The Most Common Rare Syndrome You've Never Heard Of

Sunday, November 2, 2014

My Son George-Sarah Eastaugh

Hi, my name is Sarah and I am from Essex, England. My sons name is George. He was born 3rd September 2013.

The pregnancy was uncomplicated, though I did find out at 34 weeks I had gestational diabetes.

George was born at 36 weeks, a healthy weight of 6lb 4oz’s, but he showed signs of distress right from the beginning.  Immediately after birth George was taken to the NICU. Further tests indicated he was having Apnoea’s and desaturations.  Treatment for those uncovered a heart murmur, and later Supravalvular Pulmonary Stenosis.  In total George was in the NICU for 11 days. 

Our time in NICU was hard. George is my first child--it wasn’t the start of parenthood that I had expected.

George’s time in the NICU was a tremendous struggle.  For starters the first week we were both in hospital for an infection, and I was on complete bed rest due to blood loss and low blood pressure. During that time I would spend the whole day sitting by his incubator just crying. My husband had to be strong for the both of us as this tore me apart. I would check his chart over and over for any change or setbacks and would feel like I had been punched if I saw the dreaded mark.  At the end of the week I was able to go home, which I had mixed emotions about. I knew I would eventually have to leave without him so wanted to be able to start that routine, but then of course I didn’t want to leave my son.

I spent 2 nights at home without him. After that he was put on a 24 hour breast feeding trial, which was a success.  I was then able to take my boy home. My family was complete.

Being at home with my son was amazing. Like many new-borns he slept a lot, and wasn't too fussed on milk. Little and often was just enough for him. And then when we moved onto bottles it was the same.

When George was 3 months old we had an appointment with the paediatrician. The appointment was straight forward.  He was happy with his progress, but the heart murmur was still there. This is when we were referred to the cardiologist. At this point we didn’t think anything of it.

When George was 4/5 months old we went to see the cardiologist. When the tests were completed and the results in the doctor dropped the bombshell – “‘your son has Supravalvur pulmonary stenosis and clearly has Noonan’s Syndrome”. My heart sank.......I didn’t know anything about this, and of course when I left I got straight onto Google, and then cried all the way home. My heart felt like it had been broken. My poor son. Why us? Why him?

We knew we were being referred to see a geneticist but I knew I had to do some research first, hoping to prepare myself beforehand.

I cried everyday for weeks. I felt liken my whole life had been taken away from me, and that my son already had a rough start in life. Why did he need another obstacle? It just wasn’t fair.

Our first geneticist appointment was at  9 months old. By this time we knew George had a slight developmental delay, but I truly believed it was because he slept so much. Again I wasn't prepared.

The Geneticist said she could see features of NS with George. His eyes, his ears, and then the slight delay. Bloods were taken and we were told that he was being tested for PTPN11, and the results would take 3 months.

In this time we had been referred to a group called, “ Portage”. They come to our house once a week for developmental play. George loves it!  And he really has come a long way from when he first started.

George has many friends the same age and younger whom he loves seeing, but I really struggle seeing them all together because it just highlights how delayed my son is, and then I have mixed emotions: jealousy, anger, and joy. I can honestly say that I am jealous of others, angry that it’s my son who has these issues, but then happy when I see how far my son has come. I speak to my friends when I have a bad day but sometimes I find the responses upsetting. I am told, “he’s fine, he’s perfect”, “he’s doing so well”, and “you need to just accept it”. But unless you are going through it yourself you don’t ever truly understand. I felt like I had lost the little boy that I was expecting, and then had to plan a life for the boy I had.

We are still playing the genetics waiting game as the results for PTPN11 came back negative.  His bloods have been re- sent for another panel of testing that will take until the end of the year. We are anxious for answers so we can do some future planning for him. We know that eventually he will need open heart surgery, but that is something I plan to push to the back of my mind until the appropriate time.

I still have days when I cry. George has just started physio. They come once a month and we have seen them twice. Although he is doing really well, I always cry after the session. My brain just ticks over and I think “he shouldn’t be having this" or "he shouldn't need this”, but then it’s like a flick and I think “but this is going to help him, this is going to get him to where he needs to be”.

At 14 months George is a healthy eater-- loves his food, he bum shuffles, commando crawls and is happy cruising around the sofas. His favourite word (only word) is dada, and he is my happy, beautiful boy who is my world– I just love him.

Having a child with Noonan’s has opened my eyes to disabilities, and not just what the child has to go through, but also the parents. It is a really lonely place. We have friends and family but being able to speak to those in the same boat is priceless, and for that I will be forever grateful.