Harley’s Story

In January 2022, Harley was diagnosed with grey matter heterotopia which basically means when he was developing in the womb there was a malformation of cortical development, where cortical cells (grey matter) are present in inappropriate locations in the brain, due to interruption in their migration to their correct location in the cerebral cortex and this in turn causes nodules to be where they are not supposed to be. 

Grey matter is exactly as it says: grey matter of the brain, and heterotopia means misplaced. Periventricular means situated near or next to the ventricle. 

Harley’s GMH is located in the corona radiata adjacent to his left ventricle and also further back too (also known as periventricular nodular heterotopia PVNH). Many medical staff name it in different ways. 

The way PVNH/ GMH presents can be different in each person that has it as it depends on where it is located etc but a lot of people also have similarities also. 

80-90% of people with PVNH will develop seizures at some point in their lives and it for some, it may be difficult to control them with medication. 

Doctors can perform surgery to remove heterotopia, but this may not solve seizures because they can happen so deep in the brain. 

PVNH is a very rare brain condition and not a lot of people, even medical personnel, know about it.

Even though we finally had answers, when we found out about this, we were absolutely devastated, scared and understandably unsure of what the future may hold for Harley. All the medical staff we were under had never come across this and didn’t know anything about the condition and even just passed us a page they had found off of Google, so I think this made it even more daunting. 

After this, I was determined to find out more information not just for myself but to help Harley presently and also in the future and came across PVNH Support & Awareness page. There I met Yolaine and many other amazing people and started to learn more about the condition and I cant thank them enough, they have been informative, kind and more supportive than I could ever imagine. 

As I said previously Harley’s is situated in the corona radiata part of his brain, the corona radiata is a white matter sheet that continues inferiorly as the internal capsule and superiorly as the centrum semiovale. This sheet of both ascending and descending axons carries most of the neural traffic from and to the cerebral cortex. The corona radiata is associated with the corticopontine tract, the corticobulbar tract, and the corticospinal tract. Projection fibers are afferents carrying information to the cerebral cortex, and efferents carrying information away from it. The most prominent projection fibers are the corona radiata, which radiate out from the cortex and then come together in the brain stem. The projection fibers that make up the corona radiata also radiate out of the brain stem via the internal capsule. Cerebral white matter is commonly regarded today as an intricately organized system of fasciculi that facilitate the highest expression of cerebral activity. 

Because of this it affects Harleys, development, mobility, causes hyperactivity, lethargy, and his emotional well-being daily. He also suffers from seizures / episodes, hyperhidrosis (severe sweating from his head), tachycardia and severe temperature drops. 

This can make life a little bit different and means that we don’t get out as much as we would like to because we have to make sure he is safe and try to avoid danger especially in the colder months and on the cooler days. 

Myself, Rob and Harley are currently undergoing genetic tests, we have had all the blood tests completed: a trio full genome sequencing test, a cortical malformation panel and also and early epilepsy panel and we are awaiting the results which will take 6-12months possibly longer. We have been told that it may be caused by a few different genes and it is likely he may have other genetic conditions too. 

The main gene that is associated with this condition is called the FLNA gene. The FLNA gene provides instructions for producing the protein filamin A, which helps build cells’ extensive internal network of protein filaments called the cytoskeleton. The cytoskeleton gives structure to cells and allows them the flexibility to change shape. The cytoskeleton is also important for certain processes inside the cells, such as the movement of proteins within the cell and the breakdown of unneeded proteins. Filamin A primarily attaches (binds) to another protein called actin and helps it form the branching network of filaments that make up the cytoskeleton. Filamin A can also bind to many other proteins in the cell to carry out various functions, including the attachment of cells to one another (cell adhesion), cell movement (migration), determination of cell shape, the relay of signals within cells, and cell survival. These numerous functions involving filamin A have been found to play roles in regulating skeletal and brain development, the formation of heart tissue and blood vessels, blood clotting, skin elasticity, the maintenance of lung tissue, and the function of the digestive system. 

Filamin A is also involved in the organization of the extracellular matrix, which is the lattice of proteins and other molecules outside the cell. Filamin A binds to proteins called integrins, which span the cell membrane and anchor cells to the extracellular matrix. Through this binding, cells are correctly positioned, and signals can be exchanged between the cell and the extracellular matrix. 

