Why Genetic Testing???

We have had a major breakthrough in therapy recently.  Jacob has been mimicking sounds of words for a while.  He doesn't use functional speech (asking for things or requesting or calling us by name) but he can mimic our words.  In therapy, Mindy has been reading him a color book every day.  Well, the little cutie memorized the color book with the "the end" and all and we get to have him read to us each day.  Talk about an amazing blessing!!! Also, Jacob has mastered the "all done" sign in sign language and uses it regularly when he is done eating or ready to get up from his work table.  This is such a tremendous blessing because he is communicating his feelings with us....FINALLY.  It only goes up from here. I can't wait to see how much he progresses within the next few months.  Hopefully, he will develop functional speech soon. Here is the video of Jacob reading his book with his Daddy.

 http://youtu.be/ayTYLCDNEV0

 

Recently, my mom took a new job at Dallas Children's Hospital and found out that if we get genetic testing there, we can get about a 70% discount for not having insurance coverage and paying up front.  We kind of thought genetic testing was a unreachable goal until now.  This means that the $6000 testing can now be around $1700.  Still sounds like a lot of money, right?  Even with that discount Cret still wondered if we should get it.  What are the benefits of genetic testing?  I asked that very questions to Jacob's pediatrician, neurologist, and a friend who is a geneticist (and an autism mom).  Their answers varied, but I wanted to give some insight to those who have asked me what good the genetics testing will do.  I am not an expert on genetics and know very little, but here are some of the answers I received.

 

Benefits of genetic testing:

1.  There are certain genetic mutations that can cause autism, these will be detected in testing

2.  There are certain genetic diseases or health issues that can be detected that may cause significant health problems in the future (as the child ages they may need to be on ventilators, etc) and you can plan for these financially and mentally.  Also, there are certain conditions that they know are more permanent, so spending your life savings on intense therapy may not be the appropriate option and saving for their future may be more appropriate

3.  Once you get genetic testing, you are "in the system" for the children's hospitals.  This means that research studies and scientists looking into the specific genetic mutations your child has will now be able to contact you with information or studies relevant to your child.

4.  The neurologist told me that genetic testing is the standard care for a child with autism.  She was baffled that our insurance didn't cover it because it is the most basic testing for kids on the spectrum.  She also told me that if it were her child she would definitely pay out of pocket to get it done because we can have a better understanding of what is going on with Jacob and his body and health.

 

For all of these reasons I have decided that I would love to get Jacob genetic testing.  I have decided to start saving up for it.  We can't outright pay for it because we would have to cancel Jacob's ABA therapy for about a month and a half, and I don't think it is more important than therapy.  However, it would bring great joy to my heart to get more answers about his health.  There have been some health issues with Jacob that we (myself, my husband, and my mom) have always been curious about.  His digestion is always off, he is extremely small, low muscle tone, always sick...and I am hoping eventually we can get to the bottom of it.  Like his neurologist said, this is just the standard procedure of care for him.  I realize it isn't an emergency to get the testing done, but what mom wouldn't want more answers to a health issue (AUTISM) that raises so many questions?  There is just so much still unknown and I would like to get the very best care for him possible.  I am not in a mega rush to get it done, but have decided to begin saving so that one day we can get him the testing. 

 

We have decided to begin our savings with a fun little fundraiser.  My sweet friend gave us the idea to collect donations from people for our neighborhood garage sale on March 23rd.  We have already had a few friends donate some pretty amazing things for this sale.  I am so overwhelmed and grateful by people willing to help.  Asking for donations and help isn't really the most fun thing in the world to do, but I am so humbled when people are willing to.  Thank you.  Also, Jordan and Skyler and Kaylee will be selling snow cones at the garage sale to earn money towards his genetic testing and we will hopefully have signage up for the worldwide autism awareness day on April 2nd.  April 2nd is "Light it up blue" for autism day and last year we had signs up, wore blue and had blue light bulbs in our outside lights.  My super sweet sister did that as well.  She is such an amazing gift to my life and our family.  Anyways, its a pretty cool day to raise awareness for people on the spectrum and the much needed research.  If you have a business that would want to participate in the worldwide autism awareness day or you personally want to light it up blue for autism on April 2nd please visit autismspeaks.org for more information. There will be some major businesses in downtown Houston that will be all blue for that day.  It should be pretty cool. 

 

 

 

 



Are you feeling loss and don't know why?

