Saturday, October 30, 2010

Go State!

In the hopes that PSU pulls out a win today against the Michigan Wolverines, here's a recent photo of Bill and I at the Penn State Homecoming game three weeks ago.

And I wouldn't be a good wife if I didn't also say, "Go Cocks!!"  Hopefully the South Carolina Gamecocks will also pull out a win today and all will be happy in our household.

Friday, October 29, 2010


Today was an excellent day!! First of all it's Friday.  There's no better day than Friday in my opinion.  Yes, we still have to go to work, but the whole weekend is ahead of you.  And I don't know why, but I seem to be more productive on Fridays.  Anyway, the real reason today was an excellent day was all because of Dr. Kanwal Kher at Children's National Hospital in DC.  Since we found out about Stephen's kidney's, he has been the very first doctor to actually give us any hope and offer treatment options.  During our meeting today with Dr. Kher, we talked about how critical the first few hours will be in the NICU for lung development but that if we make it past those first few hours, we'll immediately start dialysis and then go from there as things progress.  The worst case scenario in terms of the kidneys is that they will be so enlarged that they'll have to be removed within the first few days of life to allow for extra room for the lungs to develop.  But that's ok.  He can still survive on dialysis with no kidneys until he gets big and strong enough for a transplant.  And then hopefully Bill or I or another family member will be a good match and Stephen can get a kidney from one of us.  Apparently they have much more success with grafting the donor kidney when it comes from a family member versus a cadaver. And I know Bill is really hoping that he'll be the match!!

We understand and know that being on a respirator coupled with the dialysis is not easy and brings with the possibility of infections and other complications (not to mention our lives will totally change), but Dr. Kher has dealt with this many times and gave us numerous examples of cases where children had their kidneys removed or went on dialysis all coupled with the lung issues, and have gone on to receive new kidneys and are now healthy young adults. 

What was even better today was that Dr. Kher actually recommended that Stephen's kidney care be passed off to Dr. Fildes at Fairfax Hospital, who can provide the same level of care as he would and then at least we can deliver, recover and be at Fairfax Hospital with him the whole time.  They don't actually deliver babies at Children's National, so Stephen would have to be stabilized first and then transferred via air lift downtown to Children's.  So not only was he a totally compassionate doctor to our plight, but recommended what he thought was going to be best for all three of us!!!

I called our contact today at Children's National, Lisa Cantu-Parks, who has been amazing and set us up with Dr. Kher, and told her I would tell anyone and everyone I could about how incredible Children's was to us.  Especially after the day we had yesterday, I can never thank her and Dr. Kher enough for their compassionate support.  So...if anyone finds themselves with some extra cash and is looking for a good place to donate...might I suggest Children's National Hospital? :)  haha, just kidding.  But not really. :)

And also just wanted to say how grateful Bill and I are for the outpouring of love and support we've received from everyone over the past week and a half.  We have truly appreciated every single email, phone call and connection that you have sent us.  Words really can not express how grateful we are to you all.  I know we've missed responding to some emails and calls, but we really do appreciate each and every one of them.  Your thoughts and prayers are what is keeping us going each day.   And I know they will continue to keep us going through the long and tough road ahead.

Much love,

p.s. Happy Halloween and hope everyone has a wonderful weekend!

Thursday, October 28, 2010

Bad Day in Baltimore

Today was our "second opinion" appointment with another MFM up at University of Maryland Medical Center (UMMC) in Baltimore.  We had heard great things about UMMC from our first MFM and from another ARPKD Mom whose son was born, treated, and had a transplant at UMMC.  So going into our appointment today we were pretty hopeful that Dr. Harman would have some hopeful news to offer us.  Maybe there would be a procedure we could try in utero, some additional tests, or maybe he would suggest that a team of doctors at UMMC would take us on and we would ultimately deliver at UMMC.  We just didn't know.

