Our 2 year no hospitalization streak has come to an end sadly.

We had a good run.  Ambrose is in the PICU.  He had been sick at home for almost 2 weeks.  The only exposure he had was at hospital appointments a few days prior to getting sick.  I try to be so careful.  It is so frustrating!
Two weeks ago Ambrose began needing more O2, having copious secretions, and having fevers.  Of course it was over the weekend.  By Monday, his fevers were gone so I was hoping he was on the mend.  He has weathered several respiratory illnesses at home the past 3 years, since we have had the ventilator and can give hime CPAP and pressure support.   He always takes a long time to get over something.  Progress is slow, but you see a few good signs and want to believe he is getting better.  I agonize over the decision to get a physician involved, especially since I believe that is how we got sick in the first place.
The other night when I got home from work (at midnight) Ambrose's nurse told me that he was desating while sitting upright and only tolerating laying down in his crib, despite xoponex and some bag breaths.  This was quite concerning.  I put him on his vent for the night and tossed and turned (as did Ambrose) knowing I would have to make a decision in the morning.  When morning finally came, Ambrose immediately desatted upon coming off the vent, despite the fact that he was lying in his crib.  I called his pulmonologist, who was at a conference.  Fortunately her secretary called her on her cell phone, she called me, then the PICU and made the arrangements.  I called 911, for only the 2nd time.  I usually try to transport him myself, but knew they could transport him lying down.  Rescue, Inc. did a great job with him and have just been wonderful to us!  He went to MY hospital, BMH, awaiting transport to DHMC.  Everyone there was great too!  After the obligatory few hr wait for transport, the DHART team came to transport him.  When moving him from the ER stretcher to the ambulance stretcher, Ambrose had a big desat and distress.  After instilling some saline in his trach he coughed up a huge, thick green mucous plug.

The PICU attending spent about 45 min with ultrasound looking for a good vein and using it for guidance in putting in a peripheral IV.  Poor baby had to have his arm taped to a board.  Needless to say, he did not like this.   I do appreciate the care that was taken to try to prevent repeated unsuccessful pokes.  
Ambrose had various cultures taken and was started on IV Zosyn and inhaled Tobramycin.  He had many seizures that day as he had missed some of his seizure meds during his hectic day.  It took 6 hours after he was admitted before they finally got meds for him.  That is my biggest pet peeve.  It should not take that long and that has always been my experience there.
Anyway, my darling did well, grew essentially normal flora and was able to come home Sunday afternoon (2 days later).  It seems that the plug was the source of much of his distress.   His WBC count was elevated at 18, indicating infection but cultures were normal.  He went home on antibiotics.
He is feeling so much better.
Thank you to everyone who kept him in their thoughts and prayers!  And thank you to all the medical personel who cared for him along the way!

Cards

Once again, the wonderful Charla Reardon created a facebook event to ask people to send birthday cards to Ambrose.  He received 68 cards.  We want to send a special thank you to Kelley Hickey Lynch and the Armata Biance children's rosary group for the fabulous tactile cards they made for Ambrose and for all the prayers over the years!  Ambrose really enjoys touching the cards and one day made a huge SMILE while touching one of them!

SWEET ANGEL SOPHIA

Sophia's birthday and the day of her passing have come and gone once more.  On January 22, it was 6 years since she left us to become an angel.  Everyday we miss her but we feel her presence in our lives, most especially through our darling Ambrose.  My husband and I wrote messages on balloons and released them into the sky.  My husband was able to do so over Hogback mountain and watch it slowly drift away at the "100 mile view" spot.  I released mine in the backyard and am not sure it went so far, but it felt good to do.  I'm sure she got the message.

February 7 was the 10th year anniversary of her birth.  10 years!  Wow!  How our lives have changed. She was a tiny girl, but the love that radiated off of her filled the whole house.  It is hard to remember a time before she was with me.  Perhaps because she has always been with me.  I miss her so, but am so grateful that we had almost 4 glorious years with her and I know I will one day be with her again.

Ambrose Turned 5! January 19th

Ambrose resting up for the party.

