I decided to make a new blog since my previous one was about my ivf journey and since that is over with I thought it better to start fresh. So this blog will be about life with my two special needs daughters and my oldest daughter's twin brother who passed away at 21 weeks gestation.
To read more about our journey visit my "ivf again" blog.
The reason why I chose now to start a new blog is because it is 2 days until dd2's 1st birthday. It is crazy to think that in 2 days she will be technologically not a baby anymore, though because she is developmentally delayed she appears and behaves much younger than her actual age. For background information, we found out at 22 months that dd1 has a chromosome 6 deletion. 2 months after that it was discovered that dh shares the same deletion and I have a duplication on chromosome 7. Despite this I was set on having another baby. Since dd1 was a twin, who is growing up without her twin, I didn't want her to experience also being an only child. Because of dh's low sperm count our only option of conceiving is ivf. It took 3 ivf cycles for me to get pregnant. DD2 was born at 37 weeks by scheduled C-section. We knew there was a 50% chance she would inherit one of our bad chromosomes and a 25% chance she would inherit both. I had hope she would fall into the other 25%, but she ended up falling into the 25% of getting both the c6 deletion and c7 duplication. We found this out at 2 months of age, but I knew from birth because she was born with a large PDA and a nose deformity just like dh had. By 2 weeks of age she was in CHF and by 8 weeks she had surgery to repair the PDA. I am happy to report that her heart issues are much better. She still has a small PDA and ASD, but they are only noticeable on echo, however because of this she needs to be pretreated with antibiotics before any dental work.
After we got her heart repaired we started working on the facial defect. We saw a craniofacial surgeon when she was 3 months old who diagnosed her with binder's syndrome. We were to go back 4 months later, which later got changed to 6 months time. When we returned the doctor changed the diagnosis and now says he thinks she has nasofacial dysplasia. Basically I think the doctor has no idea what she and dh has. DH had 4 surgeries as a child and teen to fix his nose. The doctor for dd2 thinks she will only need 2. One to fix her upper lip and tip of her nose, and then one when she is older to build the top of her nose. At this last visit she was also diagnosed with microcephaly. Her head always measured in the 5%, but now it is measuring in the 1%. She was referred to a neurosurgeon who then referred her to a neurologist. We first saw the neurologist in December when dd2 was 9 months. We are going back for her followup appointment next week now that she will be 1. I am hoping more comes of the appointment next week since she isn't doing any of the things he said he hoped she will be doing.
Since the start of the year, dd2 has had nasal congestion. This has affected her eating and breathing. She is no longer able to eat solid food and can only eat spoon meals otherwise she will gag and even sometimes with bottle feeding she will gag. I don't know what is causing this problem with her and neither does her pedi. I don't know if it is her nose deformity which probably made being congested more easy to occur. She is worst after feeding, so not sure if it is reflex related - she never had reflux issues before hand. Or if she has large adenoids or something. She is going for a swallow study the day after her birthday and hoping that will give us some answers.
In terms of skills, dd2's strength is gross motor. She is able to crawl and pull up, yet refuses to cruise even though she has been pulling up for 2 months now. Her weakness is in speech and language. She is currently just making vowel sounds, though she did start making kissing sounds 2 days ago which I consider a positive sign. I am not sure if the lack of babbling and forming consonants is due to her mouth deformity, low muscle tone, or a brain problem. In receptive language she knows her name, but that is about it. She also can clap, but not wave, or point, and she is using a raking gasp instead of a pincer.
Behaviorally she is a very easy going baby and likes to just sit and watch tv. She is very rigid in terms of her schedule though and that makes it very difficult for me to take her out anywhere. Most of the time I have to refuse to go to get togethers and have dh bring dd1 to events because we just know dd2 will be horrible.
DD1 will be 4 in 2 weeks. She was diagnosed with global development delay when she was 22 months old just before we found out about the chromosome deletion. She has come a long way in the past month and is now saying some 3 or 4 word sentences. Before this she was only doing 2 word phases. She is also starting to pee potty train, poop is another story. Behaviorally though dd1 is horrible. Because of her cognitivie and receptive delay she doesn't understand things so I can't discipline her, she will just go back to what she was doing before. She loves dd2 but has no idea how to be gentle and expects dd2 to play with her like other 3 year olds. Every second of the day she is bothering dd2 lifting her here or placing her there. Luckily dd2 is so easy going most of the time she doesn't have a problem with dd1 doing things to her.
