Advice

I started writing this blog because when Abby was first diagnosed I was lost. We were told the rarity of this diagnosis and basically told 'good luck' finding any information let alone other families living with Rhombencephalosysnapsis. So there I was. With this baby who I didn't know if she would ever walk or talk, her twin sister and a diagnosis I couldn't even pronounce. The coming months and years would show me just how wrong the doctors were (and continue to be). First there are other families out there. I have found so many wonderful families living with RS just like us. We share stories and we hold each others hands through appointments. We share things that our doctors would never know. We are a family. They were also wrong about my girl. She walks! She talks! She sasses and makes a mess of her room and eats before prayers and gives me attitude. When she was a baby I would have paid any amount of money to know that the little helpless baby with crossed eyes and who flapped and shook her head would give me attitude and complain about her outfits.

So when I get posts like these: pseudopabloOctober 9, 2013 at 12:25 AM

Hi, we have an 8 month old son who was diagnosed with this when I was carrying him. When he was born he didn't seem to be showing any symptoms but now he's older things don't seem to add up with him, he has started head shaking its been going on for months and consultants, specialists, GPs don't know what it is ? He also has bouts of screaming, we were hoping for some advice from someone who lives rhombencephalosynapsis just as we do. Thank you
Natalie

I want to cry. (Pseudopablo... please don't feel uncomfortable. We've all had this moment of feeling along and isolated.) When I think back on how isolated, afraid, anxious, sad, frustrated and confused I was I just want to cry for my old self. I want to throw my arms around myself and parents new to the diagnosis and tell them IT WILL BE OKAY. IT WILL BE HARD BUT IT WILL BE SOOOOOOO MUCH BETTER THAN YOU THINK IT WILLL. You are going to be shocked how capable you and your baby are. 

Our kiddo's are oddballs. They flap their arms, spin in circles, cross their eyes, roll their heads, scream and cry for no reason and so many other things. Eventually we become pretty accustomed to these things. It doesn't seem like that's possible but it is. 

So here is my advice to you and any newly diagnosed RS family:

1. E-mail me personally so I can hook you up with the RS groups and you can connect with the other parents (my e-mail is in my profile). 

2. Educate yourself. I realized early on that in any room I was going to be the foremost expert on RS. Even when in the presence of doctors. Learn to be the expert and be verbal. 

3. Your child is going to amaze you. If you are willing to go the extra mile you are going to be stunned. 

4. Get a team in place now. The most important players on our team at that age were Early Intervention (OT and PT), Neurology (and keep going until you find one you like, Social work (ours was through EI and she was awesome), ophthalmology (our kids have a lot of eye issues), and a good parents of special needs kids group. 

I am here to answer any questions you have and if I had your e-mail I definitely would contact you directly. Just know that you are not alone!!!

Posted by Kristen Fescoe

Alopecia?

One of the more odd hallmarks of Rhombencephalosynapsis is alopecia. Whether male of female, most people with RS have some degree of baldness, typically patches.

I was asked by researchers conducting a study on RS to send pictures of her patches and her ears (kids with RS typically have low set forward slanted ears also) and I thought I would share.

When she was first diagnosed I remember thinking "how awful... on top of everything else my kid is going to have bald patches".

Thankfully there is a lot you can do with a good head of hair. :D

And for those of you following us for a while, yes she is going from blond to red. It definitely suits her firecracker personality. 

Posted by Kristen Fescoe

Rare Disease Awareness Day

We have all seen the myriad of ads for various awareness days and ribbons and fundraisers for diseases. But what happens when no one has heard of the disease you or your child is diagnosed with? 

Abby has something called Rhombencephalosynpasis. This (and I am oversimplifying a little) means that where her cerebellum should be two separate lobes it is instead fused together with no vermis. She also has hydrocephalus, enlarged 3rd and 4th ventricles and partial agenesis (fusing) of her corpus callosum. 

When I was pregnant with her the doctors told us that she would be very unlikely to survive pregnancy and birth and that if she did the chances of her walking, talking or thinking about be minimal. We decided to take our chances and have some hope. I'm glad we did. 

Despite the doctors being SO WRONG she still struggles. With everything from balance, to fine motor skills to her social interactions with peers... she struggles. 

