Emma's World

Overdue updates about my sweet Emma

2011-02-25T20:27:00.000-08:00

Emma, Thanksgiving 2010

Sorry for neglecting this blog for SO long. My only excuse is that, being chronically ill now myself, I just don't have the energy to do all that I used to. But there are some important updates about Emma that must be posted.

First big thing to let you know about: Emma's post-surgery recovery continues, and she's doing well! This part might be particularly of interest to the parents of TAR Syndrome kids who are thinking about similar arm/wrist surgery for their little ones.

In order to avoid confusion, I should remind everyone at this point that Emma has names for her hands. The right hand is "Handy" and the left is "Iggy". She named them herself when she was very little, perhaps two years old....we have NO idea where she got the idea to give her hands names! She used to actually talk to them just as if they were people, scolding them, questioning them, playing with them.....it was really just too funny!

She doesn't talk to them so much anymore, but still refers to them by their names, so I will too. The hand she uses most is Iggy, so the doctor decided to operate first on the right side (Handy).

It's been five months now since the surgery, so she no longer wears a cast on her right arm. She has a splint to sleep in, and Kinesio Tape to wear at all times.

customized splint

Kenesio Tape

Handy before surgery

Before surgery, she could move Handy in nearly any direction, as if double-jointed or something. Now it seems that Handy is well-supported, not so floppy. Her right arm is not as straight as I thought it would be, but her wrist is definitely much firmer, more solid. This will hopefully help her in the future, although she is still not using Handy to pick things up.

Handy after surgery

Second important piece of info about Emma: as you know if you've been following her, Emma learned to walk just a few months ago. She's four years old, but has a form of cerebral palsy with ataxia due to her very rare congenital cerebellar malformation: rhombencephalosynapsis (RS). She has been diagnosed with an even rarer syndrome associated with RS, Gomez-Lopez-Hernandez Syndrome (aka cerebello-trigeminal-dermal dysplasia).

Because of her ataxia, Emma tends to fall down quite frequently. Recently she fell and banged the same spot on her forehead 3 times over a period of just a few days. She ended up with two black eyes, looking like a little raccoon. We realized at that point that we had to buy her some sort of protective equipment for her head, and I did an Internet search and found this helpful site: http://www.kidsafetyhats.com/

Here's Emma's new ProtectaCap+Plus, and she likes it! It has not made her sweat, thus far, during winter, and has protected her head during a number of falls. Her black eyes have finally faded, and she looks like her pretty self again!

Emma is doing better every day, and is constantly surprising us with her amazing vocabulary (some of her new words: stupendous and outstanding)! I hope to make another video soon.

Post-surgery report

2010-09-04T21:15:00.000-07:00

Emma is home from the hospital, with a hot pink cast and a straight right wrist!

Of course, none of us have slept much lately, because it's difficult for my sweet girl to get comfortable because of the pain in her wrist. Friday night she could only cat-nap for a few minutes at a time, and Daddy and I took turns holding her.

The fingers on her right hand are very swollen and she doesn't want to move them. But her doctor says that's perfectly normal and that we should massage them, gently move them for her, and try to keep her hand elevated above the elbow and above the heart.

I've rigged a sling for her with a cut-up dishcloth, since the sling sent home from the hospital has not been very successful....Emma wiggles out of it very quickly!

Needless to say, I'm so happy that she's home, and that the surgery is over! Now it's time to heal, then it will be time to learn how to use the hand again in it's new position.

More soon....and thanks for the prayers!

So many things going on!

2010-08-26T11:56:00.000-07:00

As you've seen in the previous post, Emma is starting to walk, and every day she walks a bit further. It is very gratifying to know that she is finding her way, developing these normal physical skills.....even with her multiple diagnoses and problems she never, ever gives up!

Below is another video of Emma walking, this one is quite a bit longer than the first, although still a bit shaky, since I was using my iPhone. She loves to look at herself in the mirror, and frequently walks over to stand in front of it, admiring herself. I wanted to capture that and suggested several times that she look at herself in the mirror....of course, since Mommy was suggesting the mirror as a destination, being Emma, she walked everywhere BUT there! :)

Another news item: Emma's first hand/arm surgery is scheduled for September 2nd....it will be on the right hand only, and will be performed by Drs. Lightdale and Stevanovic at CHLA.

