Ivy'v Story What care and support is available for those with deletion 22q11 syndrome?


Adam

Make a Donation

Find Max Appeal on Facebook

Join Max Appeal

Leah

'A blood test was all that was needed to give us the answers we had wanted for ten years.'

Image: leah_2004_medium.jpgIt has been a long and frustrating road to reach a diagnosis of 22q 11 for seventeen year old Leah. For over a decade Leah has battled illness and struggled through both school and day to day life not knowing why. All it took was a blood test by a new Paediatrician (when Leah was nearly 12 years old) to reveal her condition. The final diagnosis revealed another shock for the family when Leah's mother Sarah was also diagnosed 22q 11 at the age 50.
Returning home with a new born baby can be daunting for any parent but the first few weeks with Leah were particularly difficult for Sarah and Christopher. During the first six weeks a doctor was called as Leah had breathing problems and was not sleeping or eating well. The doctor was not overly concerned and told Sarah not to worry.
The shock came when Leah was six weeks old and twice stopped breathing while she was in Sarah's arms. She was rushed to hospital and later referred to Great Ormond Street Hospital where they discovered a hole in her heart. Fortunately it was small enough to not need surgery.

During the first three years of Leah's life she had numerous ear, chest and urine infections. The first time concerns were raised about Leah was at the start of primary school. She was referred for speech and language therapy. At one point a speech therapist suggested that her tongue was too big for her mouth that she would 'grow out of it' and then her 'babyish' talk would be resolved. This is still the case today and has not been resolved.



Image: leah__2005_medium.jpgSocial interaction was another huge hurdle for Leah because of her undiagnosed condition. Making friends was hard. Her numerous doctor and hospital appointments, as well as several operations for grommets, also meant that she was away from school for long periods of time making it hard to form relationships. During this time Sarah felt she was working in the dark. She continued to push for support and a diagnosis but with no conclusive outcome. At times she would become desperate and scan the internet for clues.





Image: adam_poster_leah_medium.jpgBy the time Leah reached secondary school age Sarah describes her daughter as 'An unhappy girl who was struggling with life on a daily basis'. On most days Sarah would pick her up from the school gate in tears.
It was around this time that Sarah's Doctor asked her to bring Leah in to see her. She referred her to a new Paediatrician who suggested that Leah had a special blood test. Leah screamed the place down when the blood tests were taken she has a fear of both blood and needles.


Sarah will never forget the day the phone call came with the diagnosis of 22q11. It was early May and Leah's brother Luke was in the next room listening. Luke remembers his mother coming off the phone and saying 'Yes, finally!' The relief was instantly mixed with frustration and anger that Leah has suffered for so long without a diagnosis.
The next bombshell hit when Sarah, like her daughter Leah, tested positive for 22q11. Sarah describes this news as not surprising. She says, 'It was like finding the missing jigsaw piece'. Although on the milder end of the spectrum, it answered many questions she had over her own struggles with life. It was a defining moment to reach as she approached her 50th Birthday.
It was around this time that the family found Max Appeal. Sarah describes the charity as 'An absolute godsend - a lifeline for her family. It felt like opening the door to a whole new level of understanding about their life'.
However, receiving the diagnosis proved to throw other hurdles in their pathway and Sarah has to continue with her fight for Leah. Her school failed to recognise or understand the diagnosis and Sarah continued to work hard to get Leah's needs recognised. It proved impossible to get a statement of special needs.
Leah found the hustle and bustle of secondary school life hard to deal with. Finally, in year 8, Leah was moved to another quieter class. The affect was immediate. Leah felt much happier in this new classroom environment. Finally other children with different issues understood her! This was coupled with the Common Assessment Form which has enabled Leah to become fully part of the school community.
Leah SunflowersLeah is now a teenager who loves animals, art and Harry Potter. Her physical problems means she still needs help with certain things and her ear and hearing problems make it hard for her to concentrate. However, life is much more settled now and her confidence has soared in the last year. She completed her first full term of school (without sick days) at the end of last year which proved to be a landmark moment!
Sarah is so proud of her daughter and says ' Leah has had many struggles in her life the early years were particularly tough. She is now a young woman who is looking to make her mark on life. She inspires me each day!'

Leah has now started a college course and she is loving every minute of it!