Often times people without a disabled child wonder why it may be harder for a family with a child with autism to accept or adapt to the disability than parents with children with other disabilities, such as down syndrome or cerebral palsy.  There are months and sometimes years that the parents live in anguish or sadness or desperation.  Recently, I was researching the topic of diversity and autism intervention when I happened upon some information that I thought would be helpful in explaining this.  (Tina, Wilder, Sudweeks, Obiakor, & Algozzine 2004) write about this very topic.  They wrote about the different stressors on families and how families adjust and adapt.  They stated:
                       "Families raising children with autism may be affected differently by the stressor of receiving the child's diagnosis than families raising children with other developmental disabilities.  Because many children with autism are born without any indication of behavioral, physical, or intellectual abnormalities, their parents have "normal" expectations for them.  Unlike parents who are informed of their child's disability near the time of the child's birth, parents of children with autism deal with the stressor of losing their previously "normal" child...It is possible that there are few developmental disorders of childhood that create such complex stressors for families as autism.  These stressors are complex not only because the disability is hidden behind a normal or even "beautiful" appearance but because behavioral manifestations may be physically and emotionally taxing on the family, diagnosis may be difficult to obtain, and coordination of services is often fragmented." 

I wanted to share this because there is often confusion about the issue of autism.  This confusion is not only affecting people who do not have children with a disability, but people who have children on the spectrum and often wonder why they are hurting and feeling such loss.  To make it possible for people to understand and sympathize sometimes understanding why people feel this sense of loss is important.  Sometimes the way other people handle situations puts great pressure on parents to "get over it", when if fact some parents are grieving a loss.  I, personally, have even encountered people who say that feeling sad about your child's disability is wrong and that people should be ashamed when they have feelings like that.  I cannot disagree more.  Do I and will I love my child with every ounce of love I have?  YES! However, do I love that he is autistic and cannot communicate, do I like that he doesn't understand simple requests, do I like that we cannot get him the help that I feel he needs, do I like that his life will be more difficult than most, do I like that my expectations of raising typical healthy children are no longer valid?  NO.  I believe I can be sad about that.  The question is what I do with my sadness.  What do I do with the grief?  Do I let if fester into depression?  Do I feel sorry for myself?  Others may try to get all "Psychological" about the grief and delve into your past, your future, or your hardships...But, I say you lay your burdens on God, the Creator of Heaven and Earth, who knows exactly how you feel and is the only one who can give you true peace amongst your sorrow and sadness.  You can gain this peace through a personal relationship with Christ.  I hope that the information provided from this research can help you to identify your feelings so that you can ask God for help through your grief, if that is what you are feeling and so that you do not feel like something is wrong with you for feeling like this.  It is very common and you are not alone.  Autism is a difficult and confusing issue, as are all disabilities.  I am also not intending to discount the incredible burden those may feel with children with other disabilities, only to clarify why some ASD moms feel a sense of loss.  I am puzzled every single day about new and strange things happening with Jacob.  I accept that this situation is sad, but it is what God has planned for our family and I fully trust Him and his plan.  I pray for answers regarding what I should do for him and in this situation and He gives me strength to get through it.  Its not enough to learn about autism and my feelings, but trusting God is enough. Also, moving on past my situation and allowing God to use it is important and healthy for healing.  I know that while I am feeling a loss, there has been the birth of a new and unique situation that God has allowed in our lives in order to bring glory to HIM. 

 ¹⁶ “For God so loved the world,^[i] that he gave his only Son, that whoever believes in him should not perish but have eternal life. ¹⁷ For God did not send his Son into the world to condemn the world, but in order that the world might be saved through him. ¹⁸ Whoever believes in him is not condemned, but whoever does not believe is condemned already, because he has not believed in the name of the only Son of God.
(John 3:16-18 ESV)

Have you not known? Have you not heard?
 The LORD is the everlasting God,
  the Creator of the ends of the earth.
 He does not faint or grow weary;
  his understanding is unsearchable.
 He gives power to the faint,
  and to him who has no might he increases strength.
 Even youths shall faint and be weary,
  and young men shall fall exhausted;
 but they who wait for the LORD shall renew their strength;
  they shall mount up with wings like eagles;
 they shall run and not be weary;
  they shall walk and not faint.
(Isaiah 40:28-31 ESV)

do not be anxious about anything, but in everything by prayer and supplication with thanksgiving let your requests be made known to God. ⁷ And the peace of God, which surpasses all understanding, will guard your hearts and your minds in Christ Jesus.
⁸ Finally, brothers, whatever is true, whatever is honorable, whatever is just, whatever is pure, whatever is lovely, whatever is commendable, if there is any excellence, if there is anything worthy of praise, think about these things.
(Phil 4:6-8 ESV)