When your child has a diagnosis that people can understand they are (sometimes) sympathetic. People are willing to raise money and wear ribbons and do walk a thons. When they cannot pronounce the condition your child has you get a lot of blank stares and stupid questions. That part is hard. There is no where to send a check so that future generations of children with RS can have it a little better. There is very little research being conducted. VERY few doctors have a clue what it is. 

So today is Rare Disease Day. It's a day for families like ours to display our ribbons. I'm not personally trying to raise money, just a little awareness. (Although you can donate to the Rare Disease Cause HERE.) My daughter doesn't have cancer or downs syndrome or cystic fibrosis but she deserves as much awareness as any "known" disorder. She deserves to have people try to understand what she deals with. 

Today is her day. 

What to expect when your expecting....

Written by Heidi:

"I know Kris has written in the past about their experience during their pregnancy. Within the support group on Facebook it feels that we all share such a similar story of our RS pregnancies and mine is no different than Kris's. As I first read hers I thought "did someone steal my story"! As we were going thru it we felt so alone! We were told by numerous and highly educated doctors that basically we were alone. There was essentially no literature to educate ourselves with. The one doctor who we thought would give us answers from handed us our son back and  told us he had never heard of it and if anyone told us they did they were lying to us. This was when Ethan was just 1 1/2 years old.

But let me back up: at our 5 month prenatal check up we took our 6 year old soon-to-be-big-brother with us to find out if he was going to have a little brother or sister. Little did we know we would be leaving with heart breaking news that his little brother had cerebellum issues, along with spina bifda occulta enlarged ventricles  and we were introduced to large words that would become a second language to us. The next weeks were a blur of appointments with specialists that knew nothing, had little advice with answers of 'we don't know' and 'we suggest that you terminate'. We felt like they were suggesting this because they didn't want to be held accountable for the unknown. We scheduled the next appointment and moved on trusting that God gave us this baby for a reason and we would do what we needed to do.

The next scheduled ultrasound left the specialist yet again scratching their heads as Ethan's ventricles had decreased slightly as they told us this doesn't happen. The pregnancy and his birth continued on this trek with highs and lows and lots of scratching of heads.

I got to thinking about this as I was messaging another new RS mom the other night. She was with her new baby and they are going through another major procedure so soon after being born. It seems that nothing goes easy for these RS kids. But somehow they trek thru it. How alone and isolated we parents can feel and have felt during it as the medical staff hasn't been able to offer much in this in the past. But I believe that won't be the case in the future. If I could of had another mom message me who truly went thru some of the same rare things that I did back then. Wow!. I can remember when I first read Kris's words. I got goose bumps! Finally I had a connection with someone! There was a family out there that got it! And thru face book I  have found many families that get it!

So if you are expecting and you have found this blog because you and your little one have been given the news with some pretty big words....and all those pregnancy books are now out the door come find us facebook. You can message me Heidi Swartz (Larson)"

An RS twin

When Abby was first diagnosed with Rhombencephalosynapsis the doctors made sure to inform us how incredibly rare it was. They explained that it happens at a certain gestational period but the specific cause is unknown. I have always thought the fact that Abby is a twin and her twin does not have RS is very interesting.

Life with twins is interesting. Life with one twin who is atypical and one who is more typical (although Grace her fair share of developmental issues unrelated to RS...) is even more interesting. We have to make sure we meet the needs of each girl since they are twins. We also have to make sure that the more "needy" twin doesn't get more than her fair share of attention. It has always been a balancing act.

The amazing thing is that Grace has turned into such a caring and nurturing child. She won't let anyone pick on her sister. She will make sure she is included, even though Abby is socially very awkward. She cares so deeply for her sister it amazes me to watch.

Recently we took the kids to the park that has a fair amount of accomodative play equipment. We love this park since the girls can both do their thing without us hovering. The girls were playing when Abby fell off of a climbing ladder. The floor is padded so it wasn't catastrophic but it still hurt. Grace immediately came running to Abby apologizing for "not remembering that Abby has terrible balance"... From the mouth of a five year old.

In that moment it felt so bittersweet. The sweet in that she cares SO MUCH for her sister. The bitter in that she felt responsible. Like if she had slowed down her play than Abby wouldn't have fallen. I don't believe for one second that Abby hold Grace back. They both move at their own pace. That doesn't mean Grace doesn't slow down sometimes to move at her sisters pace. I just can't help but wonder how this will effect them and their development later on. I think being twins makes them stronger. It helps them grow and learn and keep pace. They challenge each other in wonderful ways.

