Lynda Robinson--Handsome Young Man (3)

Connor has had 16 surgeries over the years. He had four eye ops because he had squints in both eyes and his surgeon didn’t know which muscles were responsible for controlling the movement of his eyes. He has had four Botox injections into the left eye as surgery was no longer an option. He has astigmatism so wears glasses. At age 4 he had a hernia and testis- repair done, he went on to have his tonsils out and a few sinus flushes because of the recurring throat and sinuses infections. At age 14 he had to have 7 teeth removed because of overcrowding and because he didn’t want to wear braces. His last surgery was when he was 18, though he hadn’t been well for a long time. He was constantly complaining that his tummy was hurting and he would vomit continually. Many times the GP would fob him off by telling him that he had a bug. He couldn’t stand it any longer and he got very sick, so bad that he had to be taken to hospital by ambulance. He was in hospital put on an IV as he couldn’t hold even a sip of water down. Scans were carried out and they showed that he had an inflamed gallbladder and some stones, but they could not operate until the inflammation and infection had gone. He stayed in hospital for a week and was sent home with strong a pain reliever until his surgery was scheduled. On the 23^rd December 2011 we got a call to say that there was a cancellation for surgery and asked was he able to go in?    

There was a complication with his gallbladder surgery though we were never told exactly what it was but it was worrying to think that something was not right. Connor was allowed home on Christmas Eve but I wasn’t sure that he was ready. He still hadn’t passed any urine and was in an awful lot of pain. Early on Christmas morning he had to be readmitted to have a catheter inserted. His bladder had went into shock and it would take some time to get back to normal so until then he would have to stay in hospital. He wasn’t happy as he didn’t get to have Christmas dinner. It was never easy to watch my baby in so much pain for whatever the reason and Connor has had his fair share of struggles but he has always got there with help and support from all that is involved in his life. He has always got there in his own time.

Connor has checked out ptosis surgery but has decided no more surgery as it involves transplanting bone from his thigh to transplant onto his cheek bones as his are flat. He’s had enough and unless it’s life threatening then wants to be left alone. He still struggles every day but he is my brave soldier, I admire how strong and courageous he has been and I wouldn’t change him for the world.

Connor suffers with so many conditions that affect him on a daily basis. He has contractures of both elbows that seem to be getting worse over time. He has scoliosis in his spine and his muscles in his legs have become so tight that he is in constant pain. He is very sensitive to so many meds that he now has to use a pain patch.  

When I was first told that he wouldn’t see his 1^st Birthday I told myself that I would love him, fight and support him every minute that God blessed me with him. That was 19 years ago. Connor struggled through mainstream school despite the support that I had fought so hard for already being in place. His High school didn’t honour his statement or IEP. Connor was bullied at school so he developed low self-esteem. He has spent years on and off seeing a clinical psychologist and doing CBT. He did have a lot of time off school because of all the hospital, Dr and therapist appointments. When he was 9yrs old things got so bad at his first Primary school that I had no other option but to move him to another primary to continue his education in mainstream school. He came on leaps and bounds, the classes were smaller and the classroom was a closed class which was a lot better, fewer distractions. I wasn’t sure how he would cope at High School but I was determined to make sure that he would get all the help and support that he needed. Despite Connor having dyslexia and Mearse Irlin syndrome, it didn’t stop him though; he passed all of his exams and went on to do Business at college. He has just completed his HNC in Business this year and will graduate at the end of this year.

         Just when we thought Connor was finished being diagnosed he was given a diagnosis of ADHD, Absence Seizures and his gene mutation was identified as NS SOS1 gene. Connor’s health hadn’t been good so we had an appointment again with Dr T the geneticist and he was given another diagnosis of Cardio facio cutaneous (CFC) syndrome. It was like fitting all the pieces of the puzzle together and we began to understand why Connor had all the unusual things wrong with him, but it didn’t matter for me as we had always lived one day at a time. He has taught me so much through the years and I am so proud to be his Mum.

     He has overcome so many obstacles in his life but has always been determined to do and succeed in whatever he puts his mind to. Who would ever have thought that he would defy all odds and achieve so much? I used to worry about his future and what it would hold for him but he is just like any other teenager trying to do what teenagers do and I do believe he has been given life for a reason.

