The beginning of our journey

Our journey began on June 1st when we went for a routine sonogram at 20 weeks.  We were hoping to find out whether we were having a boy or a girl.  During the exam the tech looked stressed but didn't say anything alarming.  The next day I went to my OB where she told me they were not able to see everything they wanted to on the sono and there were a couple of things they wanted to see better.  I instantly became very nervous and asked specifically what she was talking about.  She said the baby's foot looked a little odd.  She promised me I had nothing to worry about and scheduled me for a level II sonogram with a Maternal - Fetal specialist.  Unfortunately we only have one specialist in town so the next available appointment was over a month away.  I received a call from the Maternal - Fetal office on June 16th stating they had a cancellation and if I could be there in 20 minutes they could see me that day.  My husband met me at the medical office.  After a very long sonogram, in which we were able to tell something was amiss by the nervous laughs of the tech and the people running in and out of the room, we saw the doctor.  The doctor informed us that our baby girl had no nasal bone, a rocker bottom foot and is extremely tiny.  She went on to say those were strong markers for Trisomy 18.  She asked if we wanted an amnio to confirm.  We elected to have the amnio.  We were told the FISH results would be available in 3 to 4 days but the full amnio workup would take a couple of weeks.  The next 4 days were the longest we had ever experienced.  They were filled with research on Trisomy 18 and what that would mean for our baby.  We received a call on the 21st saying the FISH results came back negative for Trisomy 18 and were also negative for Trisomy 13 and 21.  The doctor said that even though that was good news we shouldn't get our hopes up.  With markers like ours there was definitely a chromosome abnormality we just didn't know what at this point.  Another long week passed before we were called with the rest of the amnio results.  We were told that our baby had a deletion on chromosome 4.  We had a follow up appointment with our doctor and another with a genetic counselor on June 30th in which we were told the baby has a very rare chromosome deletion (1 in 50,000) of the short arm of her 4th chromosome.  The deletion is the cause of a syndrome called Wolf-Hirschhorn. 

At home we instantly googled Wolf-Hirschhorn and found very bleak information.  Fortunately our friends and family sent us links to blogs written by parents who had children with WHS.  Everything on the blogs was much easier to read even when it was about countless appointments and endless medical problems.  When they spoke of those things it was written with parental love and did not refer to the children as 'case 1' or 'case 2'.

Reading those blogs has made me decide to start blogging.  I do have to mention I was/am reluctant.  However, we have friends and family all over who want to keep up with what's happening and we figured this was the easiest way for people who want to keep up with our journey to be able to do so.

Since June 30th, we have had countless appointments with our OBs, genetic counselor and even a neonatologist.  We have also had a tour of the local NICU.  We are trying to get as much information as we can before our baby girl gets here.  We are very lucky to have a team of wonderful doctors who are very proactive.  They have not actually seen a case of WHS, but are well informed.  We feel she is in great hands.  Our genetic counselor suggested we get a microarray analysis of our baby's chromosomes to determine the size of the deletion so we could have the most information possible.  The microarray results revealed that Magnolia, our baby, has a "classic WHS" deletion.  It is unfortunately 9.92 Mb in size.  This means she has a deletion of 16.1, 16.2 and 16.3.  The good news is there are no other deletions or translocations.