Katie Thorstenson--My New Normal

November 7^th, 2011… and I remember it like it was yesterday.  This marks a day that by far was one of the most heart wrenching moments in my life and never before did I ever feel that time just stopped and everything else was moving in slow motion.  Before this date, I honestly didn’t invest much thought into this genetic test because I never thought for a minute something would be “wrong.”  Selfishly, I opted for this test because it was another chance for me to see my beautiful child live on screen…. Little did I even think of what could possibly be wrong…. It couldn’t…. I mean why would it????

We were brought back into the ultrasound room.  I was so anxious and excited to see my little one moving around.  As I laid back on the table, the technician began the ultrasound.  It was honestly surreal to see Jake’s little brother/sister kicking away.  She began to point out different parts of my little one’s body and it was pure joy….. Then, she pointed out what she referred to as a “halo.”  I explicitly remember her saying….  Do you see this????  Foolish me… in the most excited and pure way says YEAHHHH… thinking it was something fun… she then follows up by saying… this shouldn’t be here…. This is fatal…  It was in that moment that time stopped… What do you mean it shouldn’t be there…  Fatal… WHAT????  What does that even mean….   I can still remember that cool feeling take over my body and I am about ready to pass out….  The technician quickly escaped the room to go get the doctor and I began to wail.  I couldn’t do anything but sob…  I had waited for another baby for what seemed like an eternity and after a couple years of trying with a miscarriage… WHY ME???  WHY AGAIN??? 

The time following this a doctor sat us in a consultation room and everything that came out of his mouth seemed so foreign to me at the time.  It was a lot of genetic talks about chromosomes and cystic hygromas, fluid, etc….  Basically, at this point the diagnosis was that my unborn child had a large cystic hygroma developing at the base of his brain.  They described this as often times due to a chromosomal problem and they strongly advised that we do a CVS testing to confirm this finding.  I was heartbroken… My heart had been shattered into thousands of pieces and I didn’t even know how to pick them up.  The suggestions they made to me at the time were absolutely terrifying… 

The next week was a blur.  I was immediately taken in for a CVS testing which would confirm the findings if there was a chromosome abnormality.  I immediately got the FISH results that proved their initial theory wrong… My child didn’t have any chromosome abnormalities….  I waited for the full panel and also showed no abnormalities….  At this point it was when I decided I will leave this in God’s hands.  They had given my child a 5% chance to make it to the 20 week ultrasound….  It was also at this time I decided to find out if it were a boy or a girl…. 

This was the happiest news I had been given to date….  A boy!!!!!!!!!  Drew Michael Thorstenson….  How wonderful did that sound.  I now knew who I was fighting for… A little brother for Jake to love… Another boy to fill this house with his muddy feet… I couldn’t wait!!!!  This little boy was going to be a fighter….

The weeks that followed this time period were grueling… Every day I wondered if I would be able to carry him to term.  If it wasn’t a chromosome abnormality… What was it???  Was it nothing…. Were we all worried for nothing…  The ultrasounds that followed… 14 weeks… 16 weeks…18 weeks…. All were showing a resolving cystic hygroma… It got to the point that it was almost non-existent….  In the meantime… we did opt for a full panel of genetic testing including a test for Noonan’s Syndrome….  Each week… the news kept getting better… It was the day I turned 19 weeks that I received a phone call from the genetic counselors department to change my appointment to another hospital… It was at that point… the last test we were waiting on… I knew it from the minute I heard them on the other line…. My suspicions were confirmed moments later… My baby boy had Noonan’s Syndrome…  I was a wreck again.. The emotional roller coaster that I had been on for 2 months… The ups and downs… Everything again came crashing down…. I felt weak again…. And crushed….

This was the day that forever my life changed…. I was not going to give up on my baby… He deserved every chance and I swore to myself I would become his advocate and learn everything I could about this syndrome so he could have the best chance at anything life wants to throw his way.  I studied…. And hard…. I found every support group that the social media had to offer… I found an amazing community online on Facebook that I will be forever grateful for… I found this special network who was nothing but completely supportive of my situation and sharing stories of their kiddos and some adults and seeing this world I was about to come into.  I would be lying to say I wasn’t scared but if there was one thing I was…it was prepared….  Everybody always uses the word… “normal…” I suppose I don’t like the use of that word anymore… What is “normal.?” I certainly am not “normal…”  And it was then when I coined my favorite phrase… This is my “new normal,” and I was going to embrace the last of this pregnancy with nothing but smiles and anticipation for my beautiful son Drew Michael to enter into this crazy and wonderful world….. He had defied all odds up until this point… He had something to prove… and I couldn’t have been more proud that God chose me as his mommy….. This little being had already changed me…. In ways at the time I couldn’t even begin to comprehend…. And I was excited… Sooo excited….

