Can people with angelman syndrome have children?
Angelman Syndrome is a rare genetic disorder that affects 1 in every 15,000 individuals. It was first identified by Dr. Harry Angelman in 1965 and is caused by a faulty or absent UBE3A gene on the maternal chromosome 15.
People with Angelman Syndrome experience developmental delays, intellectual disability, speech impairment, epileptic seizures, ataxia (lack of muscle coordination), hyperactivity, and sleep disorders. But one question that often pops up: can people with Angelman syndrome have children? Let’s delve into the topic to find out.
What is Infertility?
Before diving into whether people with Angelman Syndrome can have children let’s address what infertility means. Infertility refers to an inability to conceive after a year of regular unprotected sexual intercourse or carry pregnancy to term after conception.
Infertility can be primary meaning you’ve never given birth or secondary for those finding it difficult conceiving later on due to difficulties during past pregnancies such as miscarriages.
In humans; fertilization occurs when sperm from the male unites with eggs released from ovaries inside female reproductive system forming zygote which further develops fist into embryo then offspring over several months’ period in females.
However various factors(causes) are linked to infertility- including genetics health issues congenital disabilities illnesses infections environment lifestyle habits hormonal imbalances anxiety stress emotional disturbance drugs etcetera may be either treatable or untreatable affecting fertility differently between genders depending upon associated impacts
Impact of AS Gene Mutation on Fertility
AS patients have difficulty conceptualizing because they suffer from infertility due to absence/dysfunctioning paternal copy of chromosomes carrying important genes responsible for their fetal development producing gametes – pre-cursor cells capable generating ovum/ semen however majority astill attain puberty normalities still undergo menstruation & nocturnal emissions indicating sporadic hormones release
Problems with fertility are often seen to be linked to the hormonal imbalance in people with Angelman Syndrome. For instance, women tend to have an absent or irregular menstrual cycle due to their disorder resulting from poor functioning of Hypothalamus – part of our brain regulating hormones synthesis & secretion responsible for controlling reproduction- then making Follicle Stimulating Hormone (FSH) and Luteinizing Hormone (LH), which regulates estrogen levels in ovaries thus preventing certain hormones present could interfere reproductive processes leading difficulties conceiving
Can People with Angelman Syndrome Have Children?
It is medically feasible for people with AS gene mutation who experience infertility challenges can still have children although challenges may arise because conception remains unpredictable at times. There are various assisted reproductive technologies that help those individuals in these situations get pregnant.
In-vitro fertilization (IVF)
One method through IVF involves using donor eggs or sperm injection into a mature egg collected from female partner incubated for 2-6 days under lab conditions allowing embryo formation carefully implanted back into uterus giving viable pregnancy chances this allows couples where one partner has a genetic disorder like Angelman syndrome minimize transmission risk & possible traits transfer toward offspring enabling them own kids
Surrogacy
Surrogacy refers it’s practice where qualified woman act as carriers by providing womb implantation facility supplying surrogate child build on behalf biological parents who cannot carry term utilizing gestational carrier programs wherein either recipient’s ovum/sperm used or both sorted even birth through sperm donation services perfectly work solving female infertility issue while available option anyone hoping starting family impacted inherited issues.
Adoption
Adoption is another excellent approach besides the above medical treatments its entails having open mind adopting policies welcoming orphaned/abandoned children whom given loving homes affectionate manageable ambiance around other siblings neighborhood families enjoys happy stable well-off life could be very effective resolving satisfaction concerns any couple striving parenthood when all alternatives failed
All these methods have their respective advantages and disadvantages, but they increase the chances of having a child.
Are There Any Risks Associated with Pregnancy in Anglemans Syndrome Patients?
Although people with Angelman Syndrome are generally healthy throughout life; there can be complications during pregnancy that arise. Women who suffer from epilepsy often will continue to experience seizures even if on medication which may lead fetal distress interfering growing life.
In addition, individuals who have an AS gene mutation may pass it down to their offspring due to the autosomal dominant transmission mode which gives them 50% chance possibly transferring disorder inheriting half normal chromosomes from each parent increasing genetic-related illnesses risks among children’s progeny
Pregnant women with Angelman Syndrome also need regular medical assessments, as many challenges like physical discomfort (morning sickness), pain blood difficulties pre-eclampsia hypertension diabetes stomach conditions &pneumonia might appear at any stage leading hinderances/ miscarriage hence require close monitoring assurances absolving unexpected health disasters between gestation periods. Family support is very important for coping tough times encouraging strengthened family ties within members
Conclusion
It can be challenging for people suffering from Angelman Syndrome to conceive naturally due to infertility issues resulting from hormonal imbalances or genetics. However, given the advancements made in assisted reproductive technologies such as IVF and surrogacy along adopting practices these individuals retain reasonable chances becoming parents depending preferences considered most efficient proper expectations set according individual/family needs adjustable socio-economic background living standards.
As this article has shown: people with Angelman syndrome can have children but it ultimately depends on what measures they take and whether they choose fertility treatments or adoption so best advised reaching informed choices before embarking long satisfying journey igniting parenthood dreams striving successful futures together where bonds remain unbreakable sparking love affection gratified contentment enjoyed everyone involved without discrimination or embarrassment whatsoever as we must always remember Love Conquers All!