 

A Year with 0 Hospitalizations 2012 in Review

2012 was a big year for Ambrose.  His first major accomplishment was turning four.  

He went out for many walks and had many outings.  He attended his Mommy's RN pinning ceremony,

wemt to church several times, played at the park, went to the apple pie festival, and Santa's Land.

We were amazed to learn that he, and his sister Sophia, did not have Taybi-Linder Syndrome, as

previously believed.  Their new diagnosis is CDG-1d, Congenital Disorders of Glycosylation type 1D.  

This is also quite rare, but is part of a group of disorders currently being researched in several countries.

Most importantly, children with this disorder live longer than those with his former diagnosis.  I have even been able to connect with another Mother, which is wonderful after all these years of possibly being the only one.  

Ambrose weathered 2 respiratory illnesses at home and has gone a whole calendar year without any hospitalizations.  By the end of 2012, it had been over 19 months since his last hospitalization. 

Here are a few photos from Christmas time.

  

Wonderful visit from Lisa and Carole

Two wonderful childhood friends, Lisa and Carole, each traveled 5-6 hrs (from seperate directions) to visit and soak up some Brosie Love.  I am so honored to have such friends!

Little Brosie has been sick for the last week.  The first photo is taken mid-sneeze.

 He caught a cold from his Daddy, who tried very hard to not expose him to his germs.  Ambrose had temperatures up to 103.4.  He was requiring more O2 and coughing a lot, having tons of tracheal secretions.  We have kept him on his vent most of the time, as we have done each time he is sick.
He has been able to weather all of his respiratory illnesses at home since we have gotten the vent about 2 years and 8 months ago.

 I decided not to call the Doctor this time.  They usually put him on an antibiotic "just in case."  It just gives him bad diarrhea.  Ambrose's Dad and I (who also got sick) got better on our own, so it seem to be a virus.  He also had several crying spells, which is awful.  Ambrose rarely ever cries, so I think he must be very uncomfortable when he does, and he cannot communicate what is bothering him.  It is pretty much the only time he makes any sound, but it is just heartbreaking to hear his cry.

Ambrose has't had any fevers, or crying spells, in several days and has come down some on his O2, but he is still needing the vent most of the time and needing much suctioning.  He has been somewhat playful, but not quite his usual self yet.  Hopefully soon!

Super Duper, Super Dapper, Super Brosie

Diagnosis: CDG-1d

Ambrose and Sophia's diagnosis is in:  It is CDG Type 1d, also known as ALG3-CDG or CDGS-1d.
There are 2 mutations on the ALG3 gene; one came from me, and one from his father.
He may be case #11.
My genetic counselor gave me this diagnosis over the phone.  She said she had a few case studies she
would send me.  I asked how old the oldest one was.  She said the one case study was about siblings, alive at the time of the report and were 7 and 9 years old.  That gave me new hope.  I cried tears of joy.
Then, after a quick Google search of  CDG-1d, I found a post from a woman in CA from 4 days ago, saying her daughter was just diagnosed with CDG-1d.  When I read her post I discovered her daughter was 22 years old and doing well!  Perhaps she is not as severely affected as Ambrose, but it is wonderful and hopeful news.  The average life expectancy with Taybi-Linder was under 1 year.
I will add more later.  Just wanted to share this news.

Not Taybi-Linder!

Well I have been waiting for more before posting, but will start with what I have.
I learned a few weeks ago that Ambrose does not have Taybi-Linder Syndrome and instead has something called Congenital Disorders of Glycosylation or CDG.  There are many types of CDG and we are waiting to find out which one.  This is mind blowing and exciting and scary.  I am dying to get the exact diagnosis.