Some day Grace will be writing her own blog post on being an RS twin. Until that time I pray that she will tell us all how enriched her life is because of her sisters diagnosis.

Dear 28 year-old Me

Dear 28 year-old Me,

It's me, You in 5 years. I recently got to thinking about the past five years and what advice I would give you. So I thought I would sit down and write it all out. The things I want you to know. The things you should do different than I did. Maybe it will help someone, somehow know that the future is going to be okay.

You are now pregnant. After years of trying, miscarriage, infertility, IVF and doctors you are pregnant with twins. Soon you will meet a doctor who will give you the worst news of your life. He's going to tell you there is something wrong with your daughter and he's going to tell you it doesn't look good. He's going to go on to talk and you will hear little more than snippets as the world starts collapsing in on you. Later you will wish that the word salad of 'aqueductal stenosis', 'ventriculomegaly', 'hydrocephalus', 'cerebral malformation' were more than meaningless jumble. You will wish you could have paid attention in those moments of pure hell. Here's what I want you to do... take a deep breath. Tell the doctor to slow down and give you a minute. Most importantly don't panic. Know that your future will be tough (as will your daughters) but it won't be as grim as the picture they paint.

She will be born and you will be lulled into a false sense of security. Things will seem fine.
You will soon feel blindsided when your little girl can't hold up her head or roll over. You will spend days wondering, worrying, panicking about what the future holds. Instead of panicking start asking questions RIGHT AWAY. Don't let the docs settle for an unknown brain malformation. PUSH HARD. Find Dr. B sooner. Don't let it go until she is almost two before you get good answers.

And even after they give you the big diagnosis; the mouthful that scares the hell out of you... RHOMBENCEPHALOSYNAPSIS... don't let yourself panic. When they tell you that little is known and her prognosis is unknown trust your gut. You will know that your little girl is going to be okay. Don't let that little voice in that asks "will she be normal". Ignore the voice. Tell it to shut up. Tell it that you know a hell of a lot more than it does. You are the Mom.

In that same vain don't let the doctors act like they are the experts. At first they will all act like they know more about RS than you. It takes you a long while to realize that most of them have never heard of it, have never seen it and never will again. YOU ARE THE EXPERT. You must educate THEM. Don't feel shy about giving them that education.

Life is not going to be easy. Your little girl is going to spend the first few years of her life in therapy, at doctors offices, in surgery, having tests and working her butt off to do "normal" things. You are going to be right alongside her toughing it out. Just know that for every single second you put into her you will get that all back double in the future. You will look back and know that you did every single thing you could possibly do for her. Don't second guess yourself when you splurge for therapy equipment or bring her to another doctor that your family questions is necessary. YOU KNOW BEST!

I think the most important thing I should tell you is to enjoy her. Before long those days where you worried about mechanical (and fixable) things like crawling and walking will turn into worries like will she fit in at school, will she make friends, will she hate the fact that she is "different". These things are not in your control. And I am guessing that 39 year old me will probably write the 34 year old me a letter at some point telling me not to worry about those things. Soon it will be driving and dating!

She's going to be okay. You're little girl is going to amazing and inspire you. When people ask if you believe in miracles you will smile and say yes with no hesitation. She is something very, very special. Don't miss one moment of that journey!

Good luck,

Me

Posted by Kristen Fescoe

Experts Everywhere?

Since Abby was born we have done our best to surround ourselves with the best people to treat her. The best doctors, the best therapists, the best teachers, etc. Nothing but the best. In all that time we really never came across an expert in dealing with Rhombencephalosynapsis. The smartest of our "tribe" realized that the closest to an expert on RS was the parent. As a parent of a child with a rare disorder you spend hours and hours and hours (or at least I do... OCD much? ;D) doing research, reading the limited literature and connecting with anyone who knows anything about RS.

One of the things that has driven me the most insane are the people who act as if they are some sort of expert on a rare disorder. As if reading two studies about the diagnosis make on an expert...

We have come across way too many of these supposed "experts". They are usually quick to share their (ill wanted) "advice". They often berate you for decisions you have made. They feel as if there are a number of things you should or should not be doing.

