Friday, April 18, 2014

Special Needs Spotlight || Imogen




Hi.  My name is AnaLisa and I am a mom to a beautiful 3 year old and a really active 23 month old.  My husband and I currently live in San Antonio and are just enjoying life.  Our daughter, Imogen, was born a healthy, normal baby girl.  When she was 21 months old we found out she had a mutation in her MECP2 gene, which meant that she might have Rett syndrome.  One month before her third birthday she officially got diagnosed with Rett syndrome.  She doesn't walk or talk but has some hand function and is the happiest little girl.  She is the sunshine in our lives and we feel blessed to be her parents.

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Miggy:  Hey AnaLisa!  So excited to be spotlighting you and sweet Imogen today--especially since we actually get to see you guys every week at church!  So like many kids your Imogen was born seemingly healthy, then started to regress around 18 months old.  Can you take me back to those first signs that something wasn't right?  How long did it take for you to get a diagnosis and do you remember how you felt?  Can you compare those first thoughts and feelings with how you feel now?

 AnaLisa:  We first noticed something wasn't right when she was 9 months. She wasn't crawling or attempting to and was not sitting up.  We were also struggling to get her to gain weight. She was diagnosed with hypotonia or low muscle tone at 9 months but we were told that most likely she would grow out of it.  She started therapy and her improvement was very slow going.  At 15 months we added OT and speech to her therapy.  At 18 months she started finger wringing I had heard about Rett syndrome from another mom at church and had researched it.  Her neurologist also had hinted about it and I was worried that she had it. So we had her tested when she was 20 months and got our answer at 21 months.  Though she wasn't officially diagnosed for another year and a 2 months. Our journey was about 2 years.  When I first found out that she had a mutation I was devastated and then hopeful.  I allowed myself to mourn for a couple of weeks and then remembered that she hadn't regressed and that she could be a mild case. I did cry a lot but I also had a newborn so I had to be strong.  My husband was also my rock and kept telling me how amazing and awesome she was and how everything was going to be alright.  When she was officially diagnosed,  I was a bit sad but it didn't last long as I had a whole year to prepare for it. I just thought that she was going to rock it and prove everyone wrong.  I am in a totally different place now than when I first received her diagnosis.  I am excited for her future and can't wait to see what she can accomplish.  I feel like the sky is the limit.  I think part of it is that she is an amazing girl and part of it is that there are amazing doctors that are working hard to find a cure and treatments to help unlock these girls.  


Miggy:  Explain how Imogen's needs affect your day-to-day life?  

AnaLisa:  Imogen depends on us for everything. Even though she can finger feed herself and grab a preloaded fork feed herself with it; I have to supervise her.  I have to change her diapers and I have to figure out what her wants and needs are as well.  When we go to the park,  I have to leave her in the stroller so I can run after her little brother unless my husband is with us. I can't just go to the zoo by myself with them as I need help so I can look after her brother.  I am hoping that will change some as he gets older. I also can't leave her by herself for small amounts of time for fear of her falling back and hitting her head.  We are very lucky that she is pretty healthy and does not need a g-tube or have any extensive medical needs.  Her main issues are with her gross and fine motor skills.
                                   

                                                     
                
Miggy:  What are the biggest worries you face for Imogen?   

AnaLisa:  I worry about whether or not she is going to be accepted by her peers and whether or not she is going to be mistreated at school and us not knowing about it.  So far or fears have been for naught. It is always hard when you have a nonverbal child and they can't tell you what is going on.  I just really hope that people will see her potential as much as we do and that they will treat her with the same amount of respect and dignity that they would any other person.


Miggy:  How can people best approach or respond to Imogen? Is there something you wish other people knew so as to avoid awkward or hurtful situations?

AnaLisa:  I really want people to know that she understands everything that is going on around her.  Just approach her and speak to her like you would any other 3 year old.  She might not respond the way that you would expect her to but she really does get it.  She has a way of communicating with her eyes and facial expressions that if you just pay attention to you will know what she is trying to convey.  Plus she has a wicked sense of humor.  In general,  I think that people just need to be understanding and less quick to point out differences.  Yes,  I know that my daughter is mouthing after she put her hands on your dirty store floor but you don't need to point it out nor do you need to make eww sounds or ugly faces.
  



Miggy:  I know from firsthand experience what a special role siblings can play in your special needs journey.  Is there anything you’d like to share about your son his relationship to Imogen?