 For I know the plans I have for you, declares the Lord, plans for welfare^[b] and not for evil, to give you a future and a hope. ¹² Then you will call upon me and come and pray to me, and I will hear you. ^{(Jeremiah 29:11-12 ESV)}

¹⁶ So we do not lose heart. Though our outer self^[a] is wasting away, our inner self is being renewed day by day. ¹⁷ For this light momentary affliction is preparing for us an eternal weight of glory beyond all comparison, ¹⁸ 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.

(2Cor 4:16-18 ESV)

The Neurologist Suspects Tourette Syndrome

The neurologist appointment today went well.  She spent about an hour with me discussing everything I had been saving up over the past year.  I forgot how extremely nice she was.  Anyways after watching him and explaining how his normal stimming is (slow repetitive movements, looks like he is on drugs) and comparing to his new rapid head movements, when his facial expressions change and everything, she feels that it is probably the onset of Tourette Syndrome.  She said the condition usually starts at this age and due to the rapid, not soothing nature of the movements she felt it was Tourette's.  She did not diagnose him because I was unable to tell her if he has any verbal tics.  He has a lot of repetitive sounds that have no meanings, but that is probably just stimming.  She told me that verbal tics are normally sounds made in the throat or heavy breathing or clicking.  I will look for that, but either way there is no treatment or cure.  Sounds so familiar.  Anyways she said that his head movements look like stereotypical "tics" which is what another pediatrician told me as well.  The bright side to this is that no medication or further action is needed.  She was positive it wasn't seizures and since he isn't acting like his head hurts she didn't feel like it was a more serious brain condition. 

Jacob was a nightmare in the waiting room.  It's like he knew we were at the neurologist and decided to put on a show.  He was jerking his head all around screaming repetitive sounds and running in circles and then opening and shutting doors about a hundred times.  He even grabbed a little girl and wouldn't let go.  It was bad.  I felt sad for him.  I kept trying to pull him out of it, but he was really worked up.  Then I had to fill out those dumb forms about his milestones.  Seriously, at what point do they stop making me fill out forms that don't pertain to him at all?  Its frustrating.  If anyone is wondering what the typical 30 month evaluations look like I took a couple pics.  I wanted Cret to see what Jacob is supposed to be doing according to the age appropriate forms they give us. In response to question "Are you concerned that your child isn't speaking as well as the other children their age?" I just wrote "He doesn't speak".  I tried to laugh about it instead of getting all sad.  Still is sad though.  As we were about to go into the office another child came in.  She was severely handicapped.  She couldn't move at all and was strapped in to her wheelchair and was making really loud noises.  I watched as everyone stared at her and her mom just put on a brave face.  I wanted to just give her a big hug.  Man, its so easy to be so sad and worked up when I am so focused on me and on Jacob.  We have it so good, don't we?  I just thought to myself, "I have to get out of this funk and change my focus and just give it God".

  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 the sake of Christ, then, I am content with weaknesses, insults, hardships, persecutions, and calamities. For when I am weak, then I am strong.
(2 Corinthians 12:9-10 ESV)

 

Bolting

Bolting is a common problem with children who are on the spectrum.  Jacob is a "bolter".  No matter where we are I have to have him in the stroller buckled up or be holding him as tight as I can because he wants to run in the opposite direction anywhere we are.  When someone opens one of our doors in the house he takes off running as fast as he can to get outside.  Until recently it hasn't been a huge issue for me.  Today, Jacob has discovered how to unlock the doors in our house. As you can imagine, this is extremely frightening to me. Luckily we have chain locks on our doors, but we have to remember to use them every single time we open them and we have to make sure anyone who is watching him remembers to do so. I haven't gotten to the section on treatment plans for this behavior in my studies yet and was wondering if anyone had any advise on how to start teaching him not to bolt.  I would absolutely love to be able to walk with him into church or different places holding his hand without him trying to sit down or wiggle out of my hand in order to take off running. As frustrating as all this is, I am really happy that he is learning how to do new things. He is also doing amazing in ABA. She is currently teaching him shapes and basic noun identification like umbrella, chair, pencil, etc.