Last week I went for an ultrasound of this baby and I came across a rare mix of the two. A doctor who entered our room telling us that he had "the answer" to what was "wrong with Abby". He announced that she probably has Dandy Walker Syndrome. I smiled, assured him that this diagnosis had been ruled out by her neurogeneticist and tried to move on. I think he felt a little foolish so he began to back track but asserting that the only true expert in the room was me.

Thankfully he was wise enough not to push the issue (like so many have done). It just gets tiring. Until the day comes when someone actually has light to shed on RS I wish people would just leave the parents be the "experts".

SO many others

When we first got Abby's diagnosis we were led to believe that there were maybe 9 or 10 other children out there with rhombencephalosynapsis. Over the past year or two we have come to find out the numbers are significantly higher. There are so many elements of this that amazes me. It amazes me that we live in a day and age where we can find people we would have NEVER found before the invent of the internet. It amazes me that doctors can be so wrong about so many things. It amazes me that kids with RS can be so similar but also so different. It's amazing.

It's still a very rare diagnosis. Very little is really known about the prognosis of the disorder. Who knows if we will ever know why or how it happens. At this point I don't really feel like I need to know why. We consider ourselves lucky to have her.

Right now I am thankfully that I have found other RS families and other RS kids. Makes Abby feel like what she deals with others are also dealing with.

Fear

I recently "met" parent's (online) who had a baby girl this year and she was born with Rhombencephalosynapsis. Before their daughter was born her parents found my blog. We have been in contact over the past several months and I have been able to answer a few of the probably millions of questions that swim through their heads.

An e-mail from this sweet little girls Dad got me thinking. Thinking about all of the fear and stress and questions when your child receives a rare (or not so rare) diagnosis. The unknown can scare you so bad you want to crawl into a hole. I remember when Abby was tiny and my whole existence for a few months was swirling thoughts of therapists and surgery and doctors and tests and prognosis. It consumed me. I had no idea what my tomorrows were going to hold.

In one minute I felt like we could handle it. We'd get informed and do the research and get her the best treatment available. But the next minute I would be sobbing myself into a puddle on the floor. There was so much fear. So many moments of sheer panic. I can remember holding her in my arms, staring into her sweet face and just wondering if she would have any normalcy at all. It scared the hell out of me. I feel so ill equipped. SO NOT READY. Who the hell was I to try to handle something so huge.

Thankfully the past four years have taught us so much. Time has both matured us and softened us. We know that there is nothing we can't tackle. We know that we can't worry about every little thing. We also know that we can't spend every moment thinking about all the what if's and what will be's. We've better at waiting and seeing. We still have our moments. We still feel scared and shaky and even desperate sometimes. But most of the time we feel blessed.

The little girl who scared us so many times has turned out to be a perfect little girl.

Report Cards

The girls got their "report cards" from school last week. In preschool the report card is more of a progress report. The cool thing is that you can sit and compare where they are now and where they are when they started school in September. The progress is amazing! Abby still has a few 6's (which are skills she should have at her age but are not yet emerging) but by and large she is making so much progress. So many of her 6's have turned into 3's and even 2's (obviously lower numbers equal better mastery of a skill).

Sometimes I look back at the period in time when she couldn't roll over and she was months and months past the typical time period for it. I remember thinking "will she ever walk", "will she ever be able to do normal things", "will people look at her because the way she moves is so unusual". Then she rolled over. Then she crawled. Then she walked with the walker. Then SHE WALKED! Now she runs and jumps and skips and rides a bike and a scooter. It is incredible. We sure have come a long way!

Looking back

Recently I was going through some old bookmarks in my computer. I stumbled across and old board that I used to frequent for women pregnant with babies who have ventriculomegalies. It got me to thinking about those early days. The days right after we found out there was "something wrong" with Abby. It was so scary and so painful and SO stressful. I barely slept in those first couple of weeks. I opted instead to spend hours and hours researching possible causes, treatments, prognosis and outcome. I e-mailed anyone I could think to ask questions. I blogged. It was a dark time in our life.

Now I sit here the mother of two precocious four year olds and most of the time we are like any other family with typical kids. It is almost hard to remember life in those days with all of the unknown. I don't think I could have or would have predicted that life would turn out this way. That we would spend hours and hours and hours in therapy but that Abby would turn out so perfectly.

