This blog is dedicated to differently-abled children, particularly those diagnosed with a radial ray defect, hematological issues, Failure to Thrive, developmental delays, microcephaly, cerebellar dysgenesis or cerebral palsy.

Sunday, December 21, 2008

More news about Dr. Paley's move

Dr. Paley called us at home this afternoon to update us on his move, which was very kind of him. He will be moving his practice to Orlando, Florida, to the Disney Children's Hospital; everything should be in place by 1 June 2009. He says that there is a Ronald MacDonald House very nearby, and that he will put us in touch with his secretary to make all arrangements sometime early next year.

I told him that we had decided that it might be better to wait to do Emma's arm surgery (currently scheduled for 30 June 2009) until January 2010 so that I have a lengthy period away from teaching duties. Perhaps mid-December 2009 would be even better (immediately after final exams so that I would have nearly 8 weeks until I had to start teaching again) but that would mean we would spend Christmas in Florida...well, that might not be all bad!

I just want to be sure that I'm able to be there as much as possible so that Paul isn't left alone with Emma and Matthew in a strange place....it would be very difficult.

In any case, because Emma has developmental delays Dr. Paley thinks that it's better to perform the surgery a bit later, so winter 2009/2010 will be fine.

I will post more after we actually schedule the surgery date.

Friday, December 19, 2008

Updates

Emma saw her neurologist and gastroenterologist this week. Dr. Collins, the gastro doctor had Emma's genetic test results back: yes, she DOES have one of the celiac genes! Emma has the one that I don't have; I have HLA DQ8 and Emma has HLA DQ2. Which means she didn't get it from me! Nevertheless, this means that she does have some chance to develop celiac disease, if she doesn't have it already. So I definitely WILL put her on the gluten free diet with me in the near future. Also, Dr. Collins wrote a prescription for Emma to start taking Previcid, which is what her cousin Carly takes for GERD. Carly has celiac disease; she was diagnosed via biopsy.

The neurologist, Dr. Imbus, didn't have a lot to tell us. I asked for a copy of Emma's chart, so that we could send Regional Center the records showing Dr. Imbus has entered a diagnosis of 343.9, Infantile Cerebral Palsy, non-specific. We hope that this will enable Emma to continue as a Regional Center client after she reaches the age of 3.

Also, Emma was FINALLY seen by the OT and PT people at the Claremont Medical Therapy Unit. They evaluated her and I really liked both of them. The PT person is Julie and the OT is Irene. Emma did very well; I was amazed at one point when Julie got Emma to stand for several seconds leaning against a little bench. Then she put Emma in a small Rifton walker and let her go. She got her to walk forward and backwards.

Emma was being a bit shy, as she always is around strangers. She wouldn't talk at all to either of them. Irene tried to get Emma to throw balls and other things and that wasn't working so well.

Of course, the instant Julie took Emma out of the walker, Emma forgot all about being shy and announced, "I want to go in the walker!". She absolutely adored that Rifton walker! Julie says that they may be able to loan it to us temporarily, but they will try to help her get one of her own. Emma's current walker at home is just a standard walker for babies, and it is too short for her now.

I'm SO glad that they agree that mobility is important for Emma; that's what she craves right now! Julie and Irene also asked what we thought about a wheelchair for Emma, but I said that a standard manual chair wouldn't work because her hands and arms are too weak to move one. We may have to have a wheelchair for her at some point, but both therapists said, "This girl is going to walk!" while they were observing her in the walker.

It's really exciting when a professional says something encouraging like that! Her doctors never make those kinds of predictions. Maybe they think it's unprofessional? Or they are afraid to say something like that in case it doesn't happen.

I think Emma will walk...when she's ready to.

Wow, is Emma talking!

Emma is definitely very verbal for a two-year-old....she's stringing long sentences together, and they actually make sense!

The other night about midnight I was trying to get her to go to sleep and she looked at me with her hands up to her cheeks and said in her sweet little voice, "I can't go to sleep; what am I going to do?".

Then again, yesterday when she was in her high chair she told me, "I want to go in the walker", which is something she says quite often because she LOVES her walker! I looked at her and asked, teasingly, "Was that a command, your Majesty?".

