the harmful effects of Vigabatrin. I genuinely believe she’d be crawling by now if it was not for Vigabatrin.
An article by Faulkner & Tolman 2011 on the safety of viagbatrin for the treatment of infantile spasms describe vigabatrin as generally well tolerated. However, use has been associated with permanent loss of peripheral vision in some patients.
How old is Clover now?
Emily: 8 months. Some children have such bad reaction to Viagbatrin that they lose the ability to swallow due to the muscle wastage.
It’s great that you managed to control the seizures so early on. Do you think that this means she will only suffer mild symptoms as she develops?
Emily: Only time will tell, but already we can see for sure she is on the mild end of the spectrum, providing that we can keep the seizures under control. The problems caused by Aicardi can be so severe that many children won’t make it out of infancy. They can vary from misshapen heads to organs not forming correctly. Often eyesight is also affected. At the moment, we do not see any of these severe symptoms.
Now seems like a good time to talk about your experiences with CBD. When did you first hear about CBD and its potential benefits for Aicardi?
Emily: There’s been a great deal of media coverage around treating epilepsy with CBD. However, the first time I heard it directly related to Aicardi was through a support group on Facebook for parents with ACC children.
As I talked to more and more parents about their stories, I began noticing that almost all of the parents with milder Aicardi girls, were using CBD. The majority of women that I spoke to were in the US and CBD has actually been authorised by the FDA as a treatment of two forms of Epilepsy. So I guess that’s why its more widely accepted as a treatment.
I tried to find other parents whose children had milder forms of Aicardi so I could compare their stories with my own and try to gain an insight into how to use CBD for Clover and her treatment in general.
How were these parents using CBD? To control seizures?
Emily: Yes, primarily, but there were other benefits also. Many of the women told me that they used CBD to encourage cognitive development. When these women increased the CBD dosage (as prescribed), they saw almost immediate cognitive gains such as new skills. I had also heard that the CBD would also protect the brain from pharmaceuticals and help the brain to heal in order to create new pathways.
Protect the brain? Let us come back to that. You had Clover’s seizures under control, so why did you decide to use CBD?
Emily: Yes, the vigabatrin was keeping the seizures under control, but at what cost we don’t know. It’s a pharmaceutical drug and may well have long term side effects. The plan is once Clover is two years of age and the effects of the seizures are less damaging, we will bring her off the vigabatrin completely and hopefully be able to use only use the natural CBD. I’ve found so much anecdotal evidence from other parents about the positive effects of CBD that I couldn't ignore it.
In the meantime we will use the CBD alongside the vigabatrin to aid her cognitive development.
That’s very interesting. Can we talk about your experiences with CBD and cognitive development?
Emily: One really interesting benefit was described to me by a woman in a support group. She had found several studies that CBD increased neuroplasticity. It was thought for a long time that the brain once developed was impossible to rewire, so if it's damaged that’s it. We now know that neuroplasticity takes place. This is the ability of your brain to change and reorganise and is the process through which all memory and learning take place. This means that even though most Aicardi sufferers do not have the corpus callosum, there’s potential for the brain to rewire. It finds a new route around this missing part, connecting the two sides of the brain.
Clover can already perform skills that she should not be able to do because she’s missing her corpus callosum. Not having the corpus callosum means that she should not be able to coordinate her right and left sides of her body. The fact that she can is evidence for me that her brain has found new routes to pass on its information. I’m hoping that CBD is aiding this.
Wow, that’s great. You mentioned earlier CBD protecting the brain. Can you talk more about this?
Emily: I’ve read several scientific studies that have found that CBD has neuroprotective effects, and many women in the support groups told me about this. This interested me because perhaps it would give Clover protection during a seizure and also mitigate any side effects from the Vigabatrin that may be restricting her development. The CBD would effectively be acting as a cushion for her brain.
A study by Holgado et al. 2017 found that cannabinoids reduced oxidative stress, neuroinflammation and apoptosis induced by promoting intrinsic repair mechanisms of the brain.
When did you start using CBD?
Emily: We started CBD very young with Clover at four months. I only connected with one other parent who started this early and her little girl is doing really well. She is actually ahead of her development milestones. She’s in mainstream school and leading a totally normal life.
Because CBD as a treatment is still relatively new, many of the women in the support groups had older children that had not known about CBD when their children were young. Every parent I spoke to recommended I started CBD treatment.
You decided to start using CBD for Clover, how did you choose which product to use?
Emily: Again, I took recommendations from the support group, in particular, the parents who had girls with milder Aicardi. They put me in touch with a family run company based in Colorado called Haleigh's Hope (https://haleighshope.com).
What was so special about their product?
Emily: They use the full spectrum of the plant, which contains the ideal properties of antioxidants and neuroprotectants. I believe this is called the entourage effect.
The THC levels were below the legal levels for the UK; otherwise, I would not be able to import the product. The product was 100% organic, and most importantly, I knew that other parents in the support group had seen great results with it. Many parents recommended Haleigh's Hope as it was a higher quality product than others on the market.
Finally, the information and support I received when I contacted the company was amazing. They told me everything thing I needed to know about which product to use, dosages, and answered any questions I had immediately.
That leads on nicely to my next question about dosages. Can you talk us through Clover’s dosage?
