Naomi's Fight

Her Extended family ...

On Sara's side, Great-Grandparents - Thelma and Billy Farrimond, Roy and Winnie Mann, Step grandparents - Helen and Ken Gregory, John and Anna McClelland

On Chris' side , Great-Grandparents -

Even more family ...

Naomi is accepted as a full member off all the families mentioned whether they be full, half or step family. As a result she has many first cousins, Aunts and Uncles. Her family tree is being explored using Ancestry.co.uk, if you are related to Naomi email me and I will allow you access to the tree and update your details.

On Sara's side - Great Uncle Ian and Aunt Kath with daughters Stephanie, Kylie and Rachel. Great Uncle Roy, Great Uncle Steven and Aunt Janet

On Chris' side - Great Uncle Joe and Aunt Debbie with sons David, Joseph, Mitchell and Craig who is married to Victoria and has a son Ryan

Aunty Katy ...

Naomi is not the only member of the family with Cystic Fibrosis. Aunty Katy (my youngest daughter) also has CF. Katy has NONE of the classic symptoms of Cystic Fibrosis and so was never diagnosed, although looking back there were some signs that we attributed to other things.

As a baby, Katy had problems regulating her body temperature and would sweat profusely at random, which would leave her skin with salt crystals forming around her nose and forehead (a classic sign of CF). At the age of 10 months she caught Bronchiolitis, an often fatal childhood version of Bronchitis which affects the lungs. She was hospitalised for 1 week and actually died on the first night but was revived within minuted by the nursing staff. She was on a nebuliser several times a day and slept in an oxygen box, the staff were surpirised by her resiliance and determination, she even learned to stand on her own in the crib at the hospital. After her release she was very thin and pale but extremely active. She did not grow at all for almost 18 months (which at the time was attributed to recovering from an almost terminal illness) and was using an inhaler with a spacer for almost 2 years. With hindsight, the Dr really should have sent her for testing but as she was so full of life they decided that she was just small and we didn't know any different (both sides of the family are short).

By the time Katy was leaving Primary School she was taller than I was at that age, but so very much thinner, she was always a very picky eater and again we didn't think too much of it. In High School she was one of the smallest in her year and as the years progressed she was quickly outgrown by everyone. Now in S5 (secondary 5 and beginning her Highers) she is the average height of a 1st year at 4' 10" and very slender. She is generally in very good health, although she does suffer with indegestion and common illnesses can knock her out for twice as long as her classmates.

How was Katy diaganosed?
When Naomi was diagnosed with Cystic Fibrosis, Sara (Katy's half-sister) was screened to confirm her status as a carrier (C.2988+1g>a) and her mother was also tested (she came back negative). By the process of elimination that meant Sara's dad (Marc) must be a carrier, our Doctor was reluctant to have expensive testing done when the outcome was obvious and said we should wait until Daniel and Katy were of reproductive age to have them tested for carrier status (on the basis that it would only matter if they were having kids). When Dan turned 16 he requested a test and the locum Doctor had previous experience of CF (from his training days), he agreed Katy should be tested at the same time.Katy was 15 when she was tested. When the results came back we received a call from the hospital to discuss Katy's results and were told Dan did not need to attend as he was clear of the genes. We though it a little unusual that the hospital insisted that both parents were present, and as we had all weekend to think about what that could mean, had discussed the possibilty that they had found CF.

We were introduced to the Genetic Counsellor and Consultant, who gently (and confusingly) told us not to worry Katy did not have Classic CF but that she did have CF! When it was explained properly Katy has inherited the same gene from her dad as Sara and another CF gene from me (P67L) which is known as the Scottish Gene as it has only been found in people with Scottish Ancestry. It is a very rare (1.5% of the Scottish CF patients have it, less than 200 people worldwide) very mild form of CF, when combined with other CF genes it can have a varying effect usually leading to misdiagnosis. The specialist team have not analysed anyone else with Katy's particular combination and asked her to be a medical research guineapig to see if her combination has any effect on her (so far nothing has been found and they have run all of the normal tests with her results better than a normal person without CF). They also asked if they could trace the gene through my family (I was tested to confirm the gene is present), as a result my father has been eliminated as a carrier and my mother is still waiting on her results (but by elimination it will be her). They will then offer testing to all her siblings and any who carry the gene will have their children offered tests too. That is a lot of people, the immediate family tree that I took in to show the researcher was 7 pages of A4 in font size 8, only showing 3 generations of living immediate relatives.

Katy is very fortunate to live close to the Western General Hospital, in Edinburgh, where the research into P67L is taking place, that means all the experts are close by too. She has just had her first annual MOT (a full battery of tests covering everything that could possibly be wrong with someone and checking lung function during rest and exercise), which was completely normal or better than normal. She must go back in late September for a 3 month check up so they can update her notes and she can receive her flu jab (with the Swine Flu pandemic she will receive that jab as soon as possible too).