The way we got here is through the genetic study in Canada.  The gene that causes Taybi-Linder syndrome had been discovered.  We were asked to participate in a research study about this. (DHMC had stored cord blood from both of my children.)  They were found to not have that gene.  However, it was believed so strongly that they had this syndrome that they wanted to look more indepth to see if they could find another gene that could cause this syndrome.  It was then that I was told that there were 2 other families who had 2 children affected by this syndrome who also tested negative.  Unfortunately they had all passed away.  This is how I met my dear friend Jenn in Canada.
Then I was contacted to get permission to draw blood from my dear boy to do another test.  The results showed that he had two abnormal genes which relate to CDG.  I am told that this means this IS the diagnosis.  They asked for DNA samples (cheek swabs) from my husband and I to see if one of the gene changes comes from each of us.  We just sent those in a few days ago.  They are doing a sanger series (or something like that) on Ambrose's genes.  I am told that this is an exciting discovery for them.  There was a handwritten note on the DNA kits thanking us and saying "you don't know what this means to us."

For the last nine years of my life, my children had this exceedingly rare, FATAL syndrome.  No one knew anything about it or seemed interested.  I had not gotten to connect with other parents and at times wondered if they were the only ones in the world to have it.  I was haunted by knowing that the longest surviving child to have it only lived to six.  A lengthy article was published in the American Journal of Medical Genetics earlier this year about the neurological changes in Taybi-Linder syndrome based on Sophia and Ambrose.  (Finally someone was interested thanks to a medical student at Dartmouth.)  If you Google "Taybi-Lindre Syndrome" it is the first item, then a few lines down is Ambrose's trach kids profile, then further down are "images for Taybi-Linder syndrome" - all pictures of my children.  I clicked the side bar for images and every picture I ever posted to this blog are there.  That kind of freaked me out.  There were some other kids, but when I clicked on them I saw they were just kids who had profiles on the trach kids website, and must have gotten pulled because Ambrose and Sophia are on there and Taybi-Linder is mentioned.  Oops.

Now on to CDG.  There is not an easy way to explain it, nor do I feel I understand it well.  It is a neurometabolic disorder, having to do with a malfunction on the cellular level.  Unfortunately this can affect every organ or tissue in the body potentially.  There are at least 50 different types, many of which have only been identified in a few individuals.  It is believed that there are probably hundreds of types.  It is an "inborn error of metabolism".

Glycosylation is a process by which all human cells convert sugars into long chains and attach them to proteins.  These are called glycoproteins and are required for normal growth and function of all tissues and organs.    This is acomplicated process involving hundreds of steps and specialized enzymes that help along the way.  In CDG, one of these enzymes malfunctions.  The impact on the body depends on which enzyme is involved.

Here is a link to more information about this disorder if you are interested:
www.ncbi.nlm.nih.gov/books/NBK1332/

I could not believe this at first, since Sophia's and Ambrose's disorder seems clearly to be a skeletal dysplasia.  They were put into the category of MOPD, of which Taybi-Linder is a subtype, because they had microcephaly, along with dwarfism.  The more I look (AND THAT IS THE MOST WONDERFUL THING: THERE IS LOTS OF INFORMATION.  PEOPLE ARE RESEARCHING THIS, WRITING ARTICLES, THERE ARE TREATMENTS FOR A FEW TYPES, THERE ARE SUPPORT GROUPS, EVEN FACEBOOK PAGES. There are about 1000 people worldwide.  That's huge compared to 32 since 1968!) I find that skeletal dysplasia and skeletal abnormalities can be caused by some CDGs.  I even found an article specifically addressing that, which concluded by saying that CDG should be considered as a diagnosis in any unusual skeletal dysplasia.  Wow!

I have seen nearly all of Sophia's and Ambrose's issues listed amongst the many different types that I have read about (which is only a fraction of the known types I'm sure) but none have listed all and all have mentioned things they do not have.  I saw little mention of respiratory issues, which have always been my children's most serious concern.  I saw no mention of trachs or unusual anatomy of the trachea.  Perhaps they have an undiscovered type.  That would figure.  But perhaps knowing the cause of it will make a difference.

I am hopeful since there is so much info and seeing that there are actually adults with this disorder, but nervous, as there are also types with short life expectancies and new things for me to worry about.  This  is why I am dying to find out the actual diagnosis.

 Ambrose helping make salsa

 Olympic fever

 Ambrose's gold medals
London 2012 and
Beijing 2008