It makes me wish there was more I could do to tell our story. To show that even in those darkest hours there is hope. There is always potential. That the information the doctor presents is usually the worst case scenario NOT the likely outcome. It's why I blog and write and share whenever I can. I just wish there was more we could do to help those who are going through what we once were.

Facing Realities

From the first moment when you are told that your child has something wrong your world is rocked. You become quickly accustomed to the fact that you will now face a whole new world of realities. You can throw away the books. You can ignore people's advice. You can stop asking your friends if their child did the odd thing you child has taken to doing. Reality is something new and different.

First you let go of the idea that your new child will be "perfect". I think every parent has the realization at some point that their child isn't perfect (and that no child is). They just probably don't do it sitting in a doctors office. Then you have to mourn the loss of what you envisioned. This takes time. And just because you mourn it once doesn't mean you are done. Oh no! This mourning will come in waves. You will think you have it all figured out and you can handle it. Then the next giant waves crashes and you start over again.

Then you will, on a daily basis, have to become adaptable and flexible. Each day will bring it's own new version of "reality". If you don't learn to adapt quickly you will fall on your face.

So on the day that you finally wake up and realize that what you thought would be "reality" is gone then you can learn to stand on your own two feet and face the new reality. At least until the next wave comes...

What it meant

Once we finally had the diagnosis of RS we felt a huge weight lift off of us. We still have no idea of what the future will hold for Abby we can make some educated guesses. We knew then that therapy was going to be a big part of her life. We got serious about her PT and OT and started doing what we needed to adapt our home and our life to meet her needs. The days of thinking that this was something she would "get over" were gone. And that was okay. We didn't need false hope... we needed reality.

From the time Abby was four months old she has received physical therapy. Since she was one she has had OT. These are her realities. She has used a walker, a helmet, braces, and so many other types of adaptive and therapy equipment I feel like we have everything in the therapy catalogs. :D It is just a part of our world. If someone would have asked me on that horrible day when I was 17 weeks pregnant if I could see myself with a child with braces, a helmet, a walker, and all of these special needs AND be happy I probably would have hit them. I still remember on that day trying to look into the future and see myself as the parent of a special needs child. I didn't want any part of it. I wasn't that person. That wasn't my life.

Well guess what... I am a part of it, I am that person and that is our life. What I didn't realize is that it was never about ME. It was always about my daughters. Doing what is best for them. And because of this I have learned several things.

1. Life is never as hard as it seems
2. You can do anything... even the things that seem the most repulsive
3. Having special needs truly makes a child and their family SPECIAL
4. The challenges that life throws at you make you a better person
5. Never think that experiences are for nothing. Everything really does happen for a reason

So now we tackle every day with a sense of purpose. We are here to make our little piece of the world better. Abby manages to touch people around her on a daily basis. No one can hear her story of overcoming such grim odds without being in awe of her and her spirit. That is the reason. She is disabled and she is inspiring. Those things can happen at the same time. Life is just amazing in that way. Being my daughters Mom is what makes me special. I am thankful for that every single day.

Finding Out

After a great deal of waiting we finally made an appointment with Dr. Bonnemann at the neurogenetics clinic at CHOP. He is highly esteemed in his field and people come from around the world to meet with him. We spent hours meeting with genetic counselors, therapists (OT, PT, Speech), nurse practitioners, students, and on and on (quite the dog and pony show). After a few hours we finally met the esteemed doctor we had heard so much about. He had a very thick accent making it a little hard to understand hi but was a cordial man. He talked more to his students and fellow doctors than he did to me for the first 45 minutes. I was just nervous. Would this man have answers or would it be more of the same?

After he looked over every inch of Abby's body noticing every weird thing that I had ever noticed but had one doctor or another brush off as nothing. Everything from her crooked little toes to her odd shaped sternum... he noted everything. He informed me that he had some ideas about what was going on. He wanted a thorough genetic panel, blood work and to run a 3 Tesla MRI (higher powered) to get a really good look at her brain. I hated the idea of another sedation (at this point she had had a CT scan, a 1.5 Tesla MRI and double eye muscle surgery) but I wanted answers BADLY.

