I wanted to share with you all, how my life was touched by IP. A little over 5 months ago I was full of hopes and dreams; we were eagerly awaiting the birth of our baby girl Amelie. My pregnancy could not have been easier, the 9 months were the happiest of my life. We had no reason to worry; we had 0 known genetic disorders in our family, all the Ultrasounds and Prenatal Screenings were off the charts good, we were convinced everything would be ok.
June 26th was the day we got to meet our beautiful baby Amelie. She was perfect, like a little Angel. As I laid eyes on her so overcome with love, I did not notice the red blister-like rash on her skin. The doctors were concerned, but they dismissed it as a benign skin disorder common in newborns called Pustular Melanosis. Everything else seemed fine and we took our baby home with us. The next 3 days were the happiest of my life, Amelie was eating/sleeping as normal, everything was great.
On day 4 something changed, she seemed uncomfortable, restless and refused to eat. We noticed a jerking movement of her arms (a little like a hiccup). This is when my worst nightmare began. We rushed to the emergency room and were admitted to NICU. Amelie was having Seizures. The doctors frantically searched for what could be wrong, they started testing her for a wide variety of possible causes including IP; but it all remained a mystery. During the next 2 weeks, every possible seizure drug was administered, doctors tried to figure out an appropriate cocktail to slow them down. Nothing worked. We helplessly watched our baby hooked up to tubes and machines, drugs being pumped into every single one of her veins. We tried to remain positive, when the doctors broke the news that she tested positive for the IP gene – we became hopeful. We researched as much as we could online (as we all know there is not much out there); reading that seizures were very uncommon and the rare case that babies had them, they usually stopped after a while. Reading this MedHelp site gave me hope, maybe it wasn’t that bad. After all most posts on here relate to skin pigmentations, eye/teeth problems...not seizures...no one has ever died from it. The best doctors all around the country consulted, nobody had seen such a case like hers, such an unusual case of IP. By now the drugs were so powerful, she was put into an induced coma and a machine had to breathe for her. Still the seizures were increasing with each day. By day 19 of her life, she couldn’t continue living and there was nothing anybody could do. We had to say goodbye to her.
I am heartbroken. So sad for my daughter, she had no chance in her fight against IP. I am so sad for me and my family. It is such a rare disorder, of this rare disorder she had the rarest form. Statistically I cannot even begin to imagine how unlikely what happened to her is. I found out I am also the carrier of the Nemo Gene with the Common Deletion. I have zero symptoms. I never had a blistery skin rash as an infant. No seizures, teeth/hair/nail issues....nothing, never. All I have is a tiny white scar on my inner ankle, that’s it. I do feel very alone, however being part of this group makes me feel a little less so. I would love to hear from anybody who would like to get in touch or who can relate.
As for our future; I will be starting process of IVF/PGD this January so that our next child will not have IP. The doctors are writing up my daughter’s case and there is talk of possible further studies conducted in relation to their findings. I am hopeful and optimistic they might learn something new from what happened. Maybe something that can help a future child with IP? I am so proud of my daughter, so fortunate that I had her, even if just for a short time, I know she will always be with me. I just wanted to share my story with you all.
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