What is HH? Carrie Fulcher tells her story of finally discovering that she had a hypothalamic hamartoma

30 October 2021

The majority of us would have heard of or seen a complex partial and tonic clonic seizure but if I was to ask the general public what gelastic and dacrystic seizures are, the chances are they would not know. In fact, many neurologists have never heard of them either. This is due to the rarity of the condition and the characteristics it presents. Most people would associate a seizure with a person losing consciousness and limbs shaking, however this is not always the case for gelastic & dacrystic seizures. They, by contrast can be short lasting and present in an unusual manner, such as laughter for gelastic and crying for dacrystic; and a person will not always lose consciousness. As brief and as harmless as they may appear, they are anything but, these are typically the first symptoms seen in people with a hypothalamic hamartoma (Also known as HH).

HH is associated with a lesion in the hypothalamus; please follow the link below for further information.

https://www.hopeforhh.org/what-is-hh/understanding-hh/

Showing the symptoms of hypothalmic hamartoma

As a baby I was told I did not sleep well. I was often sick and made lots of giggling noises, which didn’t look like anything serious. This went on for a period of time without great concern, but after some months it became more apparent that something wasn’t right. I was taken to see my physician for some advice and was diagnosed as having colic! We now know that this syndrome is often mistaken for conditions such as this, acid reflux or irritable bowel syndrome (IBS). – Carrie Fulcher

Unfortunately, back then, in the 1980’s there was no such thing as the internet so my parents had to manage my symptoms and didn’t think twice—they accepted what they were told by specialists. I reached all expected milestones, and other than giggling at inappropriate times, I appeared to be developing as expected.

As my childhood years went on it became obvious that this laughter I was experiencing was becoming more frequent and with additional characteristics becoming more obvious to those in my company— eyes dilating and a facial grimace. Over time I displayed the majority of symptoms associated with a HH.

Deterioration in condition

These symptoms continued until the age of 12 when a deterioration in the condition led to more obvious seizures such as complex partial and tonic clonic seizures.

I had multiple tests and scans including electroencephalographys (EEG) computed tomography (CT scans) and magnetic resonance imaging (MRI)

Each scan I had over the years came back with the same result. NORMAL!

My EEG’s came back with very misleading results. They would either not show any seizure activity or it showed activity in my temporal lobe which made neurologists assume there was a focal point in that area which required surgery. As a result, I underwent a temporal lobectomy in 2013 in the hope my daily seizures would stop. Almost instantly after the surgery both myself and my specialists realised this hadn’t had the desired affect—my seizures had increased dramatically.

In the following period, I was back and forth to hospital in an attempt to decrease the activity, by which time a decision was made to have my scans reviewed by a more experienced radiologists. combination of experience and further information revealed the true diagnosis. At the age of 30 I was given the news that from birth I had been suffering with HH. It was also explained that the lesion I had was small measuring 4mm and this contributed to my misdiagnosis.

https://www.hopeforhh.org/what-is-hh/understanding-hh/#!/diagnosis-of-hh

Finding out this information after undergoing a very invasive and now known to be unnecessary surgery has been very tricky to process and overcome. It’s something I don’t think I will never get over. What I have realised since then is I am one of many people who have made this discovery the hard way.

Looking back, if we were aware that the most obvious signs of HH was gelastic/dacrystic seizures we would have pushed for a more detailed investigations Over time it has become apparent that the conventional methods of testing such as CT scans and MRI’s are unlikely to give an accurate diagnosis unless the correct protocols and experienced specialists are utilised. The symptoms of HH should be given a much higher level of consideration in what method of testing should be carried out to reduce the risk of misdiagnosis and subsequent further deterioration to the patient. By following these protocols, the correct range of treatment options can be offered in a timely manner for a more positive outcome.

https://www.hopeforhh.org/what-is-hh/patient-journey/going-for-treatment/

I am a textbook case of showing all the signs and symptoms of the presence of HH during both childhood and adulthood and the perfect example of how normal routine testing can usher a specialist into being misled. My hope is that in sharing my story I will highlight the symptoms of this condition and the difficulties that can arise if not manage and treated correctly so that future patients can avoid unnecessary surgery like me.