We had the MRI done quickly after the appointment and she did fine. Within a week I was on the phone with Dr. B. I sat down with my pen and paper and started writing. He confirmed the issues that the previous CT and MRI had found. But he found something much more substantial than expected. He explained that she had a very, very rare brain formation known as rhombencephalosynapsis. He had to tell it to me several times and eventually spell it. He explained that because of it's extreme rarity formulating a prognosis would be difficult. He promised to send me some literature so I could read about the diagnosis.

As we did research and read what Dr. B sent we started to digest it all. We had some idea of a why. I honestly thought we would never have a why. We could start to get a glimpse into her future by making contacts with people who have RS. It gave us hope. It gave us a sense of direction. While life is never going to be easy for Abby it is not going to keep her down. We would not let it.

Finding out (Part IV)

Abby spent a couple of weeks in the NICU with an NG tube. She didn't eat. She didn't gain weight. She was jaundiced. She couldn't regulate her body temperature. It was infinitely frustrating. They told us in the NICU that she was functioning like that of a 32 weeker... not a 37 weeker. The did an ultrasound of her head and said that things "looked good". That was it... nothing else... just "looked good". We naively believed them.

Once we got her home we settled into our new normal. Things progressed along but we quickly realized that our "normal, healthy" baby might not be just that. She missed every milestone. As we watched Grace start to smile, roll over, hold up her head, etc., Abby was still the same as the day she was born. With my background in psychology I knew that she should be doing more than what she was doing.

Our pediatrician sent us to a specialist for physical therapy and we began weekly PT sessions at the hospital. Her progress was minimal but at least we were doing something now. One day our PT noticed that Abby head size had spiked. She regularly took measurements and noticed that she had gone from the 50th percentile to the 90th in a very short frame of time. This is very scary news. I immediately called the Fetal Diagnosis Team at CHOP and they put me in contact with a wonderful neurosurgeon. She called me personally and asked me a million questions. She told me to calmly pack a small bag of things that she would need and meet her at the hospital. I was both freaked out and completely relieved that this woman would wait (on a Friday afternoon at 3:30) to see her.

I brought Grace to my Moms and headed to the hospital. Dr. Bianco was waiting for me and quickly looked Abby over. She said that if she had a large increase in fluid she could be at risk for damage to her brain and even death. After a thorough evaluation she felt confident that nothing was emergent and scheduled a follow up visit with both her and neurology after we had a CT scan the next week.

We found out from that scan that nothing about Abby's brain "looked fine". She had macrocephaly with mild hydrocephalus. (A shunt was a possibility at this point.) She has posterior corpus callosum hypoplasia/dysplasia. She had ventriculomegalies in the 3rd AND 4th ventricles. She also had strange formation in her cerebellum. We were scared. We had no idea what this meant. What her prognosis was. What had caused all of this. We now had more questions than answers.

We started therapy with Early Intervention at this point and set up an appointment (for six months away) with a neurogeneticist. So again, we waited.

How we found out - Part III

Despite our perinatologist feeling very sure that the likely outcome for Baby A was grim I decided to make an appointment at the Fetal Diagnosis Center at CHOP. It took a few weeks but they were wonderful. Their reassurances that they could answer questions and help us figure out what to do gave us such peace. They coordinated and scheduled everything for me so I showed up very early in the morning for an all day appointment. First was a special MRI (at PENN) that would check the babies thoroughly. Then I had the highest level ultrasound available and it took TWO HOURS. Two hours for a woman 22 weeks pregnant with twins is a long time to lie on your back... let me tell you. ;D We then had an echo of their hearts, a full physical to check my vitals, blood work and a genetic screen.

After about 8 hours of testing we met with the Fetal Diagnosis team. My Mom, Brian and I entered a conference room that seated about 5 or 6 doctors (I can't really remember). I don;t think I have ever felt more anxiety in my whole life. I simultaneously wanted to run out as fast as my pregnant body could carry me but I also wanted to jump in my chair and scream WHAT THE HELL IS WRONG WITH MY BABY? I opted to fake calm and sit smiling while all of these people introduced themselves. I only remember one of their names, Dr. Johnson, the head of the team. I am not sure that I even listened to anyone else's name.