Raising my boys has been a difficult journey and I have got to meet so many lovely people. It has made me appreciate not only our close family but also our extended family.

DISCLAIMER:

The article above was written by a guest blogger. The opinions and ideas written belong solely to the guest blogger. The RASopathies Foundation and Noonan Syndrome Foundation DO NOT endorse political candidates and religion or religious preferences.

This blog is provided for moral support purposes only. This blog is not a substitute in any way for medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have learned from this blog.

The Foundation's do not recommend or endorse any specific tests, treatments, physicians, products, procedures, opinions or other information that may be mentioned in this blog. Reliance on any information provided by the Foundation, Foundation volunteers, staff or guest blogger/s is solely at your own risk. You should not rely on information you receive from or through the blog for any personal, medical or health decision, but should consult with a qualified professional for specific information suited to your family member’s case.

Lynda Robinson--Connors' Story (2)

Mystery 

The following day I couldn’t wait to see my baby boy but it wasn’t good news as I stood there watching the monitors, beeping of the alarms, and the needles and tubes that were in my wee man’s hand? The good news was that he was breathing his own air. I dreaded going to SCBU as there seemed to be something else that was going wrong with my precious baby boy. The consultant that was dealing with Connor had come to tell me that he had a heart murmur but that hopefully it was just because he was premature and that it would resolve its self. As the days passed he was not getting any better. He had a large liver, kidney and spleen. He was being fed by a NG tube, and he would no sooner be fed when he would vomit. Dr’s weren’t sure what was going on with him and many tests were carried out. He was low on potassium and needed a supplement. He wasn’t making any improvement and on many occasions he gave everyone a fright. As I walked into SCBU the nurse that had been looking after Connor came to give me the usual update. Looking at his chart there seemed to be a lot written. The nurse had told me that through the night Connor had stopped breathing many times and that he was having sleep apnoea. They couldn’t say for sure what was going on but had noticed that his liver was measuring 6cms when it shouldn’t have measured anything at all and that they wanted to do a liver biopsy. I was devastated and all sorts of thoughts were going through my mind, was he going to die? He certainly had all the Dr’s baffled and for three weeks after all negative tests results had returned. I said to his consultant that I wanted my baby boy to be moved to Children’s Yorkhill Hospital in Glasgow.

 It was arranged for us both to go to Yorkhill the next day. We were there for a week during which scans and x rays were carried out on his liver, heart and kidney. His heart had two holes in it and his pulmonary valve was thick. His liver and left kidney was still enlarged.  He had a visit from one of the leading geneticists Dr Stevenson. He and his colleagues examined Connor closely but he didn’t talk to me and I could feel myself becoming really anxious, I wanted so much to know what was going on with my baby. The next day as I was preparing to get ready for the move back to our local maternity hospital, a young Dr came to have a chat with me. She started to tell me about what they had found, my stomach was doing somersaults and then I heard Noonan Syndrome and that it was the next one to Down syndrome. I had never heard of it. She began by telling me that he has all the clinical signs which consist of low set ears, rotated ear lobes, eyes too far apart, wide spaced nipples, a concave breastbone, heart problem, eating problem, large liver and kidney. As she spoke I wanted so much to cry and I had so many questions but couldn’t find the words to say. I couldn’t take it in and oh! How I needed my Mum right now.

Being with Connor had been good after all he only had me to support him. His dad didn’t want to know and to be honest he wouldn’t have been any support to me. My emotions were all over the place and I was missing my 1^st born miracle Lee. I couldn’t even be with him on his 2^nd birthday and it was tearing me apart. There wasn’t any clear date of when I was getting my baby home for good so for now I would just have to be patient. I have learned to be more patient over time.

 We arrived back at our local hospital and Connor was settled back into SCBU. I had been discharged so I went to stay with my parents as they were looking after Lee. Oh! I had missed him so much and I needed to bridge the bond that I felt had been split. I visited Connor every day to take over his care for the next few weeks. He was still being fed by a NG tube and one day when I walked in I was asked did I want to take my baby boy home but in order to do so I had to learn to replace his tube. I was told to take him home, love him as they were not expecting him to see his first birthday. 

