I will start by saying that this is a long post (long even for me). There is not a simple way to write this out without sharing what we feel are the important details. We have been through a lot during Aiden's first 10 and a half weeks of life, and we want to share it with you now that we have some solid answers. We have included as much information as we can so that you can understand what has been going on. We've tried to shorten it and make it simple and not too drawn out, but it is still a lot of information.
When Aiden was just 1 day old, we discovered some marks on his bottom near the base of his spine. (You may have seen some pictures on our online albums from when he was first born and still in the hospital.) The doctors there did not know what it was, so the dermatologists stopped by when they were doing rounds. They weren't sure - thought maybe a birthmark but wanted to do a biopsy, which we OK'd. We went back to Duke to see the dermatologist that next week (the spot was almost gone at this point) and received a diagnosis:
incontinentia pigmenti (from here on out referred to as
IP). This is a (typically) genetic condition and has many components to it - but mostly affects girls (and more harshly affects girls). It is a very rare condition - and even much more rare in boys. There can be a number of skin abnormalities, there can be severe eye problems, teeth problems, developmental and neurological problems... We were told that the good news is that most boys are limited to having the marks on their skin and that is typically it - this is what the dermatologist said he believed, at least. BUT we were referred to a geneticist to receive testing and confirm the diagnosis.
We got more information, though, from some family members. I have an aunt that is an OB nurse and one that is a family doctor. Through them, we learned more and were more prepared for what could be our reality with this diagnosis. From them and our own research we found out that there is a reason so few boys have this diagnosis - most do not make it through the pregnancy. For those that do, many times the reason they survive is b/c they have an extra X-chromosome (which would also mean they would have
Klinefelters - causing them to be infertile). (Klinefelter's is NOT genetic and is completely random.) This was scary news for us, that our child might be infertile. It was hard to digest that something that could have possibly
saved him and allowed him to be born could have this other result, too. We were warned that b/c so few boys are born with this condition (IP), there is little known about it with this gender. So we were told to limit his exposure to other people and wait until we met with the geneticist to proceed with any vaccinations - all b/c it is unsure how strong his immune system was until we found out more.
(So...if you were one of those people that visited or saw us during Aiden's first few weeks, and you wondered why we held him so close and did not share, please understand this is why.)
We called the dermatologists again and asked more questions - especially asking how certain are they of this diagnosis (
fairly certain due to consistencies with IP and the biopsy and the marks that were on his skin - only one other diagnosis was considered and the marks would have gone away sooner with that diagnosis). I had tons of questions, and the resident on the case was very patient and answered everything. It was reassuring that they were giving us the time - and that we had a dermatologist on the case that deals with uncommon conditions (esp in children). We also asked for (and recieved) a referral for an eye exam at Duke to check for any eye abnormalities (which can be a more serious problem with this condition and people are urged to be checked sooner rather than later - the eye problems can result in vision loss, so we didn't want to put the exam off!). That eye exam (at 3 weeks old) showed that his eyes were perfectly normal - good news for us.
This appt with the geneticist was first scheduled for November b/c she is so busy, but after repeatedly calling and asking (very relevant and important) questions, they were able to bump us up and overbook her - so we got in when Aiden was just 3 weeks!
Thank God!!
At this appt, we went through a
very intense family history creating a very detailed genogram of our family - including any known issues with developmental problems, miscarriages, births of boys (b/c remember that most boys w/ IP are miscarried and do not make it to birth), skin conditions, and a multitude of other possible indications of a family history with IP. (I mean, this took a LONG time!) Aiden had to have blood drawn - and a LOT of blood, the poor thing (a few regular-sized vials!)! That was hard on all of us... They did one test to look at the NEMO gene (yes, it's really called that - just like
Finding Nemo...) to see if there were any abnormalities - that would indicate IP. They also did a chromosomal test that would show if there was an extra X chromosome. The results... due back in ONE MONTH. Thus began one of the hardest waits we have endured....
Aiden after getting his blood drawn. They drew soooo much - he had to be exhausted from losing so much. He looked so pitiful! :( It was a rough day!!
As you can now guess, this has been a very, very emotional and difficult time for us. We were worried about our son's present and future all at once. We did not know if he had this condition, how he got it, and what exactly it meant for him (b/c so little is known about boys with it). We have spoken with very few people about what we have been going through. Why? Because this is so sensitive and difficult for us, we did not want to be faced with a lot of questions (that we really had no answers for) or reminders. We talked with parents and a few close friends that would pray for us (and most did not know the details but just knew we needed prayer). We hope nobody is offended that we did not tell you about this. It is what we felt was right for our family while we waited for more answers.
Onto the answers - the ones we do have.
After a month, we approached the night before our appt with the geneticist. That was a hard night (and then a hard morning) to get through. LOTS of praying - that our baby was ok, that we could accept what lay ahead if he wasn't, etc, etc. LOTS. And lots of worrying and crying. I know that God has a plan for Aiden. He has it all mapped out and knows everything about his life. We don't know what that plan is, whether or not it includes this condition and the effects from it, but we prayed that we can accept what we do find out and follow in the path that God has set in front of us.
