National Birth Defects Prevention Month

 It’s Cervical Health Awareness Month, Glaucoma Awareness Month, National Birth Defects Prevention Month, National Blood Donor Month, and Thyroid Awareness Month. Do any of these health issues resonate with you? Talk about it. 

As a women who has 22q11.2 deletion all of thees awareness effect me. Other then Glaucoma which I do not have. I have a birth defect the 22q deletion I write about it is a small piece of genetic material dna that is missing, I am a blood donor I am a type 0 the kind that can give and not recieve unless you are a type o so get out there and donate any amount you can. Thyroid awareness month I have to say I had some signs and my mother has Throid issues she does not have 22q but it is common among those who have 22q and my Throid is functional at normal levels I have been tested and there is no need to freak out or be concern after until I get a little older and hit full on menapause. having a gentic disorder of any kind brings all kinds of health issues and I wanted to share that is is also cervical health month as cervical cancer was a scary concern when I was a teen but it so happen that I was okay and didn't have cancer. I am glad there is testing for all of these different things and awareness but sadly when you mention 22q people still are not aware not even doctors or nurses know what I am talking about when I bring it up. Awareness is great but knowledge is key.  That is what kept me writing and blogging about our disorder all of these years and I will keep blogging until you hear 22q and are just as aware about it as you are aware about down syndrome.  That's a post for another day

 

Seasons greetings from the Ripsam Family

Greetings from the Ripsam family (kids are not pictured here) We had a sitter and went out for our 11 year wedding anniversary!

greetings from the Ripsam family.jpg

Instead of getting gifts at Christmas for each other or anniversary gifts we spend it on going out to eat at our favorite restaurant and we saw the new Jumanji: Welcome to the Jungle

Adam of course always orders steak and I ordered Lobster. I have to say it was very good food and we had a great time together kid free.  A friend of ours babysat for us and we fully took our time eating.

I have not done a rambling post in a while but this time of year a lot of thoughts roll around in my head about family, life and goals for our future.

Taking the time to go on date nights allows for us to focus on our future goals and gives us something to look forward too.

That was why it was important we got Married before the New Year having depression and anxiety having something to stay focused on that is good is key to getting past the holidays.

My younger brother passed and my grandfather passed and grief pops up around this time of year for me the winter months I have more time to think then I do any other time of the year and the cold keeps me indoors usually alone with my thoughts while hubby is at work and the rest of the family off at work or school.

  Being a stay at home mom is a struggle. Its not all eating candy in front of the tv but clearly as you can see that did happen it wasn't candy mostly chips in my defense. I will own that I had a hard time after I had the gasteroparies diagnoses and carbs became something that was not only easy for me to digest but was comforting for me on flareups days.

I have come a long way since and even running once a week. I'll work up to two or three days a week but that fact I am doing one day a week is huge for me. The doctors told me not to run because of the pain that would go on my joints. I am making small changes here and there and notice it helps with depression and anxiety levels. when I work out. I have been trying hard to find balance in the mix of it all. From self care such as working out at the gym running and focuing on weight loss to become healthier is another challenge to over come. I am also turning 35 in Feb and you know other then raising Bella and having a 11 year marriage I'm not sure what else I have accomplished.

Usually there is the stress of Christmas this year was very little stress infarct it was one of the simpler years but it was more meaning full because the first time in our marriage we are comfortable financially where we could do Christmas with out assistant of any kind. 

If you had asked me the same time last year if I would be saying this I am almost sure I would tell you we almost didn't make it. The stress on a marriage of having special needs and raising a child with health issues on top of your own issues is a challenge and exhausting.

My immigration oreal is almost behind us and moving forward in the the most positive direction that too I would have told you would not have happen either but it is moving along well. Originally born and raised in Toronto living in a small town in Michigan has many challenges from trying to connect with the locals being a stay at home mom makes that even more of a challenge being a stay at home mom to a 10 year old is almost unheard of .  35 this year is also a time of self reflection or a early mid life crisis. 

I sure hope that don't happen having Adam at my side even though he is at work while we attend the many appointments or I clean and cook and do the things us moms have to do I know there is someone there who has my back most days. We have had our ups and downs this past year but to be honest I think that down and up stuff brings us closer together.