Part 2

Finding the inner strength you never realized you had…. 

The time was finally upon us… The anticipation of carrying a child with a syndrome that you can’t quite yet grasp was undeniably difficult.  The spectrum for Noonan Syndrome is so large that you truly are unaware of how your child will be affected and there are times that the unknown is a scary place. But with the support and friendships that I had already built proved invaluable….  And truth be told, as I mentioned in Part 1… We chose this…. We left it up to our faith and God who chose us to be this little guy’s mom and dad and that was a deliberate action and I now get it… I might not have at the time, but gosh do I understand why we were chosen NOW!!!!  Our life was forever changed by this amazing little boy who has so much fight, and is such a strong and inspirational little boy. 

I was scheduled for an induction on May 21^st, 2012 with the understanding that I would likely give birth to our baby boy sometime on the 22^nd. It was such a special day because this is also my mother’s birthday.  My mom is my best friend and I feel so lucky that Drew shares this day with her.  After some long, tortuous hours, it was finally time to have our baby….  Drew Michael Thorstenson was born at 7:20PM…  Shortly thereafter, I went into a state of shock…. All I wanted was to hear him cry and I was so consumed by the emotional roller coaster that we had already been on… I just remember everything flashing by and the anxiety that I had as he was being whisked away by the doctors and nurses. It was one of the most terrifying experiences I had ever encountered…. For fear that I will sound shallow, I was worried as to what he would look like, but more importantly is his heart okay because 80% of Noonan’s kiddos have congenital heart defects.  There was so much emotion built up to this moment I couldn’t even process anything…. I was honestly the most scared I have ever been.  Can I handle this???  Will I be able to tend to his special needs??  So many thoughts and questions that seem so silly now but at the time were so raw and real.

After several hours of recovering I finally was taken in to my recovery room.  Drew Michael was brought in to our room and I just remember gazing into those sweet precious baby blue eyes. I was consumed with pure love and joy and if there was a second I questioned anything, it was that moment that reaffirmed everything.  After some extensive testing, we were surprisingly released from the hospital the normal 2 days later.  His ECG had shown some mild pulmonary stenosis and also an ASD that would be closely monitored by the Lurie Children’s cardiac department and other than that, we were blessed with a wonderful little boy. 

The first few weeks were certainly tough and extremely frustrating from an eating standpoint.  While Drew was born 8lbs 11 oz… he wasn’t in any way shape or form gaining any weight.  Noonan’s kiddos have a tendency to have FTT (Failure to Thrive).  While we understood this a little, it definitely didn’t make us feel that much better.  We really wanted to figure out a way to help him as best as we could. 

It was during a routine ECG when Drew was 2 months old that will forever be etched in my memory.  My sister in law Jackie joined me as these appointments can be quite long. She was there for much needed support to keep me sane.  The appointment was unusually long.  During the ECG the technician saw what appeared to be fluid surrounding Drew’s lungs….  I remember vividly the doctor asking if he had been sick, or anything unusual.  He absolutely wasn’t sick but as a precaution Drew was sent to get a chest x-ray.  Once we did the chest x-ray we went back into our room to wait.  Later the doctor came in to let us know that the preliminary results were negative for plural effusion and pneumonia.  She sent us on our way. It seemed to be a lot of anxiety for nothing. 

While it was a long and emotional appointment, I was glad to have my sister with me and we left the hospital to go hang out with Jakester and my niece and nephew, enjoying the last parts of summer vacation before I had to go back to work…I can remember it like it was yesterday…. My phone rang while I was waiting in the parking lot at Jewel while Jackie ran into grab a few things…. It was Drew’s cardiologist.  The words that came out next seemed like a bad dream… She began to say that I don’t know how to say this but the preliminary findings on Drew’s chest X-ray were incorrect.  We believe that he has a small plural effusion surrounding his lung and we need to admit him immediately down to Lurie Children’s hospital.  TIME STOOD STILL!!!  I hung up and the waterworks began like never before.  I broke down in tears in frustration and just pure anger that this went misdiagnosed… That my emotional state was being tested yet once again…. When my sister in law came back to the car, I don’t believe she knew what could have possibly happened.  I was so distraught and trying to explain to her that there is something seriously wrong with my baby… WHY is this happening????  How could the radiologist miss this???  It all didn’t add up and I was just so incredibly sad and felt so defeated…  I was crushed… 

I composed myself and went back to the hospital to be transported via ambulance down to a place that I had only seen in a magazine, “Lurie Children’s hospital.” They had opened these new doors a little over a month before the date that Drew was admitted…  It was July 24, 2012.  It blows my mind on how my story had just begun the minute that we were rushed into this place…..

