The Luca John Foundation

This is the new video for the Luca John Foundation. The parents who run Luca John were amazingly helpful to us, connecting us with other SRPS families and getting us the medical information we needed. They also help families in need with burial expenses, so it is all around a wonderful resource for families grieving a lost infant. Check it out, you might catch a glimpse of a familiar face...

The Culprit is Found (partially)

Scientists at UCLA (a fine institution) have identified one of the mutations which lead to Short-rib Polydactyly Syndrome. We haven't been able to access the actual article yet, as it will be published in the American Journal of Human Genetics in a few days, but we have read the news piece that UCLA released on the discovery.

The good news is that they will be able to identify SRPS earlier in pregnancy. Currently the process is to ultrasound around week 12 and count fingers and toes and measure the ribcage and limbs. Ten and ten is a good sign, but not definitive. With ten and ten you would schedule more ultrasounds and monitor the baby's growth, to make sure that the chest and limbs were progressing normally. Now that a genetic marker has been found they could offer us genetic testing that would give us a definitive answer by week 12.

The bad news is that the carrier rate appears to be much higher than we were told (1 in 300). However, this is still pretty rare if you think about what that means: Jeff is a carrier, I am a carrier, we each have a carrier parent, a carrier grandparent, and probably one carrier sibling each. That is eight carriers, which means 2,392 people get to not be carriers. If you add in the likelihood that we both also have carrier Aunts, Uncles, and cousins, it is possible (although not likely- you meet a lot of people over the course of your life) that the geneticist was right that we don't know anyone outside our family circles with this gene mutation.

The discovery they made is only one piece of the puzzle. They believe that their are multiple mutations involved in SRPS, so they will continue to search for those. I am thankful that we will have access to answers earlier in pregnancy, but this isn't a cure. It is just early notification.

We found out about this discovery when my mom happened to click on an article in Bruin link. I have to admit I was a little irritated that we found out that way, since I am fairly sure this was the research team we gave DNA samples to. In exchange for my genetic code I had hoped for a little information.

For those of you who are related to us: we don't know yet how much testing will cost. Because it is not common, the test might be expensive. We shall see. I will post information as soon as I find out more.

Sometimes You Get What You Pay For

At the end of October we received an email in our Loving Leah email account, with the subject line "SRPS." The contents validated why we continue this blog, but they made us terribly sad. In the message we learned of another family who had recently received a diagnosis of probable SRPS. Eric and Erin learned that something was wrong at their 20-week ultrasound. They originally were told their son, Evan, had TD (a non-inherited lethal skeletal dysplasia), but the doctors at Cedars believed they actually had SRPS without the presence of polydactly. Thanks to the amniotic fluid, the doctors could see the baby well, and both the specialist in their hometown and those at Cedars were able to look at their ultrasound pictures.

When we first "met" Eric and Erin, they were 24 weeks pregnant. They hoped to spend some time with Evan in their arms, just as we had with Leah. We emailed about gentle delivery techniques, how long they might be able to carry him (those of us carrying babies with negative diagnoses have a higher rate of pregnancy complications), and how to cope in the meantime. I was so impressed by their commitment to their son, and their openness with us. It was a pleasure and a privilege to connect with them. I felt bad that we weren't able to offer them more support, but we were swamped with adoption paperwork and only barely handling our own grief.

Erin had a healthy pregnancy, and Evan stayed strong the entire time. They ended up delivering on Thursday, January 22. I knew they were headed to the hospital, so I waited impatiently for updates all weekend. Jeff and I were praying that Evan would survive labor and have time with his parents and big sister.

On Monday morning we got another email, entitled: The Doctors Were Wrong!
Evan not only survived labor, he was still going strong, at home, with no respirator. In fact, their doctors told Eric and Erin a mistake had apparently been made. Evan has dwarfism, but not the lethal variety. They predict he will have a "normal" lifespan.

That is why you fight for your child.

Eric and Erin thought they were fighting for a few precious minutes, but in reality they were fighting for a lifetime.

They believed they carried Evan for a chance to kiss his cheeks, whisper in his ears, and cuddle him as he passed away. Now they will do those things every single night as they tuck him into bed.

It is no easy thing to carry a baby when you know that baby won't survive after birth. The sacrifice Erin and Eric made for their son had benefits their doctors didn't anticipate. They have a son, and they get to keep him.

Seven percent of babies diagnosed with a lethal skeletal dysplasia actually have non-lethal forms of dwarfism. We are so thankful that in this case the misdiagnosis happened to a couple that cared about meeting their baby so much.

They "chose life" and they received it. How fitting.

Read Evan's story from their perspective: evans-story.blogspot.com

Dwarfism Awareness Week

It may not be exactly official, but Tonya, who keeps up one of the most informative blogs about dwarfism that I have come across, What is Normal? has declared this week "Dwarfism Awareness Week." She has asked other people to post about why they chose to continue their pregnancy after they received a diagnosis of dwarfism.

