Help Isaac St Laurent Breathe Again: Mayo Clinic Journey

Isaac St Laurent (our son) has had more than 50 surgeries. He is now 26 years old. Isaac was born at 1 lb., with V.A.C.T.E.R.L. We brought him home 2 months later, weighing in at 4 lbs.

Sometime in the last year or two, one of Isaac’s lungs collapsed. The other is expanding, and a recent scan has shown that he is literally trying to breathe through a pinhole sized opening. Treatment here is not possible for this and so his main doctor has referred us to Mayo Clinic. We have been in contact with them and they have accepted his case for evaluation and testing in Jacksonville Florida, beginning September 29th for 12 days.

This will be the first time we have had one team do a comprehensive, full body testing since he was first born, and the tests will be extensive.

First, I should share some background on his condition.

V.A.T.E.R./ V.A.C.T.E.R.L.

VATER association is a grouping of complex anomalies which is comprised of congenital abnormalities of many systems. At least 3 or more of these following anomalies must be present for a child to be diagnosed as having VATER association. Isaac has all of these and more below.

Vertebral defect i.e., hemi-vertebra, sacral agenesis.

Isaac has an extra vertebra in his neck and seven hemi-vertebra (half formed) in his upper back. He also developed some extra fluid in his spinal cord that we are tracking. (this ended up being a "Tethered Chord" and required a surgery) which if not treated right away, could have left him paralyzed. Tethered chord can also return over time. The Spinal Chord attaches some place in the column and begins to stretch and can be permanently damaged. This is something that needs to be tracked throughout his life.

Anorectal malformation or imperforate anus. Isaac had no anal opening when he was born. The surgical team actually created one, through a series of surgeries. Isaac had a colostomy bag until we could establish the opening the surgical team created. (no pictures here) The results are that Isaac has very little, if no bowel control. Hence an Oder issue has plagued him all through school. He is careful about what he eats and when, but has to wear pull-ups and no matter what he does, can be rough to be around for some people.

Tracheoesophageal fistula. AND Esophageal atresia: with or without TE (tracheoesophageal) fistula. Isaac had no esophagus. Basically his throat went to his lungs and his lungs to his stomach. (Roughly) Isaac had no Esophagus and they had to create one. He has had many procedures to repair and maintain this. It was also the cause of his open-heart surgery. (see cardiac anomalies below)

Renal anomalies. Some children are born with one kidney or other renal deformities. Isaac had a lower intestine connection to his renal system. This was repaired early on, but testing and tracking renal issues is an important treatment strategy with VACTERL. Some of these kids develop Kidney issues later in life, that were not evident early on.

Radial dysplasia or aplasia. Isaac is missing his left radial. (One of the bones in his forearm.) This was also an extremely short arm. Dr Dell in Gainesville Florida (Shand's Hospital) grew this one bone, an additional 3 1/2 inches. This was a painful process of cranking this apparatus several times, during the day, over a period of time. I think the cleaning hurt him more though.

In 1973, the scope of VATER association expanded to be VACTERL association with the associated defects listed below :

Cardiac anomalies. Isaac's complete cardiac system is on the opposite side. He had to have emergency Open Heart surgery, before they would open up his spine to repair the "tethered chord" The surgery was done at Emory University and Isaac should be seeing a cardiac specialist every year. He has not been in years. These are expensive tests. Complications can develop for VATER patients in their 20's and he needs to continue to track this.

Limb defects i.e., Talipes. Isaac had a floating thumb and has a missing thumb. Dr. Paul Dell, in a series of surgeries, at Shand's in Gainesville, gave Isaac a thumb on his right hand by turning the index finger in and making it an opposing finger. He also created an opposing finger on Isaac's left hand. This left hand doesn't have the radial bone support, that the right does. There is also a lack of muscle structure there, but Isaac finds ways to use it.

Despite these challenges, Isaac has developed into a passionate, intelligent and creative young man, who has many friends.

Today we are dealing with the closure of the lung and the implications of a limited ability to breathe.

Isaac does have Medicare, not Medicaid and we will be responsible for 20% of the medical as well as the travel to and from Jacksonville and the housing over the 12 days, for the testing. We have applied for a residence with a discounted provider and there is no guarantee we will get in. (They do 50 Lung Transplants a year there).

There is also a hotel that offers a discount rate for the hospital and we have tentative reservations there.

They have scheduled 34 appointments for us, so this will be an intensive schedule and we are beginning to get some estimates on what that 20% could total.

If, indeed they accept him and put him on the list for a transplant, and Isaac decides this is the right path for him, we will begin on another extremely difficult path.

Part of the decision for Isaac is the success rate for this kind of surgery. 15% of the lung transplant recipients do not survive the first year and 50% do not survive beyond 5 years. There are also other factors, such as a lifetime pharmaceutical regime and limitations that will be a challenge for a 26 year old to consider.

My wife and I will be going and attending to Isaac during the testing, and evaluations and consultations with the physicians. I will also be working from there and my employer is being more than flexible.

The path through the transplant (IF it happens) will include waiting for a call to report, an anxious 6-7 hour drive, on short notice and then the actual surgery. The recuperation for this is highly focused on preventing and monitoring potential rejection and requires that we will have to stay near the hospital ( and yes, it has to be Mayo in Jacksonville) for 3 months or more. I have not thought through the logistics nor the expense of this yet. Isaac and we will certainly need the prayers of many, and our home church here has a head start on that.

We will also need the financial help and today I do not know how much to say that will be. We bought a home in November and I did get a little over extended getting in. Then this developed. We have a bed for Isaac that is as close to a hospital bed as we can get (without rails) and I had planned on putting in a ramp and sidewalk to the house. Ran out of funds and what we have now is gravel and steps... I can't think about trying to get a wheel chair into the entry. Hopefully we will not need to.

We set up a separate account with USAA for anything related to this and are keeping everything separate from our personal accounts. Anything at all, especially prayers, will help us!