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A Thought on Speech Delays

I love that I have discovered the stats on my blog now.  My favorite thing, right after looking at how many people have visited my site, is looking at the search terms that people have used to get here.  It helps me to see what people are looking for and gives me ideas of how people have happened upon my site.  One search that popped up this week was “Do babies with DEND syndrome talk”.  I wanted to address that in this post, although please keep in mind, this is my own layman’s opinion and not the information from the doctors.

The short answer to this question is yes.  More specifically, my own children are both verbal in their own way.  Andy is 9 now (almost 10) and is echolalic.  He has a huge vocabulary including some choice words that we wish he wouldn’t repeat.  He gets in trouble for saying those on the bus, even though we have told the aid repeatedly that the more she pays attention to it, the more he is going to do it.  We catch bits and pieces of his day as he sits at his computer game and dinner.  We will hear snippets of conversations that he overheard throughout the day.  Even with all of that, though, he still can’t have a conversation with you.  He tries, but when he really wants to tell you something, it comes out all mixed up and nonsensical.  It’s frustrating to me as a mother so I can only imagine how frustrating it can be for him.

Katie is totally different.  Her speech pattern, according to all of the speech therapists we’ve seen, is following the normal patterns, but at a much slower rate.  She is 5.5 years old now and still speaks like a 2 year old.  We have been battling screaming with her for nearly 5 years now.  She just absolutely refuses to use her words, but we are trying to draw it out of her.  When she starts to whine and fuss that she wants something, we try to force her to use her words.  Not only that, though, we try to get her to use sentences.  Instead of “banana please”, we make her say, “Mommy (or Daddy), may I have a banana please?”  We’ve gotten pretty far with that one and she will now say some combination of that, like “Iiiiiii, WAaaaaan banana peas mommy”.  Now who can refuse that cute face she makes when she says that right?  Overall, Katie has more conversational speech than Andy, but it is still not at a real level of conversation.

The longer version to this story is that the possibility of a baby with DEND syndrome having speech has a lot to do with which particular mutation they have as well as probably a whole host of other factors.  From my own conversations with other families, I have noticed, that within the V59M mutation family, the boys, for whatever reason, tend to be more severely delayed than the girls.  There is one girl that I know was speaking at two and has no delays in speech at all.  There is also a little boy who is just one year younger than Andy who barely speaks at all. There seems to be a range of severity that varies within mutations as well as on the KCNJ11 gene itself.  Some mutations like the R201H and R201C families tend to seem like typically developing children but then have some struggles as they get into school and academics.  Then there are other mutations, especially within the DEND syndrome family that are so severe, they can’t even walk until much later in life.

Again, this is all just in my own observations, but the frustrating part of answering that kind of question is that there just aren’t enough patients to even to a good study on it.  That I know of, there are only about 15 kids in the US with the V59M mutation.  With the varying ranges in age, age of diagnosis, age of transition to the sulfonylureas, and just plain variations in the human genetics, there’s just too many variables to tell how much of the symptoms are caused by the genetic mutation and how much the severity of delays are caused by other factors.  My best piece of advice for any parent going through the beginning stages of DEND (or any other diagnosis you are dealing with) is to get as much help as you can.  Get your child evaluated through the birth-3 program in your state (if you are in the US) and get speech and occupational therapy early.

There is still so much we don’t know and so much research to be done.  We are learning as we go, which is the most frustrating part of having a child with a rare disease/syndrome.  Often, we as parents know more than the doctors. We are “pioneers” in the new treatment of this rare type of diabetes.  We can only pave a path, one day at a time, for future generations.  And hopefully someday, I will be able to talk to my children.  For now, I’ll settle for this little birthday wish that I received from my sweet husband while I was at work yesterday:

 

Update

I know it’s been a while since I’ve done a major update.  Life has happened.  I have been back at work full time since August of 2014 and had a part time job that felt like a full time job from August 2012-June2014.  That being said, I feel that I need to get back to blogging at least on a part time basis.  So much has happened and we have reached so many milestones with the kids in that time, but the journey is still confusing and frustrating.  I still have new families find me through my blog and I feel like having the most up-to-date information on this site will be a necessity.

Yesterday, a documentary was shown on the PBS station in Chicago.  It was called Journey to a Miracle: Freedom from Insulin.  I have not seen the documentary yet, but I hope that it shows some of the challenges that some of us face, even though we did experience the miracle of taking our son off of insulin at 21 months of age.  While I agree that was a miracle, and hope that many more families can experience this same miracle for themselves, we still wait for the other miracles every day.  I pray that some day, I will be able to talk to my son in a real conversation.  I pray that some day, my daughter will be able to go to college.  I pray that some day, my children will experience love beyond our family.  But above all of that, I pray that they will live fulfilling lives.

It seems so far off right now, but I can say that there have already been miracles.

Andy became fully potty trained (day time) when he was almost 8 years old.

Katie became fully potty trained (day time) this past summer at 5.

Katie finally outgrew the screaming in the car phase (we’re still working on the screaming at home) and we are able to take at least short trips as a family now.

Andy is now reading site words and counting to 9 independently.  He can also write his name with some assistance (holding his wrist, not guiding).

