wolfhirschhorn.org

Greetings WHS Family,
We are new to the Wolf-Hirschhorn Family Organization.  Our baby girl, Madison Lilliana Seregant was born on July 19, 2015.  She weighed 4lbs, 3.2 ounces and 17 inch long. 
She is now 7 months and weighs 12 pounds and 24 inch long.

Finding out that Madison has been diagnosed with WHS:
Week #34
(ending of June 2015) we went for our routine checkup the Dr. said everything was fine but was concern that I had not gained a substantial amount of weigh that he recommended an Ultrasound the following week I remember that day that early in the pregnancy my OB said if something was wrong you get an additional Ultrasound. He reassured me if something was wrong it would be taken care of. He sent me home and told me stop doing exercise, gave me additional vitamins, and to come back in a week for the follow up.

July 1st 2015 The Downfall:
Week #35:

As I went to my appointment, I felt weird because this was the 1st time ever that I went alone because either my husband or his mom would always come. Getting started with my ultrasound the tech started asking me what was the result of my Down Test; (I was recording the imaging but she paused and asked me to stop) She went and brought another tech into look at my imaging and then they both stepped outside. I could hear them talking in the walkway saying that one of the chambers of the heart was not fully closed. Five minutes later, another doctor came into the room and viewed the imaging, and then they sent me to the OBGYN office were it took 15 minutes for him to come and talk with me. I heard my OBGYN making a consult, but never thought he was talking about me all the time. At exactly 4:15PM, he walked into the room with the nurses. I was already overwhelmed as to why it was taking so long, but deep in my heart I could tell that something was wrong. The OB proceeded to check me out and asked me what the tech told me. I said nothing, but I feel something is not right. He then said: “Well we are very concerned as you are in week 35 going on 36 in a few days and your baby has a 6 week delay in growth; meaning she is the size of a 28 week old baby and only weighs 2Lbs. Then he said that it could be one of many things:
It can be placenta previa: when the placenta does not do it job
That had miscounted the weeks (I replied that I have been coming here since my 2nd week of pregnancy so that couldn’t be possible)
Your baby just stopped growing without any reason.
The OB at this point continued to say: “Due to this we will deliver your baby in next 48 hours and we are sending you to Trident Medical Center to check in for delivery. We will start you on steroid shots so that the baby lungs will develop.” At that point, I felt that I could just run away as fast as I can, and don’t stop until all the pain went away.
By 5:45PM, I was being admitted at Trident Hospital and they looked at all the imaging and decided that due to the weight of the baby, they could not deliver her as their NICU was not for babies that come with these type of complications. They administered the steroid shot and then made a referral for us to be sent to MUSC (Medical University of South Carolina) so that they can schedule a C-section. So I was discharged, and they wanted us to call the EMS for transporting which I refused. My husband was working out of town 3 hours away and could not get to us until 9:30PM. By now I have managed to get myself together, and make calls to everyone and tell them what was happening. The 1st person to reach to us was my sister in-law Celeste. She then helped me check out and drove me to MUSC, as they were waiting on us.

At 8:45PM, I’m already at MUSC, and they started redoing the ultrasound to make sure my baby went from being in position to breached in a span of 3 hours. I was a nervous wreck at this point. The tech at MUSC said that my baby was not under 2 pounds like they previously suspected, but that she was more or less 2Lbs 8oz. I was monitored for 3 days during this time and they administered a second round of steroids. All I could do at this point is pray and keep praying. We were under the impression that we would’ve had a July 4th baby, but that evening we were discharged with referrals to the Women Wellness Center. Since it was the weekend already, all we can do at this point is wait.

Week #36 July 6th to 11th
During our 1st visit to the Women’s Wellness Center at MUSC, we were greeted by a counseling team and then had an interview with Sally Shields, who was the person in charge of our case. She told us the plan which started by getting some blood work and ultrasound and also asking our approval for an amniocentesis and also a FISH prenatal test: (is prenatal test which looks for a few common chromosomal abnormalities typically these are limited to Trisomy 13 (Patau syndrome), Trisomy 18 (Edward’s syndrome) and Trisomy 21 (Down syndrome)) I was asked lots of questions over and over again which resulted in us calling our families to find out more about our family tree and all this information. We were not given any cause or concern of any possible hereditary abnormalities in our families.
A few days passed by and on July 8th we were call by the counselor saying: “We have the result of the Fish Test and we have good news! Your baby does not have any of the common chromosomal abnormalities!” and she hung up the phone. Finally I could breathe and started getting very excited and managed for once in the last few weeks to finish our baby’s room. I went ahead and did all the final preparations, and we had a pregnancy photo shoot scheduled for the weekend…