One picture of our dinner date and then I'll stop with the ramblings that are going though my mind this is a year of growth for sure for our family. I see so many positive changes coming and I am looking forward to the path God will take Adam and I and of course our family on.

Thank you all for following along our journey.

This new year you can look forward to more YouTube videos, Podcast and other forms of postings in the Facebook fan page, Twitter and Instagram. 

I am even starting to write again with a focus on a book. I have always had that sitting on my hard drive collecting dust doing nothing with it but taking  a year off from writing meeting new people and having more experiences has given me the time to allow God to direct my focus and journey. 

Until next time keep pressing forward and know you are not alone.

 

 

 

Anniversary.JPG

Deciding your worth based on who you are in Christ not of your ablities or disablities

Lessons I have learned I felt passionate and inspired and I want to share with all of you. My blog has been dusty for a while I felt worthless of being published I felt perhaps I do not have people who are truly supportive or me based on my reader ship being so small compared to where the agents would like my numbers to be at 5,000 I am some where around only 1,000 but those 1,000 people I built friendships and trust with so in my eyes those 1,000 mean more to me then any larger number of followers ever could.

I put everything I do into helping others because I know what is is like to not have support or be able to find the right fit resources as a adult and mom who has a genetic disorder and raising someone with a genetic disorder. People are in shock when I speak and share my story. I'm in shock they are in shock.  No more helping others unless I get mutural benefits and no more wasting my time and getting nothing back in return. I am looking and seeking friendships who are not flaky, shady or move. I am done being that person who is venerable and open and walked over. That's what people do they will walk over you if they see you as weak. Sweet equals weak into days society.

So I am dusting off my blog and saying so what. Now insert Pinks so what song and you get my attitude when I share my passion on this . I'm ready to stand up and take my power back. I'm not going to let anyone else make me feel like I am small and a worthless mistake because of my genetic disorder.

I had to learn my gifts I had to dig deep and do therapy which is not just simply taking things out it's looking in word to discover my worth. I  do not find my worth in what anyone else thinks of me but in what God sees and thinks of me. 

Sometimes people argue that the Bible discriminates against disabled people. Frequently they will cite verses such as Leviticus 21:16-23:

And the Lord spoke to Moses, saying, 'Speak to Aaron, saying, None of your offspring throughout their generations who has a blemish may approach to offer the bread of his God. For no one who has a blemish shall draw near, a man blind or lame, or one who has a mutilated face or a limb too long, or a man who has an injured foot or an injured hand, or a hunchback or a dwarf or a man with a defect in his sight or an itching disease or scabs or crushed testicles. No man of the offspring of Aaron the priest who has a blemish shall come near to offer the Lord's food offerings; since he has a blemish, he shall not come near to offer the bread of his God. He … shall not go through the veil or approach the altar, because he has a blemish, that he may not profane my sanctuaries, for I am the Lord who sanctifies them.'

how does the Bible portray disabled people, and what does that reveal about God's heart for people with physical, sensory or cognitive impairments?

What do you personally think about people with these health issues what if someone you loved developed any of these or was born with any of these and there was no fixing the problem.

My thoughts on this is

You shall not curse the deaf or put a stumbling block before the blind, but you shall fear your God: I am the Lord." (Leviticus 19:14) really have meant that disabled people were inferior to others and unworthy to offer worship?

I once attended a church service where the guest speaker told the members of the church if you have cancer don't take your kemo to stay alive. I mean really. This is why it is so difficult for me as a mom with special needs and a child with special needs to addend services at church. They expect a child with physical adhd to sit still and be quiet not at my church but at a few I have visited. 

 

What Disability is Not

 

As [Jesus] passed by, he saw a man blind from birth. And his disciples asked him, 'Rabbi, who sinned, this man or his parents, that he was born blind?' Jesus answered, 'It was not that this man sinned, or his parents, but that the works of God might be displayed in him.' (John 9:1-3)

Nor is disability a curse, as some communities still see it:

So we do not lose heart. Though our outer self is wasting away, our inner self is being renewed day by day. For this light momentary affliction is preparing for us an eternal weight of glory beyond all comparison, as we look not to the things that are seen but to the things that are unseen. For the things that are seen are transient, but the things that are unseen are eternal. (2 Corinthians 4:16-18)

