Friday, 22 January 2016

Big Brother

Once I never thought I would ever be able to be a mum after being told I would never have children naturally.

I knew the fertility treatment journey would be long, hard going and emotional with no guarantees in the end.

We were blessed with not just 1 nor 2 but 3 handsome boys.

It was not without heartache as we lost a baby before our 3rd son...

After our 3rd who is Roo, we knew our family was complete as I had used up my quota of fertility treatment and then Roo issues came to light and I must admit I felt relieved that he was my last baby, that I managed to have 2 Neuro typical children before him so I would never have the added worry of having more children.

Fast forward 5yrs, Roo was/is going through a good phase so I decided it was time to look after me, joined SW and had lost 4st 13 lb and was looking forward to getting my 5st award..already I felt the benefits of losing weight as I was able to do so much more with my boys, we had respite in place so we did things like swimming , playing board games etc and were starting to feel like a family again when we received news we never ever expected...

I was pregnant...again...very unexpectedly...

A huge range of emotions took over - shock at first,  then confusion as I had no treatment, in the 16 yrs my hubby and I had been together we never had managed to fall pregnant naturally, we always needed fertility treatments, medications, scans, injections and constant hospital appointments so everything was planned (sometimes it felt too clinical but it was necessary ) and fitted around our lives. After several days of doing pregnancy tests every morning to show it was real we started thinking about whether we would cope as our family dynamics would change, we would need a bigger home, then came the thoughts of "what if the baby had the same genetic issues Roo had?" " would we cope with 2 special needs children? " & lastly the feeling of amazement  that my body had done the impossible , feeling a bit excited and happy but anxious most of all.

Not long afterwards one of my fears came true..I developed Hyperemis again and was put on strong antisickness meds to help me to get through the days, in my darkest days I did think "I'm never going to cope with being sick everyday  and caring for Roo as well as my older children" many tears were shed, feeling so guilty for even thinking of whether to continue the pregnancy but then the meds kicked in and gradually I started to see light at the end of the tunnel... people don't understand HG unless they have been through it or see a loved one suffer...the constant nausea that never goes away ,  unable to even hug your children because the lingering scent of something they had eaten made you violently sick, unable to even play  or read books because you are concentrating so hard on not being sick, the exhaustion of fighting to keep your body hydrated to prevent hospalisation, the times I venture outside everything had to be planned, making sure there were toilets or somewhere I could vomit without being stared at and tutted at, somewhere i can rest when needed, the days i made myself get up and take Roo to the constant hospital appoinmtents often left me completely drained and i would collapse in a heap once home running to the bathroom to be sick, doing everything you can  to force water and some food down even if it meant you being sick but by forcing myself to take regular sips no matter how many times i was sick helps to keep me hydrated enough to stay out of hospital. My family have had to adapt their routines around me in order to allow me to rest as much as possible, my husband has had to reduce his hours at work so that he can come home so I can get some rest as Roo is up at night and the tiredness makes me more ill. What makes me sad is my children see me so ill but they amaze me...when I was pregnant with my 2nd my eldest would sit beside me in the bathroom rubbing my back and saying its ok...when pregnant with Roo there were two of them rubbing my back and comforting me...they don't do that now as they are much older , instead they wait till I come out then ask if I'm ok... Roo on the other hand doesn't understand and takes advantage by making as much mess as possible, runs his brothers mad by refusing to do what they want him to do , screaming if the dare try to get his breakfast ready, touch him or make him a drink..he has become a lot more stubborn and I'm finding it hard as I struggle to lift him as he still needs lifted downstairs etc...I will soon end up in crutches so it's gonna be even harder but hey we will work around it. 

I can't believe Roo is going to be a big brother! Its gonna be a big change for him and we won't know how he will take to it at first but he will soon adapt. I have visions of him trying to lift baby by its head etc!! ...I'm never gonna be able to leave him alone with baby as he has no danger awareness so he is gonna have to come with me whenever I need toilet or do something in another room! I'm already thinking of different ways to ensure everyone is safe and happy, thinking how on earth on the days he needs his wheelchair am I going to have baby too until someone mentioned baby wearing slings and it sounds great esp for over the summer months as it means I can still get out and about , and when he starts at school I can use the sling on the days we walk to school with him in his chair and other days I will have my car.

I'm also coming to terms that its gonna be hard at nights as obviously the first few months baby will be up every few hrs for feeds and with Roo not sleeping too great its gonna be interesting juggling a feeding baby with a wide awake Roo who needs to be watched and entertained! But we will make it work out somehow...my only consolation is that the birth will fall before summer break so I won't have nursery/school runs to worry about!