Emma didn't hesitate a moment. "Yes", she said, with a very serious expression on her face. Kids can be so unintentionally funny!

I'm still trying to get some of this in video; I'd love to put more videos of Emma on this site.

Tuesday, December 16, 2008

Sleeping babies

Emma's such a sweet little girl...I know that I'm biased, but I'm not the only one who sees her beautiful loving spirit. Everywhere she goes she causes more fans to join the Emma fan club.

I can't resist her when she looks at me and says, "I want to hold you!". Which is Emma's way of asking to be picked up. She loves to cuddle. Lately she's started kissing me and Paul spontaneously. If she's in her walker, she comes over and starts kissing our knees. It's too cute!

Unfortunately she's been having trouble sleeping at night (we think it's the GERD) so sometimes she ends up in bed with us, sleeping in my left arm. This elevates her head enough to keep her from having bad reflux attacks so she can sleep better. I didn't realize how much I had missed having a baby sleep in my arms until we got Matthew, and then Emma. Both of them have spent some time sleeping in my arms (it's a good thing we have a big bed!).

I learned long ago in a galaxy far away (when I was breast-feeding my four biological children) how to sleep perfectly still and hold a baby and keep one hand against my husband's back so that if he even STARTS to roll towards the baby I instantly wake up and push him away. It's like riding a bicycle; your body never forgets those hard-won skills.

When she's in my arm, asleep, I love the sweet baby smell of her hair, the wispy softness of it. She looks much younger than she actually is because she's so small. I realize that these are probably my last chances to cuddle a sleeping baby; it's unlikely that Paul and I will adopt any more, although we've discussed it.

Well, I am enjoying this phase of Emma's life while it lasts....she won't be a baby forever! But I know that there will be things to enjoy about each and every part of her life, as she transitions from baby to child, from child to pre-adolescent, from pre-adolescent to teenager, from teenager to adult. If the Lord grants me the time here on Earth to see all of these things happen, I will be very grateful!

Sunday, November 30, 2008

Evidence of trigeminal anesthesia?

Paul and I have noticed that Emma is propping her head up in the Pack 'n Play by resting her face against the mesh sides.



I'm sure this helps her watch TV; she will stay like this for long periods of time. We've found her asleep with her face pressed against the side more than once. It causes her little nose and chin to be very red and irritated. It makes me wonder if her ability to feel sensation in her face is at least slightly compromised.

Dr. Paley is leaving the Rubin Institute!

We got a letter recently from the Rubin Institute to inform us that Dr. Paley is leaving! Emma was scheduled to undergo surgery on her arms in June 2009, so what does this mean for her?

I suppose the best thing for me to do would be to email Dr. Paley about this and ask him. But this will almost certainly delay Emma's surgery.

Saturday, November 22, 2008

One in a trillion

Brief updates on medical stuff....and commentary.

Our last visit with Emma's neurologist, Dr. Imbus, yielded very little new information. We talked about the new (tentative) diagnosis - GLH Syndrome - and he re-iterated that she fit the profile, aside from the fact that we haven't seen any evidence of trigeminal anesthesia. But a couple of GLH people in the literature did not exhibit this characteristic, either.

He measured her head, still at 45 cm....she's still in the microcephalic range, below 2 standard deviations.

Dr. Imbus thinks that Dr. Mark Krieger should revisit the possibility that Emma has craniosynostosis - both coronal and lambdoidal.

And, quite casually, after I asked a question about whether Emma fit into the category of cerebral palsy, he glanced at one of the papers in her chart and noticed that he had already entered the following diagnosis: infantile cerebral palsy.

Well, the "up" side of this, if there is any such thing, is that this puts Emma in one of four categories of kids that California Regional Centers must continue to take care of after the age of three. Which will be good for Emma.

I do pray that Emma will someday sit, stand, and walk on her own, though! She wants to SO badly! Lately she asks to be in the walker almost constantly....she longs to be mobile like her brother Matthew.