Affliction or disability are not hindrances to God's grace in our lives – quite the opposite:

So to keep me from becoming conceited because of the surpassing greatness of the revelations, a thorn was given me in the flesh, a messenger of Satan to harass me, to keep me from becoming conceited. Three times I pleaded with the Lord about this, that it should leave me. But he said to me, 'My grace is sufficient for you, for my power is made perfect in weakness.' Therefore I will boast all the more gladly of my weaknesses, so that the power of Christ may rest upon me... For when I am weak, then I am strong. (2 Corinthians 12:7-10)

And, in contrast to the culture of Bible times, the culture in some parts of the world today, and the hidden culture that afflicts our own hearts when we shy away from disabled people (for a recent survey by Scope revealed that 67% of us say we are uncomfortable talking to disabled people, disabled people are not untouchable. Jesus demonstrated this when a woman with a haemorrhage crept up behind Him to touch the hem of his robe. She was healed and He singled her out for special honour because of her faith (Luke 8:43-48). When a man with a contagious skin disease broke the law that excluded him from venturing into the city, and fell at Jesus' feet imploring Him, "Lord if you will, you can make me clean", His immediate response was to stretch out a hand and touch this man whom the law forbade Him to touch, and declare, "I will; be clean." And immediately the leprosy left him (Luke 5:11-13). When God chose to incarnate Himself in the person of Jesus, his attitude towards disabled people was quite revolutionary in His day, and if we're honest, in our day too.

Disabled people are created, valued and loved by God

So the Lord said to him, 'Who has made man's mouth? Or who makes the mute, the deaf, the seeing, or the blind? Have not I, the Lord?' (Exodus 4:11, NKJV)

Disabled People in the Bible

 

But positive images of disabled people in the Bible are not confined to Christ's ministry; they are found throughout the Old and New Testaments.

Perhaps the best known example is Mephibosheth in 2 Samuel 9. He was the son of Jonathan and grandson of Saul. He became disabled when his nurse fell with him in her arms as she was trying to flee from danger. We don't know if he suffered injury to his legs or brain injury affecting the motor responses in his leg muscles, but either way he had a mobility impairment for the rest of his life. When David became king, he made enquiries as to whether there was anyone left from the house of Saul to whom he could show kindness for his friend Jonathan's sake. When he found Mephibosheth, he did not single him out for his disability – he simply did what he would have done for any son of Jonathan.when he discovered his disability, did he recoil from honouring him; he treated him exactly as he would have done if Mephibosheth had been a powerful warrior. He welcomed him to his table, gave him Saul's land and provided servants to farm it for him. This story becomes a powerful metaphor for the kingdom of God, where abled and disabled people sit together side by side as equals at the feast table.

In the kingdom of God, abled and disabled people sit together as equals at the feast table

Moses is another example. He was too frightened to speak to Pharaoh because he had a speech defect (Exodus 4:10-16). We don't know whether this was an actual speech impediment, or whether he suffered from a disabling degree of anxiety. Either way, God provided support for him in the form of his brother Aaron who was sent along to be his spokesman.

Elijah was very impressive in public; he called down fire from heaven in front of all the people and shamed the false prophets of Baal. He had great spiritual authority and was unafraid to challenge the king's wrongdoing. And yet the day after his great triumph he was in hiding, suicidally depressed, and begging God to take away his life. God's response, in 1 Kings 19, is very tenderly to care for his physical needs (food and sleep) to take him to a place of safety, and to speak to him in a voice of the utmost gentleness. How is it, then, that so many Christians feel stigmatised by their fellow-believers when they experience mental ill health?

In 2 Kings 7 there is a curious story in which the heroes are four disabled men – they are outcasts due to their physical condition, some form of skin disease or 'leprosy'. The King of Aram has laid siege to Samaria. The people in the city cannot leave and no one can enter; consequently the people are starving. A donkey's head changes hands for an exorbitant amount, and people are even reduced to eating the bodies of those who have died of starvation. God supernaturally causes the Aramean army to hear the sound of an approaching assault force and they drop everything and flee. Four men with leprosy (who have been excluded from the city because the laws do not permit them to live in the community with a contagious condition) are discussing their future. They decide that their only two options are to die a slow death from starvation, or to surrender to the Arameans who might kill them, or might in fact imprison and feed them. They decide the risk is better than the certainty of starvation. But on arrival at the Aramean camp, they find the place deserted and all the Arameans' possessions and food abandoned. They eat their fill, and then realise that they can't keep this good news to themselves; so they break the rules by returning to the city of Samaria, from which they are banned, and share the good news of their discovery. The food is distributed and the Samaritans are saved from starvation by the action of these four men. This, too, is a striking living parable for the church – it is those who are outcast and stigmatised who contribute to the life and health of God's people.