I can't help but be nervous about it, although I'm sure that all will go well....positive thoughts and prayers are always welcome!

She WALKS!!

2010-08-09T14:15:00.000-07:00

Even one step is exciting.....and she knows it's an event! Check out the expression on her face!

Quick update from a very bad blogger

2010-07-27T14:30:00.000-07:00

I must apologize for not posting anything about Emma in such a long time....again, my health has interfered with my sincere intentions to keep this blog going. Also, we have just moved 200 miles from Southern California to it's beautiful Central Coast. We love our new home but I HATE MOVING! We are still unpacking, and it seems as though we will still be unpacking when Emma is 20 years old!

I do have exciting news though: Emma is getting her wheelchair VERY soon! We are so excited, because it will definitely give her more mobility and better access to tables, toys, educational things, not to mention that it's easier to play with other kids if you are (almost) at their eye level instead of crawling on the ground!

When her therapists put her into a trainer chair of a similar size and design to the one they had ordered for her, they tried to get her to show us how she can propel herself a short distance, but being Emma, she acted like she had no idea what they were talking about and had never seen a wheelchair before.

She can be a bit stubborn at times! :)

Emma's actual chair will be pink, of course, since pink is her signature color. We hope that she won't need to use it for long. She has actually taken a few steps on occasion in the past few weeks!!! Wah-hoo!!

"Emma-isms"

2010-03-28T14:01:00.000-07:00

I apologize for my long absence from this blog....I'm still dealing with several health issues of my own, and am in the middle of transitioning from working full-time to working part-time to applying for disability. :(

But I just had to write a quick post to capture a few of the phrases and sayings that Emma has come up with lately. She's just so incredibly funny sometimes!

Recent examples:

"It's not me changing, it's the weather."

"Daddy, you're disgusting!" (after feeling his face when he had neglected to shave)

Overheard while talking to her hands....(the right one is "Handy", and the left is "Iggy"):

"Hi Handy and Iggy! How are you today?"

After doing something she's not supposed to she has been known to scold Iggy, who is usually the one to blame.

In other news, Emma may FINALLY be getting her own wheelchair soon!! More soon! I promise!!

Got her!!

2009-09-08T19:09:00.000-07:00

Finally managed to catch the wild monkey (aka Emma) in action....getting up on her own with NO HELP AT ALL! I hope you enjoy the video! :)

Something WONDERFUL to report!!

2009-08-08T13:12:00.000-07:00

Emma is standing up!! With support, yes, but she has learned to get up from a prone position all the way to standing in her Pack-n-Play! By herself!!

Unfortunately, she has not yet allowed me to catch her on camera in the act. I did manage to get a short video of her a few days ago in the early stages of this when she still needed a little help to get all the way up. I shot her from the back so she didn't know the camera was there. Here it is....

Also, I caught her on camera standing up today, singing "This Little Light of Mine"....so incredibly cute!! Enjoy!

New Support Group for Rhombencephalosynapsis!!

2009-06-28T11:03:00.000-07:00

This is REALLY important news for those of us who have kids with RS, because it is quite a rare condition (well, at least it's been rarely diagnosed up to this point, which isn't really the same thing, but more on that later).

Two mothers of children with RS, Cassandra and Sarah, have put together a website, called Rooms of Jade, for any and all who may be interested in RS. There is a forum where we can go to discuss issues or ask questions, plus pages with links to personal blogs of kids with RS, information about RS and the associated syndrome, Gomez-Lopez-Hernandez Syndrome, etc.

If you have a child with RS, OR if you are an adult who has RS, I would encourage you to visit this site and register for the forum. Sarah is compiling a very informative spreadsheet with characteristics of each person with RS so that we can attempt to figure out which characteristics are shared by all or most, and which are not. This is very important because there is so little information out there right now. Doctors know very little about this condition and the implications for our children as they grow.

So please contact Sarah if your child has RS and help us all by sending her information about your child. We are not making this spreadsheet public, only the results are public.

Notes from the Micro Conference, Part 1

2009-06-28T10:37:00.000-07:00

OK, well I forgot my camera after all....oops!

I did have an old cell phone with a camera, but the pictures are not very good. I'll post a few anyway....

Below is a picture taken during Dr. Dobyn's talk. He discussed various brain anomalies and when malformations occur during pregnancy, as well as microcephaly in general. It was very interesting!