Unfortunately, we weren't prepared for the news we would get from Dr. all.  I mean you would think we would be prepared for the worst, since we've already heard the worst, right?  Oh so wrong.  Adding more medical information to what we had already been told made the news and the probabilities against us even worse.  Basically today went something like this:

- high level sonogram with radiologist; this was a pretty long one and I had some trouble during this sonogram.  She had me pretty much flat on my back today and I kept getting lightheaded.  Plus she had some trouble getting a good look at Stephen's heart, so it took a bit longer.
 - wait for Dr. Harman and wait and wait and wait some more.  Our appointment was at 10:15, we didn't see Dr. Harman until around 12:25pm.  What is up with that?!?!  Why do doctor's all seem to schedule appointments for a certain time, but then you don't see them until 30 minutes after your appointment time?!  Ugh.  So frustrating. But I digress. 

The consultant with the doctor began with a discussion about the lungs and the news was really bad.  The lungs are measured (with some complicated medical measurement) starting at 1.0.  At 1.0 there is no chance of survival.  At 1.6, the baby has a pretty good chance of survival as long as the level of care is really good.  But the baby still faces A LOT of challenges.  Stephen's measurement was 1.2.  And this won't change.  As he grows, his organs like the liver and heart, limbs, and head will continue to grow, but his lungs won't. Steroid injections, which are often given to mother's who might go into pre-term labor, won't help either because Stephen's lungs are actually already mature.  They just won't get big enough.  There's not enough room in his chest/rib cage cavity for them to grow because he's so compressed in my uterus without any fluid.  In technical terms, steroids help Type II lung cells develop and we have plenty of Type II cells.  There just isn't any room for them to grow.  And without functioning lungs, the kidneys then become a secondary issue.  We didn't even really get into the whole kidney thing.

The only somewhat positive thing that we gained from the appointment is that there is a blood test we could do in utero which would tell us 100% if the kidney defect is a chromosomal defect such as trisomy 13 or 18.  Meaning that Stephen could have a third copy of chromosome, instead of two, that caused the kidney defect.  The blood sample is taken through the placenta from the umbilical cord.  Dr. Harman has done thousands of these tests and has never had one adverse effect, so there are (really) no risks involved.  If it turns out that Stephen has a third chromosome, then there is nothing we can do.  No amount of medicine, no doctor, or miracle would fix him.  Instead we would comfort our little guy when he is born as best we know how and help him peacefully enter Heaven.

But if the test comes back negative, than it isn't a chromosomal defect, and we would continue searching for doctors who think that modern medicine could help our little boy.  Dr. Harman was obviously not that guy.  He doesn't want to take on our case and doesn't think there are any babies, ever, who have been in our exact situation and survived.  But we don't agree.  No one has been able to say they know 100% that our baby won't survive.  Maybe his chance is 1%, but that's still a chance.  If the blood test proves differently, than that's a different story.  But until then, we're continuing our search. 

So all in all, today was a pretty shitty day.

Hopefully tomorrow will be better with the pediatric nephrologist.  But I fear every appointment will be like the last.  Let's hope I'm wrong.

Wednesday, October 27, 2010

Genetics aka Really Confusing Stuff

Monday morning we met with the pediatric geneticist to try to determine how Stephen got ARPKD and then ultimately what the probability that future children might be affected by ARPKD.  Most of what the doctor told us has kind of left my brain at this point, but I know it will be here job to decipher the genetic test results and give us a "final answer" when the time comes.  To be completely honest, the only thing I really remember is talking about the blood test we need to have done, going through our family health history, and then leaving pretty deflated.  She did say though that are now procedures where the mutated gene can be isolated in both my egg and Bill's sperm and than can be re-planted to try to avoid future children from being affected by ARPKD.  Sort of like in vitro fertilization.  But that is like a million steps ahead of where we are right now, so I've kind of let that fly over my head for right now too.

But here's some information I found helpful in trying to better understand how ARPKD could have been passed on to Stephen and some more background information on the disease for those who are interested.

ARPKD (Autosomal Recessive Polycystic Kidney Disease) occurs in approximately 1 in 20,000 newborns and children. 30% to 50% of infants with ARPKD die at birth or shortly after (this is mainly due to under developed lungs). Children who survive the newborn stage face many challenges including high blood pressure, lung issues and kidney/liver failure. Approximately one third of children with ARPKD will need dialysis or kidney transplantation before the age of 10.
A child inherits ARPKD when both parents have a copy of the disease gene. Since the parents each have only one copy of the disease gene, they do not have the disease and are referred to as "carriers". Two parents who carry the ARPKD gene have a 25 percent chance that each child will inherit the disease.

