Hi everyone, I am a new addition to this site and my son has a Chronic Lung Disease (ABCA3 mutation)

I'm Lisa, Dominic's mum. He is now 3 yrs and one month old. I have been looking at this website for some time now and debated about joining. I now feel ready to be able to talk about my son's illness and our journey online and hope to help comfort others who's children are living with this illness.

Dominic has Chronic Interstitial Lung Disease Surfactant Protein Defficiency ABCA3 Mutation, is gastostromy fed due to previous failure to thrive problems which are slowly resolving, Was oxygen dependant, has development delay which is now improving, has eczema and now think he has vitiligo, he is being referred to a skin specialist and had a recent admission to hospital for oxygen therapy after being off oxygen for a whole year. Today I phoned for some results of some blood tests as he has had some reactions and allergies that are unexplained, I am anxiously waiting for them to phone with the results.

He is on a number of medications: Hydroxychloroquine, Co-Trimoxazole, Omeprazole, Prednisolone, Nutrini, Hydrocortisone Aqueous cream and Oilatum.

Dominc was ill at birth and required ventilation to assist with his breathing, was born full term with no complications during pregnancy, however it was thought by medical professionals that after the treatment he received he was a healthy baby that may ave a few chest problems as a result of his start in life but needed no further hospital treatments and was discharged home. Was a rough first 6 months as he appeared to be a slow grower to me and seemed to have an odd breathing pattern and was always sweating in his sleep, after reporting my concerns to the health visitor and medical professionals they kept reassuring me that he was fine and that some babies are just sweaty and I was bound to be concerned about his breathing due to the experience at birth. I still had this feeling though that there was something underlying that they were missing and would not let it go.

When he reached 7 months old after being in nursery he became very sick, I kept taking him to the local hospital and after a few visits and an admittance of a couple of weeks where I felt they had sent him home without fully investigating the cause of his symptoms I decided Childrens Hospital was the next place to take him if he needed medical attention again.

That's when the real journey began. My instincs were right, I was told that he would have to have a number of test before he would return home. After once month he was discharged as they could not find anything. Within 3 daysor so we were back and they then kept him for 9 consecutive months. The thing is children that have this illness do not always present the symptoms for the medically trained professionals to be able to diagnose as other illnesses easily mask this one, however time in diagnosing this illness is paramount to the treatment they need to receive in order to give them a chance in life. All I can say is they were fantastic with how they set about wanting to treat and diagnose Dominic.

It was a long process to diagnose him, he was 1 yr and 3 months old before they diagnosed him, he had been in there care for approx 5 months before diagnoses was confirmed, they tested him for everything and had to result in the end to a lung biopsy. It was the only way forward to enable the doctors to give him the right treatment and to confirm there suspicions of his illness. After a total stay in hospital of 9 months I brought him home to a life of oxygen tubes, suction machines, feeding tubes, central line in his heart, medications etc... My home had also been invaded by all sorts of medical professionals who were bombarding me with information to absorb. I'm sure  you can all relate to this and remember the course of events and emotions you all faught off to get through the day. We all somehow find that inner strength just kicks in and our coping mechanisms just take control which is great, we all become Wonder Woman or Super Man right? We all I am sure just want to keep our strength to focus on our childrens needs and ensure that we are the best parents in giving them everything they need from love, comfort and stimulation as well as constantly motivating ourselves in order to motivate our children. There is nothing more rewading than knowing that your child feels your love and has had the best day that you can give them.

I am so happy I came accross this website, I should really have joined sooner, I spoke to BLF when I first had Dominic home but they were not able to help me connect with families who have children with this illness. I have been asking medical professionals for some time to link me to other familes who were also unabl to help me. I am today going to give the hospital the link to this website and ask them to pass this onto any future families that would like a support forum/group that can network with each other and offer support and advice from experience.

Dominic has gone from strength to strength, not without his little dips of catching colds and infections and on a number of occasions scaring me half to death with his breathing, but he's having  a lot of fun, infact we are both having tons of fun and enjoy getting out and about without needing the oxygen and tubes to cope with. I also am very confident that he will one day soon be able to eat enough to sustain his weight growth requirements so that he can come off his gastostromy feed altogether. He is due to start mainstream pre-school in September (he is currently being statemented, however all the funding has been granted and he will have his one to one care until of course he out grows the need for that service). 

For all the parents out there that are living with this illness please be comforted by the fact that my son was not expected to come home let alone improve to the level he has done, he was an extremely sick child and the way I coped was by choosing to remain positive and optomistic dispite everything I was told b the medical professionals. The improvements Dominic has made were slower than I expected but I've always been quite impatient and have quite high expectations in life. Although his consultants are unable to determine what the future holds and how Dominic will be affected as he gets older and how he will cope with infections especially in the winter is something he has already proved he can fight and recover from.

I know Dominic is seen as a miracle child and every time we see his consultant I can't help but ask the question "what do I expect next"  the response is always  "we really do not know, he will at some stage become ill again but until such time we will not know how he will cope". I asked if his body would ever be able to produce the protein surfactant that his body lacks and was told "no because it's a genetic illness, however his progress is very encouraging".

There is hope for all of our children - I always say "where there is life there is hope". I have found myself that my strength of mind in staying positive has had a massive part to play in Dominics progress so every day I wake up and make the most of what I have and do not compare my life against others and what they have. 

If anyone would like any support or has any questions about  Dominic and how we live with his illness I am more than happy to answer any questions or concerns you may have.  

Warm regards to everyone, Dominic is  having his mid day sleep at the moment, however I can guarantee that as soon as he wakes up he won;t ask for me he will be asking for Buzz Lightyear lol 

Lisa and Dominic

P.S I have attached a couple of photos of Dominic, one prior to his Lung Biopsy which was taken in June 2008 and a photo from last month, July 2010 :-)