We've also seen Dr. Roberts recently, and she concurs with the GLH diagnosis as well. Emma will be getting blood drawn (FINALLY) at CHLA on December 1st for that German research group (Klopocki, Mundlos, et al). I'm quite excited about finding out if her DNA characteristics are the same as the other TAR Syndrome patients or if there is something profoundly different about Emma.

She is such a special little person...in every way! Medically speaking, Dr. Roberts says that Emma may literally be one in a billion. I think she's one in a trillion myself: in personality, in sheer penetrating intelligence, in her sweet loving and lovable little self.

Emma is an amazing gift to our family....thank you, Lord, for entrusting her to us!

Saturday, November 1, 2008

A couple of adorable Trick-or-Treaters!!

Princess Emma:







and her big brother Matthew as the engineer for Thomas the Tank Engine:







Setting off in the dusk to visit the neighbors and get LOTS of candy!

Thursday, October 30, 2008

Medical papers posted

I've posted a link to several journal articles here on Emma's site (see the Helpful Links section on the right hand side; it's the first link) on the following topics:

1. People with TAR Syndrome and cerebellar malformations (2 papers)
2. People with rhombencephalosynapsis and hand abnormalities or cerebral palsy (2 papers)
3. Gomez-Lopez-Hernandez Syndrome (4 papers)

All of the papers are in PDF format.

Wednesday, October 22, 2008

What is "normal" anyway?

Just thinking about the word "normal", because I was wishing (for her sake) that Emma could be....

But then I remembered that blog "Better Than Normal" about the "differently-abled" little boy named Daniel who's near Emma's age....I love that title! :)

Here is a link to Daniel's blog: Better Than Normal

And I think about Emma, how she frequently wakes up singing "I love you, you love me...." or "Twinkle, twinkle little star". How affectionate and cuddly she can be, and how incredibly SMART she is sometimes!

Then I realize that Emma is who she is, and she's a wonderful little human being. Sure it would make life easier for her if she didn't have all of the issues and disabilities that she does, but I have to believe that she will be OK anyway.

Saturday, October 18, 2008

Syndromes and more syndromes.....

I was doing more research on the Internet about Emma's latest diagnosis, rhombencephalosynapsis (aka RS), and one paragraph mentioned that there is a rare syndrome whereby all those afflicted by it are born with RS. The long medical name of the syndrome is cerebellotrigeminaldermal dysplasia, but it's also known by the names of the doctors who first described it: Gomez-Lopez-Hernandez Syndrome.

Paul says it sounds like a Tijuana law firm.... :)

In any case, of course I HAD to go look it up. It turns out that it's incredibly rare....only nineteen cases reported in the literature so far (as of February 2008). I found the major papers, with descriptions and pictures of the children, and downloaded them.

And now I'm absolutely convinced that Emma has this syndrome.

Some of the major distinguishing characteristics of GLH Syndrome are:
  1. rhombencephalosynapsis
  2. partial scalp alopecia (distinctive bald spots on the sides and bald strip in the back)
  3. trigeminal anesthesia (no sensation or diminished sensations in the face)
  4. craniosynostosis or asymmetric skull (turricephaly)
  5. Hypertelorism (wide-set eyes)
  6. Midface hypoplasia (flattened mid-facial region)
  7. small nose
  8. smooth philtrum
  9. thin lips
  10. high arched palate
  11. low-set, rotated ears
  12. strabismus
  13. intellectual impairment
  14. ataxia
  15. seizures
  16. short stature and/or HGH deficient
Emma exhibits ALL of these except for 3, 10, 13, and 15. Many of those who have been diagnosed with GLH Syndrome don't exhibit all of the characteristics either....the major constant features are the RS, the bald spots, and the "cone-head" skull (turricephaly). And of course Emma had eye surgery to correct strabismus (#12).

Here are some pics from medical journal articles I downloaded which show the bald patches and the other features ("wide-set eyes", oddly-shaped skulls, etc.):







And here is Emma from the back, taken today (she's got braids today, so you can see the bald spots):







Here are a few other Emma pics taken some time ago:






It's amazing to me how the pictures of those babies from the medical articles resemble Emma....the same tiny nose, the same wide-set eyes, the same pattern of bald spots. It's not easy to see in these pics of Emma, but she does have the long, oddly-shaped skull as well. They tried to re-shape it using a DOC helmet but it didn't work.