Emma expressed her opinion of the talk by going to sleep..... :)

Here is a picture of my friend Holly from Oklahoma holding Rachel....I tried to get a picture of Rachel's face but just as it snapped the pic she moved to hide behind mommy!

This was all on Saturday, which was the only day we made it to the conference. On Sunday (Father's Day) we had Holly's family over for dinner. Since Holly, Tony, plus their kids make 10 people, I made a huge batch of enchiladas, chicken with green sauce, beef with red sauce and plain cheese with red sauce. Everyone seemed to enjoy dinner!!

I will write more about the conference in a later post...there's quite a lot to tell about Emma's appointment with the doctors!

Well, we're off to the convention!!

2009-06-19T08:51:00.000-07:00

I'm excited....we're going to the Microcephaly Convention in Costa Mesa, CA and hopefully will get to meet Holly and her family in person!! Fortunately we live in Southern CA but not close to Costa Mesa....it's about an hour's drive away if the traffic is OK.

They are supposed to have things for the kids to do while the parents are in workshops....boy that would be great!

I'm taking my camera, so I plan to post more soon!

The girl is THREE YEARS OLD!!!

2009-06-17T22:03:00.000-07:00

Hard to believe, isn't it! Emma turned 3 on June 7th, one day after her Grandma June's birthday, and two days before her daddy's birthday.

My little doll....I took so many pictures of her at her birthday party, and they're all so adorable! I can't decide which ones to post, so I give up.....I'll post them all! :)

The beautiful handmade customized crown that Emma is wearing was purchased from BetterThanNormal.org, which was started by Melanie, Daniel's mother, in order to raise money for Daniel's alternative therapies (not covered by insurance). Isn't it amazingly cute?!?

Emma LOVES the idea of being a princess and wearing a crown....she's just in seventh heaven!

The crown wasn't the only hat Emma got for her birthday....her Grandma June bought her some lovely clothes and a beautiful hat to match:

Emma was fascinated with the DVDs she got for her birthday....some of her favorite shows, such as Dora the Explorer and Caillou....she was so excited!

Well, a good time was had by all; and the gluten-free vanilla cupcakes turned out quite well!

My Funny Girl

2009-06-06T10:30:00.000-07:00

There are times when Emma talks incessantly.....about almost anything. She's well known for repeating things that she's heard, even from TV commercials. Depending on where she is and who is present, the results can be hilarious!

California has a system of Regional Centers to coordinate and provide needed services to children with disabilities. Not just any disabilities though....for children over the age of three, they will only service kids who fall into the following categories: autism, Down's Syndrome, cerebral palsy, or mental retardation. So as a child approaches the age of three, they have to go through an evaluation process to determine if they will continue to be eligible.

Emma was recently evaluated by the Regional Center psychiatrist, Dr. Frey. He tried to get her to talk to him but she was being stubborn and wouldn't answer his questions. So I put her on the floor to play with toys and he asked me a series of questions about Emma's abilities.

At one point Dr. Frey asked me if Emma understood the concept of money. I started to answer but was interrupted by a sweet little voice from the floor, which said, "That's the money you could be saving with Geico!"

P.S. To those who don't live in America, this is from a very silly television commercial for a car insurance company.

Visit with Dr. Lightdale

2009-06-05T12:10:00.000-07:00

As you know if you've been reading this blog for a while, Emma will have surgery on her arms at some point to straighten and strengthen the wrists. Many people with TAR Syndrome undergo this type of surgery.

Last Monday we took Emma to see Dr. Lightdale, a hand/arm surgeon at CHLA. Dr. Arkader had recommended that we see her and talk to her about surgery options. Apparently Dr. Lightdale uses a modified version of the centralization technique, with an internal pin rather than an external fixator, but she feels that it's been quite successful for her patients. She presented her own philosophy and approach to surgery, and told us that she would be happy to do the surgery on Emma's arms if we wanted her to.

Dr. Lightdale also expressed willingness to act as a local support person if we still want to go with Dr. Paley for the arm surgery; in other words, she would be happy to adjust the fixators, etc., during Emma's recovery period.

Dr. Paley has been our first choice for a long time now, but lately we've been wondering if it will be economically feasible to use a doctor who is 3000 miles away! I thought we would be able to afford it, but that was before I developed so many health problems of my own and ended up in a wheelchair.

