The Most Common Rare Syndrome You've Never Heard Of

Friday, March 27, 2015

Twins--and Then Colton by Amanda Brown

We were done. We had 18 month old twins and we had been assured that we would never conceive on our own. We were okay with that. We had made the decision to "chance it." We understood that it was highly unlikely that it would ever happen but we wanted to just let God make that decision for us. I took my last pill on 10/31. I took a pregnancy test on 12/11 and found out that our fighter was on the way. What a welcomed surprise!

We had no intention of finding out if the baby was a boy or a girl. We wanted to wait and find out when he/she arrived. But just like before, this was going to be done how Colton wanted it to be done. At my 18 week ultrasound, as she put the probe on my growing belly there it was....his boy parts displayed for all in the room to see. She knew that we didn't want to know, however this was all little man's doing. It was also at this ultrasound that we found out that he had a thickened neuchal fold. She told us that more than likely he would have Down Syndrome, or a sever heart defect. I didn't believe her. We had the amniocentesis only to find out that it was not Downs. They did a fetal echo and told me it was normal, and fluid on one his kidneys but it was within normal by the recheck. At 32 weeks I was told there was nothing wrong with the baby and was sent out to enjoy the rest of my pregnancy.

I am a critical care nurse, so I like to think that I have it together about the human body. But when this guy was born I was oblivious to the problems. The day after he was born the pediatrician noticed he had low set ears, a wide nasal fold, wide nipples,one undescended testical, and a heart murmur. She told me she thought he had this genetic disorder called Noonans Syndrome. 

I thought the pediatrician was crazy. I've been a nurse for 10 years and have never heard of that, and besides my baby didn't have all those things she saw....did he?

Fast forward 4 months and a failure to thrive diagnosis. What does that mean anyway? He eats fine, sleeps fine, etc. Once again they must be crazy. I told them they could do their little genetic testing but we also need to get back to the basics. Maybe he was just allergic to milk.  Testing revealed he was. I cut all dairy out of my diet, and still he didn't grow. Hmmm maybe they were on to something after all, and its just me that couldn't  see it? Eight weeks later genetic testing confirmed PTPN11. Finally a reason for all the "issues"-- we can move forward and fix them.

He had myeloproliferative disease that resolved at 11 months. The fluid on his kidney that resolved at birth. He never ate a lot but we were able to skate around a feeding tube somehow. (I think he went an entire year only eating green greek yogurt, chocolate donuts and whole chocolate milk! But hey calories are calories right?) He had a 6mm VSD at birth that resolved, a 8mm ASD that had closed to a 3mm PFO. However last Cardiology check said it was now two ASD's with one being 8.9mm and one at 6.8mm, so we will have to fix that eventually. His pulmonary valve is just now stenotic, so they will fix that at the same time. (He needs to be 50lbs, which he may never hit).

We started on GHT at 18 months old. I have never regretted this decision. My theory is that when it comes to growth there are no take backs. You can't take back the years of delayed growth, and I didn't want him coming to me at 14 years old asking me why I didn't start sooner. However, in the same instance, if he comes to me at 14 and decides to stop then that is his decision, and Ill be ok with that.

He is our 'funny guy"! He keeps us on our toes, and is the jokester of our family. He really is the perfect addition to our duo. While I would not change anything about him, I am glad he was our little "surprise" in every way. I can honestly say I never expected this.......