Joan has graciously shared a part of her story with us.

When I first found out I was pregnant with Nick, I felt a mixture of emotions, both happiness and fear, as 3 months before I became pregnant with him, I miscarried at 8 weeks. The pregnancy itself was rough, to say the least, because I had morning sickness ALL the time. I even had to be admitted several times for dehydration. During one particular ultrasound, the docs told me they felt something was wrong because he had short limbs and was very small, but soon that was dismissed because his father and I were both small. My due date came and went, and still no Nick.
On May 20, I was admitted to the hospital to have labor induced, and it took 32 hours for him to finally arrive. After an hour of pushing, he finally made his appearance, but it was hardly joyful as he was basically stillborn. He had an APGAR score of only one. They immediately whisked him away to a table across the room and started CPR. It took about 6 minutes until I finally heard him cry. As fast as he was there, he was gone, and they rushed him to NICU.

It was about 2-3 hours until they finally wheeled my hospital bed to see him. He was so black and blue all over his tiny little body, but he was so beautiful. It was then that we were told that he was found to have a very low platelet count, 7000 to be exact. Over the course of the next couple of days, it was determined that along with the thrombocytopenia, he also had 2 VSDs, a double outlet right ventricle, enlarged heart, and hardening of the pulmonary artery. We were later told that tests revealed him to be legally blind and deaf!
Twenty days later, he was stable enough to come home. Talk about being scared! I had no idea what I was doing, how I was going to take care of a sick baby! All of a sudden, I was in charge of not only loving this beautiful little boy but also keeping him alive and helping him get better. There was no way I was going to be able to do that! It’s impossible! At least, that’s what I told myself, but then we settled into this routine of doctor and therapy appointments. He started PT when he was 9 weeks old. He was getting better! It was all I knew, after all. For the first 3 months, our day-today living was consumed with going to the doctors for routine blood tests to monitor his platelet levels. And on days when we weren’t at the hospital, we had home nurses doing the same! Heart meds around the clock. And yet, he still remained such a happy little boy!

Throughout his nearly 18 years, he has fought hard. There have been many hospitalizations for illnesses due to viruses, pneumonia, and bacterial infections. When he was 1 year old, he underwent his first major surgery, a cardiac catheterization, and it was then that they diagnosed him with pulmonary hypertension and sent him home on oxygen. He remained on home oxygen for approximately 1.5 years until the pulmonary hypertension was manageable without it. Since then, he has been through many more operations, including tubes in the ears (multiple times), double hernia repair, double eye turn repair, bone marrow aspiration and biopsy, cleft palate repair, and most recently the surgery on his legs.
Over the course of the next couple of years he continued to get better, but we did not have a genetic diagnosis yet. He had been tested for Velo-Cardio Facial syndrome, Down syndrome, Smith-Lemi Optitz syndrome and Aarskog syndrome, just to name a few. It was not until he six years old that he was finally diagnosed with Jacobsen syndrome. By that time, the defects in his heart had self-resolved, and he was able to stay off all heart meds. Still, every roll-over and step was cause for a celebration. I couldn’t have been more proud of him, even if he had been a typically developing child. He finally learned to walk at 3 years old, and he was learning to run, jump, do somersaults. He was progressing slowly, but he was progressing. However, we were still alone.

I finally found Dr. Paul online and we met our first family with the same disorder at the conference in 2008. Nick was 12 years old. For the first time in our lives we were not alone! I was developing a network of extended family that I could talk to, cry to, lean on, celebrate his accomplishments with, and get support from people who know what we are going through every day.
Nick has had quite a few scares since his delivery, but he always bounces back! He is so strong! His strength was never more evident than the day I received the call that he had drowned at a camp for autistic kids. He had to be fully resuscitated, and it was touch and go all night, but he fought his way back to us. And when everything was said and done and he had recovered, he was back to baseline!
Before Nick came into my life, I did not know you could love someone so much. Nick will be 18 soon, and he has beat the odds in so many ways and has shown me how to be strong, how to try your hardest. I don’t know that I could go through all that he has gone through in his short little life. But I do know that I love him and wouldn’t change a thing about him, including the JS, because that is what makes him who he is. He is my hero!