First I have to go backwards...
I took my precious baby girl to the doctor for her 2 month check up and the doctor was concerned. She told me that she was "floppy". (Hypotonia is the correct word and it means that she has weak muscle tone.) She recommended physical therapy and that I should take her to see a neurologist. I was fine until I got home and had to tell my husband. That is when I burst into tears:( I didn't understand, why if it's this (insert your own word here)? All kinds of things were going through my head. We started therapy and kind of brushed off the idea of the neurologist. I know, I should have taken her but the thought of it just killed me. The doctors weren't concerned that she couldn't suck the bottle that well, would stop breathing and some other issues that I had nor would they tell me why she needed to see the neurologist. So we went on about our way...
She was about 5 months and I was concerned about the way she was eating. She would thrust her tongue out a lot while eating and she wasn't allowing me to change the nipples on her bottles. (She only wanted the 0-3 month nipple.) She was gagging a lot. She would do great for a couple of days and then all of a sudden it seemed like she would forget how to eat. She had also began to hold her breath and have spasms. These happen all day long at all times. It is almost siezureistic the way that these episodes present themselves. It was crazy and I needed help so I asked for a Speech Therapist or an Occupational Therapist to come in and evaluate her. They sent someone and she recommended that we go see a Gastrointestinal doctor.
Right after this we ended up in the pediatricians office again. He (a different doctor) noticed that she was in therapy for Hypotonia and wanted to know if I had taken her to the neurologist yet. I said no. I did have an appointment for the end of March but I had not taken her at that moment. He seemed to be upset with me and really pushed the subject. I asked if there was a great concern for anything then as her mother I needed to know. I am the type of mother that will fight for my child (see Little Buddy's Story... Celebrating Autism?). All he would reply, "If you knew how to take care of her better wouldn't you want to?". I was furious! He wouldn't tell me what they were "supposedly" seeing.
We made our appointment for the GI doctor and we explained everything to him. He let us know that she had reflux. He began treatment with Prevacid and ordered a Swallow Study. The Swallow Study came back and said that she was not aspirating (food going into her lungs) when she was eating. I was hoping that it would show reflux but apparently they don't do that?
We made it to the neurologist. He checked her out from head to toe, asked a lot of questions. We asked a lot of questions. He told us that at the moment he was diagnosing her with Sandifer Syndrome. I cried for a minute. (Who wouldn't when you don't know what that is?) He ordered an MRI, an EEG, and a whole list of blood work.
So what is Sandifer Syndrome? It is a rare condition that has high correlation with reflux. It occurs however, in less than 1% of babies with reflux. Some of the symptoms are: Arching of the back, Sudden rotation of the head and neck to one side, sometimes with the legs rotated to the opposite side, Gurgling noises, Possible abnormal eye movements, and Possible vomiting. Episodes generally last 1-3 minutes, and can occur up to 10 times a day. The baby will typically become quiet during an episode, although sometimes fussiness will occur. Fussiness or crying generally occurs after the episode.
I was going to insert a video here but the videos break my heart. To watch her in pain is not fun at all and I don't think that I could pass that on to you, I am sorry.
These happen ALL day long. They happen when it's time to eat breakfast ~ which is usually her worst because these hurt the most and last the longest. They happen at church, at the store, & in the car. I have even felt her have one in her sleep. Sometimes she will awaken from a nap screaming just to have an episode and then go back to sleep. There is no warning to when they happen. She can't stop them either, all movements are involuntary and indicates that she is in pain. There is nothing I can do to stop them other than to hold her tight and love her through them.
As of today the MRI came back normal! YAY! The EEG came back normal! Double YAY! PRAISE GOD!!! Now we are awaiting the blood work it takes a few weeks and we should know all the results very soon. Then we meet back up with the neurologist to discuss everything and our plan of action.
So this is what I have been dealing with over the past month (with all the doctors and tests). I haven't even told all of my family because I don't want to hear "their opinions". I think its most hurtful when people form their own opinions before hearing the whole story. I am open to answering questions if you have any. I am still researching and I will post any updates as I can.
The upside? Yes there is always an upside...I know that God has a plan for this too! I know that He hears me and I can run to Him when I don't understand what is going on. I have read that they usually grow out of this by the time the are 3 years old. I am praying that all blood work comes back perfectly. Thank you in advance for your prayers...