We are praying for guidance in this matter...we want the best for Emma in every area.

Dr. Paley's reply

2009-05-31T12:09:00.000-07:00

After Dr. Paley received Emma's x-rays via email, he responded very quickly:

I see the spike you are referring to. Do you feel it is painful to her? Based on what I see now there is a whole new option for treatment. This is a very good thing. I can join the lower ulna to the lower radius. This will give excellent wrist support and stability. I can of course remove the spike at the same time.

As regards timing, if the spike is at risk of coming through the skin or if it is painful we can operate sooner. Otherwise there is no urgency. Nothing bad has happened.

He added in another email that this is usually not painful, and I have to admit that Emma is not crying and is playing normally. This is comforting, although it still gives me the heebie-jeebies to imagine a bone actually moving around in her arm.

Emma has another appointment in the CHLA ortho clinic on June 1st, and I have a few more questions for them based on the x-rays and Dr. Paley's email.

Latest x-rays

2009-05-27T20:51:00.000-07:00

Here are the most recent x-rays of Emma's left arm. The small partial radius may be seen in all three images, but I think the second one shows the situation best, as it was the only image taken from the side of the arm. It's quite clear that the "pointy" end of partial radius is tilted up towards the surface of the forearm, and the "bump" corresponds exactly with the position of that end of the bone.

Dr. Arkader agreed with me that the bump is indeed caused by the radius bone. He seemed to think "case closed" ..... after all, it's not a tumor, nor anything bad, it's simply her own malformed radius bone.

Maybe I'm wrong, but I don't think it's occurred to anyone but me that a BONE moving from one place to another within your body would HURT! Shouldn't something be done about it?

I've taken her to see three different doctors in the past two weeks, and everyone says that she doesn't seem to be in pain, so don't worry about it. But I can't let this go....it's my Emma!

I've emailed Dr. Dror Paley and have sent him these images....I really would like to know what he thinks.

Please pray (and contribute!) to the cause

2009-05-26T19:17:00.000-07:00

A dear friend of mine, Holly, who lives in Oklahoma, is trying to raise money to attend the microcephaly conference out here in California in June. Her youngest child, Rachel, has microcephaly and a brain malformation similar to Emma's, and they really want to make it to this conference for many many reasons.

Please visit Holly's blog for more details. I just wanted to post about their plight and appeal to the people who visit Emma to donate to the trip fund if possible. Even if you can't donate, please pray. Their family is struggling with several different health issues right now, and she has EIGHT children! :)

Emma's arm, plus GOOD NEWS on the weight issue!

2009-05-26T16:55:00.000-07:00

A few days ago Emma was seen in the CHLA orthopedics clinic by Dr. Arkader; they took more xrays and were able to show me exactly what had happened to her left arm that caused the bump.

I really wanted to get copies of the xrays to post but the CD burner in the Radiology Dept is broken and they don't know when it will be fixed. So I will try to describe what I saw.

Just as I suspected, the small remnant of a radius bone has actually moved from where it was! Originally it was located near the wrist with one end close to the head of the ulna (the end with the growth plate). Now it has moved about 2 inches down the arm from where it was, and is tilted at a -30 degree angle, causing the pointy end (the end without the growth plate) to protrude oddly and make a bump on her forearm.

It must have taken considerable force to move that bone, and it MUST be uncomfortable! I don't know how the bone was moved, but the only scenario that makes sense is some sort of traumatic external event.

Emma will be seen by another ortho doctor in the same clinic, a Dr. Lightdale, who is a hand surgeon, on June 1st.

On a happier topic, we received wonderful news today: Emma has gained weight!! She weighs approximately 10.25 kg or 22.6 lbs! Her pediatrician was very happy, and says that we do NOT need to consider a g-tube at this time! Hooray!!!!

More on "the bump"

2009-05-12T14:57:00.000-07:00

We took Emma to see the triage doctor at the CHLA pediatric clinic yesterday. The doc felt the bump on her arm and said something like, "yep, there's a bump there."

So we went for x-rays. We waited for a LONG time in the radiology waiting room. Eventually they called Emma and took pictures of her arm.

