Got her!!

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!!

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!!

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

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!!

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!!!

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

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

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

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

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

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!

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"

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

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....

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

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

Update on little Matthew Patrick

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!

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

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!!

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!!

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

Update on Emma

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

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?

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

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

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

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!

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....