 Here is an excerpt from the most frequently asked questions about ARPKD:
(The full list can be found at

What is ARPKD?

Autosomal recessive polycystic kidney disease, ARPKD, is a rare genetic disorder, occurring in approximately 1 in 20,000 individuals. It affects boys and girls equally and often causes significant mortality in the first month of life.

If the child survives the newborn period, the chances of survival are good. For these children, approximately one-third will need dialysis or transplantation by the age of 10.

What causes ARPKD?

In recessive disorders such as ARPKD, the child must inherit a copy of the disease gene from each parent in order to be affected. Since the parents each have only one copy of the disease gene, they do not have the disease and are referred to as “carriers.” For carrier parents, there is a 25 percent chance in each pregnancy that both copies of the disease gene will be transmitted to the baby.

What is the kidney problem in ARPKD?

In ARPKD patients, small cysts form in the last section of the nephron called the collecting tubule. A cyst is a balloon-like widening of the tubule. In ARPKD, the abnormality always involves both kidneys. Due to the numerous nephrons with small balloon-like dilatations, the kidneys can become quite enlarged. In addition, the normal function of the collecting tubule is disrupted. In the normal kidney, the collecting tubule fine-tunes the amount of water and acid in the tubular fluid so that the body retains an appropriate amount of water and eliminates excess amounts of acid. In ARPKD patients, the cystic collecting ducts cannot retrieve water efficiently, causing much more urine production than in children with normal kidneys.

For ARPKD patients, the size of the kidneys and the degree to which their function is abnormal depends upon how many of the collecting ducts are cystic. For reasons that are not completely understood, the majority of ARPKD patients have a progressive loss of kidney function. However, the age at which kidney failure develops varies greatly among patients.

Are only the kidneys affected in ARPKD?

ARPKD affects both kidneys and the liver. Affected children may have significant kidney involvement at the time of birth, meaning very enlarged kidneys and decreased urine production. In utero, urine production is a critical factor in maintaining normal amniotic fluid levels. When amniotic fluid levels are very low, lung development can be impaired. In some newborns with low levels of amniotic fluid, impaired lung development can result in serious breathing difficulties that ultimately can cause death.

Children with ARPKD often produce very large volumes of urine and must urinate much more frequently than children with normal kidneys. Given the kidney abnormality, urine production in ARPKD children does not slow down at night or even when liquid intake is limited.

About one-third of children with ARPKD who live beyond the newborn period will require dialysis and kidney transplantation by 10 years of age. High blood pressure is very common in children with ARPKD, and current information indicates that untreated high blood pressure can lead to kidney failure more quickly than if the blood pressure is kept within the normal range with medications.

Children with ARPKD also have the liver abnormality called congenital hepatic fibrosis that may lead eventually to enlargement of the liver and spleen. In the liver, the abnormality can impede the return of blood from the intestine to the liver. This condition, called portal hypertension, can lead to distention (varices) and increased pressure in the veins around the esophagus, the stomach, and the intestine. These varices can rupture, leading sometimes to life-threatening gastro-intestinal bleeding. In addition, portal hypertension can cause splenic enlargement and hypersplenism, with resulting low red blood cell, white blood cell and platelet counts.

Tuesday, October 26, 2010

Physician Roll Call

I wanted to give everyone an update on our "physician roll call" and schedule so when you hear a doctor's name, you can place it with their speciality and where and when we talked or met with them.

Dr. Jeffrey Elliott - Lindsey's OB/GYN in Arlington, VA at Virginia Hospital Center (VHC)

Dr. Jon Katz - Maternal Fetal Medicine (MFM) in Arlington, VA at VHC; it was Dr. Katz who originally diagnosed the PKD via "high level" ultrasound.

Dr. Amy Lewanda - Pediatric Geneticist at Inova Pediatric Speciality in Fairfax, VA.  We saw Dr. Lewanda Monday, October 25th.  She is going to guide us through the genetic testing to determine exactly how Stephen got PKD and if Bill and I are carriers.  She'll also help us in the future to determine what are chances are of passing PKD onto future children and how we can prevent that from happening.

