My partner Martin and I had difficulty getting pregnant; we opted to have IVF. My pregnancy was normal besides having to watch my blood pressure. In week 18 I was diagnosed with placenta praevia marginalis. However, this didn’t cause any further problems. I gave birth to my beautiful, wise boy on the 31st of July 2018 via unplanned c-section.
Besides newborn jaundice, Clemens always was a healthy baby. He never got ill; he loved having people around him and reached all the milestones.
When Clemens was 12 months I noticed that sometimes he stared into space as if he had to process. It didn’t bother me too much because Martin also does that, too. However, deep down I felt something wasn’t right.
My best friend’s daughter has epilepsy and being a special needs educator myself I had a different way of observing Clemens. There were some incidents when he suddenly stopped and froze. I filmed it but I couldn’t figure it out. Up until one day in November 2019: Clemens knelt on the couch and froze like a chameleon – his body moved down in slow motion. It took about a minute until he blinked his eyes and ‘woke up’ again. Afterward, he was very tired and fell asleep. I was alarmed and sent the video to my pediatrician who told me to send it to a neurologist.
The neurologist answered immediately; Clemens had an EEG. Later we sat in the neurologist’s office: he told us the EEG was pathologic and Clemens needed to take Levetiracetam. The neurological checkups were fine. An MRI was planned for 30. December 2019. I was so worried. I observed Clemens even more, trying to see a ‘real seizure’ and also being afraid of witnessing a grand mal.
Clemens had his MRI but due to Christmas, we had two weeks until the next meeting. I researched and found a video about small seizures. There was a boy laughing like Clemens! The same way of laughter! I couldn’t believe it – I found his diagnosis! Clemens always laughed before he stopped and froze. Of course, I didn’t know that such a thing as hypothalamic hamartoma (HH) existed. I visited the Hope for HH website and am forever grateful for this resource as it gave me hope immediately.
When we met with the neurologist in January 2020 I kind of expected to hear they found a HH (Delande 2, right, 1.4×1 cm). I was relieved and worried at the same time.
Things moved very fast. Clemens had pre-surgery checkups; 4 days of Video EEG, PET scan, and examinations by a neuropsychologist, OT, SLAT, and physiotherapist. Clemens was 1.5 years old at that time and showed an overall normal development. A little bit of speech delayed (he spoke about 30 words) but nothing to be worried about at this time. I was soo happy; Clemens was a candidate for laser ablation.
Then Covid hit Austria and the first lockdown came in March 2020! Everything was on hold. Like our own personal world. Clemens continued to develop and was a happy child but started to have more gelastic seizures (we now knew what to look for) and more seizures where he lost muscle control. We went up with Levetiracetam but the seizure activity didn’t change.
In June 2020 we finally had a meeting with the neurosurgeon who told us Clemens was too young for surgery. It would be too risky. We were shocked! The epileptologist prescribed Topiramate additionally for the tonic seizures. In the meanwhile I met with a family from Budapest, Hungary, their daughter had surgery in Texas Children’s Hospital with Dr. Curry. I met them via the Hope for HH community on Facebook. We planned to contact Texas but with Covid everything was unsure.
In September 2020 Clemens was diagnosed with ESES; he had lost a lot of his cognitive skills – the neuropsychologist couldn’t believe that this was the same boy from February! The doctors said it was more than the HH and talked about callosotomy. I knew I had to do something! We even started with Keto to support Clemens. It was horrible to see my bright boy regressing so much!
Iris Rohrbach from the German Hope for HH community group told me about the University Clinic Freiburg, Germany, who has a lot of experience with HH. We contacted them, had the pre-surgery checkup in December 2020, and felt in very good hands. All costs are covered by the Austrian health insurance – we are very lucky here in Europe.
In January 2021 Clemens had stereotactic thermo-coagulation. The surgery lasted less than 4 hours and all went well. Dr. Reinacher and his team were great and we are forever thankful! Since surgery Clemens has been a different child! He has been more ‘awake’; the tonic seizures are history but gelastic seizures returned – but only the laughter.
Clemens continues to develop due to many interventions (four-week rehab in May 2021 and weekly OT, music therapy, and speech/language sessions). He attends kindergarten and learns every day. We stopped with keto, too. We are so proud of Clemens and all he has achieved!
In February 2022 we had the one-year post-surgery checkup in Freiburg. Clemens has about 12-14 gelastics a month when falling asleep and probably a few during the night we are not aware of. The doctors told us not to worry and we are very happy with his development. The EEG was normal and the neuropsychologist rarely sees such big improvements. His weakness remains expressive language but we are confident that he will catch up and we will support him with ACC. We continue to monitor his gelastic seizures; a second surgery is an option.
It has been a very long and exhausting journey; it took us one year from diagnosis to surgery but we are happy that surgery was possible in Covid times and in another country!
I am forever grateful to the Hope for HH site, the American and German HH community groups, and the group members for all their support. There are many specialists outside of the US who can help with HH. Never lose hope! Trust your gut instinct and fight for your child! You are not alone.
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