I'm planning to send copies of these articles to Emma's doctors so that they are prepared for a discussion about the possibility that Emma has GLH Syndrome when next we meet.

But I just don't understand this....how can Emma have TWO very rare syndromes at once?? TAR Syndrome AND Gomez-Lopez-Hernandez Syndrome together? Isn't that like lightning striking in the same place twice? Or are the two syndromes somehow genetically related to each other and no one has ever noticed this before?

All I know is that I want answers! I want to understand all of this!!

I suppose that my insatiable drive to understand is just an attempt to "control" the situation, even though I know that I cannot really control anything about Emma's conditions.

I would gladly take her illnesses on myself, if it would free her to be "normal". I wish I could.

Visit with Dr. Imbus....and confirmation of a new diagnosis

Last Wednesday we took Emma to see her neurologist. We gave him the MRI CD and the printed reports with the findings from Dr. Nelson (the neuroradiologist at Children's Hospital of Los Angeles).

Dr. Imbus had never heard of rhombencephalosynapsis, which isn't surprising given its rarity. He had to look it up in his big pediatric neurology book, and even that only had 2 sentences on it! But he looked at the images, and said that he saw the same things described by Dr. Nelson. When I asked him why no one had ever spotted this problem before, Dr. Imbus just smiled and said, "Because Emma's MR images were never read by Nelson before." Then he explained that Dr. Nelson is one of the best neuroradiologists in the world (possibly THE best in the world).

So...the bottom line is that Emma definitely does have rhombencephalosynapsis. I asked Dr. Imbus if this explains Emma's tone issues and he said yes, absolutely, because people with damage to the cerebellum are generally "floppy", as he put it.

He asked if there were any articles in the literature about TAR Syndrome and cerebellar anomalies. I couldn't remember any, but sure enough, when I got home and Googled "TAR Syndrome cerebellum" I did find some. So it's possible that this cerebellar malformation is just another TAR Syndrome thing. I'm planning to write an email to Dr. Judith Hall (the doctor who coined the name "Thrombocytopenia Absent Radii Syndrome") to ask her what she knows about brain anomalies and TAR Syndrome.

Tuesday, October 7, 2008

Emma's long-awaited MRI results

We got the results from Emma's recent MRIs at CHLA today. I say that they are "long-awaited" because we've wanted her to have a brain MRI for a long time. We felt that it might shed a little light on some of Emma's problems, but we were always told that we had to wait until she was somewhere between the ages of 2 and 3.

On September 29th they imaged her chest and spine (because of the cyst in her chest) and her brain (because of her neurological symptoms and microcephaly). Since Emma had an appointment to see the pediatric surgeon at CHLA, the one who had ordered the chest MRI, we decided that we would go down to radiology and pick up a CD of the MR images and the reports while we were there.

Emma's new neurologist, Dr. Imbus, wants to see the brain images of course. He surprised us at her first appointment with him when he told us that she DOESN'T have spastic diplegia! So I asked why she couldn't walk yet, and he said that part of the problem was that she's hypertonic in her legs and she can't straighten them out very well. But I guess that begs the question....WHY is she hypertonic in her legs? And WHY is she hypotonic in her trunk?

Anyway....back to the MRI results. I was absolutely floored when I read the results of the brain MRI. The "Findings" section says:

"The cerebellum is malformed with the central white matter continuous across the midline. The ventricles are normal in size and configuration. The brain parenchyma is of normal signal intensity on all sequences without focal abnormality. Myelination is appropriate for the patient's age."

The "Impression" (is that a formal diagnosis or just a WAG??) section says: "Rhombencephalosynapsis, a malformation in cerebellar development."

I Googled "rhombencephalosynapsis" and found out that it's SO incredibly rare, they think that fewer than 1 person in a million has it. Only ~50 cases have been reported in the literature. And the same literature reports that most of those who have it die in childhood, although I found a few references to adults, mostly in their 20s and 30s but one woman who was 48 years old.