Of course, disability comes to most of us eventually; most of us are in our temporary, non-disabled phase! There are examples of people who, by reason of old age, have lost their physical faculties, but that is no barrier to them playing an essential part in God's plans. Isaac, by the end of his life, is too blind and too confused to be able to distinguish between his sons, or discern that a trick is being played on him. And yet the blessing which he pronounced on his younger son Jacob had lost none of its spiritual power, and the things which Isaac foresaw for his sons did indeed come to pass.

Similarly, Jacob, renamed Israel, and, by the end of his life too frail to get out of bed, quite deliberately switched his hands over and placed his right hand, the blessing of the firstborn, on the head of the younger of his two grandsons. Joseph, the boys' father, remonstrated with him, but he made it clear that this was no mistake; despite his physical frailty he had seen that God had particular plans for the younger boy, and like his father Isaac, the words he spoke in his weakness at the end of his life came to pass.

The Bible is full of people whose disabilities were no barrier to them playing a vital part in the history of God's people

In the New Testament, as well as Jesus' healing ministry to many disabled people, there are examples of disabled people portrayed in a positive way, and of God using disability for good in people's lives. Zacchaeus seems to have been of abnormally small stature; so much so that he had to climb a tree to see Jesus above the heads of the crowd. He had a history of making himself feel 'big' by defrauding people when he collected their taxes. Jesus noticed him, valued him, sat and ate a meal with him in his home. Being loved by Jesus enabled him to change and become generous.

Saint Paul became blind as a result of his encounter with Christ on the road to Damascus. We know from his own writings, and from the facts that he did not recognise the high priest (Acts 23:5) and needed to use an amanuensis to write his epistles (Romans 16:22), that even after Ananias had been sent to restore his sight to him, he had a continuing eye problem. He wrote to the Galatians:

You know it was because of a bodily ailment that I preached the gospel to you at first, and though my condition was a trial to you, you did not scorn or despise me, but received me as an angel of God, as Christ Jesus. What then has become of the blessing you felt? For I testify to you that, if possible, you would have gouged out your eyes and given them to me. (Galatians 4:13-15)

These are just a few of many examples of people vital to the purposes of God who had disabilities. Gideon seems to have had an anxiety disorder; Leah may have had a squint; Jabez was labelled negatively by others, but refused to be defined by that label; Naaman was more disabled by his pride than by his physical condition; Samson, despite being blinded, destroyed the temple of the idolatrous god Dagon; one of the first evangelists was the man who had been born blind (John 9). The Bible is full of people whose disabilities were no barrier to them playing a vital part in the history of God's people.

Disability in the Bible

Disability is seen in the Bible as something that catches God's attention:

Bartimaeus, a blind beggar, the son of Timaeus, was sitting by the roadside. And when he heard that it was Jesus of Nazareth, he began to cry out and say, 'Jesus, Son of David, have mercy on me!' And many rebuked him, telling him to be silent. But he cried out all the more, 'Son of David, have mercy on me!' And Jesus stopped and said, 'Call him.' And they called the blind man, saying to him, 'Take heart. Get up; he is calling you.' And throwing off his cloak, he sprang up and came to Jesus. And Jesus said to him, 'What do you want me to do for you?' And the blind man said to him, 'Rabbi, let me recover my sight.' (Mark 10:46-51)

This man whom others regarded as a nuisance and tried to silence, was noticed, loved and ultimately healed by Jesus.