Finally we got to go back to the clinic. We waited for a LONGER time. The doctor popped out a couple of times to let us know we weren't forgotten, then finally told us to go eat lunch and come back in an hour.

I guess the x-rays were read by someone while we were at lunch, because right after we came back the doctor came out and told us that nothing much was showing up in the images except for Emma's usual left arm structure (they had old x-rays from 2007 to compare these with).

We were told if we were "still concerned" about the bump, we could call orthopedics and make an appointment. Well, YES, I am still concerned!! The darn thing is about half an inch across, and protrudes enough to be seen quite clearly. And Emma says it hurts!!

You bet I'm still concerned!!

I guess I'm a little mad because it seems as though the doctor WASN'T concerned any longer.

Anyway...we're trying to get Emma in to be seen in the orthopedic clinic.

More soon....

Something strange....plus another video

2009-05-10T20:42:00.000-07:00

Video first: as you know, Emma is talking a lot lately. I managed to capture more of her thoughts during a conversation on Mother's Day; I hope you enjoy it as much as I did! Emma frequently makes me laugh, she's so funny (usually unintentionally):

Now for the "strange" thing that we've just noticed in the past few days (first saw it Friday afternoon)....a very solid bump on her left forearm which has never been there before. I have NO clue what it could be. The only thought I've had is that somehow the partial radius she has in her left forearm has moved....but that's probably not possible!

Emma doesn't seem to be in much pain, although she's not using her left arm quite as much as usual. When I ask her about the bump, and whether or not it hurts, she says, "I want to get it out".

What could THAT mean?

In the picture below, I've used a red arrow to indicate the position of the "bump"; you can see it in profile against the dark blue background of the high chair. It's about half way between her wrist and her elbow on the upper surface of her forearm.

At one point she did admit to some pain, but not today. We've made an appointment for her to be seen at the pediatric clinic at CHLA tomorrow (Monday) 11 May at 8:40am. I will have to cancel or cut my class short in order to get her there in time (I teach this semester from 7:00 - 8:40am MWF).

Please remember Emma in prayer.

Latest News about Emma....

2009-04-26T19:08:00.000-07:00

Emma is growing and developing....slowly, but steadily. As you can see in the recent video, she has quite a vocabulary now and is able to use her walker to get around and even play outside on nice days! This is a dream come true, for her and for us; how we've longed for a way to let her play like other kids!!

She is happiest in that Rifton walker....that's where she has the most freedom.

As to her medical issues, the most recent events include:

1. A firm diagnosis of Infantile cerebral palsy, non-specific.

2. Consensus among several of her doctors on the diagnosis of Gomez-Lopez-Hernandez Syndrome (yes, Emma is one of the rare individuals with this syndrome).

3. Emma will soon be scheduled for surgery to remove a small nodule on her throat. Her ENT doctor, Dr. Koempel of CHLA, says it could be one of a couple of different things, and it needs to be removed. She had an ultrasound last week to confirm that she has a thyroid separate from the nodule, which she does. We see Dr. Koempel again on Wednesday and may be able to schedule the surgery at that time.

Matthew will be seen by Dr. Koempel as well, as he has developed a "bump" on his throat too. Please keep both of the kids in prayer for these issues.

4. We were just informed a few days ago that Emma will continue as a client of Regional Center after the age of three. This is wonderful news....we were afraid that she might "fall through the cracks" because her physical issues are unusual and don't fit many of the standard patterns. It's hard to pigeon-hole Emma!! But the diagnosis of CP apparently helped.

Unfortunately, we will not have the same Service Coordinator that we have had these last few years....we will miss Van very much!

5. The last time Emma saw her pediatrician, Dr. Roberts, there was mention made of the possibility of a gastric tube. We hope it will not be necessary, but she is not gaining weight, even though she is growing lengthwise. We'll find out soon if she has managed to gain any weight in the past few months.

I will post more info soon! And more pictures!!

Matt is home

2009-04-19T14:06:00.001-07:00

Little Matthew Patrick passed away this morning. Please keep his adoptive family in your prayers.

Update on little Matthew Patrick

2009-04-18T18:02:00.000-07:00

Several weeks ago I posted a prayer request for baby Matthew Patrick, a baby born with a very serious (terminal) medical condition called hydranencephaly. According to his blogsite, apparently little Matt is already nearing the end of his very brief life here, and I would like to ask you to pray again for him and also for his adoptive family members. This is a very, very difficult time for them....I can't imagine their grief as they prepare to say the final goodbye to their little one.