I'm really, really freaked out right now. Holly, I know that you know EXACTLY how I'm feeling. :(

I tell myself that we haven't heard this "officially" from Emma's neurologist yet. And if rhombencephalosynapsis is so rare, how many times can the doctors at CHLA have seen it? What if they're wrong? Also, if it's so rare, then the odds are that Emma DOESN'T have it....right?

And we have the Great Physician on our side....I must remember that too.

Sunday, August 10, 2008

Emma singing...and standing...and using her hands!

Emma has been singing a lot of songs lately..."Twinkle Twinkle" and the Barney song ("I love you, you love me") are a couple of her favorites. I'm still trying to get a video of her singing those two songs.

But she has also been trying to sing the "ABC" song, and I've managed to capture a couple of her attempts on video. It's a short clip (less than 4 minutes long), and she starts and stops the song a couple of times. She does an (almost complete) rendition of the song starting around the 3 minute mark.

Also, you'll notice that she is standing with support in her walker, AND she is using her hands to grab her toys! Both of which are very exciting indicators of progress to us!!

Anyway, here is the video.....enjoy!

video

Sunday, June 15, 2008

Emma is TWO YEARS OLD!!!

Emma celebrated her second birthday with the family on 7 June 2008. She had a wonderful time, and just LOVED her beautiful cake, and she received many, many presents!

Emma's cake:



Emma trying to blow out the candles.....



One candle down, one to go.....!



Boy, is my tummy FULL!!



PRESENTS!



Big brother Matthew likes the presents, too!



The next day, the party continued at Grandma June's house...Emma and Matthew played in her backyard. Here are pictures of some of her beautiful roses:



And Matthew and Emma in the yard with Daddy...



Emma playing on the grass...





Here is a very short video clip of Emma on the grass (the batteries died). She is saying "in the grass" and "feet" (because she's rubbing her bare feet on the grass). Then she hears a siren in the distance, probably a fire truck, and says "fire truck" and then "oh no!".

video

More of Emma's presents....she was given some GORGEOUS outfits (with HATS!) by Grandma June (with the help of Paul's sister, Robyn, who did the shopping):









Of course, Matthew decided to model hats, too!





Anyway, Emma is a big girl now, and is very excited about being TWO YEARS OLD!

Saturday, May 31, 2008

Wonderful news!

One of Emma's many physical issues that has been under investigation lately is the so-called "retrocardiac mass", which was first seen on x-rays and then subsequently viewed multiple times via ultrasound and even MRI. It's a small anomalous structure (maybe some sort of cyst?), approximately spherical in shape. The mass lies between her heart and spine and appears to be attached to her esophagus. During the last ultrasound the tech examined the area in doppler mode and saw no evidence of blood flow through it (which is good!).

Recently Emma saw a pediatric surgeon at LAC+USC Women and Children's Hospital who ordered a barium swallow study done. She explained that she wanted to rule out any possible transfer of food or bacteria back and forth between Emma's esophagus and the cyst-like structure.

We saw the surgeon yesterday (Friday, 30 May) to learn the results of the barium study....she says that there does not appear to be any reason for surgery at this time!! They plan to keep an eye on it to see if it is growing, though.

HOORAY!! NO SURGERY!! (at least, not right now!)

:-)

Sunday, May 11, 2008

Mother's Day

Today is Mother's Day, and I saw a wonderful post in one of my Yahoo Groups, and thought that I should share it. It refers to two other essays, "Welcome to Holland" and "The Special Mother"....I've added links to these essays in the Helpful Links section. Happy Mother's Day to the special mothers out there....to all who parent special needs children, whether they are your biological children, or adopted....the essay below is a beautiful tribute to all of you!

**************************************************************************************

Many of you I have never even met face to face, but I've searched you out every day. I've looked for you on the internet, on playgrounds and in grocery stores. I've become an expert at identifying you. You are well worn. You are stronger than you ever wanted to be. Your words ring experience, experience you culled with your very heart and soul. You are compassionate beyond the expectations of this world. You are my "sisters."

