Luka
Luka was born in March of, 2016. In Ukraine. The city of Zaporizhia. Since birth he slept badly and little, cried a lot. Delay in development. 7 years now. Doesn't speak at all. Tiptoes. Weak body muscles. Auto-aggression (if something doesn't work out - he hits his head hard). At the age of 3, convulsions suddenly began. Generalized tonic-clonic, with loss of consciousness and respiratory arrest, seizure duration 20 min. Start taking the anticonvulsant drug Depakine (valproic acid). Cramps suddenly recurred every 6-7 days. Duration 7 minutes. Added 1 more drug - Leviteracitam. Cramps disappeared. After 1.5 years of medication, Depakin was switched to lamotrigine. There were no severe convulsions, but very frequent eye rolling occurred. Which continue to this day. We use the drugs in the maximum dose.
In 2021, a molecular genetic analysis was performed in the US by the Invitae laboratory (blood was sent for analysis by a transport company, delivered by Fedex). A de novo CHD2 gene was found in our child. Further examinations of us parents revealed that we do not have this gene, only the child. We turned to the medical-genetic center in the city of Kharkiv, but the professor could not help, and neither could other doctors.
A year later, on February 24, 2022, the war began. We decided to move to Germany because the child has subgroup A, which is a difficult developmental stage. My husband and I were released from the country. Now we live in northern Germany, 12 kilometers from the city of Stralsund, in the village of Klausdorf. During the one-year stay in Germany, many examinations were carried out, but unfortunately none one can determine the child's condition improve. We showed your CHD2 leaflet to doctors in Germany but they had no such cases.
Sometimes we give up, but we have to be strong. We hope that our Luka will speak one day. Thank you for your research, support, information on Facebook, at least that way we can inform doctors and move on with life.
CHD2 Heroes
Cora
It took a little longer for us to figure out that something was not right. How could we have.. known?
Keep reading
Kolman
His journey starts all the back in January of 2017. When Kolman was 14 months old he had his first seizure. It was one of the scariest days of my life.
Keep reading
Sophia
I’ll never forget the night I held her for what seemed like an eternity, while she was ..per..encing petit seizure clusters. It wasn’t the first time, but it was the worst we had
Keep reading
Caleb
I remember experiencing what felt like a shiver shake in the tummy, the type of shake that.. someone would have when they feel a chill.
Keep reading
Finlay
Whenever he was awake he would be dosing off. I now realize that he was having seizures.. but his eyes would be rolling into his head.
Keep reading
Robert
Last year, I wrote about my admission into a very exclusive, special-invitation-only parent group that will define the rest of my life.
Keep reading
Luca
When the Coalition to Cure CHD2 was formed, I wanted to help but was not sure how. I would not be any good at fundraising or technical support.
Keep reading
Colin
Colin was born in April 2015 at 29.5 weeks, 10.5 weeks early. He is currently 5 years old.
Keep reading
Emma
Emma is a unique yet important member of the CHD2 community because of the discovery of her ultra-rare genetic problem that is quite different from the typical case of CHD2
Keep reading
McKenna
Having triplets plus one in one year changed my life in more ways than I ever thought possible, but it had been a long-time dream of mine and I was up for the challenge
Keep reading
Janine
The journey of our daughter living with CHD2 started back in 2007 when she was 6 years old and seeing her eyes fluttering non-stop for minutes at a time, multiple times a day
Keep reading
Savannah
When Savannah was approximately 6 months old, we noticed she wasn’t meeting her milestones and had a twitch/tic like tendency.
Keep reading
Julian
The CHD2 Support & Research Facebook Group was one of the most meaningful groups I joined in 2019
Keep reading
Aiden
Aiden, and his twin brother Logan, was born in the US in 2005. They were much wanted IVF babies and were a blessing (and a handful) from day one
Keep reading
Kate
She was born at my parents’ house as I had a horror of hospitals, having quite recently given birth to an anencephalic baby that died at birth in one
Keep reading
Lucas
When I was pregnant with Lucas, things were great...until his 20 week anatomy ultrasound. The tech noticed his kidneys were a little large.
Keep reading
Angel
I could not have chosen a better name for my son. An angel from the day he was born, who came to teach us lessons of life and love to his parents and siblings, to give us new ways of understanding and facing life
Keep reading
Sam
I was born on February 17, 2010 and I am super excited for my birthday! I remember when I was a baby, 15 months old, when I started having quick arm movements that I could not control.
Keep reading
