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Ryan’s Story January 11, 2012

Filed under: Uncategorized — ryangrace11q @ 11:46 pm

Ryan is 3 1/2 months old and at 2 1/2 months she was diagnosed with an interstitial deletion of her 11th chromosome.  This is extremely rare and her deletion is pretty large.  This is a little history of her from pregnancy through her diagnosis.

24 weeks pregnant:
I went in for level 2 ultrasound to make sure Ryan didn’t have the same heart abnormality that showed up in one of the donor’s other offspring (we used anonymous donor sperm). Heart looked good, brain looked malformed. First thoughts were that she had what is called Dandy Walker syndrome and that part of her cerebellum was missing.

25 weeks pregnant:
Had a fetal MRI, which means I had an MRI, and results looked good. Brain was actually all there, but she had a benign cyst called a Blake’s pouch cyst near her cerebellum that was pushing it up a little bit. Docs thought that it actually looked like it was already shrinking compared to ultrasound and they were extremely optimistic.

Rest of pregnancy:
Weekly ultrasounds from 30 weeks on, more because of my Graves’ disease, and all looked good.  The very last ultrasound showed the high end of normal for my amniotic fluid. Doc said don’t worry but I pressed and he said that sometimes it could mean that there is a chromosomal abnormality. We tried not to worry because everything else looked good and it was still normal.

Ryan arrives:
She is 4 days early and will not latch on to me – at all. We give her formula and I pump and she really has a hard time eating and keeping it down. Peds in hospital also notice that she has a simian crease and a sacral dimple. I noticed that she has very small nostrils.

Week 1:
At first pediatritian visit at our normal doc, she noticed a very small fontanelle and lower set ears. We go in for a head ultrasound to check on the cyst (which was already planned before she even arrived) and doc recommends meeting with a geneticist about her features. Seems that the Blake’s pouch is gone but they see bilateral choroid plexus cysts – nothing to worry about they say. Geneticist looks at Ryan. Sees all her features and doesn’t think that they look like any particular syndrome and thinks that she just kind of resembles me – thin nose, uneven ears, and I also have a simian crease. She tells us that choroid plexus cysts sometimes show up in various chromosomal abnormalities and offers testing. We decline and choose to see how she progresses.

6 weeks:
By now Ryan is on special formula and her 3rd medicine for reflux. She’s having a lot of trouble eating still, lots of pain, lots of spitting up, not gaining weight well. She hasn’t smiled yet and I notice that she’s not giving eye contact or tracking objects. Our ped says that we need to go ahead with genetics testing to see if there is something really going on. She also has torticollis of the neck and is getting a flat head. We start PT the next week.

Weeks 6-10:
This part is a blur but the bottom line is that Ryan does have a chromosomal abnormality to #11. She has had to give blood for tons of testing (I have too). We won’t have a diagnosis for a while, the testing takes a long time but we meet with Genetics next week and hopefully will get some answers. We have been to many doc appointments for PT, gastro, and eyes. She has had an upper GI scan and will go in for a swallow test next week. Meeting with a specialized feeding team in 2 weeks and she’ll have a scope done within the next month. The opthalmologist appt. yesterday revealed that she doesn’t see well and that her optic nerve is greyish – it should be pink. Doc wants another MRI. We had a bad experience with that doc and she didn’t want to hear us when we told her that she has starting tracking objects. We practice all the time with black/white pictures and toys and she’s doing a lot better. We have to go back in a month but she really wants to see what the genetics tests reveal.

2 1/2 months:

Ryan was at physical therapy for her neck and got so upset that she vomited, choked and turned blue. She was finally able to get a breath, meanwhile the squad was called but not needed. A doc rushed right in and we took her to a room to check vitals. She recovered OK but doc called our ped and she is having Ryan admitted to the main campus of Children’s today for overnight observation. While there, we will be meeting with all the feeding team specialists that we were supposed to meet with this Thursday. Docs are all very worried at this point because the swallow test that she did last Friday showed that she aspirates while feeding and refluxes into her nose with each swallow.

Ryan recovered from the choking and turning blue incident pretty quickly. At the hospital she was hooked up to all sorts of machines which really upset her but they had to watch her closely. She ended up having 2 EKGs because something weird was showing up on the monitor but it was just a blip and all seems fine there. We didn’t actually get to meet with the feeding team people like we thought but a GI guy came in and we talked about a feeding tube a little bit. We will meet with the feeding team on Thursday as planned.