Yes, you and I, my friend, are sisters in a sorority. A very elite sorority. We are special. Just like any other sorority, we were chosen to be members. Some of us were invited to join immediately, some not for months or even years. Some of us even tried to refuse membership, but to no avail.

We were initiated in neurologist' s offices and NICU units, in obstetrician' s offices, in emergency rooms, and during ultrasounds. We were initiated with somber telephone calls, consultations, evaluations, blood tests, x-rays, MRI films, and heart surgeries.

All of us have one thing in common. One day things were fine. We were pregnant, or we had just given birth, or we were nursing our newborn, or we were playing with our toddler. Yes, one minute everything was fine. Then, whether it happened in an instant, as it often does, or over the course of a few weeks or months, our entire lives changed. Something wasn't quite right. Then we found ourselves mothers of children with special needs.

We are united, we sisters, regardless of the diversity of our children's special needs. Some of our children undergo chemotherapy. Some need respirators and ventilators. Some are unable to talk, some are unable to walk. Some eat through feeding tubes. Some live in a different world. We do not discriminate against those mothers whose children's needs are not as "special" as our child's. We have mutual respect and empathy for all the women who walk in our shoes.

We are knowledgeable. We have educated ourselves with whatever materials we could find. We know "the" specialists in the field. We know "the" neurologists, "the" hospitals, "the" wonder drugs, "the" treatments. We know "the" tests that need to be done, we know "the" degenerative and progressive diseases and we hold our breath while our children are tested for them. Without formal education, we could become board certified in neurology, endocrinology, and physiatry.

We have taken on our insurance companies and school boards to get what our children need to survive, and to flourish. We have prevailed upon the State to include augmentative communication devices in special education classes and mainstream schools for our children with cerebral palsy. We have labored to prove to insurance companies the medical necessity of gait trainers and other adaptive equipment for our children with spinal cord defects. We have sued municipalities to have our children properly classified so they could receive education and evaluation commensurate with their diagnosis.

We have learned to deal with the rest of the world, even if that means walking away from it. We have tolerated scorn in supermarkets during "tantrums" and gritted our teeth while discipline was advocated by the person behind us on line. We have tolerated inane suggestions and home remedies from well-meaning strangers. We have tolerated mothers of children without special needs complaining about chicken pox and ear infections. We have learned that many of our closest friends can't understand what it's like to be in our sorority, and don't even want to try.

We have our own personal copies of Emily Perl Kingsley's "A Trip To Holland" and Erma Bombeck's "The Special Mother." We keep them by our bedside and read and reread them during our toughest hours.

We have coped with holidays. We have found ways to get our physically handicapped children to the neighbors' front doors on Halloween, and we have found ways to help our deaf children form the words, "trick or treat." We have accepted that our children with sensory dysfunction will never wear velvet or lace on Christmas. We have painted a canvas of lights and a blazing yule log with our words for our blind children. We have pureed turkey on Thanksgiving. We have bought white chocolate bunnies for Easter. And all the while, we have tried to create a festive atmosphere for the rest of our family.

We've gotten up every morning since our journey began wondering how we'd make it through another day, and gone to bed every evening not sure how we did it.

We've mourned the fact that we never got to relax and sip red wine in Italy. We've mourned the fact that our trip to Holland has required much more baggage than we ever imagined when we first visited the travel agent. And we've mourned because we left for the airport without most of the things we needed for the trip.

But we, sisters, we keep the faith always. We never stop believing. Our love for our special children and our belief in all that they will achieve in life knows no bounds. We dream of them scoring touchdowns and extra points and home runs. We visualize them running sprints and marathons. We dream of them planting vegetable seeds, riding horses and chopping down trees. We hear their angelic voices singing Christmas carols. We see their palettes smeared with watercolors, and their fingers flying over ivory keys in a concert hall. We are amazed at the grace of their pirouettes. We never, never stop believing in all they will accomplish as they pass through this world.

But in the meantime, my sisters, the most important thing we do, is hold tight to their little hands as together, we special mothers and our special children, reach for the stars.

