Thursday, January 15, 2009

Down syndrome and Windpipes

Sophie had her first meeting with our area pediatric lung specialist. He's our new ologist, pulmonologist that is. He listened to Sophie's chest as well as encouraged her to talk so that he could hear her voice. She coughed a few times and although my ear hears congestion, he still hears a bit of the bark. We played our recording of the latest battle with croup and he listened closely, calling her cough a seal bark. He spoke of stridor (the sound of the struggle to inhale).

Then we got a science lesson that went a little like this: Children with Down syndrome have midface hypoplasia, macroglossia, a narrow nasopharynx, and a shortened palate. (Translation = little face, little parts) These anatomical abnormalities along with generalized hypotonia (low muscle tone), an immature immune system, and a tendency to obesity predispose children with Down syndrome to upper airway obstruction. Gastroesophageal reflux disease (GERD) and chronic lung disease are also common in these children and may worsen airway problems. He went on to discuss the problem of sleep apnea, especially as she gets older.

Asking how Sophie's cough tends to come on, we described symptoms of a cold for a day - 1.5 days, then her cough changes from congestion to the seal bark, getting worse over the next day, croup for 3-4 ish days with a cold remaining for a week or more after croup. We discussed her meds, first a tablet, Dexamethasone 4 MG crushed, to cover 72 hours. Then Predisolone SOD PHOS 5MG/5ML SOL, 9 ML twice daily (liquid). We asked about a nebulizer with Pulmicort. We won't yet be making any decisions on treatment for future cases of croup.

Our next lesson was a mathematical formula about breathing, pressure, and radius of the windpipe that I won't even try and repeat. The message is simple; a very, very small change to the size of the windpipe can have dramatic changes to breathing. A typical adult's windpipe radius, is 16 times greater at moving air than a small child's. When you add the possibility of an already smaller than typical windpipe, anything that restricts the size can make a big difference. Inflammation from a cold virus, trunk hypotonia (that low tone business again) or 'floppiness' of the cartilage or airway itself (malacia), you can have problems. I asked if it was common to have the malacia when symptoms only present with a virus (meaning the cough only comes with a cold, not all the time) and he said, yes. My own research has lead to learning about laryngomalacia, pharyngomalacia, supraglottoplasty, and tracheotomies, but I'm getting way ahead of myself.

Dr. Lung needs to see what we're dealing with, so the next step is a pediatric flexible bronchoscopy which will be done in a week at our local hospital. I overheard him with his scheduler who informed him that he didn't have an opening next week and he said, make one. Move the conflict to my lunch hour. She's had 4 significant episodes in 2 months time.

So it goes, after midnight, no food or water. Check in at 8:30am, procedure at 10am lasting about an hour plus wake up time. Sophie will have her feet and hands numbed with a topical solution so that they can place the IV. The IV will keep her hydrated as well as deliver meds (I forgot to write down what he listed). She will be deeply sedated but not put completely out, meaning she will be doing her own breathing, some moving around or even crying with no memory. He reviewed her heart issues (small PDA a year ago and echo scheduled for next month) and is unconcerned as he cannot hear a murmur, which hopefully means it has closed on it's own. They will monitor HB, breathing, BP, O2 and give extra oxygen. They will also numb her airways.

A small instrument will go down her nose or in her mouth to look at Sophie's throat, voice box, windpipe, and smaller breathing passages of the lungs. There is no incision, this is commonly done, and is quite safe. He will be looking for any anomalies such as inhaled foreign object, tumors, and shape and size of her breathing parts. He told us to expect her waking up time to be an hour and likely she'll be sent home the same day. If she doesn't come off the sedation well or if he sees something he doesn't like, she'll stay overnight.

Once we know what we're dealing with, then we'll come up with a treatment plan. Mark's mom is coming up to hang with Alexander. It's the first week of classes so Mark can't be there. If you're local and want to hang with me in the waiting area, let me know.

As I reminded Mark, nothing has changed because of this consult or the procedure. We'll simply have more information in a week with a better idea of how to treat her when the coughing starts. And then we move forward.


RK said...

That's alot of info but it shows he's very thorough. I hope the procedure goes well and they get some good answers and a favorable treatment plan soon follows.

I won't get to be in town to sit with ya, but call me if you have down time you need to fill.

Anonymous said...

It is amazing what we learn from motherhood! Five years ago did you ever think you would know the things you know now? You are amazing. As I can not be there with you in body, I will be with you in spirit. I will say a little extra prayer for you and yours tonight. Miss you...the prairie

Anonymous said...

sounds like a good appointment and the doc knows his stuff...when is the procedure? Email me with the details and I'll see if we can swing some waiting room company :)

Molli said...

lol @ "little face" :o) love that little face!