Treating disabled people well is not only good for them, but for the giver as well:

Then Jesus said to the man who asked Him to eat in his house, 'When you have a supper, do not ask your friends or your brothers or your family or your rich neighbours. They will ask you to come to their place for a supper. That way you will be paid back for what you have done. When you have a supper, ask poor people. Ask those who cannot walk and those who are blind. You will be happy if you do this. They cannot pay you back. You will get your pay when the people who are right with God are raised from the dead. (Luke 14:12-14, NLT)

This point is made even more clearly in Paul's letter to the Corinthians, where he affirms that God gives greater 'honour' to those who are deemed to lack it:

But as it is, God arranged the members in the body, each one of them, as he chose. If all were a single member, where would the body be? As it is, there are many parts, yet one body. The eye cannot say to the hand, 'I have no need of you', nor again the head to the feet, 'I have no need of you.' On the contrary, the parts of the body that seem to be weaker are indispensable, and on those parts of the body that we think less honourable we bestow the greater honour, and our unpresentable parts are treated with greater modesty, which our more presentable parts do not require. But God has so composed the body, giving greater honour to the part that lacked it, that there may be no division in the body, but that the members may have the same care for one another. If one member suffers, all suffer together; if one member is honoured, all rejoice together. (1 Corinthians 12:18-26)

 

People with learning disabilities – the foolishness of this world?

Jesus recognised that God's profoundest communication came not in words to the minds of the wise:

At that time Jesus, full of joy through the Holy Spirit, said, 'I praise you, Father, Lord of heaven and earth, because you have hidden these things from the wise and learned, and revealed them to little children. (Luke 10:21)

Or, as the Amplified Bible renders it, not "little children", but "the childish, unskilled, and untaught".

Those of us who work with people with intellectual disabilities observe that they are frequently quicker to hear from God than the rest of us. They are often seen as foolish in the eyes of this world, but are wise towards God. Paul tells us in 1 Corinthians 1:25 that the foolishness of God is wiser than human wisdom, and the weakness of God is stronger than human strength.

So we can see God's special purpose for those with learning disabilities:

For consider your calling, brothers: not many of you were wise according to worldly standards, not many were powerful, not many were of noble birth. But God chose what is foolish in the world to shame the wise; God chose what is weak in the world to shame the strong; God chose what is low and despised in the world, even things that are not, to bring to nothing things that are, so that no human being might boast in the presence of God. (1 Corinthians 1:26-29)

Importantly, how we treat "the least" of all is how we are treating Christ:

The King will reply, 'Truly I tell you, whatever you did for one of the least of these brothers and sisters of mine, you did for me.' (Matthew 25:40)

Amos Yong sums it up superbly:

If people with intellectual disabilities represent the foolishness of the world, what hinders our viewing them as embodying the wisdom of God?

This suggests that seen from an eternal perspective we should revise our whole view of disability. We who thought we had the advantages in life – the strong, the clever, the ones the world regards as 'gifted' – find that on a spiritual level we can be severely disabled compared to our brothers and sisters who lack those intellectual giftings, but whose spiritual life can be marked by abilities and giftings we never suspected.

Disability and our Christian Community

So, as a Christian community, whether an organisation, a church or a Christian Union, what can we do to ensure that the status of disabled people that we find in the Bible is worked out among God's people today?

The first thing is to approach disabled people with humility, in the way that the Bible instructs us to approach everyone:

For by the grace given to me I say to every one among you not to think of himself more highly than he ought to think, but to think with sober judgement, each according to the measure of faith that God has assigned. For as in one body we have many members, and the members do not all have the same function, so we, though many, are one body in Christ, and individually members one of another. Having gifts that differ according to the grace given to us, let us use them. (Romans 12:3-8).

Do nothing from rivalry or conceit, but in humility count others more significant than yourselves. Let each of you look not only to his own interests, but also to the interests of others. (Philippians 2:3-4)

We should serve disabled people exactly as if we were serving God himself:

Whoever receives you receives me, and whoever receives me receives him who sent me... And whoever gives one of these little ones even a cup of cold water because he is a disciple, truly, I say to you, he will by no means lose his reward. (Matthew 10:40-42)

Crucially, we must allow disabled people to use their gifts to serve us, the church and the community:

Speaking the truth in love, we are to grow up in every way into him who is the head, into Christ, from whom the whole body, joined and held together by every joint with which it is equipped, when each part is working properly, makes the body grow so that it builds itself up in love. (Ephesians 4:15-16)

The Christian disability charity 'Through the Roof' recently completed a survey of disabled people's experience of church. One thing that emerged is that among the disabled Christian community there is such a wealth of spiritual wisdom and maturity, we can only ask why more of them are not represented in church leadership.

