aceofspades618
New member
So much has been happening with my little one. I have not complained or vented to anyone and I think I just need to write it all out because I feel like I am about to burst (sorry for the long post, i will put a tldr at the bottom). When my daughter was first born she was checked over and said she looked very healthy and nothing seemed to be wrong. Until she was having trouble latching and her jaw was making a clicking noise. The hospital recommended that we take her to a chiropractor since her face was a little uneven from being stuck in the birth canal for so long (about 3 hours). We did that for a month and nothing changed. She kept loosing weight and breast feeding became more and more painful. We finally swapped to bottles and pumping when I couldn't take anymore and was worried with how much weight she was losing. She started drinking better with the bottles, but then milk started coming out of her nose a lot and she would choke (and i mean to the point she was turning purple). I kept taking her to urgent care and the doctors kept saying that it was just an adjustment and she is just needing some formula to supplement and it is just colic that you are dealing with and you're a new parent and these thing seem scary, blah blah blah.
Finally, when she was almost 3 months old, her pediatrician looked in her mouth and saw that she was missing her uvula, which most likely meant she had a cleft palate that no one caught. She sent us to a specialist and it was officially diagnosed. There is not a single person in my or my husband's families that has a cleft palate, so we were shocked. The specialists were able to give us the resources we needed to properly feed her and gave us a bunch of information on how to properly take care of her so she wouldn't choke on her milk and they scheduled her palate repair for when she was 10 months old.
As the surgery date was approaching, we noticed that she was not as excited listening to her music and was getting to be less vocal. We took her to the childrens hospital where they gave her a hearing test and noticed that she had acute hearing loss (very normal for cleft babies) so she would have to get draining tubes placed during her palate repair and that should fix it (and it did! Score one for good news).
We made it through the surgery and it was the most stressful experience. Due to some lasting covid restrictions, only one parent could go back to the recovery bed (the place she is taken to wake up from the anesthetic before going to her room) and my baby was just sprawled out in this nurses arms, dead weight, and covered in blood. They didn't clean up all of the blood by the time they called me back and I lost it. It looked like my baby was dead in this woman's arms. When she finally woke up, her voice was so hoarse and she seemed to be in so much pain. The recovery was difficult, but we were all so excited to finally get through it and it should just go up from there right? Wrong.
We expected for her to have some speech delays because duh, she had surgery in her mouth, but she is 16 months old now and has only said mama and still won't attempt the high pressure sounds (things like D, P, K, B you cannot make these sounds with a hole in your palate for people that don't know). We started speech therapy for her and the therapist noticed some odd behaviors and explosive emotions. Now, we had been noticing these behaviors for a while, but didn't want to read too much into them because this is our first child and we didn't want to jump to conclusions and all babies don't know how to regulate emotions. But, the therapist agreed with our fears that she was showing some very early signs of autism. She is still too young to make an official diagnosis of that, but it is still something on everyone's radar. She was also falling backwards a lot and it seemed uncontrolable, so the doctors were thinking seizures (since I also have a history of seizures when I was a child). They are also worried because her head has been growing quicker than expected and they are worried she may have some fluid on her brain and so she has to get an MRI (scheduled for next Friday the 10th).
All the while we have been doing speech and monitoring her and talking to neurologists, we had a genetic test done to try to figure out where this cleft palate came from and if there is something else it could be connected to that we need to watch for especially with the behavior problems we have been experiencing (we were thinking 22q deletion syndrome since that would explain the palate, speech delays, and behavior problems). Well, the test results came back and she has a very rare chromosome deletion called 16p13.11 microdeletion syndrome. There have only been about 50 known cases world wide, so there is not a lot of information known, but from what they have witnessed, it increases the changes of autism, intellectual delays, speech delays, hearing loss, vision loss, schizophrenia, ADHD, epilepsy, and a bunch of other things (but these are the main ones).
It just does not seem like my poor baby can catch a break! I am overwhelmed and exhausted and I swear to God, if one more person tells me I am "doing everything right" I am going to scream! If I am doing everything right, then why does it feel like everything is falling apart?! Sorry again for the long post, but I just don't know how else to let my emotions out. Babies have done nothing to deserve difficulties like this and it breaks my heart seeing my baby go through everything she has already been through and seeing what struggles she will be facing as she grows.
