Hi, My name is Liezel Els, and I am from Gauteng,Alberton.
After 3 failed IUIs, and 4 IVFs, I fell pregnant after 4 years with twins.
When my twins were born, I became a four hashtag mom. #singlemom #ivfmom #twinmom #nicumom
Now I’m adding another hashtag – #rarediseasemom.
Lia was born first on the 18th of October 2021 and her brother Nélius a minute later.
Many of you know that Lia has not been well, but we wanted 100 percent confirmation of her diagnosis before we informed anyone. We got the shocking confirmation from a 3rd doctor in Morningside. The fool I am, I believed they had made a misdiagnosis, and our world would return to normal. This is not the case. Our lives have changed forever on top of losing my brother 4 years ago.
Lia suffers from lissencephaly-pachygyria. It’s where the brain stopped developing at about 24 weeks in my tummy. There is no way to pick this up before birth because there are no symptoms. It’s very rare, about 1 out of 100 000 births. That means only 600 people in South Africa are diagnosed with it.
It means her brain is smooth on the outside and doesn’t have all those dents and curls as we do. It is a severe case of this syndrome. There is no cure. It can only be managed through medication. Doctors say she will remain a baby for the rest of her life, and if not managed, she could have a very short life – this we will fight with the best doctors by managing her epilepsy.
The first EEG had very worrying results and showed that she had seizures while she slept, even though you can’t see it. These are the seizures that the doctor needs to get under control so that they don’t damage the brain. It is called HIPPS. And if not managed can cause brain damage.
At this stage, we dont know if she will ever sit, talk or walk. We can do therapy to help her reach her potential in this world. We, as a family, are devastated and heartbroken. We are exhausted. She was diagnosed at the end of June 2022.
I am in disbelief that this has happened to our family 4 years after my brother’s sudden death. My heart is broken. I’m tired and worried, and I dont know why this happened. Please keep us in your prayers, even though I’m having a tough time believing that there is a God that could be so cruel.
She needs constant EEGs, occupational therapy, speech therapy and physiotherapy to learn how to hold her beautiful toys, sits, say “mommy”, and learn to walk.
I started this blog to keep everyone updated around her progress, which she has miraculously made so much of.
I’ve been battling with whether I should write about the past month or not, but some of you have heard through my dad that Lia has had a rough couple of weeks. On the morning of 5 August, just after 9, Lia had an epileptic seizure. I was in the bath at the time, but…
Trying to get somewhere with Discovery Medical Aid. This is my little girl Lia. She was diagnosed with lissencephaly pachygyria in 2022. It means her brain didn’t fully develop. She is almost 3 and can not walk, sit or talk. It is a very rare disease. Yes Discovery Limited there are not ICD10 codes for…
Today Lia visited the orthotist Kirsten Gibson for measurements and fittings for a standing frame and splints to protect her tiny feet. The standing frame will give her core muscles time to get stronger as this is the biggest issue at the moment and its keeping her from learning to sit. Kirsten made moulds of…
After waiting three weeks for Lia’s new neuro physio appointment, I had so much anxiety. Both Lia and I fell in love with Sarah, her occupational therapist and me being the introvert that I am, it’s hard to let someone knew in. I knew from the start that I would have to choose between Sarah…
Lia saw Dr Lamb yesterday and he took a step back and couldn’t believe what he was seeing. He said “she’s a different child”. She laughed at him, smiled at him, looked at him and kept on kicking and pulling herself up on my lap. He said that HIPPS only clears up in less than…
This mom longs to hear her daughter speak but a rare brain condition means she can’t walk or talk She yearns to hear her little girl say her name, but her daughter has a rare neurological condition that affects her ability to walk and talk. But Liézel Els hasn’t given up hope that through medical…
We got to see Dr Lamb today. I’ve been so worried about Lia, worried that the HIPPS had returned. She’s been crying for hours every single night for the past two weeks. I sent a message to Dr Lamb and he arranged for us to come through, but first we needed to do another EEG.…
It’s been almost 3 months since we first met Dr Lamb the paediatric neurologist. Thus 3 months on her current cocktail of medications. There has been such an improvement in her “awakeness” – its like she woke up for the first time in 6 months. She hasn’t had an epileptic fit since the 25th of…
I’ve donated to causes like this before, never ever did I think that I would have to be on the receiving end of one. Lia’s medical bills are piling up, medical aid is exhausted and they are not approving her very expensive epilepsy meds on chronic. There are still EEGs to be done, blood tests,…
Dear friends i finally have few minutes to send an update about Lia, I know many of you have been asking. Dr Lamb described Lia’s treatment outcome as a miracle. The HIPPS (constant electrical surges/epilepsy she had when she was sleeping has completely vanished after just 3 weeks of treatment. In his words “her brain…
Hi all Today we went to the NWU campus in Potch to see a feeding/speech therapist, Hanlie Degenaar. Dr Lamb referred us to her when we saw him on the 22nd of Aug. The reason for seeing her was that since Lia was discharged fro Morningside hospital over a month ago, she stopped taking her…
My dearest friends. I know many of you have wondered hoe Lia was doing, but I really didn’t have an update to send. Through one of my best friends, the genius paediatric neurologist, Dr Lamb (with a waiting list of 500 people), heard about Lia’s Lissencephaly tipe 1 (malformation of the brain) and we got…
Many of you know that Lia has not been well, but we wanted 100% confirmation of her diagnosis before we informed anyone. We got the shocking confirmation yesterday at a 3rd doctor in Morningside. The fool thar I am, I believed they had made a misdiagnosis and our world will return to normal. This is…
Lia saw Dr Lamb yesterday and he took a step back and couldn’t believe what he was seeing. He said “she’s a different child”. She laughed at him, smiled at him, looked at him and kept on kicking and pulling herself up on my lap. He said that HIPPS only clears up in less than…