Melanie's Birthday Party Giveaway!

2009-04-18T16:26:00.000-07:00

Melanie, of "Better Than Normal" (mommy to that amazing boy, Daniel), is having a contest....the prize is a Better Than Normal birthday party kit, which includes adorable, hand-made, felt crowns for the birthday child and 5 of their friends. Please visit her website for the rules of the contest and to see pictures of the crowns....they really are great! Any kid would love them!

Video of Emma using her Rifton walker

2009-04-10T13:17:00.000-07:00

This is a short, very amateurish video from a few days ago when we had a nice sunny day (today it's overcast and the high is 59 degrees Fahrenheit with a 50% chance of rain). Unfortunately I was breathing directly into the microphone so it sounds like Darth Vader shot the video...sorry about that! In addition, the battery died unexpectedly so the video ends quite abruptly.

OK....now that I've explained all of the oddities and issues with the video, enjoy Emma and Matthew playing in the backyard on a warm Southern California day! Emma talks quite a bit in this one.

Cerebral Palsy Awareness Day!!

2009-03-20T09:46:00.000-07:00

Today is the official Cerebral Palsy Awareness Day...show your support and help disseminate knowledge! Wear something green if possible (picture below is DH wearing the only green T-Shirt he could find, which was his Official Volunteer Tee from the Tour de Cure to Beat Diabetes, LOL!).

If you have a blog, you can visit Life of Logan and participate in the prize giveaway!

Important info about Cerebral Palsy:

- The average prevalence of cerebral palsy is about 1 in 278 children. This first report of the prevalence and characteristics of CP, the most common cause of motor disability in childhood, are from Georgia, Alabama and Wisconsin. Can you even begin to imagine the numbers if there was a national surveillance?

- Cerebral palsy is one of the most common developmental disabilities in the US, affecting at least 800,000 children, adolescents and adults in America. Cerebral palsy is NOT a disease nor should it be considered one. It is not even a simple or single disorder but rather a broad range of disorders that disrupt a person’s ability to move, sit, stand, walk, talk and use their hands. The severity of the movement disorder and the type of movement difficulties can vary greatly. Some patients have only mild difficulties with balance, walking and fine motor skills while patients at the other extreme are completely trapped in their own bodies, fighting rigid limbs, and unable to speak or swallow.

- There is currently no cure for cerebral palsy and in most cases, it is not preventable. In over 50 years, treatments for CP have not progressed much at all. In fact, today, there remains little consensus among medical professionals regarding what causes CP or how best to treat it. Why do 800,000 or more Americans have CP, and yet we don’t know much more about what causes it or how to prevent it than we did a half century ago?

Resources: Centers for Disease Control (CDC) and Reaching for the Stars (RFTS)

Emma has her Rifton walker!!

2009-02-22T10:15:00.001-08:00

We did buy a used Rifton walker a while back but it turned out to be much too big for her. Well, she'll grow into it eventually. This walker is on loan from California Children's Services.

Here's her first attempt at using the walker at home....she's only allowed to be in it 10 - 15 minutes at a time, but she can use it several times per day. It's adjusted so that it discourages her from sitting down on the support beneath her, which makes her tire very quickly.

As you can see, she LOVES it! She was so mad last night when we put her in it for the last time before bed and then took her out after only 15 minutes. She yelled "I wanna go in the walker!!" over and over until we reminded her that she was going to wake up Matthew if she didn't stop it.

I'm so glad that she finally has a walker that fits her, not just that baby walker which is way too small!!

Emma napping with her baby doll

2009-02-18T09:06:00.001-08:00

Update on Emma

2009-02-18T08:46:00.000-08:00

We took Emma to see her pediatrician yesterday. She's 81 cm long now, but only 9.25 kg. (That means she's 32 inches long and weighs 20.4 lbs)

The doctor was disappointed in her weight....she's not gaining weight, even though she's growing in length, so her BMI is actually decreasing. We talked about ways to increase her calorie intake (adding small amounts of oil to her baby food, giving her high fat foods like avocados and fritos). I told the doctor about the gluten free diet, that Emma has only been on it for 6 weeks but her eczema has cleared up completely! We had hoped that the gf diet would help her gain weight, but it hasn't been long enough yet.