Ever since just before Harley turned one, I knew in the bottom of my heart there was something wrong. I took him to the GPs multiple times because he would wake up screaming in pain, throw himself around, heart rate would go through the roof, he would complain of pain constantly and it continued to get worse, he also had peeling nails and his teeth was decaying at an alarming rate. The GPs reply time and time again was he is playing on you he will be ok give him a hug and some Calpol and he will be ok. I lost count how many times I came out in tears because I wasn’t listened to and felt so frustrated. Now we know he was having a rare type of seizure caused by his brain condition and has been diagnosed with another rare condition called ectodermal dysplasia.

It took me making a Facebook post and a friend of mine suggesting contacting one of her friends who worked in a pharmacy. I managed to get his email, I made a list of symptoms, sent photos, videos etc and he agreed something wasn’t right and thought it may be a rare condition, so he contacted his friend that was a GP in the doctors we were seen at, at the time. Sent him everything I had sent and he booked us an appointment where in turn he made a referral to a paediatrician at the hospital. It took another year after this for a referral to a dermatologist in Birmingham woman’s and children’s hospital, she suggested to him that Harley needed and MRI asap. 

3 weeks later we were in the hospital and Harley was put under anaesthetic to have his MRI, 1 week later I saw the paediatricians name pop up on my phone screen. As soon as I saw his name after such a short time, I knew it wasn’t good. I answered the phone nervously and the first thing he said was ‘’Hi Mrs Browne, how is Harley?’’  This instantly sent chills down my spine as he had never seemed so concerned before and it was the tone he said it. I replied ‘’He is the same he seems to be getting worse do you have the MRI results back?’’ He replied ‘’Yes we do and unfortunately it’s not good news’’. As soon as he said this my eyes filled with tears and I was thinking the worst. He continued by saying ‘’unfortunately we found some areas of grey matter heterotopia on your sons brain MRI, this will explain the episodes he has been having. We will see how he goes and consider if he needs seizure medication.””

I instantly replied with ‘’What is it?’’ He said calmly ‘’It is where his brain hasn’t developed properly in the womb and he has nodules on his brain, I have found a page on Google about it’’ and proceeded to give me the Web page. I thanked him and hung up. 

When I hung up, I burst into tears and immediately searched the website. Reading through it I felt daunted and scared. A few days later I found the PVNH Support & Awareness page and 2 groups, I saw on one group there was around 600 members worldwide and on the other around 800 members worldwide and I thought how rare is this condition. 

As soon as I joined, my fears, uncertainty lessened and was overwhelmed with love. We still have a lot of unanswered questions and a lot of uncertainty as a lot of people that have been affected by this condition but we now know what the possibilities of his future could entail and for me that is enough. 

He is the most amazing little boy and takes everything in his stride, he has had multiple hospital trips, multiple ambulances called out for him, tests after tests, sometimes he is in agonising pain and he very rarely complains, he gets on with it and to me he is our very own little superhero!  

He has now been on his medication for 6 months and touch wood only had 2 serious episodes, going from 6-7 a day + is such a massive improvement and I know as he gets older especially as he hits teens and his hormones change that this could change but for now we are taking what we can get and can only hope that it continues.  

Finally all I can say is if you feel in your bones something isn’t right, fight for what you believe in, I dread to think where we would be if I didn’t keep fighting and listened to the doctors. 

If you’ve read all this I know it’s a lot and thank you for taking the time to read it and please feel free to like, share and comment to raise more awareness because I didn’t have a clue about it until it happened to us and you never know if it will happen to you, yes rare is rare but there is always that possibility that one day you will be affected by it in some way or another.  

Also, if you would like to donate I will put the link to contribute to the PVNH Support and awareness page, it’s in Canadian dollars as that’s where it is based, it is approximately 64p to every Canadian dollar and every bit of money raised goes into research to help people like Harley. So, as you can imagine because it’s so rare they don’t get a lot of donations so anything big or small really does make a difference.

Thank you again for reading and I hope I explained everything to the best I can, if you have any questions at all feel free to comment or pop me a PM and I will be more than happy to answer the best I can don’t be afraid to ask, I would rather people ask and know than be scared to ask and not know 

Emma, Hartley’s mom

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