By Maureen K. Higgins

Sunday, April 27, 2008

More on Emma's latest diagnosis: microcephaly

When the neurosurgeon pronounced Emma "definitely microcephalic" on 19 March 2008, I couldn't understand why no one ever said that Emma was microcephalic before....she's constantly being poked and prodded and measured by medical personnel. Why wouldn't they see this earlier??

So I went back through Emma's old medical records, looking for measurements of her head, and then I measured her head myself (I couldn't remember the exact measurement from the neurosurgery appointment). I measured her HC at 17 3/8 inches, which is 44.1 cm. I plotted the data on a copy of the Microcephaly Head Circumference Chart that I downloaded from the Yahoo Microcephaly site. Here are the results:



The red dashed line is before zero months, because Emma was born about 5 weeks early. So all of the plotted "ages" are adjusted ages (subtract 5 weeks from her real age).

It's pretty clear that when she was very young (less than six months old), Emma's head circumference was within "normal" limits. I'm missing some measurements, but it looks as though she probably started to fall below the curve by the time she was approaching her first birthday. The last few measurements have been below the 2nd percentile (more than 2 standard deviations below the mean), and now she is approaching 3 SD below the mean.

So I guess that lets the doctors off the hook....I was getting a bit upset at the fact that no one had EVER used the word "microcephalic" when describing Emma before 19 March '08!

From what I've been able to gather from the Yahoo microcephaly group, Emma is exhibiting a fairly common pattern of head growth (or lack thereof) in that her head growth seemed normal at first, then slowed, and now seems to have (almost) stopped.

Of course, we're still trying to understand what this means for Emma....microcephaly seems to be different for different people, as far as the severity and the actual impact on one's life.

The Lord is still in control!

Recent milestones.....Emma in action

The video below was created 6 April...until very recently, Emma could not sit without support! Now she can sit for several minutes if we put her "in position" first.

video

It's very hard to catch Emma with a camera while she's counting, because every time I pull out my camera she sees it and stops. Below is a very brief (and very amateur video) of Emma counting on the evening of 21 March:

video

For some reason she used to leave out the number seven on a regular basis! :-) She does say "seven" most of the time now....in fact, lately she has been counting all the way up to twenty, but I haven't managed to get video of that yet.

Email correspondence with doctors moved

I've created a new set of links on the right-hand side that lead to the various emails I had posted earlier. They are rather long, and people shouldn't have to slog through those unless they REALLY want to! :-)

The emails that are currently available are those between me and Dr. Hall, and center around TAR Syndrome.

Wildfire in the hills less than three miles from our home

We are watching a huge fire on the hillside above our home tonight...we can see it clearly from our bedroom window and we smell the smoke, too. It's about 2 and 1/2 miles from us at this point, and it doesn't have much of a chance of reaching us, because there's a freeway, and a mall, and the Arboretum and hundreds of homes in between.

But it's not comfortable trying to go to sleep with a fire that close!

I found another blog that shows some pictures.....

Of course, Emma and Matthew are sleeping peacefully.

Monday, April 21, 2008

Emma's appointment with Dr. Paley

I've been meaning to post something about this for DAYS but have been very ill (I may have bronchitis evolving into pneumonia at this point). In any case, here is my attempt at reporting on our visit to Baltimore last week.

On April 17th, Emma was finally seen for the first time by Dr. Dror Paley, of the Rubin Institute for Advanced Orthopedics in Baltimore, MD. We live in Southern California, so just taking Emma to the appointment cost a significant amount of money. But we had heard that Dr. Paley is one of the best surgeons around for the type of surgery that Emma needs on her arms.

It took a little while to get into a room after we signed Emma in at the receptionist's desk, but we were told that Dr. Paley had 14 new patients scheduled for that day, so he was running behind. After a while a young man came in to talk to us about Emma....we went over my "cheat sheet" on her more serious issues and diagnoses that I give to all medical professionals.