We are heading to the neurologist today as a follow up since he hasn't been in a year and in order to show her the videos of Jacob's unusual head movements. I feel like it is probably just visual stimming, but is like to make sure. Please say a prayer that all goes well. 

Encouragment for today

Today I found myself re-reading a pamphlet I got from church a while back and it just made me so happy because I often need a reminder of Gods truth in hard times.  I don't know the rules of plagerism on blogs but I am going to word for word copy some of this (except adding in my sons name).  I want all of the other moms with children with disabilities to be able to be uplifted by it as I have been today.  This is taken from "Help for the Caregiver" by the Christian Counseling and Education Foundation

"When we use a phrase like, "he's the spitting image of his father," we usually mean that the son displays the physical characteristics of his earthly father.  He looks (and perhaps acts) like his dad.  In a similar, but far more profound way, we resemble the God of the universe, both in his character and actions.  You and the person you are caring for are created in the image of God (Genesis 1:26-28; Psalm 8:4-8).  God made us to reflect his image to the world.  We don't do this perfectly because of sin and disease, but no matter what our disabilities, we never stop imaging God! Jacob is no less an image bearer because of his autism than someone who is not autistic.  The person you are caring for also bears God's image.  The Gospel is about renewing the true image of God through Jesus (Ephesians 4:24; Colossians 3:10).  This process is not derailed by illness and disability.  Instead, God uses these things to make us more like him.  God promises he will complete the work he began in each of us (Philippians 1:6).  This means that God is doing his transforming work in the person you are caring for and also transforming you as you face the challenges of caregiving.  He is perfecting the character of Christ in both of you in the midst of your struggles.....In the Bible, depending on others is the normal way to live.  Please don't suffer in silence; instead ask for help.  Ask family, friends, and your church community to help you.  And then accept the help that is offered.  Even if those who help might not do things exactly like you, they can still be a blessing to you.  Combat your tendency to be "the indispensable one" by sharing your struggles with those around you and accepting the support that others give."

I had a lot going on this weekend.  I was in training for grief counseling Friday night and all day Saturday and I went to a support group with other moms of autistic kids on Saturday night.  All I can say is that it was a heavy weekend.  One interesting thing that I learned in the training was that we are not a society that allows people to grieve.  Companies only give 2-3 days off for the death of a child.  When people are still crying a month later others often wonder "whats wrong with them" or "haven't they given it to God?".  The Bible never says not to grieve.  It says to mourn with those that mourn.  In a similar way, I feel that sometimes us special needs moms feel the need to always put on a strong front for everyone.  We don't want to admit that sometimes we just need prayer, or a hug, or a shoulder to cry on.  I loved meeting with other moms that have gone through similar, if not harder times than I am with my little guy.  However, as I suspected, I left feeling sad.  Some part of me wanted to go there and hear a bunch of people telling me everything was going to be just fine and great and in a year it'll all be ok.  I wanted to hear great stories about insurance and the public school system and how special ed changed their childrens lives, but unfortunately thats not the  case.  I heard from moms struggling with the very same things I am.  I heard about children getting hurt in class and I heard about how the moms whose insurance does cover ABA were so thankful and the ones that don't were so upset.  I did hear about a few exceptional teachers and it wasn't all sad talk, but because it was my first time in a setting with all ASD moms I felt a little overwhelmed taking it all in.  Maybe it was a big reality check for me.

I am so so thankful to have found this group because they are all so kind and they gave me so much information that I will need in beginning the journey through special education in the public school system.  I was able to see how these women unite together in order to encourage each other and share their struggles.  I could openly talk about what I was feeling and I could know that they knew exactly what I meant.  I have to just encourage you to find a group if you do not have one.  Know that it may not all be talk of rainbows and sunshine, but you will be fed with important informaton, and you will encounter people that know just how you feel.  That is blessing to me in so many ways. 

"Providing holistic care to someone whose chronic illness or disability you cannot fix is both difficult and redemptive at the same time.  Let Paul's words encourage you today: "Therefore, my dear brothers, stand firm. Let nothing move you.  Always give yourselves fully to the work of the Lord, because you know that your labor in the Lord is not in vain" (1 Corinthians 15:58).  God has entrusted you with a unique opportunity to minister the gospel of Jesus Christ in both word and deed.  Although you may sometime feel that no one knows what you are going through, God sees you.  he knows all about your struggles and sacrfices and he is with you, ready to help you in your time of need."
 

