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    SUPPORTING CHILDREN WITH CONGENITAL HEART DISEASE

    February 2012

     

    Tetralogy of Fallot (ToF) and 22q.11.2 deletion - Written by Isla's mum

     

    TetralogyI remember the first time I heard the words Tetralogy of Fallot , I had no idea what it was or what it meant and it was the beginning of a whole new vocabulary.  It was at my 20 week scan with my second child, Isla and it was when I entered the world of congenital heart defects.


    I would hear it  many times after that and would become a heart mummy who has an amazing knowledge of the heart, as I'm sure most heart families will agree you soon become an expert.


    Tetralogy of Fallot is a serious heart abnormality.


    *The pulmonary valve is narrow (pulmonary stenosis) and the muscle below it is thickened ( right ventricular hypertrophy)


    *There is a large hole -called a Ventricular Septal Defect, VSD - between the two main pumping chambers of the heart (the right and left ventricles).

     
    *Overriding aorta  ( the artery that carries oxygen-rich blood to the body) that is shifted over the right ventricle and VSD , instead of coming out only from the left ventricle.


    In the normal circulation, blood passes through the lungs to collect oxygen. In babies with Tetralogy of  Fallot, the narrowing in the pulmonary valve and the thickened muscle below it means that less blood can flow through to the lungs. This means that the level of oxygen in the blood is low.

     

    It was a very hard and worrying time with lots of extra scans to monitor Isla's heart. The  scans would monitor how narrow Isla's pulmonary valve was so that the doctors and nurses would be ready when Isla was born. Often  children with ToF can have Pulmonary atresia (the valve being virtually closed, closed completely or missing). This can cause a baby to be born appearing blue in skin colour (blue baby). As far as the doctors could see Isla's valve was there but narrow.  We learned new things every day about ToF, what it meant for Isla and how it may affect her, and a chromosome defect that was very common with ToF called 22q11.2 deletion.


    We decided that when Isla was born we would have her tested  for 22q11.2 deletion rather than have an amniocentesis test. It was later on in my pregnancy so there were higher risks to our unborn baby and we decided that it didn't make much difference to us what the outcome of the test was.

    22q11.2 deletion also known as DiGeorge syndrome & VCFS (velo cardio facial syndrome)  is a syndrome caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2 i.e., on the long arm of one of the pair of chromosomes 22, on region 1, band 1 , sub-band 2.

    The night before surgeryThe features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. Characteristic signs and symptoms may include birth defects such as congenital heart disease, defects in the palate, most commonly related to neuromuscular problems with closure (velo-pharyngeal insufficiency), learning disabilities, mild differences in facial features, and recurrent infections. Infections are common in children due to problems with the immune system's T-cell mediated response that in some patients is due to an absent or hypoplastic thymus. 22q11.2 deletion syndrome may be first spotted when an affected newborn has heart defects or convulsions from hypocalcemia due to malfunctioning parathyroid glands and low levels of parathyroid hormone (parathormone). Affected individuals may also have any other kind of birth defect including kidney abnormalities and significant feeding difficulties as babies. Disorders such as hypothyroidism and hypoparathyroidism or thrombocytopenia (low platelet levels), and psychiatric illnesses are common late-occurring features.

    Isla was born on the 25th march 2010, a PINK ToF heart warrior. My 1st surprise was that she was a girl I was adamant she was a he! My 2nd surprise was just how beautiful and "normal" she looked. I spent some time with her, then she was taken to the neo-natal with daddy following close behind her. My 3rd surprise was that Isla was doing well and after 1 night we were allowed to go home & take her to meet her big sister, Hazel.


    Isla  continued to do well and stay fairly healthy. We were very lucky and did not experience any TET spells. ( TET spells can cause rapid breathing, fainting/loss of consciousness , increasing blueness (cyanosis) of the lip. It can occur at any time, but tends to happen after a nap or after waking in the morning. They can also occur when the child is crying, feeding or after exercise.


    A TET spell occurs when there is a sudden tightening of the narrowed area below the pulmonary valve. The blood that normally goes out of the pulmonary artery to the lungs, goes out of the aorta to the body instead (through the VSD). This makes the child look blue or bluer (due to lack of oxygen in the blood).


    Isla had a wonderful nurse Chloe who came and saw us every week and checked Isla's saturation levels and heart rate. As the weeks went on Isla's saturation levels began to drop and the signs that surgery need to be soon began.

     

    Isla's open heart surgery took place on 15 th September 2010, a day we will never forget. Isla's surgery took over 6 hours, from when we left her asleep in theatre until we saw her again for the first time covered in tubes and monitors, the hardest thing I've ever had to see. It still to this day amazes me at how strong our heart children are, how well they cope & how quickly they recover. We spent 2 weeks in hospital with a couple of small blips, erratic heart rate & trouble feeding, mainly I think down to the fact Isla suffered badly with reflux. The Royal Brompton hospital were amazing and we can never thank them enough. 

     

     

    The 1st time we saw Isla after surgery

    4 weeks post op

    The 1st time we saw Isla after surgery 4 weeks post op

     

     

    It is now 16 months since surgery and Isla is an amazing strong independent little girl who is into everything. We are now concentrating on how 22q is affecting her. Isla has a possible cleft palate which  the doctors at Great Ormond Street are still unsure of exactly how serious this is and how it may affect her in the future. A problem that Isla has had since birth is drink & food coming out of her nose, which has definitely got better as she has got older, so we will keep an eye on this.   Isla is struggling with her speech but she has great understanding of what people are saying to her and will follow instructions and answer a question with either a head shake or nod and she  is now having speech and language therapy, which we hope will help and encourage her.  Isla also didn't walk until she was 18 months  however she crawled at the speed of light.  All of these things are common in children with 22q  but the same as with all children healthy or otherwise they are all different and do things at different times, mainly when they are ready!  22q.11 deletion has a wide array of problems and issues and appears to not affect any one person the same. 

     

     

    22q at the Zoo Max Appeal
    22q at the zoo Max appeal

     

     

    A great site for 22q is www.maxappeal.org.uk   It is fantastic, full of knowledge and helpful tips. They also helped  organise a great day called 22q at the zoo which we went to last year at London Zoo & met lots of great people and wonderful 22q children and are looking forward to it again this year. 22q at the zoo takes place in many zoos all over the world which is amazing for us 22q families. We are also looking forward to our first visit to the 22q clinic at Great Ormond Street hospital in April,  hopefully we can let you know how we get on.

     

    Isla XXX

     

    Isla xxx

     

     

     

     

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