BORN: 9TH December 2009

 

Holly Abigail was born in a critical condition.  She required instant resuscitation and had a machine to breath for her for the first 24 hours of her life.  She spent her first 2 weeks in the Special Care Baby Unit at Whiston Hospital receiving round the clock care. Despite the odds and after 3 platelet transfusions, Holly was discharged the day before Christmas Eve, the best Christmas present ever.

 

Doctors expected Holly to have either Cystic Fibrosis or Downs Syndrome after she was found to have an Echogenic Bowel during the 20 week Ultrasound Scan. She was tested for both of these conditions and they came back negative.  She did have two holes in her heart. The VSD closed by itself, however a surgical procedure attempt to close the ASD failed. Holly was due to have more heart surgery but at a cardiac appointment in August 2014, the ASD had, within 6 months closed considerably by itself to the disbelief of her surgeon.

 

At 6 weeks of age Holly was diagnosed with Spina Bifida and had Tethered Cord Syndrome, which was successfully operated on in September 2010.

 

At 3 months of age Holly stopped breathing. Her consultant referred her to Genetics to see if they could find out what was going on. After an anxious 8 week wait, Holly was diagnosed with Trisomy 9 Mosaic (T9M), when she was nearly 6 months old. The Genetics Consultant said that she has never met nor diagnosed anyone with the condition and the only information she had was what she found on the internet, which was very limited. We were told that she may not see her second birthday and she will probably never walk or talk due to Gross Development Delay. After weeks of research into this condition it was discovered that there have been less that 30 people diagnosed globally and babies who have T9M do not usually survive pregnancy let alone birth! We have since found a few more.

 

In November 2011 it was discovered after a Video Fluoroscopy that Holly was ‘Aspirating’, basically her food and drink were going into her lungs as opposed to her stomach.  This shocked the specialists as she showed no external signs, for example, chocking and coughing. Holly is now fed via a tube into her stomach, a Mic-Key button. After another video fluoroscopy Holly’s neurologically developed enough and can now eat orally from August 2014, although all fluids are still given to her via tubes.

 

In April 2013 a Barium Scan showed Holly had Malrotation and Non Rotation of her intestines, a potentially life threatening condition therefore in August 2013 she underwent lifesaving surgery.  She spent a week in hospital and recovered quickly and always with a smile on her face.

 

In February 2014, Holly was diagnosed with Scoliosis, curvature of her spine, which will be monitored closely.

 

Holly has a compromised immune system which causes her to pick up any viruses and infections very easily, this can be very hard on her during the winter months as she rarely has a full week in nursery due to her fighting off illnesses.

 

All of the doctors, specialists, consultants and medical staff in Alder Hey and in the Community have very little knowledge of T9M as it is so rare; therefore, they are unable to answer any questions.  No one knows what the future holds for Holly, therefore, we live on a day to day basis. All we know is that with your support we can make positive changes in Holly’s home that will enable her to live a more comfortable life just like everyone else, things we take for granted, things she will never normally achieve and raise awareness of this condition.

 

The Trisomy 9 Mosaic Trust has been set up in honour of Holly to support families living with T9M and other rare chromosome conditions in the UK. It offers emotional and practical support and helps newly diagnosed families from feeling so isolated.

 

THANK YOU FOR YOUR SUPPORT