Dr. Christopher Harman - Director, Center for Advanced Fetal Care and MFM doctor at University of Maryland in Baltimore, MD.  Dr. Katz recommended Dr. Harman as a second opinion.  We see him Thursday, October 28th.  Dr. Harman will hopefully perform a second "high level" ultrasound, fetal MRI and potentially take a biopsy to confirm the diagnosis.

Dr. Kanwal Kher - Pediatric Nephrologist at Children's National Medical Center in DC.  We are meeting with Dr. Kher on Friday, October 29th.  We were connected to Children's National through one of Bill and Steve's Secret Service connections.  They have been wonderful so far and extremely compassionate!

Dr. Bernard Kaplan - Pediatric Nephrologist at Children's Hospital of Philadelphia (CHOP).  We going to CHOP on Wednesday, November 3rd to meet with a team of physicians at the Center for Fetal Diagnosis and Treatment.  We have heard amazing things about CHOP, and have been connected with them through a co-worker and her husband.  They connected us with a nephrologist at UPenn who connected us with Dr. Kaplan and with a neonatologist (Dr. Eddie Chang) in Eastern PA who also connected with us CHOP.  We are extremely excited about this appointment and can't wait to meet their team!

We've also been connected to a physician in Kentucky who helped a friend of a friend when her amniotic sac ruptured and needed an amnio infusion (replacement of the amniotic fluid in utero) and also to University Hospital in Cleveland through another one of Bill and Steve's Secret Service connections.  So many people have heard our story and would like to help.  We're just so grateful and lucky that we live in area with amazing doctor's and are able to get Stephen top notch care without traveling too far away from home.

Tuesday, October 19th

Last Tuesday, October 19th is one of those days that Bill and I will never forget.  It was going to be an great morning because we were going to get to see our "little guy."  It had been 7 weeks since we'd seen him last and we were dying to know what changes had happened over the past couple of weeks and how big he had gotten.  But unfortunately, Tuesday would turn out to be the worst days of our lives.  I know, it sounds incredibly melodramatic, but now, being in my shoes, I can honestly say that our lives will never ever be the same.

To give you some quick background, Bill and I are expecting our first baby, a boy, on January 14, 2011.  His names is Stephen Charles Schwartz, and he's been named after his grandfathers.  Tuesday was supposed to be a routine sonogram.  At the 20 week ultrasound, the technician noticed a little "shadow" on one of Stephen's kidneys.  We were told at the time it was nothing, probably just a shadow from the way he was laying in utero and it was nothing to be concerned about.  At my next appointment with my OB/GYN at 23/24 weeks, the doctor reiterated the same sentiment.  It was nothing to be concerned about, the baby looked healthy, I was healthy, and everything was great.  At that appointment, I mentioned that we have no family health history of kidney disease, but that we have a niece (my sister's youngest daughter) was born with one kidney, instead of two.  She's completely healthy, but only has one kidney.  So, he said, "why don't you come back in 4 weeks and we'll take another look."

So...Tuesday was that day.  The sonogram technician went through all his organs and everything seemed to be fine.  Then she said, "there is no fluid around the baby.  I don't think his kidney's are working."  And that was all we heard.  From there we met with the doctor who gave us the grim news that because the baby's kidneys had stopped working, he stopped producing amniotic fluid, and because there is no amniotic fluid, his lungs wouldn't develop.  They sent us to a specialist that day to confirm what the ultrasound technician saw, and he confirmed, that Stephen has polycystic kidney disease (PKD).  It was (and still is) devastating news.  Basically the jist of the conversation was that our little baby's kidney's are broken and there is nothing we can do to help him except to pray for a miracle.

But as you will learn, we were are not taking "no" for an answer.  Bill and I are resigned to find a team of doctor's that will help fix Stephen's kidneys and get his lungs working.  And we think we are on the right track.  As we learn more and more everyday, and talk with other families with children who have autosommal recessive PKD (ARPKD) (the type we believe Stephen has) and who have survived into childhood, we become more and more hopeful everyday.

I know this is a lot to throw out there all at once.  We just ask that all our family and friends keep Bill, Stephen, and myself in your thoughts and prayers.  We know that if we remain positive and ask God to watch over us, we will win this fight and Stephen will live a long and healthy life.