But here’s the real deal: We met with the geneticist and got the final diagnosis. She has what is called a “interstitial deletion” of chromosome 11. Chromosomes have 2 parts, the top is the short arm and the bottom is the long arm. Ryan is missing a part of the long arm. Not the bottom though (which is what we originally thought – which would mean Jacobsen’s syndrome) but a central part is missing and the bottom took the place of the central part. Unfortunately it’s a large deletion. The larger the deletion, the more likely the delays – physical and mental.

There is no name for this – there are only about 20 known cases EVER. Now, that doesn’t mean that there are only 20 people ever to have this, but only 20 documented cases of this EVER. We have some information on it, but if you google it, you probably won’t find much.

We have mixed emotions about this. For one, it’s not what we wanted to hear. We have made contact with families of Jacobsens syndrome kids and it has given us so much hope to see these kids progressing and happy. But it’s not Jacobsens. It’s the unknown.

3 months:

First, the happy stuff! Ryan seems to be getting her smile on! Santa came to our house on Friday because Katie had to work both Saturday and Sunday. Charlie gave Ryan a rattle that looks like a zebra (Ryan can see black and white objects) and when we shook the rattle for her she smiled – a lot! More smiles came over the weekend for the rattle and one even came for me just a few minutes ago! I’m up for a feeding right now and when she was done eating I started making funny noises to her and she cooed right back and gave me a big grin!!!!

She’s doing better eating. She’s eating more quickly and eating more at a time… about 2 1/2 to 3 oz each feeding which is still not a lot but it’s great for her. And she’s telling us when she’s hungry more often. That’s a big step. She’s rarely spitting up now and it’s not coming out her nose. All of this means that she’s getting stronger and more muscle control and her feeding skills are increasing. She has started feeding therapy and they are already very happy with her progress!

We do have a bump in the road though. When Ryan spent the night in the hospital a couple weeks ago after the choking incident, her heart rate was doing weird things while she was hooked up to her monitors. She had 2 EKGs and we found out that it had might have shown a heart issue. The cardiologist is concerned that one side of her heart is stronger than the other. So we’ll be at Children’s again tomorrow for an echocardiogram. Hopefully it will be nothing because we need a little good news.

Ryan’s echo results came back and she has what is called a patent foramen ovale which is a hole between her left and right atria.  She also has hypertrophy of the right ventricle.   The ped said that it shouldn’t pose a problem and that it is “small and mild”. A lot of people have this and many times it will close on its own. This is the reason her heart rate was looking weird on the monitors a few weeks ago. We will still have to check in with the cardiologist soon though just to make sure it’s OK.

We saw the opthalmologist.  In the morning we saw the retinal specialist, Dr. S., and he said Ryan’s retinas looked good (which is a concern with her particular deletion). He also said that her optic nerves looked normal! We asked about this because the doc at her first appointment, Dr. W., said that they were greyish. He (and another doctor that was with him today) both said that they are in the normal range as far as color – which means good health. Her eyes also dilated appropriately to light although she didn’t respond physically to it (squinting, etc) like she had at the first appointment. He was very nice and was explaining that she may just have “delayed visual maturation” which means that her vision will improve. This is what we were hoping to hear but that doesn’t mean it’s a definite. He also said that she’s probably near sighted and that she may need corrective lenses. Can you picture her with baby glasses on? How frickin cute! The next steps are to get an MRI so we can see if there is anything in her brain/eye structures that is not formed correctly that would be preventing her from seeing. We also have to go back to Dr. W. (the one we weren’t crazy about) in March because her specialty is development, and Dr. S. in April. We were telling Dr. S. how we feel that she is tracking better and he said that although he doesn’t have any evidence today that she can see 😦 he’s only seeing a snapshot of her and that we know her best. He also said that he expects to see an improvement in her by the next time he examines her. This is a huge improvement in bedside manner over Dr. W.

We also had our last feeding therapy today! It’s our last one because she has improved so much that they feel like it’s not necessary to come back unless we need to (like when she starts solids). The OT and Speech therapist that we have been seeing were so impressed that she was eating more and with more ease. Her reflux is so much better and her muscle tone is probably improving as well. She does have her moments when she doesn’t want to eat, or can’t eat, but she’s exceeding her daily goal of 17 oz. a day and she’s steadily moving along the growth chart at 5% for weight. We will be meeting with the original feeding team of the nutritionist, the gastro doc and the speech and OT in a few weeks and at that point they’ll let us know what our next steps are as far as what she needs to be taking in per day, etc. Everyone keeps telling us that she’s looking more filled out and we agree.