Dr. Johnson was a soft spoken man with grey hair and a lovely smile. He had a way of putting me at ease when he spoke. He began by telling us that Baby B (Grace) indeed had only one kidney. They talked about the girls positions, confirmed they were both girls and then we got into the thick of it. He told us that she had a ventriculomegaly (enlarged ventricles), some poorly formed tissue in her corpus callosum and cerebellum and fluid in her frontal lobe. None of it was surprising. What he could tell us was that the ventriculomegaly was measuring better than it had just three weeks ago. An amazing sign. I smiled so big my face hurt. There was a chance this would correct itself and then we would only have these other minor structural issues to contend with. This was amazing news.

For the remainder of my pregnancy things went pretty good. I had some health issues related to carrying twins but nothing awful. On June 20th in 2007 the girls were born at 37 weeks. Abby was tiny at 4 pounds and 14 ounces (compared with her twin who was 5 pounds 14 ounces). Because her brain issues seemed to be improving we were prepping for healthy babies. Much to our dismay Abby was way smaller than expected and did not act like a 37 weeker should. I guess this was the foreshadowing of what was to come.

How we found out - Part II

That ultrasound was one of the most excruciating experiences of my life. We waited forever to be taken back. The technician didn't say a word. When the doctor came in he was silent. We came to know him as Dr. Gloom and Doom. Once the doctor had taken all of the measurements he needed he spoke. No introduction... he just started showing us Grace's "normal" brain and then moving the wand to Abby and showing us where her brain was NOT normal. I hate that word NORMAL. I remember how horrible it felt bouncing around in my brain. I think at that point I shut down. Her brain was a mess. Nothing looked right. It drooped, it sagged, it was too small in some places and too big in others. My heart broke in a million little pieces. I thought why not a heart defect they could correct? Why not something fixable? Why the brain? Why???

After the u/s was over Dr. Gloom and Doom took us into his office. This exchange I will never forget. He motioned to two chairs for us to sit in. He sat behind his desk, but his feet on the table, his arms behind his head and drew a long breath. Almost a full minute passed before he spoke. I was afraid to breath. He finally said "this is the worst meeting I ever have to have with parents... no, the second worst" (what he meant was the first worst was telling parents their child was dead). He explained that her malformation would make her birth difficult. She might not make it to delivery. He explained that if she did make it her long term outcome was grim. She would likely never walk, talk or have much function. He asked about termination and thank God Brian spoke before I could and said "that is not an option". They doctor and Brian talked for a while but I don't remember it.

I barely remember the tear filled car ride home. We went right to my Moms house. We tried to explain but it was so hard. We fought so hard to get pregnant and stay pregnant and now THIS. Are you kidding? I don't want this. I don't want a life filled with either the memory of a dead child OR wheelchairs, tubes and respirators. I couldn't handle that. How in the hell could this be happening???

More to come tomorrow...

How we found out

When you think of the best and worst days of your life I am sure that many images and feelings jump to the surface. I have many best days (thank God there are more bests than worsts). But I also have a few worst days. There are two days that will stand out in my mind forever. The first is the day that I found out that my first pregnancy (that took several years and so many doctors appointments and procedures I lost count to achieve) ended in miscarriage. The second is the day of my 17 week ultrasound of the girls.

We went for "the big ultrasound"... the one where you find out what you are having. It was early, we knew that, but it was possible. They were going to screen for other things but we might know if we were having boys, girls, one of each... The excitement for us and the rest of the family was infectious. I had this amazing feeling that we were going to find out.

We (Brian and I) arrived early for out appointment. We went to our regular OB's office. They called us back and the fun began. There were our two perfect little babies... swimming, bouncing, waving. It was amazing. They were so beautiful. The ultrasound technician was busy taking measurements while we held back tears, completely in awe. She told us that she knew what we were having and asked if we wanted to know. We both immediately told her yes. She told us "you are having two of the same gender" and I thought for sure it was two boys. When she said it was two girls I was over the moon (not that we didn't want boys but the thought of two little twin girls was so exciting).

And that was the end of the elation. Suddenly time slowed down. The ultrasound technician, although I cannot remember her name I will never forget her face, began to look worried. She was taking the same measurements over and over and over. She wouldn't speak. She wouldn't answer questions. She left the room making an excuse that she was having trouble getting a measurement and the doctor would just want to be sure.