We must treat disabled people with more, not less, respect and honour. As we have seen, they are to be given pride of place at the feast table (Luke 14:12-14) and treated with greater honour (1 Corinthians 12:23):

Pay to all what is owed to them: taxes to whom taxes are owed, revenue to whom revenue is owed, respect to whom respect is owed, honour to whom honour is owed. (Romans 13:7)

We must be clear that God takes unjust treatment of disadvantaged people very seriously indeed:

I will not revoke the punishment, because they sell the righteous for silver, and the needy for a pair of sandals – those who trample the head of the poor into the dust of the earth and turn aside the way of the afflicted. (Amos 2:6-7)

Strengthen the weak hands, and make firm the feeble knees. Say to those who have an anxious heart, 'Be strong; fear not! Behold, your God will come with vengeance, with the recompense of God. He will come and save you.' (Isaiah 35:3-4)

This may mean that at times we have to fight for the rights of disabled people:

He has told you, O man, what is good; and what does the Lord require of you but to do justice, and to love kindness, and to walk humbly with your God? (Micah 6:8)

We must go beyond mere inclusion. Disabled people don't simply need to be included (although that's a good starting place) – they need to belong. And in the church, of all places, there must be no 'them and us'. John Swinton explains this distinction very clearly:

The problem we have with society is a real emphasis – and a quite right emphasis – on inclusion. I think at one level that's fine. However, inclusion is simply not enough. To include people in society is just to have them there. All we have to do is make the church accessible, have the right political structures, make sure people have a cup of tea at the end of the service or whatever. There is a big difference between inclusion and belonging.

To belong, you have to be missed. There's something really, really important about that. People need to long for you, to want you to be there. When you're not there, they should go looking for you. When things are wrong, people should be outraged absolutely outraged that people are doing things against people with disabilities.[7]

We are the body of Christ, and so we should do everything that Christ's body did when He was here on earth. Where disabled people are concerned we should touch, embrace and love them as He did. Even after His ascension, Jesus gives us an astounding but clear example of physical love in action. In Revelation 1 the risen and ascended Lord appeared to John, His closest earthly friend. John saw him clothed with a long robe and with a golden sash around his chest. The hairs of his head were white, like white wool, like snow. His eyes were like a flame of fire, his feet were like burnished bronze, refined in a furnace, and his voice was like the roar of many waters. In his right hand he held seven stars, from his mouth came a sharp two-edged sword, and his face was like the sun shining in full strength. So awesome was the sight that John fell at his feet as though dead. And then Jesus did something truly remarkable. This towering figure placed His right hand on John. The only way He could have done so is by getting right down there in the dust and dirt where John lay. May we be willing to go to where disabled people are and be right there with them, touching them and showing God's love and care.

References [show]

© 2015 Ros Bayes

A Biblical View of Disability

Ros Bayes

About the Author

Ros Bayes taught Philosophy and Ethics A-level for ten years and has written 9 books including 4 A-level textbooks. She is the mother of 3 daughters, one of whom has complex multiple disabilities. Ros is the Training Resources Developer at the Christian disability charity 'Through The Roof' (www.throughtheroof.org). 
View all resources by Ros Bayes

 

You need to know your gifts all of this comes from all of the hard times we go though. The lessons we learn from our challenges we can help others and pass on this knowledge we have experience personally. We must develop trust in our self and in god spirit to move us and give us that gut nudge when we know enough is enough when we reach others and we do not get anything back for our energy and efforts. Disabled or not take time for yourself you can not give to others from an empty cup. Take time to reflect on lessons learned and pass those lessons on to other people so they do not make the same mistakes.

choose kindness and love and if you happen to come across a person with disablity or not treat them like they are of worth and of value that is how God would see it.

Thanks for reading I felt so strongly and passionate the bible study is one I did and followed along I felt I should share that'ss is why there is reference to it. It is a excellent resource website.

