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)"

Bring in the perinatologist

As you know I am pregnant with number three. I had hoped for a "normal" pregnancy but thus far it has been anything but. Because of Abby's diagnosis (along with my obstetrical history) the OB insisted that I see a high risk specialist (perinatologist). I saw one with the girls and that is who helped us begin our journey towards a diagnosis of rhombencephalosynapsis.

I agreed, knowing it was an inevitability. Of course one of the first points of discussion was Abby's RS. Because almost no doctor, let alone a peri, has heard of RS I find myself educating yet another medical practitioner. I give my speech outlining the structure and symptoms of RS. The doctor is amazed and asks ME about the heritability. I outline that no siblings have been identified with RS that this being an inherited trait seems unlikely. She believes me, says in passing that she'll look it up (I nod knowing how little info she'll find) and we move on.

I just found it striking how much of our life involves this bizarre and rare diagnosis. Most of the time the word rhombencephalosynapsis doesn't cross my mind. It isn't something that is a major part of our daily life. At least it doesn't seem that way. But isn't it? The fact that I spend so much of my day making special considerations for Abby. Every time that Grace hops our of the van but Abby has to be helped. Every meal that Grace feeds herself but Abby, even with her weighted vest and utensils, still struggles with. Every doctors appointment that it comes up in and I am forced to give my "RS lecture" yet again.

It is a part of us. It is a part of everything we do. It makes us different but it makes us special. It makes us realize that we can't take one darn thing for granted. It reminds us how lucky we are to have her. It shows us that life can always be worse.

So we pray that our new baby will not have RS. We pray that the docs are right and it is not likely inherited. Who knows that the outcome would be so good next time. But the reality is we also know that if it is in our future we're ready.

Before

I remember before the girls were born having these fleeting thoughts about what was going to happen if I "pushed the issue" of my infertility. Was infertility God's way of telling us that we were not destined to have children? Were we meant to be childless? Would pushing forward with fertility treatments cause us to be "punished" later on? I always knew it wasn't rational thinking but you have a lot of time to think while sitting in specialists offices for hours on end.

Now I am the mother of a child with special needs (technically two). Every once in a while I find my brain flashing the question 'did I cause this'? Again, flawed logic... I know. Sometimes we have those days. She has a big fall. She spend the morning flapping and spinning. She gets caught "in a loop" and can't move from a topic. She parrots my own speech back to me instead of having a conversation. A BAD DAY. Those are the days when I have the moments of doubt. Did I do this to myself and her? Is this some form of punishment?

I know the answer. I know I was destined to be her Mom. I know that the lessons I will learn from her will far outweigh the bad days. I know that. In the meantime, in the middle of a day from hell, it's hard not to ask.

What will your future hold

I know that a few of my readers are people either expecting a baby with RS (or similar structural abnormalities) or have an infant with RS. I have loved hearing from you how our experiences have helped, in some small way, with your own experiences. I have been thinking lately about all of the moments we received potentially bad news and how little information we had. I searched and searched and found so little more than four years ago.

I thought I might share some of the things we were told about what Abby's life would be like. I will also say a couple of words about how starkly different many of these things are compared with our reality.

*She might not make it through a delivery - Obviously not the case.

*If she lived she might spend a long period of time in the NICU - Only 13 days!

*She might need a feeding tube - She only required an NG tube for about 7 days until she coordinated her suck, swallow, breath reflex.

*She would never be able to walk - HA! I can top that... the kid runs, skips, jumps, climbs, rides a bike and dances like a wild woman. It might look a little mechanical and she may fall a lot but the girls CAN WALK.

*She would never be able to talk - Double HA! The kids has NEVER met a thought she didn't share. She talked early and has never stopped.

*She would likely have mental retardation - At three years and nine months she is beginning to read, spells her name (as well as mine, Grace's, Brian's and her grandparents), counts to thirty, does basic addition and subtraction and tests off the charts for vocabulary. SHe is being tested next year to see just how high her IQ is. They are predicting she is well in the superior range.

*She would not be able to coordinate the two sides of her body - Because of her corpus callosum involvement she is actually able to use the two sides of her body independently AT THE SAME TIME. It is amazing to watch her do something with one side of her body and something else with the other. SO COOL!

*She would be unusually small - She is very tiny for her age. At almost four she is still only around 28 pounds. That being said she doesn't not look unusually small... just petite.

*She will have unusual facial features - Look at the picture of her at the top of the page and you tell me she looks "unusual". She may have a few of the features (like the sharp teeth, some bald patches, broad forehead, weird shaped toes and a large rib cage) but she looks normal.

*She will have unusual behaviors - She does flap and head roll. She also spins when she gets stressed, tired or excited. BUT... it isn't a big deal. If someone told me that my child would flap their arms it would have upset me terribly when I was pregnant. Now is it such a lot of nothing. I don't even notice it.

*She will be hyperactive - She is but so many kids are in modern day. There is so much you can control with diet and medication. This is a road we have only just started down but I know it is something we can handle.

*She might have psychological issues - We are now dealing with her obsessions, anxiety and panic attacks. In time it will likely require medication but medicine can do so much to help with these issues.


So hopefully you see how wrong they can be. So much of what the doctors think they know is either completely wrong or just a worst case scenario. It must all be taken with a grain of salt. Each child is so different and the brain is so plastic. The sky is truly the limit... it is just your job as a parent to push them as high as you can.

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.

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

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.