Tuesday, November 27, 2012

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!

Sunday, October 21, 2012

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!

Friday, September 28, 2012

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.

Friday, August 24, 2012

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:

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

Thursday, July 19, 2012

Ambrose is 4 1/2 today!

Today is Ambrose's half birthday!  Hooray for my little champ!
I am so proud of him evey second!  And I am so grateful to be his
We had a wonderful nap together this afternoon.  Heaven!

I just made this shirt for Brosie.

Ambrose just had another ultrasound of his kidneys and appointment with the nephrologist to follow up on his renal calcification.  The ultrasound did not look any better and was possibly worse.  There is a lot of calcium building up in his kidneys.  The diuretics do not seem to be helping him to clear it, although the doctor thinks it might be much worse without them.  He wants us to increase Ambrose's free water by 250 mls a day.  I am gradually working up to this amount.  Also, his potassium is again extremely low at 2.8 (normal range is 3.5-5.0) so his Potassium supplement is increased to 4 times a day.  The good news is that his urine calcium is the lowest since they discovered this problem well over a year ago.  It was 0.58 (normal is 0.2; his last one was 1.2)
His neurologist and GI doctor were both quite pleased with how he is doing.  The neurologist commented, "You're taking such great care of him." 

He keeps biting his tongue

Potty time!

For a long time now, Ambrose waits until a few minutes after waking to pee.  I recently got him a
potty seat and put him on it upon waking and it worked!  For the next few days, every time I put him on it after he woke up, he peed.  Unfortunatly I then noticed he had developed bruises on his bottom and thighs in the areas in contact with the seat.  I am giving him time for his bruises to heal and purchased some foam to try to cushion the seat and try again.

Kindred spirits

Well I am delighted that one of the moms I became aware of through the genetic study got in touch with me.  (A Canadian hospital claimed to have found the gene that causes Taybi-Linder Syndrome and our genetics department got us involved in this study.  The results were that Ambrose did not have this gene but it is believed that he has this syndrome and that there may be another gene that can cause it as well.  Later we were contacted again because this study identified 2 other families who have also had 2 affected children who also tested negative for this gene and they wanted permission to do a more indepth genetic analysis.  I was so excited to hear that there are others, and asked for my contact information to be sent to these other families.)

My new friend lives in Canada and has lost two darling boys with this syndrome.  Tragically their lives were extremely short and the second died only a month ago.  My heart breaks for her, but we are both so happy to be in touch.  I hope that I can be a support for her.  She is a wonderful mother!

We have found so many striking similarities between our children.  (There are so few cases ever reported that the information is so limited.  There are many distinctive features that Sophia and Ambrose both share but I never knew if they were common to this syndrome.)  Some very specific details that all of our children share are: index fingers that cross over the middle finger, the last joint of the pinkies are bent at 90 degree angles, they have high vaulted narrow palates, and most significantly: unusual anatomy of their tracheas.  I have never seen this mentioned in any literature and it is so very important as it contributed to her children's death and has caused many episodes of respiratory distress in Ambrose before they finally figured out an appropriate custom made trach tube.

Ambrose feeling better

Well it has been a long haul.  He started to get better, then had some more fevers.  He did not need to be on the vent during the day, but he still had such copius secretions.  Ambrose was sick for about a month but was able to beat this thing at home!  It was likely a virus. but two different antibiotics were tried "just in case", which reaked havoc on his system.  He is not quite back to his baseline O2 but he is so much better.

Sunday, June 24, 2012

Brosie has been sick :(

Two weeks ago Ambrose started coughing alot, then got a fever of 103.  I was also sick along with him.  He started needing more oxygen and lots and lots of suctioning.  It is our (and our Doctor's) goal to keep him out of the hospital.  When he is sick, I put him on his ventilator (CPAP and Pressure Support) around the clock.  He was started on  Bactrim, a broad spectrum antibiotic, just in case it helps.  Progress was slow and he began sleeping very little.  Our nurse discovered that insomnia was listed as a possible side effect of Bactrim, so he stopped taking it and began to get some rest.  A few days ago he started to seem to feel more like himself.  His oxygen needs decreased and he was able to be off of the vent during the day.  He became more bright eyed and cuddly.  Yeah!  He and I are still not totally recovered.  He still has a lot of secretions from his trach and his nose.  He seems to be a bit weak as he is not bearing any weight.  He usually likes to stand up on our laps (with support under his arms) many times a day for several seconds to a minute.  I was not putting his knee immobilizers on him at night when he was at him sickest.  

More Mouth Woes

Now poor litle Brosie has a white sore on his tongue from his sharp bottom tooth.  You can't really tell form these photos how very pointy and sharp that little tooth is.  Oh, and he lost another (top) tooth.

Outdoor Fun with Ambrose

Ambrose has been on many outings this spring:  Church, the park, and lots of walks.  Then it got hot....

Wednesday, May 9, 2012


Ambrose has had a very nice spring with lots of walks, playing, and of course endless cuddles.
He recently attended my ADN pinning ceremony and I think I can say he was the most popular person there.  He got lots of attention from my fellow graduates.

Ambrose has been healthy!  He continues to have issues with renal calcification and periods of hypokalemia, but they don't seem to effect him.  He had a follow up ultrasound of his kidneys at the end of January, which showed no change since the previous one 6 months earlier.  He has been on 2 diuretics to try to flush out the calcium he is retaining in his kidneys.  They increased the diuretics to twice a day, which of course, caused his potassium level to drop.  Many labs and dosage adjustements later, after his potassium level stabilized, they raised the diuretics again.

He has also started having more seizures after a long, relatively seizure free period.  His Lamictal was increased, and the seizures increased along with it.  He does his own thing.

Ambrose's GI doctor came to the conclusion,  ongoing struggles with acid burns around his G-tube, that his stomach lining has grown up into the tract of the G-tube.  When this happens, it does not have a tight fit and is very prone to leaking.  The only solution is putting in a new hole.  We are not pursuing that at this time.  We attend to it many times a day, have tried many different ointments,  and are right now trying "Tubie Woobies," cute fabric pads, made by a Mom of a child with a G-tube, to absorb drainage.

Ambrose lost his 7th tooth while at the dentist. (Unintentionally)  He has 4 new ones coming in on the bottom, the middle two of which are very tiny, odd, and sharp.  See below. (His lips are not always that dry).

Another interesting this that has happened was that we were contacted about a study at Alberta Children's hospital.  They claim to have found the gene that causes Taybi-Linder syndrome.  DHMC stored cord blood on both Sophia and Ambrose.  We consented to the study and the result was that he did not have the gene.  They still feel that he has Taybi-Linder and I learned that sometimes there can be more than one gene that causes the same syndrome.  A couple of months later I was contacted again.  It seems that this study also fould another family who has had two children (unfortunately both of whom have passed away) who had Taybi-Linder and also tested negative for the gene, and another family who lost one child and is pregnant with another affected child.  They wanted permission to do a more in depth genome analysis to try to find the other gene.  I said," fine, but most importantly, how can you get me in touch with these other parents?"  I have never had contact with anyone else with children with Taybi-Linder.  I asked her to pass along my contact information and this blog address to those parents.  I am so hoping they will contact me.
I was also contacted by a lovely oyung woman in Paris who was pregnant with a son who was identified as having some kind of genetic syndrome.  In researching online, she came across this blog.  She said it inspired her to see how happy and loved Ambrose is.  Her son was born and is doing well.  He does not have Taybi-Linder syndrome. :)