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One of the biggest milestones has been reached in just the last few days.  I’m almost afraid to write it down for fear he will regress as soon as I type it.  Andy has chosen for the last month to not wear diapers to bed.  It was a never ending round of washing bed sheets, underwear, t-shirts, and blankets.  But he absolutely refused to wear the diapers.  And then it happened.  {cue the angels singing the “Hallelujah” chorus}!  For the last 3 nights, he has been completely dry and slept through the night!!!!!!

What miracles have you experienced lately with your special needs kiddos?

Site Under Construction – Exploring the Purpose of this Blog

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In the beginning when I started this blog, the reason was to spread awareness.  I knew that my husband and I became frustrated for years by not being able to find information on the type of diabetes my son had.  No matter what search we put in, the information about “babies with diabetes” just didn’t exist.  At least not in the way we needed it to.  As time has passed, our unique situation has changed and evolved into something we could have never anticipated.

Now we live beyond the “Miracle of Glyburide” which enabled our son, and subsequently our daughter, to live with diabetes free from insulin shots, pumps, multiple daily blood sugar checks and counting every carbohydrate that entered their mouths.  After that miracle, our lives turned into a daily struggle.  A daily question of what will come next.  A day by day account of doctors telling us “we don’t know, you are the expert”.

Amidst all of our day to day struggle, regardless of my lack of posting, I still receive comments from parents who have just had a little one diagnosed and want answers.  So I have decided to attempt a site change.  I am going to attempt to add pages to the blog and revamp the site to be a diary of sorts.  I want to tell our story, but I will save that for the book (if it ever gets published!).  What I want this site to become is a place new parents and struggling parents can go to for answers and tips.  I have some ideas of what the new site will need to contain but I also need your help to tell me what you want to see or need to see.

Over the next month I will be posting and adding pages.  I am also going to rename the blog because it will be more than just about the kids.  I want it to contain information for caregivers too.  Due to the nature of how rare their particular mutation is, the site will also broaden to encompass other diagnoses.  Specifically, I will include research and tips on how we deal with ASD (autism spectrum disorder), SPD (Sensory Processing Disorder), family time with special needs kids and tips on how to organize all the paperwork and therapy tools.

Bear with me as I redesign the site and feel free to comment with your ideas or your own tips.

Miss Independence

The ear-piecing scream echoes in my head as I sit at the table watching her eat. She has a sweet angel-face on right now, but I know, like a light switch, she can easily flip on the face of discontent in 0.2 seconds. I persist through breakfast with a quick “a-a, eat please” every time I see the look on her face or hear the beginning of a whine.

We are in full -blown potty training mode with Katie now. Our sweet, nearly 4-year-old daughter is starting to go pee-pee and sometimes poop on the potty but still doesn’t quite have the connection to be able to tell us she has to go. It is this lack of connection and, to some extent, her inability to communicate that is causing her to rebel. Katie has an independent spirit which will serve her well in the future. But her need to assert that independence is driving us crazy right now. She doesn’t want to sit in her chair to eat (she’s perfectly fine if she sits on your lap or walks around with her food). She doesn’t want to sit in the car seat and will scream the entire time until she is extracted ( at which point she will greet you with a sweet “hi” and bat her eyes at you as if nothing traumatic has just happened).

I don’t know exactly why this is happening again (we just got done with the 2 year screaming in the car seat jaunt about this time last year). My theory is the potty training because it is forcing her to grow up. Of course it could have something to do with increasing her glyburide dose too. It’s hard to isolate the cause when we don’t experiment in the sterile controllable confines of a lab. My scientific brain is formulating hypotheses while my logical brain realizes there will most likely never be a real answer.

So for now, we wait. We persist through the screaming. We don’t give in to the inappropriate demands of our “Miss Independence”. This too shall pass!?

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Spreading Awareness

One of the problems of having a rare disease is that awareness does not spread very quickly. It surprises and saddens me that we are coming up on 10 years into a new treatment for about 90% of patients with Neonatal Diabetes and still the estimated undiagnosed are in the thousands. Three years ago at the conference in Chicago, I remember the slides showing the numbers worldwide. Reported cases of different ND cases were just under 500. This year, the numbers were just over 500. I still find families in the Type 1 Diabetes community who don’t know about it and could possibly be tested for it. As for doctors, unless you are in the field of pediatric endocrinology, sadly, it’s unheard of.

So I’m on a mission. I want to spread awareness of this rare disease with a “new” life-altering treatment. I am back to working on my book with a passion and will begin sending out query letters to agents very soon. I am also contacting local news stations with our story in hopes of one of them picking it up soon. I think I will also try some other routes of exposure by working on some magazine articles and trying to get them published. I know that just being a blogger doesn’t make me a writer and I’m sure I need a lot of work to turn me into a true writer. But I also know that with enough passion and a loud enough voice, our story can touch the lives of families throughout the world.

If you would like to help me spread the word about this very rare but important disease, please comment, tweet, or post this on Facebook. Together, we can change lives.

Here is a link to the recap of the conference in Chicago. http://kovlerdaily.com/2013/07/celebrating-miracles-milestones-a-recap/