Let me know in the comment section below what you think about adults with disablity's

 

Faith.jpg

Beginners guide to 22q-An awareness post by Amanda Ripsam

My child has 22q11.2 deletion syndrome. I am not one of those moms who did not know what to expect when my daughter was born. I already knew I had 22q11.2 deletion syndrome because when I was younger my half paternal sibling had a seizure one year after eating turkey at Christmas one time and they had to run a ton of test to what caused the seizure it was low calcim storage levels in the blood and that lead to a genetic test called a fish test. After his fish test result came back positive we thought it was only him who had 22q. Next came my half paternal sister she too had a seizure when she was small again the doctors tested her for cause of seizures and then after knowing that my half brother has 22q they tested my sister as well. Next on the testing list was my father they tested him because of the research that it is 50/50 chance of it being either passed on or a random deletion.

The test results came back for my father and his test was positive for 22q11.2 deletion as well back then they labeled it digeorge syndrome located on the 22q11.2 deletion. Next up for testing was me at first I said there is no need to test me I have a different mom and it only 50/50 and I only had seizures when I was much younger like under a year old I did not have any other symptoms and was the typical teenager...

At 21 I met my husband and my step mom pleaded with me to get tested so I did because what if I had a child I would want to know if I had it too and if my child would have it also. I tested positive for digeorge syndrome 22q11.2 deletion syndrome at 21 years old just before my 22 birthday how is that for irony.  I took to online groups and boards to learn how it effected my siblings and father and make some friends so I could be supportive towards them. Another brother was born at the time I was tested positive and he too had 22q11.2 deletion syndrome. He was happy and healthy despite low calcium levels but passed away when he was 6 years old. My daughter was born before my brother passed away and I have been living in Michigan this entire time I met my husband so then when I was 24

After Bella was born she turned blue and started to have seizures. I had to get a rushed fish test my daughters doctor did not fully understand all of the risk and complications and she had to call infection diseases and all kinds of people and specialist to help us.

I am forever grateful we were put on the right path. There are so many family's, adopted parents, foster parents and caregivers who have a child in their mist or adult and do not even know that that person or them have 22q. 

I was lucky to have Bella born in Michigan I had the test done and results came back within 3 days some people wait much longer or do not even get to be approved to have the test we had to stay longer in the hospital Bella spent time in the Nicu unit and I had to have a bit longer recovery time while we had to find ways to get Bella to be able to eat since I couldn't breast feed Bella had soft palate where she couldn't' latch it was suppose to be the happy moment in my life but it was filled with scary moments and some of which I blocked out of my memory I mean the fainting part I didn't realize until a few years ago how close I was to not making a full recovery.

My body has not fully bounced back and I struggle now with gasteroparises and back problems.  Any how that is how we started our journey to 22q. That's the beginners guide to 22q.

After 10 years I have not only lived with 22q with the mild symptoms and how it effects me but raising my child who has 22q but her major issues is with cerebral palsy and my major issues is with gasteroparies. There you have it the beginners guide to 22q how to get tested, what test you need to take and the next step is finding a doctor who understands and knows how to treat the low calcium levels and blue baby symptoms if you can find a doctor who is caring and listens like we had been lucky enough to have had then that is the trick to living with 22q. Knowledge is key and hope! Doctors learning about this is the key to all of this.

22q can cause heart defects my daughter had extra blood pumping in her lower left chamber but it resolved after she was born she was discharged from the heart doctor with just a mild heart murmur.  Poor immune system but we lucked out and our immune is strong it is only our body internal core temp that struggles to regulate when we are sick but we are fine other then that we can have live vaccines we have been tested to make sure we could. palate anomalies between the low calcium and the low iron Bella and I both have which is treatable with medications we are doing well. Low levels of calcium in the blood storage level in the blood total calcium can read normal but the other calcium can be low and that treatable with calcitrio a life line for our family.

When we got the diagosnes of 22q is when we met with a ton of different doctors that is why I want to share this post while meeting with a lot of different doctors specialist even heart doctors some did not know what 22q was or what digeorge syndrome was it was shocking and frustrating trying to explain in laymens terms to a doctor in doctor terms. Early diagnoses and effective treatment of each symptom that pops up is the key to having a better quality of life. If neglected or ignored out comes can be deadly. Early interventions is the key to why Bella and I are thriving as much as we are.  There are some cases where there is no cure for the symptoms that show up like in my brothers case who passed away but there is hope if more doctors become aware they can share this info with the people who come to them for help either as children teens or adults.