Tldr: my LO had an undiagnosed cleft palate for 2 months (with no family history), had minor hearing loss, had surgery at 10 months, has been showing signs of autism and seizures, and just got diagnosed with an ultra rare chromosome deletion (16p13.11 microdeletion syndrome) and she is only 16 months old. I don't know how much more bad news I can take regarding this sweet innocent child.
Finally, when she was almost 3 months old, her pediatrician looked in her mouth and saw that she was missing her uvula, which most likely meant she had a cleft palate that no one caught. She sent us to a specialist and it was officially diagnosed. There is not a single person in my or my husband's families that has a cleft palate, so we were shocked. The specialists were able to give us the resources we needed to properly feed her and gave us a bunch of information on how to properly take care of her so she wouldn't choke on her milk and they scheduled her palate repair for when she was 10 months old.
As the surgery date was approaching, we noticed that she was not as excited listening to her music and was getting to be less vocal. We took her to the childrens hospital where they gave her a hearing test and noticed that she had acute hearing loss (very normal for cleft babies) so she would have to get draining tubes placed during her palate repair and that should fix it (and it did! Score one for good news).
We made it through the surgery and it was the most stressful experience. Due to some lasting covid restrictions, only one parent could go back to the recovery bed (the place she is taken to wake up from the anesthetic before going to her room) and my baby was just sprawled out in this nurses arms, dead weight, and covered in blood. They didn't clean up all of the blood by the time they called me back and I lost it. It looked like my baby was dead in this woman's arms. When she finally woke up, her voice was so hoarse and she seemed to be in so much pain. The recovery was difficult, but we were all so excited to finally get through it and it should just go up from there right? Wrong.
We expected for her to have some speech delays because duh, she had surgery in her mouth, but she is 16 months old now and has only said mama and still won't attempt the high pressure sounds (things like D, P, K, B you cannot make these sounds with a hole in your palate for people that don't know). We started speech therapy for her and the therapist noticed some odd behaviors and explosive emotions. Now, we had been noticing these behaviors for a while, but didn't want to read too much into them because this is our first child and we didn't want to jump to conclusions and all babies don't know how to regulate emotions. But, the therapist agreed with our fears that she was showing some very early signs of autism. She is still too young to make an official diagnosis of that, but it is still something on everyone's radar. She was also falling backwards a lot and it seemed uncontrolable, so the doctors were thinking seizures (since I also have a history of seizures when I was a child). They are also worried because her head has been growing quicker than expected and they are worried she may have some fluid on her brain and so she has to get an MRI (scheduled for next Friday the 10th).
All the while we have been doing speech and monitoring her and talking to neurologists, we had a genetic test done to try to figure out where this cleft palate came from and if there is something else it could be connected to that we need to watch for especially with the behavior problems we have been experiencing (we were thinking 22q deletion syndrome since that would explain the palate, speech delays, and behavior problems). Well, the test results came back and she has a very rare chromosome deletion called 16p13.11 microdeletion syndrome. There have only been about 50 known cases world wide, so there is not a lot of information known, but from what they have witnessed, it increases the changes of autism, intellectual delays, speech delays, hearing loss, vision loss, schizophrenia, ADHD, epilepsy, and a bunch of other things (but these are the main ones).
It just does not seem like my poor baby can catch a break! I am overwhelmed and exhausted and I swear to God, if one more person tells me I am "doing everything right" I am going to scream! If I am doing everything right, then why does it feel like everything is falling apart?! Sorry again for the long post, but I just don't know how else to let my emotions out. Babies have done nothing to deserve difficulties like this and it breaks my heart seeing my baby go through everything she has already been through and seeing what struggles she will be facing as she grows.
Tldr: my LO had an undiagnosed cleft palate for 2 months (with no family history), had minor hearing loss, had surgery at 10 months, has been showing signs of autism and seizures, and just got diagnosed with an ultra rare chromosome deletion (16p13.11 microdeletion syndrome) and she is only 16 months old. I don't know how much more bad news I can take regarding this sweet innocent child.