We continued on with the pregnancy because we loved our baby and wanted to spend as much time with her as possible, and we hoped for a few minutes with her after birth. As I have shared before, those minutes we had with Leah were worth the hard times. We had joy. We held it in our hands when we held our beautiful baby, our precious Leah whom God created and gave to us - if only for a little while. I believe we mourn more deeply because of those moments, since we can more fully comprehend what could have been if our beloved daughter did not have SRPS. That said, the memory of Leah and the time we had with her also help mitigate our pain. We had joy.

Our Leah had the cutest cheeks, precious pudgy legs and arms, and perfect little ears. We wish she would have had a non-lethal dwarfism so that she would still be with us.

Connection

At the end of September I posted on the parents' message board of the Luca John Foundation. I felt a little skeptical about how much good it could do because the most recent post that I could find had been put up months before, and only a handful of people had used the board. But beggars can’t be choosers, so I went ahead and left some information about myself and the blog. A little over a week later I got an email from one of the people who started the foundation, a SRPS Dad. Since we made contact he has gone to great lengths to put us in contact with other families with SRPS. We have already received a few emails, and we are expecting a few more.

At the same time that I had initially tried to touch base with others via Luca John, I also sent an email to the SRPS Family Network. Jeff found the network information in Google cache. The website for the network was (at the time) no longer up, and hadn’t been updated in quite a while, but I was able to find an email address and send a request for information. This week I got an email from the organizer, a SRPS Mom, including an attachment with stories from other SRPS families. She explained that the network is a very loose association. They collect stories and give out information when a new family is diagnosed.

It was really nice to know that we are not alone. I have been able to make contact with some pretty amazing women who have lost children to various lethal skeletal dysplasias through this blog, and I love reading their blogs to see how they manage to cope with losing their babies, but none of them have to deal with the genetic problem that we contend against. I just wanted to find someone who went through all of it: the diagnosis, the loss, and eventually the news that it could happen again.

Not Many Answers

Jeff and I finally got the call from Cedars Sinai confirming that they wanted our DNA for research purposes. While I was talking with our contact there I had a few questions about SRPS. Since Cedars has the most active research on SRPS I thought maybe I could get some straight answers.

Most of what we know about our condition has come from reading case studies on the internet that have been published in medical journals. Although these papers contain some background information and theory, they tend to be very specific to the type of SRPS they are diagnosing and the conditions of the specific baby they examined. They also frequently contradict each other, since groups come up with different theories about SRPS.

I would like to know the incidence rate of the SRPS gene, if the four types of SRPS are actual subtypes or just different expressions within a spectrum, and how many cases of SRPS they receive every year/or have received total. The different case studies provide different answers to all of these questions, so it has been hard to decide what to believe.

I am very curious to know about other families with this condition because I feel very alone.

Our contact at Cedars was not able to give me many answers, although she did direct me to the Luca John Foundation, which was founded by an SRPS family and exists to support research of skeletal dysplasias. Additionally, she did tell me that SRPS might not be one syndrome, but rather a few separate syndromes that look really similar (and hence have been classified together) but that may be caused by completely different genetic mutations, and that these mutations probably don’t interact together. If this is true, and the different subtypes of SRPS are different, then the incidence rate for SRPS (which would have to be divided out among the types) would be even lower, and Jeff and I would be even bigger freaks of nature than originally thought. She couldn’t tell me the number of cases they have or how many they receive each year, ostensibly because of a computer problem. I felt a little irritated that she didn’t offer to get back to me when her computer started working again, but I got the distinct impression that she was annoyed by my questions. That makes me pretty mad, because I am giving them my DNA. They could at least reciprocate with a little information.

Update: Since writing the above post I have been in contact with a few other SRPS families! We are so excited about this development. I will post about it soon.

Confirmed: Short-rib Polydactyly

Last week we got the call from our geneticist saying that Cedars confirmed our diagnosis of Short-rib Polydactyly Syndrome (SRPS). I was really surprised to hear from her so soon, because we were originally told that confirmation would take 3 to 6 months. Finding out that the experts agreed with the diagnosis of SRPS really upset me, which took me by surprise because I thought that I had accepted the original diagnosis. I didn’t realize that I still had hope that they were wrong.

The doctors at Cedars also assigned us a type, Type 1- Saldino-Noonan. The medical literature on SRPS debates the accuracy of typing cases because SRPS has so many possible variations. Right now doctors have identified four types of SRPS, and each case is assigned to one of these sub-categories. However, many of the case studies (which is what most of the medical literature consists of) demonstrate that often the babies diagnosed with SRPS don't fit very well in any of the types. This leads scientists to believe that SRPS might have a spectrum of expression.