Also, Ryan’s been sleeping through the night for about a week and a half (except for 2 nights ago when she decided she needed to eat and have a huge poop!) and still exceeding her feeding needs. She’s holding her head up pretty well too! She went to her sitter for half a day yesterday and did great. Charlie was so excited that her sister was there with her! She’ll go for a half day again tomorrow and start her full days on Friday when I go back to work.


15 Responses to “Ryan’s Story”

  1. mindy Says:

    love you guys! I think this blog will be great for you and everyone who loves you, Katie, Charlie and precious Ryan!

  2. Sue Effler Says:

    Good job, Liz! Love hearing about your journey with Ryan!

  3. What a journey you have been on so far! Ryan has great mommies and a great big sister who are going to help her with whatever she needs! You’re doing a great job!! Although you seem calm on here, I’m sure you are both a nervous wreck…make sure to reach out to others for support, which looks like you are doing, too! Best wishes to all of you!!

  4. Randy Canode Says:

    Love the idea of you having a blog. Ryan’s a very lucky little girl to have such loving,caring and inteligent parents!

  5. jenny hartzell Says:

    Hi Liz,
    Thinking of you and hoping you will update this blog as you can. I am hoping and praying for little Ryan, and that as you continue along this journey you will get answers on the many unknowns, and that she will hit as few bumps in the road as possible.

    Jenny Hartzell

  6. Kristen Says:

    I had no idea Liz. Ryan has some very strong women in her corner thats for sure! I am amazed at your strength. I know though that us as women will do anything for our children. Continued prayer for Ryan, you, Katie & Charlie that God will continue to Bless you with strength, love and courage for the road ahead. You all will never be far from my mind.

  7. Tony Steele Says:

    Dear Liz, Katie, Charlie, and Ryan,

    I admire your strength, courage, and honesty. My family and I wish all of you nothing but the best!


    Tony, Tonia, and Sadie Steele

  8. Alix Johnson Says:

    Thank you so much for sharing Ryan’s story! I look forward to joining in the celebration has she continues to reach various milestones! I wish our almost 4 month old would go back to sleeping through the night!

  9. Beth Says:

    Hi Liz. We are friends on Facebook through the JS site. I blog over at http://www.thesonshinechronicle.wordpress.com. So glad to see another 11q blog out there. Ryan sounds a lot like my son. The eating got A LOT better – at birth he ate less than an ounce per feeding. You should also keep going to those ophthalmology appointments (I know, it’s hard – pediatric ophthalmologists don’t have the best bedside manner). My son is very far-sighted and when he was younger he would only smile at things he heard, until he got glasses. Anyway, I look forward to reading more about Ryan. Please contact me if you need anything. Those first months were very difficult.

  10. Caryn May Says:

    Liz and Katie this is a great idea. Obviously, I studied many syndromes and chromosomal issues in my undergrad work. And when I read the history of some of my students I am always amazed at the progress they made from birth with the help of doctors, therapists, medicine, and mostly loving, caring parents. I regret not meeting Ryan yet, but our day is coming. Good to hear from you. Progress is coming and trust me, it will happen.

  11. Vanderly Says:

    Wow, I had no idea, so I am glad you posted your blog on Facebook. I will pray for your little treasure for complete healing, and I look forward to following your journey. Thanks for having the courage to share.

  12. Megan McLeod Says:

    Liz–First of all I want to say that Ryan is a beautiful little girl! She has the best mommies in the world who I know will go to any lengths to make sure she gets the best care and early intervention. She will flourish, you will see. Kids inspire. They are resilient. They are fighters. this experience will make you stronger and your journey will help and inspire others. Lots of love being sent your way. She will be just fine (she just can’t tell you that yet;) XOXO

  13. Sandy Jones Says:

    Dear Liz,
    Just read about your sweet Ryan. She is a beauty! And what a fighter she is. She has amazing parents who are going to give her the best life ever! She will be surrounded w loving family & friends.
    I believe my friends’ son has an 11 chromosome deficiency also. He just celebrated his 18th birthday!
    Please know that Brennan, Rachel & I will keep Ryan in our daily prayers!
    Sandy Jones & Brennan & Rachel Smith

  14. sandeep Says:

    Hi I can understand your each hard time because I had boy who’s also suffered same things which is like your daughter it’s very hard
    But day by day he getting stronger and big and now he’s one year old but he didn’t sit yet I’m so worried for him when he sit properly I’m really want to see him to sit him
    He has more energy in legs from upper body
    And we just pray for him and we loved him so much I can’t live without him…….

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