Hannah update, as of 3/27/2010

I just realized that it has been almost 8 months since I did the last general Hannah update!

Where Hannah is at (20 months 0ld)
Physically, Hannah is doing pretty stable since her last update.

• Hypotonia (muscle tone weakness), especially in her legs, is still pretty significant.  However, thanks to hydrotherapy, physical therapy, and lots of playtime with us at home, she has really gained in the area of gross motor development.  She is able to reciprocal crawl on her knees for more than 30 feet without stopping, she loves to cruise around furniture and really loves to stand assisted.  She is able to sit on her own, but she is only able to get into the dreaded “W-sit” on her own (sitting with her legs in a W shape, gives her a bigger base of support) which is not so good for her hips.   She has a gait trainer now (like a walker), and she has just started using that, which we hope will help give her the strength in her legs needed to walk on her own.
• Swallowing/Feeding issues. Her laryngomalacia (throat muscle tightness) and vocal cord paresis (weakness) has actually improved over the past 6 months, which was a great surprise to everyone on her team.   After our most recent visit to the NIH this past month, their swallow study (xray watching her swallow) revealed that she does not have the knowledge to chew her food before swallowing and also possibly has a hypersensitive defensive gag reflex, therefore, we are going to keep Hannah on a liquid diet (with a few cheetos as long as she does not choke!).  When we return to the NIH in 6 months, we will learn more about this swallowing issue and whether it is progression of her disease or immaturity in her oral feeding skills.
• Abnormal Eye Movements. She still has really poor muscle movement of her eyes both horizontally and vertically.  Basically, she has almost a webcam-type of vision.  However, she compensates really well by thrusting her head when she wants to look at something.  Her vision, however, is perfect.
• Cardiac issues. She still has a patent foramen ovale and a slightly dilated aorta, but there is nothing of acute concern at this point.  More like to keep an eye on things.
• No failure to thrive! Many type 2 children have failure-to-thrive issues, and all the doctors at the NIH at our recent visit were pleasantly shocked to see how healthy she looked.  She is almost 25 pounds and around 31 inches!   She had plateaued her weight for almost 5 months at 22 pounds while we were trying to figure out her feeding plan, but once we did, she is finally gaining.

Developmentally, she definitely has global delays.  Most of her doctors and therapists put her between an 8-month-old and a 12-month.  But, and this is most important, she is still learning new skills, they are just very slow, few, and far between.  Just recently she learned how to put things into a container (mastered taking things out awhile back), handing a toy to someone when asked (with visual sign language), and holding a bottle with handles on her own.   She is starting to learn tasks much quicker than she did in the past — whereas it may take a couple of months trying something new before she would get it, she will now get it within a few weeks if it is something she can comprehend doing.

Most importantly, she is an incredibly happy and smiling baby.  Now that her vocal cord weakness is starting to improve, we are actually starting to hear the beginnings of a vocal laugh and cry/tantrum now.  For so long, she was a silent laugher/cryer, sometimes to the point of hyperventilation.  But she is slowly learning to utilize her voice, even though all her communication is still babbling and her own unique gurgling sounds.

After our most recent NIH visit, we were finally able to get rid of the classic type 2 Gaucher’s diagnosis.  However, they don’t feel comfortable giving us a type 3 diagnosis.  Hannah is considered more of a spectrum Gaucher case.  What Dr. Schiffmann told us many months ago still holds true — Hannah is somewhere between a mild type 2 and severe type 3.

As for disease progression, we definitely see that it is affecting her much more than it was 8 months ago.  However, it is progressing much slower than everyone anticipated, which is a gift.  We finally get to do something that we did not believe we would get to do one year ago — plan her second birthday party!