July 10th at exactly 6:06pm WHS CONFIRM DIAGNOSIS
I received a call from the counselor and after greeting each other she asked, “Are you alone?” I replied no, there’s someone else in the house with me as my mother in law was there keeping me company as we were just waiting on this call that I wish I never answered. After a few minutes she said: “I just received a call from the lab and they have a preliminary diagnosis.” I replied, “Should I be worried?” She replied, “She can either let me know by phone or to come in Monday to the office in the afternoon.” I told her to tell me what the result was, and get it over with. I am under so much stress that I just wanted to know. I grabbed a notebook and pen to write down what was being said, as my husband was on his way back from out of town and would not be home for the next 3 hours. She continued saying: “The preliminary result shows that there’s a Chromosome Abnormality. There’s a broken chromosome and is the 4P and the upper part is missing.” She was talking, and I was not having an idea of what she was saying while she was talking. I sat by my desk and started to Google the words that I was not quite understanding. She said at this point: “Due to a missing part of the 4p upper part of the chromosome, this makes it falls on the WOLF-HIRSCHHORN SYNDROME” … I said what? I’ve never heard of such a thing! Could you please spell it for me as my primary language is Spanish? I felt like I was being talked to and not understanding a word she was saying…. She asked if I needed a translator at this point? I said no, and then I asked what does this means and what does it affect? She answered by giving me the following list;
1.- Poor muscle tone
2.-Growth deficiency even before birth and that’s your case that leads us to this testing.
3.-Developmental and intellectual Delays could be mild or severe.
4.-Small baby with small head.
5.-Facial: wide eyes, forehead, small nose and cleft pallet
6.-Small kidneys
Most of the broken 4P happens out of the blue, and to finalize it all she said normal people can’t notice that your child has a chromosome disorder.” While she was talking, I was taking notes of what she was saying while tears were falling. She kept asking if I was okay and I replied yes as I did not know what all she was saying. She said that my baby has a syndrome and it was coming with complications that were either mild or severe, but we’ll know more at her birth. She was going to call my husband, but I told her Brandon is driving home and I will make him call you. After she hung up, I cried and sat in silence like I had no feeling at all. I decided to Google and read what was said to me for 2 hours I read and read and I cried.
I started looking at pictures that came up on Google, and at first all you see and read is the worst case scenario… By 9:00PM I had so much information printed that I will educate myself to understand better what it is that my child has. Brandon walked in and I was sitting down crying and he asked what’s wrong. I started to bawl and told him that he needs to call the counselor so that she can tell him as I don’t understand or accept what is happening… While he was on the phone I was feeling angry at my OB because he did not catch this on time and I was angry at myself thinking what I did wrong? I called my family and told them what was told to me, and all they could do was tell me to pray. I even started to disbelieve my faith, because you never expect that for 35 weeks you dream about a perfect healthy child not a broken baby that you don’t know what to expect. After I cleared my head, I started to accept and keep praying and I told Brandon and the counselor my decision. I was not going to give my baby up for adoption as the counselor suggested. I went outside for a walk to try and recollect myself. While walking, I started to feel my baby kicking more and more so I stopped and turned around walking slowly. I just did not want to go home as I knew all this information was so scary but I decided that from that moment I would dedicate my life to care for my baby. How could you reject a baby that is still inside of you? I’ve been dreaming of all things we would do but now we were given different options… At that moment I felt that if I couldn’t care for her, who will? GIVING HER FOR ADOPTION WAS NOT IN MY BOOK!!! I will keep my baby even if means giving up a lot of things both personal and professional! My mind was set to do our very best to give my unborn baby the best life possible within our means and to love her no matter what… I went home and finished her nursery as I felt deep inside that we would be able to bring her home.

WEEK #37 July 12 to 18:
On Monday July 13th, I continued to be monitored and given a stress test. When we were finished, we were called to have the official diagnosis at the counsel office. Brandon & I and his parents were there. We had so many questions that seems like no matter what answer they gave us, it did not change the outcome that we were having a WHS baby. She then took us to the conference room where she had a team that would deliver Baby Madison so that they can make a plan. There was the High Risk OBGYN, who said he would practice the C-section if that was the path to take. While in the conference, they were running an ultrasound in real time so that they had a plan upon delivery. The Cardiovascular Pediatric said he will get her prepped for surgery once she can do an ultrasound of her at birth. The Pediatric Surgeon said he would close her stomach because in the ultrasound, it showed that her intestines were out and that the stomach was not fully closed. The Pediatric Nephrologist and Urologist said that once she was born, they would make the decisions whether she was going to have surgery or what would be the options. We were still in shock and now we are making plans for her arrival without letting us know what to be prepared for…Afterwards, they told us to don’t shop for anything else because we would not know the outcome.
The same day after the meeting, they said that they can do the C-section, but luckily I had breakfast that morning and we then rescheduled if for Friday 17 of July at 8:00AM At this point I just wanted my baby to be born so that I would be able to see what were the challenges we were going to have to deal with.
July 17:
I am a nervous wreck and I want for this all to be over with… They started preparing me for the C-Section but the baby was in position once instead of breached. So here’s comes a change of plan; they said that they would induce her, but if she was in distress, they would do a C-section… I was in labor for 2 and half days but finally Madison was born on July 19th at 1:27AM!