Emily: I was recommended using their 20:1 product. This is 20 parts CBD to 1 part THC. I was sent a dosage calculator which was based on Clover’s weight, and we use a micro-dosing syringe. We give her 0.04ml three times a day. Every child is different, so you need to gradually increase the dosage until you find an optimum level or “sweet spot”. It is at this “sweet spot” where it is believed to have a therapeutic effect.
You’ve said that almost all of the parents with milder Aicardi girls were using CBD. Have you spoken to anybody who's not using CBD to form a comparison with Clover’s development?
Emily: Not with mild symptoms similar to Clover’s. But I had seen a girl with severe symptoms whose mother only started her on CBD when she was five as soon as she began CBD treatment her seizures reduced by 80-90%.
Have you seen any side effects that you can attribute to the CBD?
Emily: No. The only slight change I noticed in Clover was when I 'd increased her dosage too quickly. I went from 0.01ml to 0.03ml per dose, and that night she had a really disturbed nights sleep. I brought the dosage back down and then she went back to sleeping normally. I am still increasing her dosage gradually but only by 0.01ml each time.
With CBD dosing you often hear people talking about the “sweet spot” I had obviously pushed Clover out of her “sweet spot”. As she grows, and her medical needs change, this sweet spot may vary, but, for now, we believe we are at the right dose for her.
Do you have any recommendations for other parents with Aicardi children?
Emily: Joining the various support groups that are out there:
- 2019 ACC Babies Support Group
- UK Infantile Spasms Trust Support Group (West Syndrome)
- The Infantile Spasms Community Discussion Group
- Family of Hope Support Group
- Mom’s of the NODCC
- Aicardi Syndrome
I’ve already mentioned how doctors are unlikely to be familiar with Aicardi Syndrome due to its extreme rarity. The best place to find help and guidance is through other parents who have had similar experiences.
If you find out your child has Aicardi, it is not the end of the world as there is not only help out there but also it is a spectrum disorder, and outcomes vary massively.
Try not to believe everything you read on Google as it tends to offer only the worst-case scenarios. We worried so much about Clover, and we still face a lot of uncertainty, but her future looks bright.
From everyone here at Caneaze, we would like to say thank you to Emily and her daughter Clover for allowing us to talk about their story with Aicardi Syndrome. We wish you the very best going forward.
If you would like to ask Emily any questions, please get in contact with us at Caneaze, and we will pass on your details.
Contact - firstname.lastname@example.org
Effect of marijuana use on outcomes in traumatic brain injury. https://www.ncbi.nlm.nih.gov/pubmed/25264643 Accessed Oct. 20, 2019.
Cushing's syndrome. https://www.mayoclinic.org/diseases-conditions/cushing-syndrome/symptoms-causes/syc-20351310 Accessed Oct. 20, 2019.
Peer Reviewed articles
Fukuyama Y, Tomori Y, Sugitate M. 1977. Critical evaluation of the role of immunization as an etiological factor of infantile spasms. Neuropadiatrie 8:224-237.
Michele A. Faulkner, Justin A. Tolman. Safety and Efficacy of Vigabatrin for the Treatment of Infantile Spasms. J Cent Nerv Syst Dis. 2011; 3: 199–207. Published online 2011 Sep 14. doi: 10.4137/JCNSD.S6371
M.A. Holgado, L. Martin-Banderas, J. Alvarez-Fuentes, M. Fernandez-Arevalo. Neuroprotective effect of cannabinoids nanoplatforms in neurodegenerative diseases. J. Drug Deliv. Sci. Technol., 42 (2017), pp. 84-93, 10.1016/j.jddst.2017.04.023
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University.Aicardi Syndrome. Available at http://omim.org/entry/304050 last edit date: 09/11/2012. Accessed October 20, 2019.
Kroner BL, Preiss LR, Ardini MA, Gaillard WD. New incidence, prevalence, and survival of Aicardi syndrome from 408 cases. J Child Neurol. 2008 May;23(5):531-5. doi: 10.1177/0883073807309782. Epub 2008 Jan 8.
Millichap JG. 1987. Etiology and treatment of infantile spasms: current concepts, including the role of DPT immunization. Acta Paediatrica Japonica 29:54-60. [PubMed]
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Portoian-Shuhaiber S, Al Rashied AA. 1986. First reported cases of permanent neurological damage after pertussis vaccine among children born and vaccinated in Kuwait. Saudi Medical Journal 7:270-274.
Howson CP, Howe CJ, Fineberg HV, editors. Adverse Effects of Pertussis and Rubella Vaccines: A Report of the Committee to Review the Adverse Consequences of Pertussis and Rubella Vaccines. Washington (DC): National Academies Press (US); 1991. 4, Evidence Concerning Pertussis Vaccines and Central Nervous System Disorders, Including Infantile Spasms, Hypsarrhythmia, Aseptic Meningitis, and Encephalopathy. Available from: https://www.ncbi.nlm.nih.gov/books/NBK234367/
Shields WD. Infantile spasms: little seizures, BIG consequences. Epilepsy Curr. 2006;6(3):63–69. doi:10.1111/j.1535-7511.2006.00100.x
Sinclair, D.Barry 2003. Prednisone therapy in pediatric epilepsy. Pediatric Neurology, Volume 28, Issue 3, 194 - 198