Emma was then x-rayed and we waited in a different room. I powered my computer on and popped in a Teletubbies DVD for Emma....she was becoming very bored and fussy but Teletubbies always work! :-)

Finally Dr. Paley and 4 other people came into the room. He was very interested in everything about Emma. He seemed quite skeptical about the possible diagnosis of cerebral palsy....I certainly hope he's right that Emma DOESN'T have CP!! He was interested in her head; we talked about whether or not she might have craniosynostosis.

We discussed possible surgery for Emma's arms, and he confirmed to us that (so far) with more than two dozen ulnarizations (Dr. Paley's own procedure) performed to date, he has never seen a reversal occur. We were very favorably impressed, and ended up setting a date for surgery: 30 June 2009. Because of Emma's multiple diagnoses and her complicated neurological issues (global developmental delays, microcephaly, and possible spastic diplegic cerebral palsy), Dr. Paley wants to wait until she is 2 1/2 or 3 years old to do the surgery. I think perhaps he wants to have the cerebral palsy confirmed or ruled out prior to surgery.

Dr. Paley gave us two wonderful (and astonishing) news items about Emma:

1. As far as he can tell, she has no lower limb issues at this time...her knees are fine, which is wonderful! (frequently people with TAR Syndrome have knee or leg problems)

2. Emma has a partial radius bone in her left arm! (Astonishing! ) Even stranger.... this remnant is NOT near the elbow, but instead is in the wrist area. And it has its own growth plate! Dr. Paley says that this opens up other options for the surgery on her left arm that he doesn't have with the right arm, which is missing the radius entirely. So this is wonderful, too!

But I just don't understand why NO ONE has ever told us this before! How could they have missed it?? Maybe they saw it but didn't feel that it was important??!?

As far as I can tell, going by Dr. Judith Hall's online summary of TAR Syndrome, this means that Emma does NOT have TAR Syndrome! So what on Earth does she have??

From Dr. Hall:
"The consistent feature of TAR is absence of the radius but presence of the thumb. One hundred per cent (or as close as you can get to a hundred per cent) of individuals with TAR have bilateral absence of the radius. For practical purposes the diagnosis shouldn't be considered unless there is complete absence of the radius bilaterally. "

I've sent email Dr. Hall asking her this question directly, since she is the person who originally defined TAR Syndrome and gave it that name back in 1969. I'm very interested in what she will think about this!

In the meantime, I sent out a plea for information on the Yahoo TAR Support site asking if anyone else with a diagnosis of TAR Syndrome was born with a partial radius in one or both arms. So far there have been two replies in the affirmative.

I will post more in the near future...about what the surgery will do and our options for where we will stay during the immediate post-surgical period.

Wednesday, April 16, 2008

Here we are, in Baltimore

And I'm REALLY sick! I have a cold....or something. Anyway, we flew out today from Los Angeles to Baltimore to see Dr. Dror Paley, who is an eminent orthopedic surgeon who has worked on many of the people who post on the Yahoo TAR Support Group. All of his patients have wonderful things to say about him, and when I emailed him about his particular surgical technique (ulnarization) for straightening radial club hands, he told me that he has NEVER seen a single reversal! This is miraculous, because the other "tried-and-true" techniques, centralization and radialization, both have significant rates of reversal. In other words, the surgeries "come undone". But a repair done using his technique does not reverse itself....which is why we are flying more than 2,500 miles to see him.

I have to get ready for bed, but just wanted to post our whereabouts, and that Emma's appointment is tomorrow morning at 10:30am (Eastern Daylight Savings Time).

Good-night, all! :-)

Saturday, April 12, 2008

First post

This is not my first or only blog, and my other blogsites do contain a lot of information about my 22-month-old adopted daughter, Emma. But they are geared for friends and family and include lots of other things which just distract from Emma's story.

This site will be exclusively for and about Emma, and I intend to (ultimately) make it public. I have gleaned SO much at times from various blogs and websites written by other parents about their children with medical challenges, that I feel compelled to try to give back something to the community of parents of differently-abled children, if I can.

And I want to celebrate Emma, her beauty of face and of spirit, her strength, determination and sense of fun. I want to record how we, as her biological grandparents and adoptive parents, deal with the many complex issues that arise as her medical diagnoses have evolved and multiplied.

More soon....