At the appt, we had to wait a couple hours before getting to see anyone, which made things even harder, caused the anxiety to build even more. When she came in, there was a man with her, which worried us a bit. He turned out to be the cyrogeneticist (he works with the labs and is there every so often to help explain lab meanings/proceedures/results, etc.). It was very helpful to have him there. They had lots to say, we had lots to ask. So - results... As soon as she said the word "normal" I started to cry. What a release! (Not necessarily relief - but just the release of all that anxiety built up!!)
One test was for IP - came back "normal," no mistake in the NEMO gene. This means (reality check here) that there is still a 20% chance he has the condition, BUT the 20% that doesn't show up on the test are usually very mild cases. He could also have a
mosaic form of IP, which would mean that it would be localized (only occuring in the same spot he had the marks before) and it would also mean that it is NOT genetic! (That means it would have happened RANDOMLY, as it could have with any other person, at some point during the division of the cells during fetal development. It also means that we have no reason to worry about having other children with this - which was a valid concern, especially if we were to have a girl in the future.) So what now? Can we test for THAT type of IP? Well, if the spot were to return, we will contact the geneticist to come in while the spot is still there and do another biopsy to check for the mosaic form of IP. But there is the possibility that it will not return. And there is the possibility that he does not have IP. We also go back in a year for a follow-up to see where he is then.
Next test - chromosomal.... This also came back normal. Another reality check here - this was only one form of testing for an extra chromosome (blood test). There is another way to test - skin test. (Most other places do not go to this next step - they stop at the blood test, so we are very thankful that we are at Duke and that we got this other test performed b/c it will take us one step closer to an answer.) They did a buccal swab - they took a little toothbrush type thing and swabbed inside Aiden's cheek (no blood to be drawn this time!!!). This test was only to take a couple weeks and we would not have to return to the office for the results (which is nice partly b/c specialists visits are not cheap, and we're accruing quite a few here). Now, these are the two most common ways to test for the chromosomal abnormality. After that, there is an indefinite number of cell types to test!!! But first, this skin test. Even if it were to come back as positive for the extra chromosome - it would mean something different. It would mean that he would have a skin mosaicism form which means he
could be infertile or
could NOT be (basically, time would be the answer to that). Why? Because a mosaic form could occur at any point in the cell division of fetal development. For example, if it occurred at the 16th division, only the descendants of that cell (any other divisions on that string) would have this mosaicism. If one of those descendants had something to do with his sperm - then he could be infertile. But there would be the chance that it did not, leaving him able to have children. If the test were to come back negative - finding no extra X-chromosome.... Remember that I just said there is an
indefinite number of cell types to test for this. You could test forever and not get a definite answer. BUT if it came back normal, we would be able to assume that Aiden has just as much of a chance as ANYONE else of being infertile.
We did not get the test results in the mail at 2 weeks later, as expected. (Though we did get a write-up of our first visit and read through the entire thing, anxious as can be, wondering where are the answers we are looking for! That was not a lot of fun...) After the third week was complete, we contacted the doctor to find out what was going on. She emailed us and stated that this test came back as normal and we could
rule out Klinefelter's Syndrome. (We just got the paperwork with the write-up this week, so now it's in writing!)
So, we have some very good answers - no Klinefelter's, only a small chance of Aiden having a mosaic form of IP (which we all could live with b/c it would mean only some marks showing up on a covered area maybe another couple times in his life if at all). But we still don't know if this is what he has or if it is something else. And how would we find out, seeing as the spot has been gone since a little over a week of age? We do have a follow-up visit with the dermatologists in November - and we will see where they want to go next. We would love to have an answer, but only time will tell. (Continued prayer for Aiden in this regard would be appreciated!) Right now, we are happy with what we
do know.
We are very thankful right now for so many things. We are very thankful that we live here, that we delivered at Duke, and that we are going to Duke for all of this medical stuff. We both agree - THIS is why God brought us to this area. We would not be getting this treatment from such knowledgeable medical staff anywhere else! This condition he could possibly have is very rare, and there is no better place for us to be. Even the geneticist has treated a child and written a report on a case of IP with the Klinefelter's syndrome - it is so rare that it was a huge deal to treat someone with that, and our doctor has done so. That is very reassuring and causes us to be so thankful.
And most of all, we feel so blessed to have Aiden with us. For a long while (what felt like a long while to us!!), we were faced with thinking that Aiden could have easily not made it through the pregnancy. We have not taken one day with him for granted and are so thankful he is just ALIVE and with us.
"For I know the plans I have for you," declares the LORD, "plans to prosper you and not to harm you, plans to give you hope and a future." Jeremiah 29:11
Edited for Update: Please visit here for the most recent blog update on Aiden's medical issues (as of mid-November 2008)