Going Home

I learned to replace his NG tube which I grew to hate and stayed in the family room to take over his care full time. While I was there an eye specialist came to see Connor. He did explain what he would be doing to his eyes and gave me the option to leave the room or stay, I chose to stay. He proceeded to place a clamp on my baby’s eye, it wasn’t nice to watch or hear as my wee lamb was screaming. Dr G was checking for bleeds as Connor had blown blood vessels in both eyes and they didn’t look like they were getting any better. The tests were over and he was given the all clear to go home. I was excited at the prospect of being home and being Mum to both miracles, but for now I had to stay another night and after all he had been there for seven weeks and they wanted to make sure I could cope.

Connors Journey

Mum and Dad invited the three of us to stay with them until I got on my feet and because it was just a few weeks until Christmas, they didn’t want me to be on my own.  My baby boy was losing weight fast and was projectile vomiting after every feed. He slept through feeds and I was getting really worried. Then one day as I looked at his legs, from the knee down to his toes were a very deep purple, by luck we had an appointment with his Paediatric consultant later that day. I was told that he would need a cauterization done to see what was going on with his heart, news that I wasn’t prepared for.  It was scheduled for the following week at Yorkhill hospital. The day of his surgery came and all sorts of thoughts were going through my head. As I carried him into the Operating Theatre and kissed him before putting his life in the surgeon’s hands, my emotions were all over the place and I thought the worst. Little did I know that our journey had only begun?

  I waited anxiously for my wee miracle to return to the ward. The relief that I felt when I saw him being wheeled towards me down the corridor. Again he looked so helpless attached to wires and monitors. My baby had pulmonary valve stenosis an ASD and a VSD. He would need heart surgery before the age of 4. For now he would be monitored closely by the cardiologist, but his valve had been stretched to allow his heart to function better.

Connor’s first year was a difficult one. He didn’t meet any of his milestones on time and his immune system was so low that he seemed always to have an infection or virus. He was still being tube fed and wouldn’t tolerate solid food at all. He would gag at the thought of solids. Vomiting was a huge problem and he was still losing weight. He was diagnosed as failure to thrive but still no one knew why. 

Diagnosis

At 17mths Connor got a clinical diagnosis of NS. I wasn’t sure how I felt as I had watched my wee man go through some horrific tests, but now at least he had a name to his difficulties, maybe I could plan for our future. After all I had been blessed with two beautiful miracles and I knew that my life had been changed for ever. Raising my two special boys was difficult but I was up for the challenge. My emotions were flying high but every little achievement that my boys made let me see how blessed I was and that the hard work and sacrifice was well worth it. Our schedule was hectic as Connor seemed to have lots of different hospital and therapist appointments, not to mention visits from health visitors or nurses. I had never felt so isolated and I had thought the worst about whether my baby boy would be with us for long, I couldn’t stop worrying about what the future held for my boy but for now all I could do was take one day at a time and thank God for every precious moment that I spent with Connor.  Life with my boys was busy but I took things in my stride. There were times that I wanted to have a little bit of my life back and just as I thought it would happen Connor would be referred to another clinic. More appointments and time spent worrying about upcoming surgeries, not something that I was comfortable with but could not escape. For now I had to pray and hope that the surgery went well. His bowel was the first op, my poor baby was always constipated and it broke my heart to watch him squirming and screaming in pain when he needed to go. He was on Senna and Lactulose but they didn’t seem to work and Connor would only have a bm every three weeks so he was having an anal stretch done. 

DISCLAIMER:

The article above was written by a guest blogger. The opinions and ideas written belong solely to the guest blogger. The RASopathies Foundation and Noonan Syndrome Foundation DO NOT endorse political candidates and religion or religious preferences.

This blog is provided for moral support purposes only. This blog is not a substitute in any way for medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have learned from this blog.

The Foundation's do not recommend or endorse any specific tests, treatments, physicians, products, procedures, opinions or other information that may be mentioned in this blog. Reliance on any information provided by the Foundation, Foundation volunteers, staff or guest blogger/s is solely at your own risk. You should not rely on information you receive from or through the blog for any personal, medical or health decision, but should consult with a qualified professional for specific information suited to your family member’s case.