The rest of that day is a blur. The doctor came in and took a million measurements. She explained that something in Baby A's brain did not look "typical". They wanted us to go to the hospital for a higher level ultrasound immediately. For me immediately meant right that very second. For them it meant three days later. So we waited and waited and waited.

Ok, so I am going to go all Charles Dickens on you (did you know that DIckins essentially invented the idea of the "cliffhanger" with the publication of the Pickwick Paper) but the rest of the story will be coming shortly.

Answering a question

I got a question from Joann from my last blog post so I figured I would answer it here. Abby was NOT diagnosed with RS in the womb. She actually didn't get her diagnosis until she was almost two. At 17 weeks gestation I had an ultrasound and it was a horrible experience. The u/s tech found something wrong in Abby's brain and she panicked. She got quiet, searched and searched then stopped to get a doctor. Way to scare the hell out of your patient. The doc came in and took a look and explained to us that "something" looked off in part of her brain. They wanted us to go to the hospital for another u/s which of course left us with days of waiting.

When we finally went for that u/s the perinatologist did the scan, didn't say much during and took us into his office after. When we sat down his exact words were "this is the worst meeting I ever have to have with parents... of wait, second worst", meaning at least our child was not dead. He explained that Abby had a ventriculomegaly, aqueductal stenosis, fluid in the frontal lobe and an oddly shaped cerebellum. At that point we had no idea the cerebellum was fused.

Over the next year she had a CT and an MRI (only a 1.5 tesla) and found those same issues. Again, no mention of the fused cerebellum. It wasn't until we decided to wait the 6 months to get an appointment with our neurogeneticist that the 3 tesla MRI was ordered. So this diagnosis is only a few months old for our family. We always knew something was wrong we just didn't know what.

Her List of Symptoms

I am sure that there are other Moms (and Dads) out there whose kid has RS. Maybe they know it and maybe they don't. I thought it would be helpful to create a list of everything that seems notable for Abs so someone searching will have a basis of comparison.

Misc. Characteristics:
- Is a twin
- Was a triplet but Baby C was lost in utero
- Ventriculomegaly and Aqueductal Stenosis was found via ultrasound at 17 weeks gestation
- RS was missed on first MRI (only 1.5 tesla)
- RS diagnosed at 23 months when neurogeneticist ran 3 tesla MRI
- Terrible sleeper. Trouble falling and stay asleep. Needs a lot of time to unwind before sleep.
- Hearty appetite (despite being so tiny).

Physical Characteristics:
- Small Stature
- Failure to Thrive
- Less than 2nd percentile for weight and height
- Enlarged Head
- Protruding Forehead / Plagiocephaly
- Small lower body
- Poor muscle tone
- Enlarged Rib Cage
- Feet turn slightly inward
- Thin hair
- Thin nails
- Very small feet for her body size
- Head in 90th percentile

Neuro Findings:
- Enlarged 3rd and 4th ventricles
- Fused Cerebellum
- Rhombencephalosynapsis
- Plagiocephaly
- Hydrocephalus / Increased fluid in frontal lobe
- Posterior Corpus Callosum Hypoplasia/Dysplasia

Medical Characteristics:
- Allergic to milk & eggs
- Strabismus requiring double eye muscle surgery
- Esotropia
- Asthma
- Seasonal Allergies
- RSV at 9 months

Fine Motor Characteristics:
- In OT since 20 months
- Flapping and twisting of hands
- Twisting of feet
- HypoReactive Sensory Intergration Disorder
- Oral Motor Sensory needs
- Requires a great deal of sensory input

Gross Motor Characteristics:
- In PT since 4 months old
- Severely delayed milestones (rolled at 10 months, crawled at 14 months, stood at 18 months, walked at 20 months)
- Ataxia
- Hypotonia
- Balance issues
- Poor Muscle Tone
- Poor Balance
- Walks with an unusual gate
- Has not mastered kicking, steps, throwing while standing at 2 years of age

Speech Characteristics:
- On target for her age with speech
- Requires no ST
- Has wide array of language

Personality Characteristics:
- Easygoing
- Playful
- VERY silly
- Can be temperamental
- Very stubborn
- Loves quiet activities like watching TV or coloring.
- Tends to observe activity before she joins in

I may add to this list as things come to mind.