If there are indeed types, and SRPS is caused by different variations in whatever gene it effects, then Jeff and I could expect future pregnancies affected by SRPS to work out very similarly to Leah's. We would expect our gene combination to result in many of the same problems next time around. The timeline on the pregnancy might differ, based on the progression of the hydrops, but we would expect to see the rest of her problems repeated.

However, if SRPS has a spectrum of expression then we would have no idea what to expect. Not all babies with SRPS have cystic kidneys that cause oligohydramnios (lack of fluid), in fact often skeletal dysplasia results in hydramnios (an excess of fluid). SRPS babies can have other internal anomalies, as well as cleft lips and palates, ear deformities, and sex reversal. Some babies with SRPS even have a normal number of fingers and toes, although most have extra. No babies with SRPS survive.

We are hoping that they discover that typing is accurate, although it appears that the consensus is leaning towards spectrum. I would rather have a defined set of things to expect should we choose to get pregnant again, especially now that I know how many bad things can happen with SRPS, thanks to all my research.

I mentioned earlier that Cedars gave us our diagnosis more quickly than we expected. Apparently they worked to get it done quickly because they are actively researching SRPS right now. They believe they are very close to identifying the gene, in fact it may be only months before they find it. Jeff and I have been accepted into their research study, so soon we will be signing more consent forms and sending them our blood.

Information for Our Relatives

Now that Jeff and I have been identified as carriers of a lethal genetic mutation, you may be wondering what this means about your genes. Some of you will also be carriers of this gene. At this point we have no information about which side of our family the gene came from, and currently no test exists to identify carriers. So what are the odds of you carrying the gene?

If one of our mutual grandparents was the carrier, then your parent has a 50% chance of having the gene. If they did inherit it, then there is a 50% chance that they passed it to you. If you inherited it, there is a 50% chance you will pass it on to your children. Because the gene is recessive, it will not affect you or your carrier children. The only way it becomes a problem is if you or your children marry someone who also carries the gene. If both parents carry the gene there is a 25% chance, for each pregnancy, of having a child born with short-rib polydactyly.

There is no way to tell if you carry the gene. However, even if you do it is very unlikely that you will marry another carrier, provided you avoid marrying your relatives, which you should probably do anyway. Research is being done at Cedars-Sinai Medical Center to identify the gene for short-rib polydactyly. We have been told that it is one of their most active research endeavors, and that they expect to identify the gene within five years, but possibly much sooner. At that point my parents will be tested to find out which one of them carries the gene. Based on that we can determine which side of the family this came from, and those who wish to can undergo testing.

Until we know which type of short-rib poydactyly Leah had, it is impossible to know the incidence rate and the rate of carriers in the general population. Our genetic counselor has indicated to us that all types are extremely rare, and that it is possible that outside of our relatives we do not know any other carriers. When we know more we will pass on the information.

The Hard News

I know our posts have been slowing down a bit lately. My words have dried up. When my writing focused on all the amazing things that happened leading up to Leah’s birth the words poured from out of my heart. They flowed as freely as my tears did as I sat at the computer and wrote and cried and remembered. Thinking about my pregnancy and Leah’s birth and the miracles God worked during that time is easy. The joy those memories bring dulls the pain of loss.

When it comes to writing about anything from June 25^th on, it gets much harder. The only good things that have happened since then have been the amazing support and care we have received from our friends and family.

I have been struggling to write this post for weeks. I have tried recounting the events of June 25^th, to paint a picture of the grief, shock, and devastation of that day, but it is entirely too painful.

That day, the day after Leah was born, our genetic counselor came to meet with us before we checked out of the hospital. I hoped it was just routine, but seeing her at the door made me apprehensive. She had told us at our last meeting that there was no reason, based on the ultrasound, to suspect a genetic cause. The majority of cases of lethal skeletal dysplasia result from dominant mutations that randomly occur at conception, and Leah’s ultrasounds didn’t display any of the characteristics common to recessive (i.e., inherited) genetic dysplasias.

However, the examination Leah received post-mortem indicated that she probably did have an inherited disorder, called short-rib polydactyly. The gene for this dysplasia has not been located, so there is therefore no test to verify the diagnosis. However, families that experience this with one child who chose to have more children frequently deal with it again. It also occurs mostly in marriages where the spouses have a relative in common. Thus they have determined there is a genetic link.

This condition is so rare, that the hospital did not feel comfortable giving us a final diagnosis even after completion of the full autopsy. Instead they have sent everything to the International Skeletal Dysplasia Registry at Cedars-Sinai Medical Center in Los Angeles for expert confirmation. They did this because they feel uncomfortable giving us such a serious diagnosis when they have so little experience with it, not because they believe the diagnosis will change.