Boo the medical enigma

Boo is just Boo to us. The medical community has no idea what to make of her. She has many little things wrong (for lack of a better word) with her. On their own (say the Laryngomalacia) would be easy and manageable. But combined with a host of other systems gone awry Boo has made the first 3 years of her life very interesting. 

Some of this might be too much info, but here is the story of Boo.

Boo was born after an uneventful pregnancy (other than thinking my feet were going to explode due to swelling). She was a planned c-Section (this baby mama was apparently not made to give birth). When I arrived at the hospital and they hooked up monitors and decided she was decelerating. This got me bumped from 4th case to 1st (oh joy!). 

Since I was kind of drugged at this point, this is what I remember: Boo was covered in meconium and she had to be suctioned. They told me that she did not aspirate the meconium (and yuck when I learned what that was!) and that everything was fine. I do not recall her Apgar score, I just remember falling in love.

Shortly after the anesthesia wore off, probably the next day, I noticed Boo was breathing funny. Our pediatrician did not have privileges at the hospital so we had whatever pediatrician was on call that day. I was told that I was an 'over-reactive' new mother and that Boo was fine.  Of course, in their defense Boo's breathing was erratic and I probably did not convey my concerns properly. Instead I was embarrassed for over-reacting. Never again would I feel that way.

The VNA did a well-being check the day after we were discharged from the hospital. Within 5 minutes of being in our home, the nurse asked how long Boo had been breathing that fast. She was breathing at 90-120 breaths per minute. To put it in context, the average newborn breathes at 20-40 breaths per minute. In some cases, an awake newborn can breathe as fast as 60. Anything higher (for a sustained period) is a concern. 

The nurse did not want to wait until we saw our pediatrician the next day. Instead she had them paged (it was a weekend) and we were immediately sent to Children's Hospital. The next week was spent in the NICU. There she was diagnosed with 5 cardiac defects, pulmonary edema, myocloniac seizures, tachypnea (fast breathing rate), an immature EEG pattern and a scary habit of putting her tongue to the top of her mouth and almost passing out.

Within the first year of her life her tachypnea resolved, four of her cardiac defects resolved on their own (My Facebook status Dec 8, 2009: The Holes Are Closed! The Holes are Closed!). She was hospitalized six times that first year of life. Boo also acquired 15 new specialists and a bunch of things to worry about:

• GERD/Allergic to all formulas
• Larngolmalacia
• Aegis of the Corpus Callosum
• Genetic abnormality never seen before
• Aspiration
• Hypotonia
• Pulmonary Edema
• Global developmental delay (severe)

All of these, of course, were with no known origin. Most of her first year Boo was in severe pain. It took almost 6m to figure out she was allergic to her formula. We finally got the prescription for Elecare (after telling the insurance CEO secretary that we would be dropping Boo off at her house with the store bought formula they thought was fine). Early Intervention (EI) was started at 4m and she was evaluated to be at the 1.5m development age. But Boo turned one, at home, unlike so many of the children and families we met that first year.

Boo at 1 year

Unlike most children, Boo was unable to sit unassisted at a year old. Thankfully some one invented the Bumba (or as we called it the Baby Koozie). I thought the next year would be easier. And it was, in some ways. I don't focus on the hard times. But to understand Boo you have to know about them.

After she turned a year old Boo began something called feeding therapy. This was something I was totally ignorant of! We were told that her corpus collosum being "too thin" would mean she would be severely delayed. To what extent they did not know. Since I chose to believe that if they did not know the extent of her delay that meant we should try everything to increase her chances. Against the advice of EI we began PT (both land and pool) outside at a dedicated children's therapy center. We also started SPT (against the wishes of EI,too!) towards Boo's 2nd birthday. Yes, she was hospitalized a couple of times. She began turning blue in her hands and feet whenever chilled. Rheumatology doesn't know why but they think it might be Reynard's, although it has never been diagnosed this young. And she had to remain on thickened feeds. She wasn't walking but doing the strangest commando crawl ever devised. But against all odd, Boo was growing developmentally. At every evaluation Boo was considered developmentally, half her life behind. So at 2 years, she was only a 1 year-old. Again, to me, she showed growth and that is what matters!

Boo at 2, sitting independently!

Because she still wasn't talking at 2 we increased her speech therapy and began OT to help her with some sensory issues and motor planning. She was diagnosed as 'short' which was extremely funny to us. I am barely 5ft 2in with mall bangs, my husband is 5ft 4in and my MIL is not even 5ft. I think it would be more alarming if she wasn't!

Working with her fabulous PT therapist we started having Boo use a pediatric walker around Christmas time. Most kids get a bike, Boo got a walker. She was hesitant at first but then began chasing Abby around the house!

You know how insurance companies are! Boo used a loaner until we could convince the powers that be that she needed a walker to walk (and run!). Once Boo started walking she began to make so many gains. She began signing and using four or five words. Then the ball dropped.  Because her bowels were so, well gross, fluctuating between extreme constipation to extreme diarrhea her GI doctor recommended an MRI of the spine. As she had to be sedated her neurologist recommended a rescan of her brain. We got both good news and bad. Boo's corpus callosum thickened. Completely. Yes, her brain pattern was still slow, but the growth of the corpus callosum meant that her neurological delay shouldn't be severe (good thing I was aggressive with her therapies, take that EI!). 

The MRI of the spine also showed a tethered spinal cord. Boo would have to undergo spinal surgery that summer. This was devastating. She had been on the pediatric walker and was just starting to transition off. (you can read about that here: A year ago today) Thankfully the surgery went well and that was the only hospitalization for the year. Funny how the little things make your year, isn't it?

Boo turned three, walking independently, off thickened feeds (she still has penetration but not aspiration--insert your own inappropriate Bill Clinton reference here!) and still growing! Of course she is still short, but that's okay with us! She began the special education program in our public school system. I have heard horror stories, but ours is phenomenal.

As she turned 3 the doctors still don't know why she is the way she is. I call it Bridgetitis. She still has one cardiac defect, severe global developmental delay, laryngomalacia, she still turns blue in the cold and clammy in the heat. She still gets sicker than most children. The common cold easily turns into bronchitis. Genetics thinks that when she is finally diagnosed it will be a neurological disorder, because in the end all her 'issues' seem to be linked to the neurological system. The science isn't there yet, they tell us. But Boo is growing and developing. Just at her own pace. She is undiagnosed, but we are okay with that.





And that is the story of Boo. So far!