Dawson Philip Henry was born on November 1, 2024, at 36 weeks gestation. We were so excited to welcome our baby boy into the world. Dawson had shown some signs in utero of possible issues with short limbs and excessive amniotic fluid. The doctors were waiting for him upon delivery and after seeing him felt there was no need to look any further. Dawson looked healthy and strong.

We began our golden hour enjoying our new family. Unfortunately, Dawson stopped breathing and was rushed to the NICU where he stayed for a total of 66 days.

On November 4th the NICU team did an EEG which showed irregular brain waves. After reviewing those tests the doctors conducted an MRI which showed that Dawson had several small brain bleeds and an indication of a lack of oxygen.

The genetic team started testing immediately and on November 18th we received Dawson’s Diagnosis, Pallister - Killian Syndrome. Shocked to say the least, it was not the diagnosis we expected.

What is Pallister-Killian Syndrome?

Pallister-Killian Syndrome (PKS) is a rare genetic disorder characterized by a distinctive appearance, developmental delays, and other health issues.

Causes:

PKS is caused by an extra copy of a small piece of chromosome 12p. (Termed tetrasomy 12m mosaicism). The genetic abnormality leads to an imbalance in gene expression, resulting in symptoms of PKS.

Symptoms:

*the symptoms of PKS can vary widely but may include*

• Distinctive facial features: High forehead, low-set ears, widely spaced eyes, broad nasal bridge, thin upper lip

• Developmental delays: Intellectual disability, delayed motor skills, speech difficulties

• Hypotonia (low muscle tone): Weakness and floppiness

• Seizures

• Heart defects

• Skin abnormalities: Patches of depigmented or hyperpigmented skin

• Skeletal abnormalities: Short stature, scoliosis

Prognosis:

• The prognosis for PKS varies depending on the severity of symptoms. Some individuals may live long and relatively fulfilling lives, while others have more severe health challenges and a shorter life expectancy

Because this condition is mosaic, we will not know what or when Dawson's condition will affect certain things. This condition is progressive and as he gets older it will make

more of a difference to his life and ours. The life expectancy of PKS children is unknown. Many PKS children are extremely immune compromised. One tiny cold can be severe for Dawson.

During our 66 days in the NICU, we learned Dawson was struggling with reflux. The reflux would cause his oxygen and heart rate levels to drop. We tried to bottle feed for about a week and a half until the doctors performed a swallow test and discovered that he aspirates everything he swallows.

After that test Dawson's doctor; Dr. Staub decided to go in for an exploratory surgery to see what they could find out and install a G tube. The G tube would allow Dawson to get nutrition without aspiration.

During that surgery, they discovered a malrotation of his intestines. Dawson's internal anatomy was not like other babies. Dr. Staub corrected the malrotation and removed his appendix as it was not in the proper place. He also had a small hernia in his abdomen, which they also corrected.

After surgery, it took some time for Dawson to get off the ventilator. We had a lot of highs and lows during this time.

Hoping that Dawson could be strong enough to make it through. Step by step he slowly worked his way to nasal cannula oxygen. On January 6th we were finally able to bring Dawson home, on 1 liter of oxygen and a feeding tube.

After coming home we soon realized that Dawson did not react to sound like we would expect. He has since had hearing tests which have indicated severe hearing loss in both ears.

Of course, it would be with our luck that because of the anatomy of Dawson's ears, regular hearing aids are not possible. He will need a special hearing aid which is only made by one company who, of course, is not in-network with our insurance. Due to the rarity of PKS, we have learned the hard way insurance does not cover everything.

Copay's and non-covered medical necessities are adding up. We will be attending CHOP (Children’s Hospital of Philadelphia) in April to learn more about his condition and what we can do to give him the best life possible.

We know Dawson will need therapies weekly to try and keep him as close to meeting his milestones as possible. We hope he will walk and talk someday, so it is our job to give him the tools he will need to accomplish that. It will be difficult to get him to those therapies while working full time. Again this will affect us financially. We thought that social security disability would help us with some of the medical bills. Unfortunately, we learned that we make too much money to qualify. We are considered lower middle class, so being denied was a bit of a surprise to us.

We promised Dawson that we will keep moving forward and figure out how to make it work. He has already overcome so much and we know there is even more to come.

We love learning more about him, and how he makes us smile and brings joy into our lives each day. We are learning to navigate being new parents and nurses at the same time. This may be a lifetime battle but only time will tell. Dawson is a miracle and a true blessing for us, and we believe he is here to teach us all something.