Undiagnosed Children's Day 2018

@SWAN UK (Syndromes Without A Name) celebrates #UndiagnosedChildrensDay 2018 #UCD18

Professionals are certain that Joshua had #MitochondrialDisease yet we are yet to gain an official genetic diagnosis, all tests completed so far have returned 'negative' results. #Genetic research is a vast process to which we (and many others) may never be provided with answers.

With regards to ‘Undiagnosed Day’ this day has more impact than I once would have realised. The lack of diagnosis has huge complications for us. We have met with our #geneticresearcher and #geneticconsultant a number of times; we have been through the hierarchy of genetic research to no avail. We are now in the final stage of genetic research, the 100 1000 genomes project, I believe this process can take up to 3 years and we have only 40% chance of gaining results. As a female nearing 35, I hear my body clock ticking, waiting for these results means putting life on hold, we had already planned to make Josh an big brother and have a third child. Now, pregnancy is simply a gamble. Due to the disorder being undiagnosed we cannot consider Pre Implantation Genetic Diagnosis (PGD) and even if we did gain a diagnosis #IVF would cost us £10K per attempt, only 1 in 4 attempts are successful which would be extremely costly and out of the question. So, we are left to consider the risk, we have no idea as to if the disorder is caused by a single parent carrier meaning a 25% risk or both my husband and I which increases the risk to 50%. I have to consider the stress of a future pregnancy, will I become neurotic, petrified of every illness and symptom that a future child has, terrified that it’s onset of the same disorder? Of course it will be difficult not to but in making the decision to have hope we have to try to remain optimistic. Of course fostering and adoption is another option.

We have a lot to consider and we must be realistic about the seriousness of all possible outcomes of future pregnancies. Grieving the loss of one child is truly horrendous; grieving the loss of another is unimaginable.

#Grief #Anxiety #ChildBereavement #ChildLoss

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