I challenge you to share this post with 22 doctors not just doctors who are in the field of 22q treatments spread this post out side of the 22q community the old fashion grass roots word of mouth with out any fluffy fundraising events but just simply say hey you do you know what 22q is and wait for their reply and ask them if they know what 22q is and if they know how to treat a child or adult who walks into their office. That's the biggest hurdle is to get doctors to know what 22q11.2 deletion is and digeorge syndrome is called and all of the very different veriations of it that can happen based on where the location of the deletion is.

My site has a tab called what is 22q I encourage you to share it with 22 doctors. What are you waiting for share it now :)

 

Black and white.JPG

Sometimes we just have to let things go

.

.Checking off everything 22q related we were stumped on what to do for Bellas leg pains that kept her screaming at night. We were left wondering what do we do next. We took her to a pain specialist and not just any pain specialist but a doctor who specializes in locating pain and diagnosing pain. Within 10 minutes the doctor was able to figure out what we never could.  I have been learning more and more about what exactly cerebral palsy looks like. I knew the physical forms of cp you know people who are in wheel chairs or who use a cane but Bella uses neither of those. Infact if I did not tell you Bella had 22q or cp you would not have a clue anything went wrong at birth with her.

The invisible illness number 2 my daughter has. I do not worry about the cause because of how high risk and complicated my pregnancy was with her I am going to assume it was with that aspects. I had to learn to let some of my questions go and that we are doing all we can and have done for Bella

I have been told to help her breath through the pain those spasms and tears I watch her cry and wimper at night and we have her on backflen we also do physical therapy every Tuesday to address the pain and find different ways to try and relax the spasms.

I work with her spasms and knots and massage her but she does the hard part the deep breathing the crying and the letting out pain crys and the sighs in her face and the look of pain when I find that spot that knot is lodge into. The mini massage sessions last way into the night sometimes at 2 am I am woken up in her crys for me to help comfort her and rub her legs.

  If I had not gone through therapy I would not have been able to help my daughter with mindfulness and breathing relaxing techniques that seem to help keep her calm while I rub out knots and massage her legs and bottoms of her feet. I have it down to a science.

Bella can predict when we have storms and when it going to be super cold outside by the severity of her pain levels. The levels of inflamation in her blood labs are within normal limits. This time of year is the hardest and she been flying though with ease because of the physical therapy stretching and massaging we do every Tuesday. She misses out on so much school for medical needed appointments and if she didn’t have me fighting for her she would not do as well as she is doing. I am reminded why I write these blog post. I know there are so many other children who also have pain in their legs and 22q. The pains and leg spasms kids with cp are different then the pains that kids with 22q get. I know the difference I see it daily we tried the 22q treatments.

Bella teaches me that sometimes you just have to pray and breath though the pain no matter how tough life seems to get Bella will push through the pain. This week it was difficult she started swimming and had panic attacks because of her leg shaking getting on the ladder and into the pool she overcame it and actually got in the water which I am so glad to hear she is enjoying looking forward to swimming now. I know that when she is in the water it will help with her legs to stretch out her muscles and help her feel better.

Bella also had to miss two days of school she was sent home and had to miss out do to a temp of 100 the school sends kids home with a temp that high. I had to have her rest and recover and she is pushing through like a trooper back at school just 24 hours after her temp excited to enjoy swimming.

We have to sometimes breath though the hard stuff to get to the good fun parts of life. That’s what Bella teaches me and I am so thankful I get to be her mom and watch her grow and develop and mature into a lovely funny smart kind caring person she is. I am so looking forward to the rest of this year and all she will accomplish.

I am so thankful the biggest lesson Bella has shown me is sometimes we just have to push through the pains of life and move on with a smile on our face . Bella oven come her fear of getting into the poo she even did so right after recovering form that temp and completed her swimming test and is looking forward to swimming again this summer.

Sometimes we just have to let things go and not get worked up over other people's fears and concerns to make room for the positive things in life.

Lettings things go is now the thing I am trying more often.

I challange you to let some things go! List below in the comments what are some fears and concerns you need to let go of?

Bellatapething.JPG