This place has forever changed my family and I and has played an instrumental piece in this puzzle I call life….   Stay tuned for Drew’s unexpected roller coaster ride in the third and final Part 3 of our New Normal….

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.

Cyndy Hartman--Struggles With Behavior Issues and Noonan Syndrome

After my husband and I were married our discussions were frequently about children and how we would raise and discipline them.  When we were out and about, we would comment to each other on other peoples parenting styles and how their children were behaving…good or bad.  We had a clear cut image in our heads of how we were going to parent and discipline our children and how they would be model citizens and be courteous and well-behaved in public.

That all changed when we had our first son, Austin, in 1998.  He was intelligent and funny but he was also so energetic and defiant that it became difficult to manage him.  In the years since his birth he has been diagnosed with Asperger’s Syndrome, Sensory Processing Disorder, ADHD, Anxiety, OCD and Tourette’s syndrome.  Our world became very different.

In 2004, we began another new and difficult journey as we had our second son, Blake.  It would not be until he was almost four years old and many health and behavior issues later that we found out that he also had ADHD, OCD, Sensory Processing Disorder and Tourette’s syndrome, however he also something called Noonan Syndrome.

Behavior issues are very common with Noonan Syndrome and by the age of two, Blake’s behaviors were out of control.  We had high locks and chimes placed on all of our doors as he became an escape artist.  There was nothing worse than waking up from a dead sleep to hear the front door chime at 6:00 am, knowing that it was Blake opening the front door making a beeline for the street.  The majority of the time, he was able to make it all the way to the street before I could catch up to him, which was terrifying.  It was difficult to have my boys run away from me in the store or to decide to have a melt down because I told them they couldn’t have a toy.  It was even harder to become the epitome of the “bad parents” we had always discussed in our conversations of how our children would not behave!

The “normal” world that we had envisioned pre-parenthood has now changed to a world of experience, patience and understanding.  We no longer pass judgment on other parents because they may just have a child with behavior issues not bad parenting.  I can’t count the number of times I have had to leave groceries in the store, have packages unsent, errands not finished because my boys could not handle the sensory overload that day. I can’t count the number of times that I have had one or both of my sons have a meltdown in the checkout line and proceed to hit and kick me, bite me and call me names in front of anyone that is willing to watch.

Out of all the mental health and medical issues that my son’s have, I would have to say that the most difficult issue to deal with is the behavior issues that are associated with Noonan Syndrome.  We are currently going to be ordering the fifth pair of eye glasses (in less than a year) for Blake because he has broken all of his other pairs into pieces during melt downs.  We always have to find a fine balance with all of his medications and have to be careful not to give them too early, too late, or forget to give them at all so that we can try and avoid a meltdown.  It’s hard to fathom that even after all of these years, I have not gotten used to the glares, stares and comments from other people because they do not understanding the situation and judge us as parents.  I do have to admit that I still get embarrassed at times because of this too.

It is very stressful to me as a parent to always be on guard, to get ready for the next behavior issue that is coming and to prepare emotionally to go through yet another meltdown without having one yourself.  Somehow I manage (most of the time) because I know they can’t help it and it is my job as their parent to do my best for them.  So I will do it over and over again, as long as they need me to, because they are my children.  I love who they are and despite all of the ups and downs of the behaviors we deal with, I would not change anything about either one of them.





Cyndy has been married to her husband doug for 17 years. She has two sons, Austin (15) and Blake (9). She works full time but in her spare time she enjoys camping, hiking,  painting, arts and crafts, sewing and spending time with her family.

For more information on possible complications with Noonan Syndrome see Noonan Abstract.

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--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.

Lynda Robinson---Rough Beginnings (1)

        I was married to my husband for a few years and although our marriage was a stormy one, we were taking care of our first born son Lee together.  I had suffered an ectopic pregnancy before getting pregnant with Lee. Dr’s weren't sure if I would be able to have any children as I had lost one of my Fallopian tubes and they could not tell whether my other tube was OK or not. We were really lucky to have our first born miracle. Then when Lee was eight months old I had a miscarriage. Just more stress to add to the already worrying Mum whose biological clock was ticking as I was already 31 years old. I wanted so much to have a sibling for Lee. On April fool’s day 1993 I found out that I was pregnant, so I got my wish and I was over the moon. Pity my husband didn't feel the same way. This only put more strain on our marriage and my husband caused huge arguments about not being able to afford another baby. For the following few months our marriage became really strained and my health wasn't good. I worried about my unborn child and the thoughts that were going through my head were not good. I was scared that I wouldn't be able to bond with my baby, but for now I couldn't do anything but try and see if I could  salvage what was left of our marriage. I had to make a decision; after all I was responsible for my baby boys’ happiness, my unborn child’s health, and also my own well being. I was going to have the baby no matter what..

