Life with MS & EDS

November 29, 2008

Lil Sister’s Hypotonia

I’m not sure whether to start with the MS or the EDS, so I suppose I’ll do it in diagnosis order and that involves starting with my little one. Little Sister is almost 4 and a half years old now. When she was 9 months old she was diagnosed with Hypotonia (low muscle tone.) She could not sit up, did not crawl, couldn’t put weight on her legs, and would not lay on her stomach. The base of her spine appears to come to a “Y” shape and has two dimples on either side, but otherwise nothing looks different about her. Other than hyperemesis (major nausea) during pregnancy and labor so quick a resident had to play catch ten minutes after arrival at the hospital, her entry into this world was uneventful. The pediatrician on call who saw her first did ask if there were any neurological conditions in our family history (because of her back), but we didn’t know of anything.

She began physical therapy and occupational therapy at 10 months old and we started looking for answers. We saw a neurologist at the Children’s National Medical Center in DC. The first things they had to rule out was Cerebral Palsy (CP) and Spinal Bifida. Those were pretty scary things to have to consider. Lil Sister had a brain and spine MRI which thankfully came back clean. So, her brain and spine were normal, but something was causing this developmental delay.

Therapy continued and progress was slow, but she never regressed. Thankfully her cognitive development was on track. That was rather comforting. We added speech therapy to deal with oral-motor issues. Once she got tubes in her ears and could hear again, her speech began to improve although she still drooled a whole lot and didn’t chew food correctly.

Many things occurred over the next couple of years, too many to capture here. She continued to have sensory issues and low muscle tone. She was also very bendy. About a year and a half ago she developed a series of very high fevers every 6 weeks or so. We determined that her tonsils and adenoids had to be removed. Once they came out (last December), the fevers went away and her speech (once she decided to talk again) was fantastic! The drooling stopped, too. The change was dramatic enough that she was dropped from speech therapy.

So, what does any of this have to do with EDS or MS? I’m getting there. A couple of years ago we left the DC area and came to the Philly area where she started seeing a fantastic neurologist at the Children’s Hospital of Philadelphia (CHOP). We ruled a few more things out there, but she remained “loosey goosey” – her neurologist’s term, not ours! Eventually her Neuromuscular Clinic doctors were at a loss and sent us over to the Connective Tissues Clinic. There’s only one doctor in that clinic now, so it took a while to get an appointment. We filled out the 12+ page questionnaire and had a fun time asking family members somewhat strange medical questions. We took Lil Sister to see the doctor this past June. All of our family history (actually, all of MY family history) pointed to her having Ehlers-Danlos Syndrome, Hypermobility Type (Type III).

EDS made complete sense! Once I started reading about it, it explained over 90% of my medical issues. I was always very bendy and could bend my hands and fingers in ways that could gross other people out. Of course bendiness of the joints eventually pisses off the muscles and tendons, which explains my DeQuervain’s (like carpel tunnel, but in the thumb area.) EDS also explained why Lil Sister scooted instead of crawling and didn’t walk until 26 months old, among other problems.

EDS was a diagnosis I handled really well. It explained symptoms I already had. Yes, there could be heart valve issues (my grandmother did from what we now know was EDS), so Lil Sister and I had our hearts checked to establish baselines. Both of our tickers look great! We have been advised to have our hearts checked every 3 years or so and Lil Sister will need hers checked more frequently during rapid-growth periods (puberty). Thank goodness she has state medical insurance in addition to our regular coverage! Also, I could get arthritis earlier in life, but given my family’s history I expected that. The kind of EDS we have is very manageable and Lil Sister just needs to keep getting stronger, take minor precautions, and she’ll be fine! The EDS diagnosis was a relief. We could finally stop searching for answers and just focus on treatment and moving forward.

By the way, there’s a fantastic Hypotonia Board over at iVillage full of amazing parents talking about their experiences with their fantastic children that is definitely worth checking out if you have a child with developmental delays.

November 28, 2008

A Reason to Blog

I’ve been trying to come up with a reason to blog for a while now. Unfortunately, I now have a main topic area. Just about 5 months ago I was diagnosed with Ehlers-Danlos Syndrome (EDS) and just last week found out I have Multiple Sclerosis (MS). Apparently I’m hitting the genetic jackpot left and right. My mind has been overwhelmed with the news and perhaps blogging will bring some clarity, allow some place to vent every now and again, and to have a place to track how things are going.

I’m not sure where this will lead or how often I’ll get to post, but here goes nothing….


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