The doctor did talk about the possibility of a g-tube, which scares me. I'm praying that Emma will start eating better....that a g-tube will not be necessary. She's very picky about food, about textures, and she's never been a good eater. This is apparently normal for kids with Emma's medical problems, though. One little boy that I know about who has GLHS and a missing radius bone in his right arm has SO many of Emma's characteristics. And he has a g-tube.

But I have to trust in the Lord, that He is in control. Emma is doing well in so many ways, and I'm grateful for that!

Prayer request for Baby Matthew

2009-02-04T21:54:00.000-08:00

There is a beautiful baby boy named Matthew who is only a few weeks old. He was diagnosed soon after birth with a very serious medical condition called hydranencephaly. This condition is terminal and the doctors at first gave his guardians the prognosis that he would likely only live a few months.

But there has recently been some indication that Matthew may be treatable, and that in the best case scenario, he might even be able to have a normal life after surgery. This momentary ray of hope has now faded a bit, because the results of a cat scan were inconclusive. You can see Matthew and read more at his blogsite, Gift of God.

Please pray for the Lord to work in Matthew's life, and touch him with His healing power. Pray for God's will in his life. Pray that the Lord will anoint his doctors with wisdom. Pray for the precious Christian family who is caring for him as if he were their very own.

Gomez-Lopez-Hernandez Syndrome...maybe not so rare?

2009-02-02T21:03:00.000-08:00

I've read many of the recent medical journal articles about GLHS, and as of February 2008 there were apparently only 19 people world-wide who had been diagnosed with this syndrome.

And Emma is almost certainly #20. So here I've been thinking that she is SO incredibly unusual in that she has both TAR Syndrome and GLHS.

Then I joined the Yahoo Group for parents of children with cerebellar issues.

I discovered within a few weeks that there are at least 2 other children whose parents/guardians are members of that group who also have GLHS. I also received an email recently from the mother of another Emma who probably has GLHS.

But the really interesting part is that, out of these 4 children that I know about (my Emma, the other Emma, plus the two kids through the Yahoo group), TWO of them have both GLHS and at least one missing radius bone (my Emma is one of them, obviously).

So I'm convinced that (1) there is a fundamental genetic connection between TAR Syndrome/radial ray defects and GLHS that has not yet been noticed by the medical research community, and (2) GLHS may not be nearly as rare as previously thought.

P.S. to Results from Germany

2009-01-13T14:36:00.000-08:00

Also, if you're interested in more background on this, please read the emails from me to Dr. Judith Hall and from Dr. Hall to me (see links on right hand side).

Results from Germany

2009-01-10T21:32:00.000-08:00

In order to understand what this post is about, you will probably have to read an earlier post about TAR Syndrome, and whether or not Emma actually has it, plus some background material. Please read this post about Emma's first visit with Dr. Paley, and the following medical article (well, skim it at least, the medical jargon may be hard to wade through!).

To summarize, the medical article is by Dr. Eva Klopocki and other members of her research group in Germany; they say that they studied 30 people with TAR Syndrome and ALL of them have a certain microdeletion on the 1q21.1 chromosome. This microdeletion is apparently necessary for TARS, but not sufficient, because some of the relatives of those with TARS also had the same deletion but did not exhibit the signs of TAR Syndrome. So there must be at least one more genetic modifier that is present in those with full-blown TAR Syndrome (which they haven't found yet).

So, because of the fact that Emma has the diagnosis of TAR Syndrome, yet has a partial radius on the left side, there was some question as to whether or not she actually has TARS. The original criteria established by Dr. Judith Hall for a diagnosis of TARS called for complete bilateral absence of the radii. So the German group was very interested in Emma, and wanted to test her for the 1q21.1 microdeletion. On 1 December 2008 Emma had blood drawn at CHLA and sent off to Germany for DNA testing.

I just received the following email from Emma's pediatrician at CHLA:

This week I rec'd the report from Dr Klopocki's office confirming a microdeletion on chromosome 1q21.1 which is found in individuals with TAR syndrome. I would like to send you the original report if you don't mind giving me your current address again-not in the computer yet (?)

So it would appear that Emma does have TAR Syndrome! But I will email Dr. Judith Hall (the doctor who gave the Syndrome its name in 1969) and ask her if this is the proper inference to draw from these results.

