Lena

-- English version below --

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24 grudnia 2021 Lenka była zdrowym trzymiesięczniakiem. Jej bogata mimika rozbawiała nas do łez, fotogeniczność rozczulała serca, a temperament upewniał, że będzie umiała walczyć o interes swój i swojej spokojniejszej siostrzyczki bliźniaczki. Wrożyliśmy jej karierę modelki, aktorki lub kogokolwiek kto łatwo zjednuje sobie ludzi. W pierwszy dzień świąt rano obudził nas krzyk. Na rękach u mnie, swojej mamy, Lenka miała swój pierwszy napad padaczkowy. Dziś sześciomiesięczna Lena ma za sobą 52 napady skumulowane w 7 pamiętnych dniach. Wciąż jednak jest niesamowicie pogodnym dzieckiem i wciąż wierzymy, że jeszcze wszystko przed nią.

On Dec 24th 2021 Lena was a healthy three months old. Her rich facial expression cracked us up, her photogenicity touched our hearts and her temperament assured that she would be able to fight for her own and her calmer twin sister's interests. We anticipated her career as a model, actress or anyone who easily attracts people. In the morning on the first day of Christmas a scream woke us up. In my arms Lenka had her first epileptic seizure attack. Today, six-months-old Lena went through accumulated 52 seizures in 7 memorable days. She is still a sunshine and we still believe she can achieve anything.

 

Phenotype as of June 2023:

- hypotonia

- grand mal seizures (2x in clusters of 30/20 episodes + 5 single spontaneous episodes in different days) - controlled since 7 mo 

- small cerebellar dysgenesis

- delayed fine motor skills (eg. started self-feeding by age of 16 months)

- delayed babbling (at age of 14 months) but catching up with words (around 15 words at age of 20 months)

- oral hypersensitivity (started eating bigger pieces of food by age of 16 months)

- first steps at age of 15-16 month (still quite shaky and can fall down for no reason)

- delayed pointing-out with finger (at age of 16 mo)

- delayed social skills (eg. separation anxiety at age of 13 months)

 

Treatment:

- oxcarbazepine (6ml / day) (earlier on levetiracetam which did not fully control seizures by itself, then, for 8 months in politherapy with oxcarbazepine, currently weaned off)

- Other:

* supplementation due to prematurity: iron + B6 + B12 + folic acid + vit C

* Coenzyme Q10 ​

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Therapies:

- NDT-Bobath (motor skills)

- Vojta (motor skills) till 14 mo

- speech neurologist

- speech-cognitive training with "Metoda Krakowska"

- alternative communication (since 1 year old)

- sensory excercises (including swimming pool)

- went to daycare since 19 mo to be exposed to other children (and stimulate speech) + she has twin sister who "coach" her every day