Hi Everyone,
I’ve been posting comments and reading all your stories and i feel that it’s time to share ours. My daughter was born on Dec 10, 2010 via c section with no complications besides being small. She was 2.22kg born at 38 weeks. She came home with us after 3 days and boy was it hectic >.< . It was really hard trying to get her to latch on properly and sometimes it would be successful but it wasn’t easy. She took the bottle quite well so i ended up pumping for around 3 months and gave her via bottle, until i just didn’t have any more. I still kick myself in the butt for not trying harder, but that’s the past. The only sign that there was anything wrong was when Isabella had a fever when she was 4 months old and we brought her into the hospital, the pediatrician told us that she looked different. So in the 5 minute consultation that we had with him, he told me that he suspected that she may have a genetic disorder and that further tests should be run. I was like” WTH??!! How about her fever? And what the heck is a genetic disorder?!!”. We were then admitted for the fever and it was confirmed a UTI and other tests were scheduled. He said that she had small hands and feet and wide set eyes..blah blah blah was all i heard because all i wanted to do was punch him in the face for telling me that my beautiful baby was “not normal looking”.
Anyways, lets fast forward just a little…tests were scheduled but not until a later date so went home and became “worry wart google monsters” and looked up everything and anything under genetics disorders. It was hard and rough. The waiting game began for the tests (MRI, Genetic testing, CT,hearing, seeing, heart etc)
At 6 and so months Isabella was doing great! She was up to 6.2 kg and eating like a champ. But then the first seizure came. But before that , the days before we noticed that she did a few rapid blinks here and there and i just though something was in her eye. But that it the only thing different that i picked up. She was running a low grade fever of around 38 degrees celsius though. We just finished feeding her then she woke up from nap twitching on her left side. I knew it was a seizure (maybe too many movies or motherly insticnct) but we rushed to the hospital asap. I think it was too many movies because i put my finger in her mouth thinking that she would bite her tongue or swallow her tongue, i did put her on her side as she won’t aspirate. Anyways, DONT put your finger in there mouth, putting them on the side is good so that they will drool out but i was advised not to put my finger in her mouth again…ok ok, got it.
Her seizure was long, a bit over an hour. It was on and off, but still categorized as status elipticus. She was in ICU for a few days but was back to old self when discharged. Went home, then she had another seizure a week after, and that was a long one too. These two incidents bumped up all her appointments. We got the CT, MRI, Genetic testing done and all was clear but the genetic part. She had a deletion of her 4p arm 15.3. As you all know, thats a significant deletion but she’s a perfect example that deletion size doesn’t matter. Will get into her stats soon.
As for seizure wise, it took over 2-3 months to find the right combination of meds to control her seizures. During these months, she had short seizures of all kinds, twitching all, left only, right only, locked eyes, limp body, cyanosis in lips, 5 sec, 20 secs 10 mins, but no status.. It was a hard hard hard time for everyone But now she is on Epilum and clobazan and she was instantly seizure free for over 2 months….untill last week. She had another status but she’s stable now and back to herself. We are still waiting for results to come in as she also had a fever this time. The funny thing is, is that the three times she had status seizures she always had a fever, the other small ones were just spontaneous. Will let our nuerologist figure that out. Another thing she has issues with is her kidney reflux. She has grade 3 and 5 and slight scarring on one. Our deflux surgery is next month, so hopefully that can bring down her grading and make her less prone to UTI’s and fevers.
But i’m happy to say that she is back to her cutey self now! She is 11month and a week now and weighs 7.65kg, 68.5cm long! She knows how to roll from belly to back, plays with her toys in her bumbo chair, starting to push off with her feel a little on her jumperoo, pushes up awesomely on her wingbo, and even plays with toys while on it. She’s babbling a lot (but still waiting for more consonants)!! She eats pureed foods that we make (beef, chicken, veggies etc) and takes in all formula by mouth (we’ve been using NUK crossed cuts since birth) She’s been a strong lil one and we are soooooooo proud of her.
There are some motherly concerns though, she doesn’t smile that much. She does that” I’m happy happy eyes” and the chuckle here and there when i throw her high in the air, but she hardly smiles.
She doesn’t look at me often, she looks at me more when she’s lying down then when she’s sitting up or if i make really crazy funny faces and jump around like a monkey. My pediatritian said that it could just be her head control. Hmmm…we’ll see. Any advice or experience with these issues?
She gets regular PT and OT. ST said that as she’s so young speech therapy only focuses on eating, and she doesn’t have an issua with that so they’ll see me later. I work with her a lot at home so hopefully it can help her progress more.
So back to my comment on deletion size, our geneticist is going into more detailed testing on her chromosomes. Hopefully results will be back soon and will be sure to update you all. I just believe that she is doing so well for what people expected her to do and be. They said that her deletion is significantly large and that leads to more severity in delays and issues. For what i know, she’s doing really well!!!! So our mission is to prove them wrong!!!!!
The future looks bright and promising yet I know there will be some challenges but we sill surpass them all like we have already.. Many of your stories have motivated me, made me cry,and most importantly gave us hope. Sharing, and learning from all of you makes so much of a difference and i hope one day we can meet in person to share a hug and say thank you.
Much love to all of you…..x
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Its a common story and I’m glad you found us. As you can tell from the stories on this site, Isabella will a great little girl!
Welcome! Isabella is beautiful!! Keep proving the doctors wrong. I’m looking forward to getting to know you both.
~Hilary
Mom to Magnolia (10.5.10)
She is adorable! My son Peyton was born 12/29/2010 and they have told me he has a small deletion and based on what you told us about Isabella they are doing a lot of similar things at this stage.
She is beautiful! You have the most important thing at Isabella’s disposal~ your positive attitude! My daughter is 22 months, and although I still get scared that she is behind in her development, at the end of the day, all that matters is that she is happy, healthy and loved. Stay positive and Isabella will surpass everyone’s expectations for her~ including your own! Welcome to our WHS family! xo
Isabella is gorgeous and it sounds like she’s doing AWESOME! Emma took a while to do well with eye contact. One of my friends thought maybe she had autism too, but now (at almost 5) her eye contact is good and has been for a few years now! Well, unless there is a lot going on in the room, she has to be sure she knows what’s going on around her. Thanks for sharing Isabella’s story and I look forward to hearing more about your beautiful girlie!
My little Marley just got diagnosed today and your story sounds very similar to mine, Marley has a large deletion also your story gives me encouragement and hope thank you.
Hi everyone,
Thank you for the sweetness!
Shannon, autism popped in my head too. Isabellas still young so I guess time will tell! She does improve just at…hmm, what’s slower then a snail? ^.~ ….a slower rate. But I do appreciate that it’s progression and not regression.
Ebony, try not to let the deletion size eat you up too much. I just tell my hubby that we have AWESOME genes so a little less is nothing…^.^
And a update on my lil one! Unfortunately she has another UTI that brought upon a very high fever that led to another seizure. Sucks, but she better now. Deflux procedure is postponed for a week and another round of antibiotics. I give her a sachet of pre and pro biotics and it’s doing well for her to maintain her bowel movements.
But some good news!! My lil one now weighs 8.2kg! Yay!!! She’s been eating like a champ and even slipping me some sneaky smiles here and there. Love it, love her and love all of you for just being…x