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…
Becoming an Advocate Let’s start by defining an advocate. An advocate is someone who raises awareness, pushes for change, and makes facts known for those who are not fully being heard. When your loved one is diagnosed with autism, it is essential that you advocate for them to help their voices be heard. In…
Coming to terms with a Rare Disease diagnosis and Autism When you find out that your family is going to be growing by two more hands and two more feet, you start daydreaming about all of the “perfect” memories, right? You start to think about all the peaceful nights, the cuddles, endless love, and…
Parenting from Different Points of View When your child gets diagnosed with both an ultra-rare syndrome and autism, many mixed emotions are bound to arise between you and your child’s loved ones. I want to bring your attention to this because I feel as though it’s not talked about enough. When my son was…
Overlapping Characteristics of Hypothalamic Hamartoma Syndrome and Autism Spectrum Disorder When considering if an individual has an Autism Spectrum Disorder (ASD) in addition to HH, there may be some (or a lot of) overlap, and it is very possible to have both of these conditions. The art of diagnosing ASD comes from a trained professional…
Differential Diagnosis for those with Hypothalamic Hamartoma Syndrome and autistic characteristics When observing suspected autism characteristics, how does one know, “Is this neurological from the seizures? Or is this autism?” Both autism and HH are spectrum disorders and naturally, there may be a great amount of overlap. For example, both autism and HH may…
First Signs of Autism Spectrum Disorder in an Individual with a Hypothalamic Hamartoma I’ve written and shared my son Brett’s HH story, but his most recent diagnosis of autism spectrum disorder, given just a week before the age of two, is its own story. Before sharing the story of his diagnosis, you’d likely be…
My husband and I found out that we were pregnant with a baby boy and were ecstatic! There were no complications in my pregnancy besides that our baby boy Jaxon was frank breech, so we had an ultrasound at 35 weeks pregnant to determine if I could deliver naturally or would need a c-section. At…
Rare Syndromes That May Occur With Hypothalamic Hamartoma Syndrome A syndrome is defined by a large group of symptoms and/or other conditions that consistently occur together. Hypothalamic Hamartomas have become known as a rare syndrome, based on consistent comorbidities (symptoms and/or syndromes that consistently occur together) of epilepsy, endocrine dysfunction, as well as cognitive…
Introduction Emma Nott, Hope for Hypothalamic Hamartomas board member, represented our community at the recent EpiCARE Annual General Meeting held in Lyon, France between 16-18 February 2022. What is EpiCARE? EpiCARE is the European Reference Network (ERN) for rare and complex epilepsies. Formed in 2017, it is a network of highly specialized health centers…
A year and a half into our rare disease journey, and I could go toe-to-toe with some of the most intelligent medical experts in the field. In fact, I have. I needed to. If I didn’t, Brett wouldn’t be where he is today. The day that Brett received his ultra-rare diagnosis of Hypothalamic…
Register TODAY for the Virtual Hypothalamic Hamartoma Patient Conference Hope For Hypothalamic Hamartomas is excited to host the international 2021 Virtual HH Patient Conference (October 1 & 2). Each day will be a half-day session starting at 9amPDT/12nEDT/5pmBST. We have scheduled these times to accommodate our international community. The focus of the event will include…
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