One of the first things people say to me when they see Mabel is, "Oh but she looks so good! She's just beautiful!" [I agree. She is pretty cute.]
The next question that usually follows is, "When did you know that something wasn't right? Like how did you know?"
I wanna answer that now and hopefully help someone else who is in a similar position. Looking back at some of these photos, it is obvious to me that something wasn't right from very early on. Doctors will encourage you to wait until about 5 or 6 months of age to start being concerned or worrying about your child 'because every baby develops differently.' However, when you know-you just know.
So, obviously Mabel failed her newborn hearing test which was alarming in itself. But the next thing that was a huge red flag to me was how weak she was. She didn't hold her head up as a baby at all. She really just started being able to do so a few months ago. Even now, on bad days, she cannot hold it up for long periods of time. She stayed in the fetal position for many months [and still curls into it daily.] She has severe low muscle tone and still doesn't sit, but she was considered a very "floppy baby." If that is how you describe your child, it is ok to be concerned.
The next thing that we addressed with Mabel was her vision. She constantly looked above us, or 'through us.' She never looked directly at us (until just recently). She was not interested in her brother and sister. She couldn't focus. The Dr. tried telling me that it was due to her hearing loss which made sense to me at the time. I'm telling you: Vision and Hearing impairments can go hand and hand but they can also be very separate.
If your child has a glazed look or cannot visually attend to objects, doesn't reach for toys, seems distant, doesn't prefer you to a stranger, etc.--Be concerned and be aggressive in getting them tested.
Another red flag for me has always been Mabel's poor suck, poor weight gain, constipation and vomiting.
When I nursed her, she would suck and suck and suck but still never seem satisfied. She only seemed more tired. When we switched her to formula, it took her (and still does) 30-45 minutes to drink 2-4 oz. We know now that after 10 minutes, she was burning more calories than she was consuming therefore keeping her from gaining any weight. Plus, she can never poop. Plus she vomited daily. Sometimes many times a day. Oh, and she could not coordinate her suck to take a binky. She still has a very hard time with this.
So, know that some vomiting is normal. All of my babies puked. But this was very different and I just knew it. When everything goes together in this way, poor suck, weight gain, severe constipation or vomiting--it is very crucial that you seek help for your baby. There are great feeding therapists who can come in early and address your concerns!!!
Because Mabel was so weak in her muscles, we thought for a very long time that her little head was shaking because she was trying to hold it up. But then as she got a little bit stronger, so did the jerking movements in her head and upper body. Even if your baby is weak, they should never be shaking or jerking repeatedly throughout the day. If this is happening, please ask to see a neurologist and have an EEG performed immediately. Mabel's was, of course, abnormal and she was diagnosed with a seizure disorder right away (at 5 months.)
Another issue for us was Mabel holding onto her newborn reflexes until she was almost a year old. Babies are supposed to lose the startle reflex, among many others pretty early on. Mabel did not. She startled when she was awake, asleep and anytime in between. We kept her swaddled for many months because of this. Keeping these reflexes should always raise some concerns for you.
I remember Mabel sleeping through last Christmas and thinking nothing of it. "She's always so tired." We just thought it was her personality. Let me tell you something important:
If your baby is "too good," "barely cries," "ALWAYS sleeps" you should be concerned.
Mabel fell asleep standing up, in the middle of a crowded room, dog barking, anywhere, anytime and would sleep for hours. She still does. She has no energy and that should always be an issue. No baby should be 'this good' especially if there are other issues happening as well.
So how did I know that something wasn't right?
Weak muscles, jerking upper body, no eye contact, no coordination in sucking or with anything else, not attentive, no interest in anything, slept all the time, startled easily, barely cried, had no desire in eating, missed every milestone (starting with sitting up), was overall 'too good.'
I'm no expert but please, if you have one or many of the same concerns--have your child evaluated. I cannot say enough about early intervention! When the Dr. first mentioned it to me, I was in denial and I was appalled. I thought he was implying that my child was autistic. How dare him!
However, I was uneducated and scared. If I just would have had the information I would have been far less sceptical and much more on board. It didn't take me long, however, to see that this was not only necessary but beneficial.
I can't imagine if we would have waited until now to step up and do something for Mabel. Thankfully, we were aggressive and built up a great team in her first year of life. Now, we have Dr's and therapists who are amazing and love our girl like we do. They work each week to ensure that she makes progress and gets amazing care.
Mitochondrial Disease is often called the 'invisible disease' because the first thing people see is how healthy or 'beautiful' the person looks. Those things can both be true but what else is true is how severe the symptoms can be at a much more cellular level.
Again, we have no definite diagnosis of mito and we may never. However, with almost every organ system involved-there is no way that something isn't causing her body to fail.
Please be proactive in your child's care!!! You are the best chance they have at succeeding and progressing. You are the only one who loves them the way that you do.
You can be the difference between life or just living for them!
...And please know that God brings peace to our madness! He brings comfort in your sadness!
And this will all be ok.
Just start now and look forward for your child's care.
I always look forward to hearing from you! Whether our situations are similar or you need prayer or someone to talk to, please feel free to email me: rameelin @ hotmail.com
Are you a mito mom or a special needs parent? Feel free to leave comments about your own 'red flags' on our Raising Redheads Blog facebook page! Would love to hear your insights as well.