Jasper's story of his journey to a BWS diagnosis is a little different to others. It took a long time and a lot of luck to get a diagnosis. After 2 and a half years of struggling to conceive and 4 miscarriages I found out I was pregnant with Jasper on my 27th birthday. It was of course something that filled me with joy and worry in equal measures. I was desperate to keep this baby!!
When I was 5 weeks pregnant I woke up in the night with a bit of pain but quickly brushed it off as having a full bladder. After going to the loo the pain quickly increased untill I was rolling on the floor screaming. René my husband came running to my rescue, but I was terrified. This was to be miscarriage number 5, I knew it!!!
We called for a doctor, who came quickly to check me out. She determined we needed to go to the hospital. So at 3 in the morning I was on a bed in the ER with a drip in my hand and tears streaming down my face. They eventually took me to the gynecologist where I got an ultrasound scan. And there on the screen for the whole world to see was my little binky safe and sound. After a lot of very painful examinations it was determined that I had a cyst on one of my ovaries that had exploded. Due to the pregnancy they would only give me paracetamol for the pain. A few days later I was able to go home to rest some more. It was a very scary and painful way of starting the pregnancy, but from that point onwards we knew Jasper was going to make it!!
He was a little fighter!!!
The first 2 trimesters went on without so much as morning sickness. I felt great! The last trimester however was a little more bumpy. At 34 weeks 2 days I went into hospital with contractions. They were regular and getting faster. They hooked me up to a machine to check and sure enough I was having contractions. I begged with my bump to stay in just a few more weeks!!! And apparently he heard me. They started to slow and eventually after 6 hours of regular contractions it stopped. The nurses gave me some drugs and a sleeping pill and I spent the night in the hospital. I continued to have these contractions every day for almost 7 weeks. It made me very nervous and depression was starting to kick in. 40 weeks and 6 days I was induced. It all started well, but quickly turned into one of the scariest days of my life. I will save you the gory details but after more than 12 hours of labour, Jasper was born via an emergency c-section.
We spent 3 days in the hospital and were finally allowed to go home. We quickly settled into a normal family life. Jasper would cry a lot, but some babies do. When he was 3 weeks old he started to vomit more and more. In the beginning we just passed it off as normal. But quickly it became projectile. We went to the doctor a few times and our own GP. I also took him to the health visitor and was told by them all that as a first time mum I was worrying about nothing.
I was breastfeeding at the time and I read that it only takes 30 minutes for the nutrients of breastmilk to be absorbed into the body. So I would feed him which took almost an hour, and then hold him up right for half an hour, knowing that as soon as I lay him down it would all come back up. He was vomiting every 3 hours or so. After cleaning up all the vomit and redressing him and usually myself I had about 30 minutes before the next feed, sleep was non-existent. It took 3 weeks before our GP finally took it seriously and sent us off to the hospital for tests. Within about an hour he was diagnosed with Pyloric stenosis. For those who don't know what that is, it's when the muscle between the stomach and intestines is too thick and doesn't allow anything through. They quickly prepped him for being admitted. He had a catheter in his arm and a tube down his nose to drain his stomach. He looked so sick. I cried a lot that day.
The small hospital wasn't equipped to deal with an operation on a new born. So we went by ambulance to a bigger children's hospital. We waited for 3 days for Jasper's operation and in that time I wasn't aloud to feed him. He was getting everything he needed via his catheter, but that coupled with the stress, was enough to totally stop my milk production.
Jasper was 7 weeks old when he received his life saving operation. The following day we were able to go home and back to being a normal family. Or so we thought.
At 4 months old we took him for his normal check up with the health visitor. They noticed that Jasper's legs weren't the same length. The doctor sent us off to get an x-ray and an ultrasound of his hips as she suspected hip displaysia. After the results came back clear for hip displaysia we were told to come back in a year. So again we went back to being a normal family. Jasper was now old enough to start him on solid foods, which he loved...maybe a little too much.
At 5 months old he was having 2 x 200 g of solid food a day. Much much more than all his little friends. At 6 months old we took him for his next check-up with the health visitor and I was told that he had gained a bit more than 3 kg in 2 months. I was horrified to hear he was the same weight as a child 12 months older. We were sent to a dietician who did the math and reassured me that even if I had fed him twice as much he shouldn't be as heavy as he was. She referred us back to the children's hospital where he underwent more tests and xrays and was poked and prodded. Eventually we saw a geneticist who briefly told us about BWS but never gave us enough to google...very clever lady! We were all tested and a week before Jasper's 1st birthday we were given the diagnosis..
Although we genetically tested clear for BWS the pediatrician and the geneticist had decided that Jasper definitely had enough markers to be diagnosed clinically.
He has left side hemi, enlarged liver and kidneys, a stork bite on the back of his head, and he is at the top of his growth and weight chart. We have also recently found out that his mega fat umbilical cord was also a characteristic of BWS.
Even though I thought I had prepared myself for this news I was totally devastated. Hadn't my little baby been through enough?
Just like all the other mums and dads with BWS babies, all I could think about was my little man having cancer! Cancer is such a scary word! Especially when your child is involved. Every 3 months we take the long trip to the children's hospital for Jasper's ultrasound and blood tests. And then its back home to wait with anticipation for the results. Its a nerve wracking time. But once we get the all clear we try to be as normal as possible! We have already wasted Jasper's first year being worried and stressed. I couldn't bear to miss anymore.
When Jasper was 14 months old he underwent surgery to fix a closed tear duct. Luckily he coped really well, better than I did, leaving his lifeless body in the operating room for a second time in his life was heart breaking.
At the moment he is thriving. Jasper is now 21 months old. He is a very happy child, very laid back. He takes it all in his stride.
He's a little fighter.
I'm more than proud of my son and the way he has coped with all life has thrown at him.
In the beginning, I was mourning the loss of not having a normal baby, being a normal mummy with normal mummy worries. But, now I feel blessed and honored to have my BWS baby! He fills me with joy, pride, and love. I wouldn't want it any other way!!! He is the reason I get up everyday, my reason for living. I'm currently trying to overcome depression, and that would be a lot harder without him. I know that we still have a long road ahead, but with the love and support of my husband we will make it through.
I would also like to add that my BWS family are so very important to me. Every day I learn more and more! I would be lost without you all! Thank you for your kind words of love, support, and encouragement in my dark days. Xxx
I hope by sharing my story I can help spread awareness of BWS, so that maybe the next child doesn't have to wait a whole year for a diagnosis and screenings!