Another VERY interesting connection....which just goes to show you that it really is a small world! Eva Klopocki was the fifth author on one of the medical papers on Gomez-Lopez-Hernandez Syndrome that I have posted on the "Medical Articles" link on the right hand side of this blog (schell-apacik07_GLH.pdf). I emailed one of her colleagues, Dr. Stefan Mundlos, with the information that Emma may have GLH Syndrome as well as TAR Syndrome, but he did not respond. Perhaps I should email Dr. Klopocki?

Putting the kids on the gluten free diet

2009-01-04T10:23:00.000-08:00

Since our adopted babies, Matthew and Emma, are really my biological grandchildren, they have a chance of having problems with gluten because I have celiac disease and their cousin Carly (my other granddaughter) has celiac disease. But I just found out recently that the kids biological father, Marcus, may have gluten issues himself, and that his brother had MS and celiac disease! The babies have the double whammy (celiacs on both sides of the family)!

Emma has the HLA DQ2 gene, so she definitely has a chance of developing issues with gluten. Both she and Matthew have skin problems like eczema and keratosis pilaris, which can be associated with celiac disease.

So I've decided that the WHOLE FAMILY goes gluten free as of NOW! We went to Whole Foods and bought gluten free crackers and chicken nuggets, and since I've now started making gluten free bread I think we're all set!

Belatedly posting Christmas pics!

2009-01-02T09:40:00.000-08:00

Christmas breakfast! Pamela's Gluten Free Pancakes!

Matthew LOVES the Christmas tree....especially the ornament he made with his picture on it!

Here's Emma with her new baby doll! She's so excited about being a "mommy"! She loves holding the doll and pretending to give it a "baba" (bottle).

Matthew and Daddy looking at one of the new puzzles....

Matthew grinning from ear to ear by his new tricycle!!

Emma surrounded by presents! She seems a bit overwhelmed by it all....

More news about Dr. Paley's move

2008-12-21T16:06:00.000-08:00

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.

Updates

2008-12-19T17:55:00.001-08:00

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!

2008-12-19T17:44:00.000-08:00

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.

Sleeping babies

2008-12-16T21:38:00.000-08:00

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!

Evidence of trigeminal anesthesia?

2008-11-30T15:14:00.000-08:00

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!

2008-11-30T09:20:00.001-08:00

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.

One in a trillion

2008-11-22T18:39:00.001-08:00

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!

A couple of adorable Trick-or-Treaters!!

2008-11-01T15:02:00.000-07:00

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!

Medical papers posted

2008-10-30T18:13:00.000-07:00

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.

What is "normal" anyway?

2008-10-22T15:20:00.000-07:00

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.

Syndromes and more syndromes.....

2008-10-18T23:56:00.000-07:00

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:

rhombencephalosynapsis
partial scalp alopecia (distinctive bald spots on the sides and bald strip in the back)
trigeminal anesthesia (no sensation or diminished sensations in the face)
craniosynostosis or asymmetric skull (turricephaly)
Hypertelorism (wide-set eyes)
Midface hypoplasia (flattened mid-facial region)
small nose
smooth philtrum
thin lips
high arched palate
low-set, rotated ears
strabismus
intellectual impairment
ataxia
seizures
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

2008-10-18T23:55:00.000-07:00

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.

Emma's long-awaited MRI results

2008-10-07T19:25:00.000-07:00

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.

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

2008-08-10T19:32:00.000-07:00

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!

Emma is TWO YEARS OLD!!!

2008-06-15T22:46:00.000-07:00

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!".

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!

Wonderful news!

2008-05-31T22:31:00.000-07:00

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!)

:-)

Mother's Day

2008-05-11T09:48:00.000-07:00

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

More on Emma's latest diagnosis: microcephaly

2008-04-27T09:14:00.000-07:00

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

2008-04-27T09:02:00.000-07:00

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.

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:

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

2008-04-27T08:58:00.000-07:00

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

2008-04-27T00:27:00.000-07:00

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.

Emma's appointment with Dr. Paley

2008-04-21T19:07:00.000-07:00

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.

Here we are, in Baltimore

2008-04-16T19:30:00.000-07:00

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! :-)

First post

2008-04-12T20:47:00.001-07:00

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....