Gods Word About My Struggles With Autism

These are just some personal struggles that I have faced in this journey and some of God's Word that has gotten me through it all.

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To stim or not to stim?

Stimming is any repetitive movement that is believed to stimulate one or more of the senses. 

I have read a lot of research regarding this very question.  To stim or not to stim? Most BCBAs (board certified behavior analyst) would say not to let a child stim because there is no purpose and it may interfere with everyday functioning.  Grown adults can't stop in the middle of their job for a sensory scratch or to run in circles around the office.  Occupational therapists and other teachers and caregivers of children with autism often allow some sensory input or stimming for a brief time so the child can organize their feelings.  After all, we, as "typical adults, have sensory issues that we address.  When I am cold and tired I love to take a hot bath before bed.  Its very hard for me to go to sleep without one.  BCBA's and some neurodevelopmentalists agree that if you interrupt or don't allow the stimming it will eventually stop all together and the child won't desire it anymore either.  I often wonder if there is any research merging ABA with some sensory input.  What if the child was able to learn more or pay attention more if they had brief sensory input sessions or time to stim a little to organize their feelings?  Anyways, these are my ongoing questions regarding Jacob's stimming.

Update on Jacob's health and development:

Lately, Jacob has developed an obsession with doorknobs.  He loves them.  He grabs them and wiggles his fingers all around them, he smiles at them, he looks into them and slowly walks backwards away from them all while making sounds.  I wonder what in the world he is thinking.  I thought he was acting like that because he saw his image in them, but he does this even with the ones that aren't shiny.  Maybe since he sees his reflection in some of the knobs he feels like a little person lives in all of them.  I don't know, but he is absolutely infatuated with them. The kid loves doorknobs.  He is still playing with his shadow all of the time.  He holds his shadow's hand and runs all around the house.  Its pretty cute.  Recently, he also started screaming and slapping his stomach when he is upset or told no.  He has not yet addressed Cret and I as mommy and daddy, but can distinguish our individual pictures from other family members in therapy when asked to pick which one is mommy or daddy.  He is fully requesting objects with his pecs in therapy and is about to start learning verb pictures. He hasn't generalized the PECS system to the outside world yet, but it will happen soon.  He still sometimes plays with the PECS instead of using them solely for communication. Jacob is now requesting that his sister chase him and then scream "BOO" in his face.  He requests it by dragging her around the room and sitting down in front of her.  He loves to play chase with Tyler and Jordan.  He gets very engaged and looks directly at them.  Although he is not pointing for things yet, he does drag us over to whatever he wants, whether it is the fridge or the Ipad.  He loves books that make noises and loves driving cars around.  He still puts everything in his mouth.  I feel like that is why he is always so sick.  I can't wait for him to be out of the chewing on everything stage.  He still runs in patterns and circles and is still having the strange jerky head movements.  His ABA therapist believes it is visual stimming because when she has observed these movements it was always after looking at light out of the side of his eyes. He won't take a nap or go to sleep without his heavy blanket.  We often have to hide it from him because he wants to roll around on it all the time.  He is still very tiny.  He is now 31 months and can easily fit in 12-18 month clothes.  We have inquired about his size often at the doctor and they have said that he may just be a very small guy.  I feel like there is something more to it, but only time will tell I suppose.  He is singing more and more songs.  Some of the words sound very similar to the actual words and some sound more like beeps, but he is trying so much more.  His newest song is Twinkle Twinkle Little Star which sounds like kweekul kweekul eeeeee uuuuu awe.  Its pretty darn cute.  So thankful for this little guy and the progress he is making.  He will occasionally answer with "yesh" when I ask him if he wants certain foods that I know he loves and then say, "Tell me yes, Jacob".  Its amazing to hear him say that, however, I think he would mimic any sound I told him to say in order to get the food he wants.  HAHA he is a good eater.  What that does mean is that the therapist has taught him that when we say,"Tell me....." it means to repeat what he said.  That is good news.  It may take him a while to catch on to what yes means, but I have faith that he will.

Anyways, I just wanted to post an update about his behavior and progress.  Feeling blessed that he is still so lovable and sweet and happy.