 When I was four and a half months pregnant my husband woke up one morning and told me that he just wanted to be a part time dad. I knew things were bad but I never knew that he felt that way, and of course I only wanted what was best for all concerned, so I agreed to the split and he began to pack his bags. It was devastating to think that he didn't want to be a family any more, but I wasn't going to beg him to stay. I needed to be sensible, so I told myself that things were going to be alright-- after all my kids needed me. Life had to go on. Life as a single parent was difficult and daunting but I was so lucky that I had the support from my parents, sisters and a few good friends.

The pregnancy had its ups and downs having recurring chest and kidney infections --I seemed to be on antibiotics forever. Then late into the pregnancy I was diagnosed with asthma and was given inhalers. At 7 and a half months into the pregnancy, on one of my routine clinics, bloods were drawn.  The results:I had protein in my urine, my blood pressure was high and I had the most horrible headaches. These were some signs of pre- eclampsia and my consultant wanted me to be admitted ASAP. After my appointment I went home to settle Lee with one of his aunts and collect my bag. I had no choice but to let my family share the responsibility of my little man for a while as I didn't know what lay ahead with the little one who was kicking inside me and causing so much disruption. As the next few days passed I was becoming sicker. My head was pounding and some tests were showing that my kidneys were not functioning properly so I was sent to another hospital that had more up to date scanning equipment. There detailed scans of my kidneys were carried out and it showed that my baby was lying on them but they could not tell if there was going to be any permanent damage. They also revealed that I was going to have a wee boy, but for now I had to keep the surprise of gender to myself.  As long as he was healthy that was the main thing, or so I thought.

On the morning rounds a Dr whom I had never met before told me that I would be staying until my due date, which was 6 weeks away. Oh! Boy I was not a happy bunny. No way, I couldn't believe what I was hearing. I called my Mum with tears running down my face and talking through the sobs. She tried so hard to calm me down but nope I was frustrated and angry, after all I could not eat as there just wasn't room anymore. I was crunching ice cubes and I was in a lot of pain. I couldn't even put a sheet over my legs as I was leaking fluid from my pores when pressure was applied. While on the phone my consultant popped his head round the corner and waved me over. He then asked me did I want to have my baby in my arms tomorrow.  Yes please I said, I was nervous but excited.

On the 26^th October 1993 my labour was induced. My water broke . I was advised to have an epidural as my blood pressure was high and they would be able to have more control over it. My labour lasted 6hrs 13 minutes and at last my second miracle entered the world. My Mum was with me every step of the way and we both got such a shock when we looked at my baby boy. He was blue, filled with fluid and was struggling to breathe. In fact he looked just like his last scan photo that was taken only a week before. After a quick cuddle he was whisked away so that the staff could clear his airways. I didn't hear him cry so I knew that things weren't good and I began to worry. A few minutes later they asked me if he had a name yet before taking him to SCBU. I named him Connor John Robinson. He weighed 7lbs 3ozs which was remarkable for being six weeks early.  My Mum went with him to SCBU and on her return I must have scared the living daylights out of her as I had my very first asthma attack as she walked through the door. Staffs were good and managed to control my attack, but I had lost about four units of blood so I needed a blood transfusion and had to stay in intensive care. I couldn't believe that he had arrived and I was one happy and proud Mummy. During the night a Pediatric Dr came to tell me that Connor had been moved to Intensive care and was in an incubator and that he was being given fluids and antibiotics through an IV drip.  

AUTHOR

Lynda lives in Scotland. Lynda is a full time caregiver to her son, Connor and her older son Lee who was diagnosed with Schizoaffective Disorder at the age of 15. Lynda says she keeps her sanity by studying at a college or adult community centre, performing voluntary work. She likes to spend her free time drawing, painting or writing poetry. She has had two of her poems published.  Lynda remarks, “I have survived I think because I have a very close knit family and they have always supported me through the difficult times. They are my rock.”  Because of this her boys have a close knit relationship with their grandparents.

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.