Today we met the genetic consultant that Roo is under and he told us that he feels that the genetic mutation Roo has is new and that the baby will only have 5% chance of having the same condition as his/her brother. He said its very hard as Roo still doesn't have a overall diagnosis so he can't suggest certain tests,  he did say that they were expecting a batch of results from the study Roo is on and he is hoping that one of them could be Roo's but they may not find anything if its too rare..it's a matter of waiting ... he then asked the question about if I would terminate the pregnancy if baby was found to have the condition and I looked at Roo who was happily singing in his chair and immediately said "No" and it was then that I realised that no matter what we were going to have this baby and if he/she is found to have the same issues as Roo we will deal with it when the time comes. We have the 20 wk scan coming up and if the head is bigger than normal then we would need to be prepared that baby may have the same issues as Roo but as Roo issues didn't come to light till after the birth so the chances are is that we will never know during the pregnancy and will have to wait and see once he/she is born to rule it out so there will always be that tiny possibility but we can only hope for the best. 

For now we are going to focus on preparing Roo to be a big brother (maybe a buggy and doll would help? Much to the amusement of my hubby who sees them as girl toys despite the fact our second son had a baby doll he slept with for 2 yrs!!!) and prepare for whatever lays ahead...

Thursday, 10 September 2015

A letter to my MP about rare & undiagnosed conditons

George Kerevan
House of Commons
London
SW1A 0AA



Dear George Kerevan,

All party parliamentary group on rare, genetic and undiagnosed conditions.

I am writing to you as my MP to ask you to join the All Party Parliamentary Group (APPG) on rare, genetic and undiagnosed conditions.
Rare, genetic and undiagnosed conditions are often life-long and serious, affecting multiple systems of the body. Many of them are progressive, meaning that the health and quality of life for affected individuals will continue to deteriorate throughout their lives and many of those affected will die prematurely. The vast majority of rare and genetic conditions cannot be cured and most have no effective treatments. Families like ours frequently experience delays in gaining an accurate diagnosis for their or their loved ones condition and can struggle to access appropriate care and support.
My son Reuben has a rare genetic condition that doctors have so far been unable to identify and he is currently on the Deciphering Developmental Disorders Study which examines his DNA to try and find the reasons behind his disability. He has been on this study for 2yrs and 9mths and we still have no answers. We are facing the possibility that we may never know.
Due to being undiagnosed it means we are isolated and often have to fight to get certain services and support. Its only thanks to SWAN UK a charity who support families of undiagnosed children that I realised that I was not alone and that there are other families who are in the same situation as me. We all have no idea what the future holds as doctors cannot explain what is affecting our children. Despite all this our son is such a happy little boy who loves anything to do with music and water! In the last 4 years he has undergone many different tests to try and find a diagnosis and most tend to come back normal. The ones that come back abnormal have raised even more questions as they make no sense to the doctors and they think its tied to the undiagnosed condition he has. He has significant developmental delays and is unable to communicate his needs and I often have to try and work out why he is crying/screaming. He has absolutely no awareness of danger and needs constant supervision/care 24/7. He has a sleep disorder which prevents him sleeping as much as we do and some nights I don't even get to bed. It can be very hard and affects our family life. Can you imagine how hard it is living with such uncertainty? That is why I'm asking you to join this APPG and to use the group to press for improved diagnosis opportunities, which in turn may unlock access to effective medical care and treatment for others like us.
I am unlikely to be your only constituent whose child is affected by a rare, genetic or undiagnosed condition. It is thought that about 50% of children with learning disabilities and 60% of children with multiple congenital problems do not have a definitive diagnosis to explain the cause of their difficulties. Rare and genetic conditions are a significant cause of illness - 1 in 17 people will be affected by a rare condition at some point in their life ( that's approximately 5,000 people in our constituency alone) and 4 in 100 babies in the UK are born with a genetic condition. It is estimated that 6,000 children are born a year with a genetic condition that will remain undiagnosed.
The key aims of the APPG will be to increase awareness of rare, genetic and undiagnosed conditions in parliament and to help ensure that patients and their families, families like mine, who are affected by these conditions, have access to appropriate care and support.
The charity Genetic Alliance UK will be providing secretariat to the APPG, so please get in touch with them by emailing emily.muir@geneticalliance.org.uk or by calling 020 7704 3141, so that they can provide you with additional information.
I hope that you will join the APPG and dedicate a small fraction of your time to what is an exceptionally important subject.
I look forward to your response.
Yours sincerely,
Jenni ( Reuben's mum)