AnaLisa:  He can be so helpful and really sweet to her.  I have found him comforting her when she is upset or trying to give her her pacifier.  Once when her cousin took something from her,  he grabbed it from him and gave it back to her.  I am really excited to see their relationship grow as they get older.

Miggy:  Right now your family is preparing to go to Boston for Imogen's medical care.  I'm curious to know more about the treatment as well as how a family prepares for a journey like this.  Is this a special program you had to apply for?  Cost wise, is it strictly out of pocket or is there any help for families who face the dilemma of getting medical care a long way from home?


AnaLisa:  We had to apply for it.  When we first inquired about it she didn't qualify because she was too young. I had heard that they were having trouble recruiting families so we figured we would try to apply. We hadn't heard from them so on her third birthday we decided to call them. The day before they had decided to lower the age requirement and they were about to call us. We applied and four weeks later we found out she cleared the pre screening. The clinical trial is for the treatment of Rett syndrome with IGF-1. It is supposed to help with their breathing problems, hand movements and other symptoms.  Some girls had regained some of the skills they had lost.  Unfortunately since rett syndrome is rare there isn't a lot of funding for clinical trials so all travel costs are incurred by the families.  There also are not a lot of organizations that help with traveling costs for clinical trials.  I know some families are holding garage sales and other fundraising activities.  We started a crowd funding site and we are also planning on holding garage sales and zumbathons.

Miggy:  If you could say something to the mom who just starting on this Rett's journey, what would you say?  What would you say to yourself if you could go back in time?   

AnaLisa:  Don't give up hope.  There are currently 4 clinical trials that are happening right now.  The amount of research and the progress is astounding. If a  cure is not found in our lifetime,  I truly believe there will be viable treatments.  Also,  don't forget that she is the same girl.  I wasted so much time waiting for her to regress when I found out that she had a mutation that I forgot to enjoy her.  I would tell myself that everything is going to be Ok and that she has a bright future.  I would tell myself to enjoy her for her and enjoy all of her accomplishments without wondering if they were going to go away.



Miggy:  What is the biggest lesson you’ve learned since becoming Imogen's mom?  

AnaLisa:  There are so many.  I think the biggest lesson I learned is one of faith and hope. My faith was pretty shattered and I almost lost my belief.  It took me some time to see the blessings that were coming into my life because of her.  I learned that miracles can come from ways that are not expected. Another lesson that I learned that is equally important is to enjoy life and every milestone.  I think sometimes I am really easy on her brother just because I am thankful that he can do things that she can't.  I once heard a mom tell her daughter that she was sick of hearing her talking and to be quiet.  It took everything in me not to turn around and tell her how lucky she is that her daughter can talk and that she needs to appreciate it.  I really try not to take life for granted any more.  I also do not judge parents whose kids are acting up.  Imogen looks "normal" but she isn't. That kid throwing a fit at the store might have autism or sensory issues.  Don't judge parents, you never know what their life is like.  I also just want to add some links that might help others learn about Rett Syndrome or a little more about us.
http://rettsyndrome.wordpress.com (This one talks about current research.)
https://rally.org/crandall_boston (A little more about our story and our upcoming trip to Boston.)

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Thanks so much AnaLisa!  That was fantastic.  I love seeing our girls at church in their matching pink wheelchair/power chair's.  They are so cute together.  I'm so glad that you advised people to talk to Imogen like they would any other 3 year old.  I admit that before I started this series I would not have known to do that--seems so obvious to me now!  But like you said, Imogen understands everything around her and I think a lot of people with differences understand more than we may give them credit for.  And for those who don't cognitively understand, they still deserve to be treated with the dignity and respect that you would give any other human being--so either way it's just a good rule of thumb.  Thanks for sharing your story and hugs to those beautiful babies of yours.  

As always if you or someone you know would like to participate in the special needs spotlight please email me, or have them email me directly, at thislittlemiggy at gmail dot com.

Have a great weekend!

2 comments:

  1. I sure love your little sweetheart! So grateful to know you guys!

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  2. Thank you for sharing. I am blessed to have a friend with a retts daughter in my life. My son regressed at age 18 months, so I know what's it's like to loose what you once had. At the same time a friends daughter was regressing. Emily now 20 was one the girls used to help isolate the gene..and she is still helping in clinical trials and helping pave the way for younger girls. I hope and pray one day retts is as simple as we know what it is and we can fix it. Always feel an extra bond with retts...keep sharing...there WILL be a cure one day!

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