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Hi everyone my name is Brittany I am Violette's mom. She has a rare brain disease called lissencephaly. Lissencephaly is a rare congenital condition that causes a developing brain to appear smooth instead of having normal bumps and folds. Lissencephaly is often caused by a genetic mutation, though non-genetic factors can also cause it. (Her is generic)LIS1 (PAFAH1B1): A mutation or deletion in the LIS1 gene is associated with both isolated lissencephaly and Miller-Dieker syndrome. <span style="letter-spacing:0.0085px;">There’s no cure or main treatment for lissencephaly. Instead, healthcare providers target treatment toward the specific symptoms that each child with lissencephaly has.</span>
<div><span style="letter-spacing:0.0085px;">Treatment may require the coordinated efforts of a team of specialists, including:</span><br />
</div>
<div><span style="letter-spacing:0.0085px;">Pediatricians.</span><br />
</div>
<div><span style="letter-spacing:0.0085px;">Neurologists.</span>
</div>
<div><span style="letter-spacing:0.0085px;">Gastroenterologists.</span>
</div>
<div><span style="letter-spacing:0.0085px;">Nutritionists.</span>
</div>
<div><span style="letter-spacing:0.0085px;">Respiratory therapists</span>
</div>
<div><span style="letter-spacing:0.0085px;">Occupational and physical therapists.</span>
</div>
<div><span style="letter-spacing:0.0085px;">Common treatments include:</span>
</div>
<div><span style="letter-spacing:0.0085px;">Measures to improve the intake of nutrients for children with feeding difficulties, such as a gastrostomy tube (G-tube) and/or speech and swallowing therapy.</span>
</div>
<div><span style="letter-spacing:0.0085px;">Anti-seizure medications to help prevent, reduce or control seizures.</span>
</div>
<div><span style="letter-spacing:0.0085px;">Occupational and physical therapy to help with motor development and muscle stiffness.</span>
</div>
<div><span style="letter-spacing:0.0085px;">Placing a ventriculoperitoneal (VP) shunt to treat hydrocephalus (a buildup of fluid in the brain).</span>
</div>
<div><span style="letter-spacing:0.0085px;">Your provider will likely recommend genetic counseling if your child has lissencephaly. She was born 01/05/2023 with some initial breathing issues and a 3 day stay in the NICU that was attributed to inhaling meconium in her amniotic fluid but after she seemed perfect  except she had a lip and tongue tie and had lots of feeding issues. I got her lip and tongue tie laserd and did lots of oral therapy and nothing helped I just kept trucking along, her father, Tyler Lester died in April 18th 2023 but he never got to meet her. A</span><span style="letter-spacing:0.0085px;">round 3 to 4 months she started missing a lot of her milestones, she wasn't able to hold her head up well, she couldn't roll, she wasn't reaching for things, and just a lot of things were concerning. Then she had a grand Mal seizure (absolutely terrifying btw) I rushed her to the childrens hospital and she was admitted for a few days but ultimately they did not believe me and sent her home. The next day it happened again this time my neighbor was able to catch the end of it on video and she was finally put her on keppra (an anti-seizure medication) We are blessed it has stopped the seizures for now but the neurologist did warn that it may not be a permanent solution and may stop being effective. The neurologist did genetic testing (the epilepsy panel) to find the cause and the results came back lissencephaly. MRI confirmed. Photos of the genetic results and a picture of the MRI are attached. </span><span style="letter-spacing:0.0085px;">There is no cure or treatment, it will progressively get worse, life will progressively get harder, she cannot eat solid food, she cannot roll, she cannot sit, she cannot stand and she cannot talk. I had to quit my job, give up my car and move to another state to live with my dad to be her full-time caretaker and a single parent since her father died. I</span><span style="letter-spacing:0.0085px;"> applied for disability months ago they told me that she was approved like 3 months ago but they have not sent a letter or anything since.She is currently on donated breast milk but it's very difficult to find regular donors. I am at a loss I don't know what to do anymore I have to put my pride to the side and ask for help &amp; some compassion to help us even if it's just prayers or resources. I wouldn't wish this on my worst enemy. I feel completely trapped and alone and I feel like the world has forgotten about us and this sweet innocent little baby and she's the sweetest most beautiful loving little girl ever. Even though most patients die before the age of two (regardless of the type of lissencephaly), survival to late childhood with near-normal intelligence is occasionally observed. </span>
</div>

Terminal 2 yr old needs your help and support

Krystal Monroe

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