Met with Dr Lewis today. Elie is gaining weight nicely.
Plans for g-tube will begin after our appointment with Pulmonology in mid-april.
They will likely do a little bit of additional surgery laparoscopically to tighten the bottom of her esophagus to resist reflux at the same time as the g-tube insertion.
For that procedure she needs to be 12 lbs though. So we’ve slightly upped her feeding to beef this girl up. (she’s currently 11.6 lbs)
With the g-tube Elie can still swim, lay on her belly, etc. only thing she can’t do is scuba dive 😉
Not sleeping much tonight. So many thoughts, imagining so many things.
Days are ok for the most part. Elie’s cousins are in town for spring break. So great to see them all together laughing and happy. Its infinitely easier to get through each day without wallowing in the details and the future. Just being here for now. Talking about anything and everything as we play with Elie.
Nights are a different story. If I manage to not wake up, I can make it. Tonight though, I’m wide awake and theres no present to distract you in the dark. That’s when the future crawls in.
In the first days after Elie was born, I’d awaken in the early morning hours and make my way half asleep into her room. Guided only by her nightlight, I’d place my hand on her stomach, the exaggerated but rhythmic elevations of her abdominal breathing serving to comfort and reassure me. There’s a medical term for this. It is not normal. It’s one of the first things the doctors look for when they suspect SMA as the diaphragm overcompensates for the weakness in the chest wall muscles. We didn’t know. She is the only baby we’ve known. But it provided us with another nickname, Elie Belly, or just Belly. What was once a source of amusement has now become an area of intense focus and concern. Over time her ability to breathe will decline. We know this. For now we watch and we wait.
Angry phase moved in on me today. Just so very mad. Watching the ID channel to find stories that would hurt more. To loose a child suddenly to violence, that would be worse, it must be. If those parents survive, so can we…
Elie in her brand new wagon ! Thanks Aunt Dana!
Informative meeting with Emory Genetics today.
If anyone would like to get tested for being recessive carriers of SMA (especially in our family, since I obviously received the gene from either the McMurry or Innis line, as did Darin (they even asked us if its possible we are related!)) , they can take your blood at Emory, or they would be willing to look up more local resources for you. Just let us know and we can ask them for you.
***** For our siblings, there is a 50% chance that you are a carrier. (For Cara and Krista, that would likely apply to you too, since we essentially have all the same lineage) In the Caucasian population in general: 1 in 35 people is a recessive carrier. When two recessive carriers get together, there is a 25% chance of having a child with a deleted SMN gene, resulting in SMA like Elie.
There are multiple genetics counseling/family planning options if you do find out you are a carrier, so you can prevent this when you have children. I just wish we had known.
They are attempting to raise awareness about SMA so that more parents can make informed choices about testing. Please spread the word.
For two and a half hours Elie gets to be feeding tube free. (Too bad removing the tube tape isn’t so fun)